OGATA Tsutomu 緒方勤

Researcher Number	40169173
Other IDs
Affiliation (Current)	2025: 浜松医科大学, 医学部, 特命研究教授 2025: 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 共同研究員
Affiliation (based on the past Project Information) *help	2021 – 2022: 浜松医科大学, 医学部, 特命研究教授 2011 – 2020: 浜松医科大学, 医学部, 教授 2016: 浜松医科大学, 小児科, 教授 2012: 国立成育医療センター研究所, 小児思春期発育研究部, 部長 2010: 国立成育医療研究センター, 分子内分泌研究部, 部長 … More 2010: 国立成育医療研究センター, 研究所・分子内分泌研究部, 部長 2010: 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 部長 2010: 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 部長 2009: National Research Institute for Child Health and Development, 小児思春期発育研究部, 部長 2005 – 2009: 国立成育医療センター(研究所), 小児思春期発育研究部, 部長 2008: National Research Institute for Child Health and Development, 小児思春期発育研究部, 部長 2007: National Research Institute for Child Health and Development, 国立成育医療センター研究所・小児思春期発育研究部, 部長 2004 – 2006: National Research Institute for Child Health and Development, Director, 部長 2004: 国立成育医療センター研究所, 部長 2003 – 2004: 国立成育医療センター研究所, 小児思春期発育研究部, 部長 2002: NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT, 研究所, 部長 2002: 国立成育医療センター研究所, 部長 1993: Keio University, Pediatrics, Assistant, 医学部・小児科, 助手 1992: 東京電力病院, 小児科, 科長 Less
Review Section/Research Field	Principal Investigator Pediatrics / Human genetics / Medium-sized Section 54:Internal medicine of the bio-information integration and related fields / Endocrinology / Biological Sciences / Biological Sciences Except Principal Investigator Pediatrics / Embryonic/Neonatal medicine / Pediatrics / Biological Sciences … More / Obstetrics and gynecology / Morphology/Structure / Endocrinology / Human genetics Less
Keywords	Principal Investigator SHOX / ヒト疾患 / Haploinsufficiency / 発現調節領域 / 半量不全 / 性染色体 / インプリンティング / エピジェネティクス / 遺伝子型-表現型解析 / 性分化疾患 … More / MAMLD1 / 遺伝子機能 / POR / 多因子疾患 / 性分化異常症 / 絶対連鎖不平衡 / 微細欠失 / ESR1 / 内分泌撹乱環境化学物質感受性 / 子宮内発育不全 / 生殖機能障害 / 機能低下 / 偽性副甲状腺機能低下症 / 機能亢進 / 抗利尿不適合性腎症候群 / GNAS / 3' region / Enhancer / Full length cDNA / In silico analysis / Sex chromosomes / Regulatory seqiuence / in silico / 3'領域 / エンハンサー / 完全長cDNA / in silico解析 / Genotype-phenotype correlation / Lymphogenic gene / Gonadal function / Enhancer sequence / Sex choromosome / Turner syndrome / リンパ管形成遺伝子 / 性腺機能 / ターナー症候群 / メチル化 / iPS細胞 / エピ変異 / 発症機序 / インプリンティング疾患 / 高齢出産 / 生殖補助医療 / 分子生物学的解析 / 胎盤 / 個体 / メチル化可変領域 / プロモーター / アロマターゼ過剰症 / 新規遺伝子 / 次世代シークエンサー解析 / 高密度アレイCGH解析 / ゲノム・エピゲノム解析 / エピゲノム / ゲノム / 性差 / 内分泌制御 / 遺伝的制御 / ヒト疾患解析 / 性差構築 / テストステロン産生 / 精子形成障害 / 卵巣機能不全 / Metabglic syndrome / Metabolic syndrome / ノックダウン / Notchシグナル / 尿道下裂 / CXorf6 / ノックアウトマウス / 臨床像 / 遺伝子変異 / 性分化 / SF1 / Ad4BP / Nothシグナル伝達経路 / エストロゲン受容体α遺伝子 / Notchシグナル伝達経路 / 新規性分化異常症責任遺伝子 / 精巣形成不全 / 内分泌撹乱物質 / ヒト遺伝疾患 / 単一遺伝子疾患 … More Except Principal Investigator 性染色体 / SNP / 性分化 / 成長障害 / SHOX / 生殖 / 性差 / 遺伝子 / ステロイド / 胎盤 / 人類遺伝学 / シルバーラッセル症候群 / インプリンティング / エピジェネティクス / 遺伝学 / ICR2 / ICR1 / IMAGe症候群 / ICR2(CDKN1C-KvDMR) / ICR1(IGF2-H19DMR) / シルバーラッセル症候群（SRS） / ICR2(KvDMR) / ICR1(H19DMR) / 第11番染色体 / エピ変異 / インプリンティング疾患 / 胎盤低形成 / シルバーラッセル症候群(SRS) / 内分泌 / 染色体 / ゲノム / 疾患 / 先天性疾患 / ホルモン / 整形外科学 / 先天奇形 / 小児科学 / 原因遺伝子 / 裂手裂足症 / 臨床遺伝学 / 遺伝子解析 / 先天異常 / インプリント異常症 / 生殖補助医療（ART） / DNAメチル化 / インプリント疾患 / 生殖補助医療(ART) / DOHaD / 性分化異常 / 女性化 / 精巣異形成症候群 / 内分泌撹乱ホルモン / 環境化学物質 / 感受性遺伝子 / エストロゲン / 環境ホルモン / LYMPHOEDEMA / GONADAL FUNCTION / SHORT STATURE / TURNER SKELETAL FEATURES / HAPLOINSUFFICIENCY / SEX CHROMOSOME / X染色体短腕欠失 / 量効果 / Langer type skeletal dysplasia / dyscondrosteosis / 下肢長比 / 座高 / 成長パターン / リンパ浮腫 / 性腺機能 / 特発性低身長 / ターナー骨格徴候 / 半量不全 / Gene mapping / Genotype-phenotype correlation / Growth gene / Pseudoautosomal region / Sex chromosome / Short stature / zoo blotting / YACライブラリー / クローニング / 成長決定遺伝子 / 低身長 / 遺伝子マッピング / 遺伝子型-表現型解析 / 身長決定遺伝子 / 擬常染色体領域 / 体質性小人症 / 疾患抵抗性アリル / DPB1 / DRB1-DQB1ハプロタイプ / 疾患感受性アリル / HLA遺伝子 / HLA以外の遺伝子SNP / 発症年齢 / 連鎖不平衡 / ジェノミックインプリンティング / HLAクラスI遺伝子 / HLAクラスII遺伝子 / 遺伝子ー遺伝子相互作用 / HLA / 小児1型糖尿病 / 遺伝子-遺伝子相互作用 / 疾患抵抗性遺伝子 / 疾患感受性遺伝子 / 自己免疫 / HLA 遺伝子 / 遺伝素因 / 小児 1 型糖尿病 / 分子進化 / 生殖機能異常 / 生殖行動 / シグナル伝達 / 発現制御 / 脳下垂体ホルモン / 視床下部ホルモン / 実験動物 / ホームページ / 広報 / 技術支援 / 市民公開シンポジウム / 領域会議 / 共同研究 / 次世代シークエンサー / 若手支援 / 臨床 / 発生・分化 / 脳・神経 / 細胞・組織 / Notch / MAMLD1 / 性ホルモン / 生殖内分泌学 / 遺伝子調節 / 臨床像 / シルパーラッセル症候群 / 先天奇形症候群 Less

Clarification of underlying factors for disorders of sex development and reproductive dysfunction as multifactorial disordersPrincipal Investigator
- Principal Investigator
  
  Ogata Tsutomu
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Review Section
  
  Medium-sized Section 54:Internal medicine of the bio-information integration and related fields
- Research Institution
  Hamamatsu University School of Medicine
Molecular basis of human sex spectrum
- Principal Investigator
  
  Fukami Maki
- Project Period (FY)
  2017 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
- Review Section
  
  Biological Sciences
- Research Institution
  National Center for Child Health and Development
Identification of the germline-derived GNAS gain-of-function mutations and clarification of the novel mechanism leading to GNAS loss-of-functionPrincipal Investigator
- Principal Investigator
  
  OGATA TSUTOMU
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Endocrinology
- Research Institution
  Hamamatsu University School of Medicine
Epigenotype-phenotype analysis of Silver-Russell syndrome pathogenesis mechanism
- Principal Investigator
  
  Kato Fumiko
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Hamamatsu University School of Medicine
Epigenetic analyses in patients with imprinting disorders conceived by assisted reproduction technologies
- Principal Investigator
  
  Hiura Hitoshi
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Obstetrics and gynecology
- Research Institution
  Tohoku University
Clarification of (epi)genetic mechanisms involved in the development of human imprinting disordersPrincipal Investigator
- Principal Investigator
  
  Ogata Tsutomu
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Human genetics
- Research Institution
  Hamamatsu University School of Medicine
Combined action of environmental and genetical factors on mail genital abnormalities
- Principal Investigator
  
  Ohishi Akira
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Hamamatsu University School of Medicine
Genetic mechanism of split-hand/foot malformation with or without long bone deficiency
- Principal Investigator
  
  Nagata Eiko
- Project Period (FY)
  2013 – 2016
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Hamamatsu University School of Medicine
"Molecular mechanisms for establishment of sex differences"
- Principal Investigator
  
  MOROHASHI Ken-ichirou
- Project Period (FY)
  2010 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
- Review Section
  
  Biological Sciences
- Research Institution
  Kyushu University
Clarification of underlying factors involved in the establishment of sex differencesPrincipal Investigator
- Principal Investigator
  
  OGATA TSUTOMU
- Project Period (FY)
  2010 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
- Review Section
  
  Biological Sciences
- Research Institution
  Hamamatsu University School of Medicine
  National Research Institute for Child Health and Development
Demonstration of Novel Brain Molecular Mechanisms Regulating Reproduction
- Principal Investigator
  
  TSUTSUI KAZUYOSHI
- Project Period (FY)
  2010 – 2014
- Research Category
  
  Grant-in-Aid for Scientific Research (S)
- Research Field
  
  Morphology/Structure
- Research Institution
  Waseda University
Clarification of (epi)genetic causes leading to the development of human imprinting disordersPrincipal Investigator
- Principal Investigator
  
  OGATA Tsutomu
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Human genetics
- Research Institution
  Hamamatsu University School of Medicine
  National Research Institute for Child Health and Development
Research of genetic factor for childhood-onset Type 1 diabetes
- Principal Investigator
  
  SUGIHARA Shigetaka
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tokyo Women's Medical University
Elucidation of the pathogenic mechanism and the clinical spectrum of disorders associated with imprinted genes on human chromosome 14
- Principal Investigator
  
  KAGAMI Masayo
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  National Research Institute for Child Health and Development
Molecular mechanism leading to impaired sexual differentiation and reproductive failure in patients with MAMLD mutations
- Principal Investigator
  
  FUKAMI Maki
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Endocrinology
- Research Institution
  National Research Institute for Child Health and Development
Novel sex development gene CXorf6 : determination of clinical spectrum in mutation positive patients and clarification of underlying factorsPrincipal Investigator
- Principal Investigator
  
  OGATA Tsutomu
- Project Period (FY)
  2007 – 2009
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development
Molecular genetic analysis of Silver-Russell syndrome and intrauterine growth retardation
- Principal Investigator
  
  YAMAZAWA Kazuki
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development
Clarification of the genetic mechanisms underlying the regulation for the expression of SHOX, a causative gene for short stature and sdyschomndrosteosisPrincipal Investigator
- Principal Investigator
  
  OGATA Tsutomu
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development
Comprehensive mutation and susceptibility analyses and its clinical application in disorders of sex development and reproductive dysfunctionPrincipal Investigator
- Principal Investigator
  
  OGATA Tsutomu
- Project Period (FY)
  2004 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  National Research Institute for Child Health and Development
Clarification of genetic mechanisms leading to the whole phenotype in Turner syndromePrincipal Investigator
- Principal Investigator
  
  OGATA Tsutomu
- Project Period (FY)
  2003 – 2004
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development
CLARIFICATION OF CLINICAL ROLE AND GROWTH REGULATION MECHANISM OF THE SHOX GENE ON THE HUMAN PSEUDOAUTOSOMAL REGION
- Principal Investigator
  
  MATSUO Nobutake
- Project Period (FY)
  2000 – 2002
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT
  Keio University
Molecular studies on the pathogenesis of idiopathic short stature : Analysis of a growth gene(s) on the X chromosome short arm.
- Principal Investigator
  
  MATUO Nobutake
- Project Period (FY)
  1992 – 1993
- Research Category
  
  Grant-in-Aid for General Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University

[Book] 外性器と脳の性分化のメカニズム．有阪治（編）ビギナーのための小児内分泌診療ガイド2014
- Author(s)
  緒方勤
- Total Pages
  10
- Publisher
  中山書店
- Data Source
  KAKENHI-PLANNED-22132004
[Book] 外性器と脳の性分化のメカニズム．有阪治（編）ビギナーのための小児内分泌診療ガイド2014
- Author(s)
  緒方勤
- Publisher
  中山書店
- Data Source
  KAKENHI-PROJECT-25253023
[Book] ヌーナン症候群．横谷進（編）成長障害のマネジメント　改定第3版2013
- Author(s)
  緒方勤
- Publisher
  医薬ジャーナル社
- Data Source
  KAKENHI-PROJECT-25253023
[Book] 性分化の分子生物学．吉田修（監），小川修、岡田裕作、荒井陽一、寺地敏郎、松田公志、筧義行、羽渕友則（編）ベッドサイド泌尿器科学　改定第4版2013
- Author(s)
  緒方勤
- Publisher
  南江堂
- Data Source
  KAKENHI-PROJECT-25253023
[Book] Turner症候群．吉川史隆，倉智博久，平松祐司（編）産婦人科疾患最新の治療2013-2015．2013
- Author(s)
  緒方勤
- Publisher
  南江堂
- Data Source
  KAKENHI-PROJECT-25253023
[Book] Turner症候群．吉川史隆，倉智博久，平松祐司（編）産婦人科疾患最新の治療2013
- Author(s)
  緒方勤
- Total Pages
  2
- Publisher
  南江堂
- Data Source
  KAKENHI-PLANNED-22132004
[Book] ヌーナン症候群．横谷進（編）成長障害のマネジメント　改定第3版2013
- Author(s)
  緒方勤
- Total Pages
  8
- Publisher
  医薬ジャーナル社
- Data Source
  KAKENHI-PLANNED-22132004
[Book] 産婦人科疾患最新の治療2013-20152013
- Author(s)
  緒方勤
- Total Pages
  308
- Publisher
  南江堂
- Data Source
  KAKENHI-PROJECT-22227002
[Book] 性分化の分子生物学．吉田修（監），小川修、岡田裕作、荒井陽一、寺地敏郎、松田公志、筧義行、羽渕友則（編）ベッドサイド泌尿器科学　改定第4版2013
- Author(s)
  緒方勤
- Total Pages
  6
- Publisher
  南江堂
- Data Source
  KAKENHI-PLANNED-22132004
[Book] クラインフェルター症候群2010
- Author(s)
  緒方勤
- Publisher
  中山書店(印刷中)
- Data Source
  KAKENHI-PLANNED-22132004
[Book] 原発性性腺機能低下2010
- Author(s)
  緒方勤
- Publisher
  医学書院(印刷中)
- Data Source
  KAKENHI-PLANNED-22132004
[Book] 性分化疾患における遺伝カウンセリング2010
- Author(s)
  緒方勤
- Publisher
  メディカルドゥ(印刷中)
- Data Source
  KAKENHI-PLANNED-22132004
[Book] ターナー症候群2010
- Author(s)
  緒方勤
- Publisher
  中山書店(印刷中)
- Data Source
  KAKENHI-PLANNED-22132004
[Book] IUGRの遺伝学的要因. SGA性低身長症のマネジメント (藤枝憲二, 板橋家頭夫監修)2009
- Author(s)
  緒方勤, 伊達木澄人, 山澤一樹
- Publisher
  メディカルレビュー社
- Data Source
  KAKENHI-PROJECT-19790752
[Book] ターナー症候群の遺伝学(単行本)2003
- Author(s)
  緒方勤
- Total Pages
  205
- Publisher
  メディカルレビュー社
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.2023
- Author(s)
  Hiraide T, Shimizu K, Okumura Y, Miyamoto S, Nakashima M, Ogata T, Saistu H
- Journal Title
  
  J Hum Genet
  
  Volume: - Issue: 7 Pages: 499-505
- DOI
  10.1038/s10038-023-01143-3
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias.2023
- Author(s)
  Masunaga Y, Fujisawa Y, Massart F, Spinelli C, Kojima Y, Mizuno K, Hayashi Y, Sasagawa I, Yoshida R, Kato F, Fukami M, Kamatani N, Saitsu H, Ogata T.
- Journal Title
  
  J Clin Endocrinol Metab.
  
  Volume: Apr 3 Issue: 10 Pages: 1-11
- DOI
  10.1210/clinem/dgad187
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08255, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21K09351, KAKENHI-PROJECT-23K27729
[Journal Article] PORCN-related microphthalmia with limb anomalies: case report and literature review.2023
- Author(s)
  Fukahori K, Yamoto K, Saitsu H, Ogata T, Nagasaki K
- Journal Title
  
  Am J Med Genet A
  
  Volume: 191(2) Issue: 2 Pages: 636-639
- DOI
  10.1002/ajmg.a.63048
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21K20862
[Journal Article] Molecular Autopsy Underlie COVID-19-Associated Sudden, Unexplained Child Mortality.2023
- Author(s)
  Unuma K, Tomomasa D, Noma K, Yamamoto K, Matsuyama T, Makino Y, Hijikata A, Wen S, Ogata T, Okamoto N, Okada S, Ohashi K, Uemura K, Kanegane H
- Journal Title
  
  Front Immunol (accepted)
  
  Volume: -
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] インプリンティング2023
- Author(s)
  緒方勤
- Journal Title
  
  Genetics in CKD
  
  Volume: 94 (3) Pages: 339-345
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] A questionnaire-based survey of medical conditions in adults with Prader-Willi syndrome in Japan: implications for transitional care2023
- Author(s)
  Kawai M, Muroya K, Murakami N, Ihara H, Takahashi Y, Horikawa R, Ogata T
- Journal Title
  
  Endocr J
  
  Volume: 70 Issue: 5 Pages: 519-528
- DOI
  10.1507/endocrj.EJ22-0561
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] c.116G>A, p(Arg39His)ホモ接合性バリアントが同定された一過性眼振を伴う遊離シアル酸蓄積症の姉弟例2023
- Author(s)
  伊藤あかね、平出拓也、古澤友花子、松本由香里、川崎知子、鶴井聡、才津浩智、緒方勤、福田冬季子
- Journal Title
  
  浜松医科大学小児科学雑誌
  
  Volume: 3 (1) Pages: 36-44
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] ミュラー管発生異常2022
- Author(s)
  緒方勤
- Journal Title
  
  末岡浩（企画）AYA世代の補正ヘルスケア．産婦人科の実際．9月臨時増刊号
  
  Volume: 71 (10) Pages: 1034-1040
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] Characterization of KMT2A :: MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR.2022
- Author(s)
  Komatsu K, Sakaguchi K, Shimizu D, Yamoto K, Kato F, Ogata T, Saitsu H
- Journal Title
  
  Pediatr Blood Cancer
  
  Volume: e30120 Issue: 4
- DOI
  10.1002/pbc.30120
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641
[Journal Article] Retinitis pigmentosa with optic neuropathy and COQ2 mutations: A case report2022
- Author(s)
  Kurata K, Hosono K, Takayama M, Tatsuno M, Saitsu H, Ogata T, Hotta Y
- Journal Title
  
  Am J Ophthalmol Case Rep
  
  Volume: - Pages: 101298-101298
- DOI
  10.1016/j.ajoc.2022.101298
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K18340
[Journal Article] The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration2022
- Author(s)
  Sato T, Ishii T, Fukami M, Ogata T, Hasegawa T
- Journal Title
  
  Congenit Anom (Kyoto)
  
  Volume: - Issue: 3 Pages: 136-137
- DOI
  10.1111/cga.12464
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] Intrauterine hyponutrition reduces fetal testosterone production and postnatal sperm count in the mouse.2022
- Author(s)
  Fujisawa Y, Ono H, Konno A, Yao I, Itoh H, Baba T, Morohashi K, Katoh-Fukui Y, Miyado M, Fukami M and Ogata T.
- Journal Title
  
  Journal of the Endocrine Society
  
  Volume: 6 Issue: 4 Pages: 1-11
- DOI
  10.1210/jendso/bvac022
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20K08863, KAKENHI-PROJECT-21K18298, KAKENHI-PROJECT-20K08255, KAKENHI-PROJECT-20H03436, KAKENHI-PROJECT-20H03823, KAKENHI-PROJECT-22H00492
[Journal Article] Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata2022
- Author(s)
  Hiraide T, Masunaga Y, Honda A, Kato F, Fukuda T, Fukami M, Nakashima M, Saitsu H, Ogata T
- Journal Title
  
  J Hum Genet
  
  Volume: - Issue: 5 Pages: 303-306
- DOI
  10.1038/s10038-021-01000-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641
[Journal Article] Congenital disorders of estrogen biosynthesis and action2022
- Author(s)
  Fukami Maki、Ogata Tsutomu
- Journal Title
  
  Best Practice and Research Clinical Endocrinology and Metabolism
  
  Volume: 36 Issue: 1 Pages: 101580-101580
- DOI
  10.1016/j.beem.2021.101580
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539
[Journal Article] A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants2022
- Author(s)
 Hikoya Akiko、Hosono Katsuhiro、Ono Kaoru、Arai Shinji、Tachibana Nobutaka、Kurata Kentaro、Torii Kaoruko、Sato Miho、Saitsu Hirotomo、Ogata Tsutomu、Hotta Yoshihiro
- Journal Title
 
 Ophthalmic Genetics
 
 Volume: - Issue: 5 Pages: 1-6
- DOI
 10.1080/13816810.2022.2141788
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-20H00539
[Journal Article] Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system2022
- Author(s)
  Fuke Tomoko、Nakamura Akie、Inoue Takanobu、Kawashima Sayaka、Hara-Isono Kaori、Matsubara Keiko、Sano Shinichiro、Yamazawa Kazuki、Fukami Maki、Ogata Tsutomu、Kagami Masayo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 10 Pages: 607-611
- DOI
  10.1038/s10038-022-01048-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07858, KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-23K24309
[Journal Article] Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).2022
- Author(s)
  Masunaga Y, Nishimura G, Hishiyama T, Imamura M, Kashimada K, Kadoya M, Wada Y, Okamoto N, Oba D, Ohashi H, Ikeno M, Sakamoto Y, Fukami M, Saitsu H, Ogata T
- Journal Title
  
  Sci Rep
  
  Volume: 12 Pages: 17079-17079
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review2022
- Author(s)
 Sano S, Masunaga Y, Kato F, Fujisawa Y, Saitsu H, Ogata T
- Journal Title
 
 Clinical Pediatric Endocrinology
 
 Volume: 31 Issue: 3 Pages: 172-177
- DOI
 10.1297/cpe.2022-0020
- ISSN
 0918-5739, 1347-7358
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-20H00539
[Journal Article] ACAN biallelic variants in a girl with severe idiopathic short stature2022
- Author(s)
  Masunaga Y, Ohkubo Y, Nishimura G, Ueno T, Fujisawa Y, Fukami M, Saitsu H, Ogata T
- Journal Title
  
  J Hum Genet
  
  Volume: - Issue: 8 Pages: 481-486
- DOI
  10.1038/s10038-022-01030-3
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641
[Journal Article] Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders2022
- Author(s)
  Hara-Isono Kaori、Nakamura Akie、Fuke Tomoko、Inoue Takanobu、Kawashima Sayaka、Matsubara Keiko、Sano Shinichiro、Yamazawa Kazuki、Fukami Maki、Ogata Tsutomu、Kagami Masayo
- Journal Title
  
  The Journal of Clinical Endocrinology & Metabolism
  
  Volume: 107 Issue: 8 Pages: e3121-e3133
- DOI
  10.1210/clinem/dgac319
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07858, KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-23K24309
[Journal Article] Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review2022
- Author(s)
  Shinichiro Sano1,2, Yohei Masunaga2, Fumiko Kato3, Yasuko Fujisawa2, Hirotomo Saitsu4, Tsutomu Ogata
- Journal Title
  
  Clin Pediatr Endocrinol
  
  Volume: -
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences2022
- Author(s)
  Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tuemer Z
- Journal Title
  
  Clin Epigenetics
  
  Volume: 14 Issue: 1 Pages: 41-41
- DOI
  10.1186/s13148-022-01259-x
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-22K07858
[Journal Article] First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders2022
- Author(s)
  Mackay Deborah、Bliek Jet、Kagami Masayo et al.
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 14 Issue: 1 Pages: 143-143
- DOI
  10.1186/s13148-022-01358-9
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07858, KAKENHI-PROJECT-20H00539
[Journal Article] A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia2022
- Author(s)
  Yamoto K, Okada S, Kato F, Fujisawa Y, Fukami M, Saitsu H, Ogata T
- Journal Title
  
  Am J Med Genet A
  
  Volume: - Issue: 5 Pages: 1612-1617
- DOI
  10.1002/ajmg.a.62649
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-21K20862
[Journal Article] Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing2022
- Author(s)
  Hiraide Takuya、Shimizu Kenji、Miyamoto Sachiko、Aoto Kazushi、Nakashima Mitsuko、Yamaguchi Tomomi、Kosho Tomoki、Ogata Tsutomu、Saitsu Hirotomo
- Journal Title
  
  Journal of Human Genetics
  
  Volume: - Issue: 7 Pages: 387-392
- DOI
  10.1038/s10038-022-01016-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K21570, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K07243
[Journal Article] Silver-Russell症候群とその周辺2022
- Author(s)
  緒方勤
- Journal Title
  
  周産期医学特集：知っておくべき周産期・新生児領域の遺伝学的検査を展望する
  
  Volume: 52 (5) Pages: 761-764
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system2022
- Author(s)
  Fuke T, Nakamura A, Inoue T, Kawashima S, Hara-Isono K, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M
- Journal Title
  
  J Hum Genet
  
  Volume: -
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa2022
- Author(s)
  Tachibana Nobutaka、Hosono Katsuhiro、Nomura Shuhei、Arai Shinji、Torii Kaoruko、Kurata Kentaro、Sato Miho、Shimakawa Shuichi、Azuma Noriyuki、Ogata Tsutomu、Wada Yoshinao、Okamoto Nobuhiko、Saitsu Hirotomo、Nishina Sachiko、Hotta Yoshihiro
- Journal Title
  
  Genes
  
  Volume: 13 Issue: 2 Pages: 359-359
- DOI
  10.3390/genes13020359
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K10004, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-19H03810, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-22K09848, KAKENHI-PROJECT-20H03845, KAKENHI-PROJECT-22K19606
[Journal Article] SHOX far-downstream deletion in a patient with non-syndromic short stature2022
- Author(s)
  Fukami M, Shindo J, Ogata T, Kageyama I, Kamimaki T
- Journal Title
  
  Am J Med Genet A
  
  Volume: - Issue: 7 Pages: 2173-2177
- DOI
  10.1002/ajmg.a.62734
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus2022
- Author(s)
  Sayaka Kawashima, Akiko Yuno, Shinichiro Sano, Masayo Kagami
- Journal Title
  
  J Bone Miner Res .
  
  Volume: 10 Issue: 10 Pages: 1850-1859
- DOI
  10.1002/jbmr.4652
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08178, KAKENHI-PROJECT-21K07334, KAKENHI-PROJECT-22K07858, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PUBLICLY-21H00342, KAKENHI-PROJECT-23K24490
[Journal Article] MAMLD1 and differences/disorders of sex development: An update.2022
- Author(s)
  Miyado M, Fukami M and Ogata T.
- Journal Title
  
  Sexual Development
  
  Volume: 印刷中 Issue: 2-3 Pages: 1-12
- DOI
  10.1159/000519298
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-21K18298
[Journal Article] Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing2021
- Author(s)
  Hiraide T, Yamoto K, Masunaga Y, Asahina M, Endoh Y, Ohkubo Y, Matsubayashi T, Tsurui S, Yamada H, Yanagi K, Nakashima M, Hirano K, Sugimura H, Fukuda T, Ogata T, Saistu T
- Journal Title
  
  Clin Genet
  
  Volume: 100 Issue: 1 Pages: 40-50
- DOI
  10.1111/cge.13951
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20K09916
[Journal Article] Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation2021
- Author(s)
 Masunaga Yohei、Mochizuki Mie、Kadoya Machiko、Wada Yoshinao、Okamoto Nobuhiko、Fukami Maki、Kato Fumiko、Saitsu Hirotomo、Ogata Tsutomu
- Journal Title
 
 Endocr J
 
 Volume: 68 Issue: 5 Pages: 605-611
- DOI
 10.1507/endocrj.EJ20-0706
- NAID
 130008044607
- ISSN
 0918-8959, 1348-4540
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-19K10658, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539
[Journal Article] 性分化分野で多用する遺伝学的検査2021
- Author(s)
  緒方勤
- Journal Title
  
  臨床遺伝専門医テキスト：各論I 臨床遺伝学生殖・周産期領域
  
  Volume: - Pages: 38-43
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review2021
- Author(s)
  Masunaga Yohei、Fujisawa Yasuko、Muramatsu Mayumi、Ono Hiroyuki、Inoue Takanobu、Fukami Maki、Kagami Masayo、Saitsu Hirotomo、Ogata Tsutomu
- Journal Title
  
  Endocr J
  
  Volume: 68 Issue: 1 Pages: 111-117
- DOI
  10.1507/endocrj.EJ20-0291
- NAID
  130007975883
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539
[Journal Article] SOX10 mutation screening for 117 patients with Kallmann syndrome2021
- Author(s)
  Shima Hirohito、Tokuhiro Etsuro、Okamoto Shingo、Nagamori Mariko、Ogata Tsutomu、Narumi Satoshi、Nakamura Akie、Izumi Yoko、Jinno Tomoko、Suzuki Erina、Fukami Maki
- Journal Title
  
  Journal of the Endocrine Society
  
  Volume: 5 Issue: 7
- DOI
  10.1210/jendso/bvab056
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539
[Journal Article] 新規ヒトインプリンティング疾患「Kagami-Ogata症候群」の樹立2021
- Author(s)
  緒方勤
- Journal Title
  
  浜松医科大学小児科学雑誌
  
  Volume: 1 Pages: 3-19
- NAID
  120006975657
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 22021
- Author(s)
  Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M
- Journal Title
  
  J Hum Genet
  
  Volume: - Issue: 11 Pages: 1121-1126
- DOI
  10.1038/s10038-021-00937-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia2021
- Author(s)
  Masunaga Yohei、Kagami Masayo、Kato Fumiko、Usui Takeshi、Yonemoto Takako、Mishima Kazuo、Fukami Maki、Aoto Kazushi、Saitsu Hirotomo、Ogata Tsutomu
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 13 Issue: 1 Pages: 73-73
- DOI
  10.1186/s13148-021-01062-0
- NAID
  120007042184
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20K07243, KAKENHI-PROJECT-21K07334
[Journal Article] Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome2021
- Author(s)
  Nishina Sachiko、Hosono Katsuhiro、Ishitani Shizuka、Kosaki Kenjiro、Yokoi Tadashi、Yoshida Tomoyo、Tomita Kaoru、Fukami Maki、Saitsu Hirotomo、Ogata Tsutomu、Ishitani Tohru、Hotta Yoshihiro、Azuma Noriyuki
- Journal Title
  
  Journal of Human Genetics
  
  Volume: － Issue: 10 Pages: 1021-1027
- DOI
  10.1038/s10038-021-00909-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K09825, KAKENHI-PROJECT-20K21502, KAKENHI-PROJECT-19H03412, KAKENHI-PROJECT-19K10004, KAKENHI-PUBLICLY-20H05365, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-19H03810, KAKENHI-PLANNED-21H05287
[Journal Article] Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation2021
- Author(s)
  Hiraide T, Wada Y, Matsubayashi T, Kadoya M, Masunaga Y, Ohkubo Y, Nakashima M, Okamoto N, Ogata T, Saitsu H
- Journal Title
  
  Brain Dev
  
  Volume: -
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] 思春期早発症が先行した松果体胚細胞腫瘍2021
- Author(s)
  山本拓也、村松真由美、小野裕之、大髙幸之助、坂口公祥、緒方勤、藤澤泰子
- Journal Title
  
  日小児会誌
  
  Volume: 125 Pages: 1316-1322
- NAID
  40022707852
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] GNAS-Gsα機能亢進型バリアントに起因する新たな先天性腎疾患の発見2021
- Author(s)
  宮戸真美、緒方勤、深見真紀
- Journal Title
  
  糖尿病・内分泌代謝内科
  
  Volume: 53 Pages: 71-77
- NAID
  40022653122
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism2021
- Author(s)
  Tamaoka Satoshi、Suzuki Erina、Hattori Atsushi、Ogata Tsutomu、Fukami Maki、Katoh-Fukui Yuko
- Journal Title
  
  Human Genome Variation
  
  Volume: 8 Issue: 1 Pages: 5-5
- DOI
  10.1038/s41439-021-00137-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08876, KAKENHI-PROJECT-18K06926, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539
[Journal Article] Long-term Effect of Aromatase Inhibition in Aromatase Excess Syndrome2021
- Author(s)
  Binder Gerhard、Nakamura Akie、Schweizer Roland、Ogata Tsutomu、Fukami Maki、Nagasaki Keisuke
- Journal Title
  
  The Journal of Clinical Endocrinology & Metabolism
  
  Volume: 106 Issue: 5 Pages: 1491-1500
- DOI
  10.1210/clinem/dgab054
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539
[Journal Article] ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance2021
- Author(s)
  Kagami M, Hara-Isono K, Matsubara K, Nakabayashi K, Narumi S, Fukami M, Ohkubo Y, Saitsu H, Takada S, Ogata T
- Journal Title
  
  Clin Epigenetics
  
  Volume: 13 Issue: 1 Pages: 119-119
- DOI
  10.1186/s13148-021-01106-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641
[Journal Article] OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation2021
- Author(s)
  Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N.
- Journal Title
  
  Front Cell Dev Biol.
  
  Volume: 9 Pages: 631428-631428
- DOI
  10.3389/fcell.2021.631428
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-20H00539
[Journal Article] プラダーウイリ症候群とGH治療．特集：成長ホルモン (GH) 治療を考える2021
- Author(s)
  緒方勤、村上信之、永井敏郎
- Journal Title
  
  糖尿病・内分泌代謝内科
  
  Volume: 53 Pages: 178-186
- NAID
  40022674665
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539
[Journal Article] Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.2021
- Author(s)
  Hiraide T, Tanaka T, Masunaga Y, Ohkubo Y, Nakashima M, Fukuda T, Ogata T, Saitsu H
- Journal Title
  
  J Hum Genet
  
  Volume: - Issue: 12 Pages: 1185-1187
- DOI
  10.1038/s10038-021-00948-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H03641
[Journal Article] Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan2020
- Author(s)
  Mano Hiroshi、Fujiwara Sayaka、Takamura Kazuyuki、Kitoh Hiroshi、Takayama Shinichiro、Ogata Tsutomu、Haga Nobuhiko
- Journal Title
  
  Journal of Orthopaedic Science
  
  Volume: 20 Issue: 4 Pages: 650-654
- DOI
  10.1016/j.jos.2020.05.008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18H03125, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-21K11494
[Journal Article] Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome2020
- Author(s)
  Yamazawa K, Inoue T, Sakemi Y, Nakashima T, Yamashita H, Khono K, Fujita H, Enomoto K, Nakabayashi K, Hata K, Nakashima M, Matsunaga T, Nakamura A, Matsubara K, Ogata T, Kagami M.
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: - Issue: 6 Pages: 107019-107019
- DOI
  10.1136/jmedgenet-2020-107019
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K08689, KAKENHI-PROJECT-20H00539
[Journal Article] Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development.2020
- Author(s)
  Igarashi M, Masunaga Y, Hasegawa Y, Kinjo K, Miyado M, Saitsu H, Kato-Fukui Y, Horikawa R, Okubo Y, Ogata T and Fukami M.
- Journal Title
  
  Scientific Reports
  
  Volume: 10 Issue: 1 Pages: 17375-17375
- DOI
  10.1038/s41598-020-74405-1
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20H00550, KAKENHI-PROJECT-18K06926
[Journal Article] Human Spermatogenesis Tolerates Massive Size Reduction of the Pseudoautosomal Region2020
- Author(s)
  Fukami Maki、Fujisawa Yasuko、Ono Hiroyuki、Jinno Tomoko、Ogata Tsutomu
- Journal Title
  
  Genome Biology and Evolution
  
  Volume: 12 Issue: 11 Pages: 1961-1964
- DOI
  10.1093/gbe/evaa168
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539
[Journal Article] Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ? 30?years2020
- Author(s)
  Hara-Isono Kaori、Matsubara Keiko、Mikami Masashi、Arima Takahiro、Ogata Tsutomu、Fukami Maki、Kagami Masayo
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 12 Issue: 1 Pages: 111-111
- DOI
  10.1186/s13148-020-00900-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539
[Journal Article] Kagami?Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG32020
- Author(s)
  Omark Jessica、Masunaga Yohei、Hannibal Mark、Shaw Brandon、Fukami Maki、Kato Fumiko、Saitsu Hirotomo、Kagami Masayo、Ogata Tsutomu
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Issue: 4 Pages: 439-443
- DOI
  10.1038/s10038-020-00858-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539
[Journal Article] Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing2020
- Author(s)
  Yamoto Kaori、Saitsu Hirotomo、Fujisawa Yasuko、Kato Fumiko、Matsubara Keiko、Fukami Maki、Kagami Masayo、Ogata Tsutomu
- Journal Title
  
  Clinical Case Reports
  
  Volume: 8 Issue: 6 Pages: 1076-1080
- DOI
  10.1002/ccr3.2826
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-17H06428
[Journal Article] A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.2020
- Author(s)
  Hiraide T, Watanabe S, Matsybayashi T, Yanagi K, Nakashima M, Ogata T, Saitsu H*
- Journal Title
  
  Mol Genet Genomic Med
  
  Volume: 8 Issue: 1 Pages: 1-3
- DOI
  10.1002/mgg3.11
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H04204
[Journal Article] POLR3A variants in striatal involvement without diffuse hypomyelination2020
- Author(s)
  Hiraide Takuya、Kubota Kazuo、Kono Yu、Watanabe Seiji、Matsubayashi Tomoko、Nakashima Mitsuko、Kaname Tadashi、Fukao Toshiyuki、Shimozawa Nobuyuki、Ogata Tsutomu、Saitsu Hirotomo
- Journal Title
  
  Brain and Development
  
  Volume: 42 Issue: 4 Pages: 363-368
- DOI
  10.1016/j.braindev.2019.12.012
- NAID
  120007038334
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-20H03641
[Journal Article] Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum2020
- Author(s)
  Fuke Tomoko、Nakamura Akie、Inoue Takanobu、Kawashima Sayaka、Hara Kaori Isono、Matsubara Keiko、Sano Shinichiro、Yamazawa Kazuki、Fukami Maki、Ogata Tsutomu、Kagami Masayo
- Journal Title
  
  The Journal of Clinical Endocrinology & Metabolism
  
  Volume: 106 Issue: 3 Pages: 802-813
- DOI
  10.1210/clinem/dgaa856
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-19H03628, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-20K08178
[Journal Article] TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts2020
- Author(s)
  Uchiyama Hiroki、Masunaga Yohei、Ishikawa Takamichi、Fukuoka Tetsuya、Fukami Maki、Saitsu Hirotomo、Ogata Tsutomu
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 63 Issue: 11 Pages: 104060-104060
- DOI
  10.1016/j.ejmg.2020.104060
- NAID
  120007173432
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-17H06428
[Journal Article] Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation.2020
- Author(s)
  Imura K, Ikeya S, Ogata T, Tokura Y
- Journal Title
  
  J Dermatol
  
  Volume: 47 Issue: 4
- DOI
  10.1111/1346-8138.15206
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H04204
[Journal Article] Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.2020
- Author(s)
  Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, Nakabayashi K, Hattori A, Nagao K, Nozawa R-S, Obuse C, Miyado K, Ogata T, Fukami M and Miyado M.
- Journal Title
  
  Scientific Reports
  
  Volume: 10 Issue: 1 Pages: 10985-10985
- DOI
  10.1038/s41598-020-67715-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PLANNED-18H05532, KAKENHI-PROJECT-19H01067, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-19H03156, KAKENHI-PROJECT-20H03190, KAKENHI-PROJECT-17K08689
[Journal Article] Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients2020
- Author(s)
  Inoue Takanobu、et al
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 12 Issue: 1 Pages: 86-86
- DOI
  10.1186/s13148-020-00865-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-17K08689
[Journal Article] Genome-wide methylation analysis in Silver?Russell syndrome, Temple syndrome, and Prader?Willi syndrome2020
- Author(s)
  Hara-Isono Kaori、Matsubara Keiko、Fuke Tomoko、Yamazawa Kazuki、Satou Kazuhito、Murakami Nobuyuki、Saitoh Shinji、Nakabayashi Kazuhiko、Hata Kenichiro、Ogata Tsutomu、Fukami Maki、Kagami Masayo
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 12 Issue: 1 Pages: 159-159
- DOI
  10.1186/s13148-020-00949-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-19H03628
[Journal Article] Random X chromosome inactivation in patients with Klinefelter syndrome.2020
- Author(s)
  Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M and Fukami M.
- Journal Title
  
  Mol Cell Pediatr.
  
  Volume: 7 Issue: 1 Pages: 1-1
- DOI
  10.1186/s40348-020-0093-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K11194, KAKENHI-PROJECT-19K09682, KAKENHI-PROJECT-18K16249, KAKENHI-PROJECT-17K11206, KAKENHI-PROJECT-20H00539
[Journal Article] De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation2019
- Author(s)
  Shimizu Daisuke、Sakamoto Rieko、Yamoto Kaori、Saitsu Hirotomo、Fukami Maki、Nishimura Gen、Ogata Tsutomu
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 10 Pages: 1041-1044
- DOI
  10.1038/s10038-019-0650-0
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H04204
[Journal Article] KLF11 variant in a family clinically diagnosed with early childhood‐onset type 1B diabetes2019
- Author(s)
  Ushijima Kikumi、Narumi Satoshi、Ogata Tsutomu、Yokota Ichiro、Sugihara Shigetaka、Kaname Tadashi、Horikawa Yukio、Matsubara Yoichi、Fukami Maki、Kawamura Tomoyuki、The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes
- Journal Title
  
  Pediatric Diabetes
  
  Volume: 20 Pages: 712-719
- DOI
  10.1111/pedi.12868
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-18H02779
[Journal Article] (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.2019
- Author(s)
  Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M
- Journal Title
  
  Human Genome Variation
  
  Volume: - Issue: 1 Pages: 7-7
- DOI
  10.1038/s41439-019-0039-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K16249, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616, KAKENHI-PROJECT-17H04204
[Journal Article] Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures2019
- Author(s)
  Nakashima Mitsuko、Tohyama Jun、Nakagawa Eiji、Watanabe Yoshihiro、Siew Ch’ng Gaik、Kwong Chieng Siik、Yamoto Kaori、Hiraide Takuya、Fukuda Tokiko、Kaname Tadashi、Nakabayashi Kazuhiko、Hata Kenichiro、Ogata Tsutomu、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 4 Pages: 313-322
- DOI
  10.1038/s10038-018-0559-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04204
[Journal Article] Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development2019
- Author(s)
 Uehara Erika、Hattori Atsushi、Shima Hirohito、Ishiguro Akira、Abe Yu、Ogata Tsutomu、Ogawa Eishin、Fukami Maki
- Journal Title
 
 Cytogenetic and Genome Research
 
 Volume: 158 Issue: 3 Pages: 115-120
- DOI
 10.1159/000501378
- Peer Reviewed
- Data Source
 KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616, KAKENHI-PROJECT-17H04204
[Journal Article] Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)2019
- Author(s)
  Yamoto Kaori、Saitsu Hirotomo、Nishimura Gen、Kosaki Rika、Takayama Shinichiro、Haga Nobuhiko、Tonoki Hidefumi、Okumura Akihisa、Horii Emiko、Okamoto Nobuhiko、Suzumura Hiroshi、Ikegawa Shiro、Kato Fumiko、Fujisawa Yasuko、Nagata Eiko、Takada Shuji、Fukami Maki、Ogata Tsutomu
- Journal Title
  
  European Journal of Human Genetics
  
  Volume: 27 Issue: 12 Pages: 1845-1857
- DOI
  10.1038/s41431-019-0473-7
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07890, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-16K21079
[Journal Article] Aneuploid rescue precedes X-chromosome inactivation and increases the incidence of its skewness by reducing the size of the embryonic progenitor cell pool.2019
- Author(s)
  Yoshida T, Miyado M, Mikami M, Suzuki E, Kinjo K, Matsubara K, Ogata T, Akutsu H, Kagami M and Fukami M.
- Journal Title
  
  Human Reproduction
  
  Volume: 34 Issue: 9 Pages: 1762-1769
- DOI
  10.1093/humrep/dez117
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09682, KAKENHI-PROJECT-19K22988, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H01588, KAKENHI-PROJECT-17H04204
[Journal Article] Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.2019
- Author(s)
  Hiraide T, Ogata T, Watanabe S, Nakashima M, Fukuda T, Saitsu H*
- Journal Title
  
  Brain Dev
  
  Volume: 41 Issue: 5 Pages: 474-479
- DOI
  10.1016/j.braindev.2019.01.005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H04204
[Journal Article] Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.2019
- Author(s)
  Matsubara K, Itoh M, Shimizu K, Saito S, Enomoto K, Nakabayashi K, Hata K, Kurosawa K, Ogata T, Fukami M, Kagami M.
- Journal Title
  
  Clin Epigenetics
  
  Volume: 11 Issue: 1 Pages: 36-36
- DOI
  10.1186/s13148-019-0633-1
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H04204, KAKENHI-PLANNED-17H06428
[Journal Article] IGF2 Mutations2019
- Author(s)
  Masunaga Yohei、Inoue Takanobu、Yamoto Kaori、Fujisawa Yasuko、Sato Yasuhiro、Kawashima-Sonoyama Yuki、Morisada Naoya、Iijima Kazumoto、Ohata Yasuhisa、Namba Noriyuki、Suzumura Hiroshi、Kuribayashi Ryota、Yamaguchi Yu、Yoshihashi Hiroshi、Fukami Maki、Saitsu Hirotomo、Kagami Masayo、Ogata Tsutomu
- Journal Title
  
  The Journal of Clinical Endocrinology & Metabolism
  
  Volume: 105 Issue: 1 Pages: 116-125
- DOI
  10.1210/clinem/dgz034
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-17K10078, KAKENHI-PROJECT-18K15708
[Journal Article] De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions2019
- Author(s)
  Ohishi Akira、Masunaga Yohei、Iijima Shigeo、Yamoto Kaori、Kato Fumiko、Fukami Maki、Saitsu Hirotomo、Ogata Tsutomu
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Issue: 2 Pages: 181-186
- DOI
  10.1038/s10038-019-0690-5
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H04204
[Journal Article] Association of four imprinting disorders and ART2019
- Author(s)
  Hattori H, Hiura H, Kitamura A, Miyauchi N, Kobayashi N, Takahashi S, Okae H, Kyono K, Kagami M, Ogata T, Arima T.
- Journal Title
  
  Clin Epigenetics
  
  Volume: 11 Issue: 1 Pages: 21-21
- DOI
  10.1186/s13148-019-0623-3
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18H02355, KAKENHI-PROJECT-17K09188, KAKENHI-PROJECT-18K09216, KAKENHI-PROJECT-19K16135, KAKENHI-PROJECT-19K18660, KAKENHI-PROJECT-17H04204
[Journal Article] Temple Syndrome in a Patient With Variably Methylated CpGs at the Primary MEG3/DLK1:IG-DMR and Severely Hypomethylated CpGs at the Secondary MEG3:TSS-DMR2019
- Author(s)
  Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A, Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T.
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 11 Issue: 1 Pages: 41-41
- DOI
  10.1186/s13148-019-0640-2
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K06356, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H01588, KAKENHI-PROJECT-17H04204
[Journal Article] MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration2019
- Author(s)
  Hamanaka K、Takata A、Uchiyama Y、Miyatake S、Miyake N、Mitsuhashi S、Iwama K、Fujita A、Imagawa E、Alkanaq AN、Koshimizu E、Azuma Y、Nakashima M、Mizuguchi T、Saitsu H、Wada Y、Minami S、Katoh-Fukui Y、Masunaga Y、Fukami M、Hasegawa T、Ogata T、Matsumoto N
- Journal Title
  
  Human Molecular Genetics
  
  Volume: 印刷中 Issue: 14 Pages: 2319-2329
- DOI
  10.1093/hmg/ddz066
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K06926, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis2019
- Author(s)
  Miyado Mami、Fukami Maki、Takada Shuji、Terao Miho、Nakabayashi Kazuhiko、Hata Kenichiro、Matsubara Yoichi、Tanaka Yoko、Sasaki Goro、Nagasaki Keisuke、Shiina Masaaki、Ogata Kazuhiro、Masunaga Youhei、Saitsu Hirotomo、Ogata Tsutomu
- Journal Title
  
  Journal of the American Society of Nephrology
  
  Volume: 30 Issue: 5 Pages: 877-889
- DOI
  10.1681/asn.2018121268
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16K08603, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H04204
[Journal Article] Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.2018
- Author(s)
  Shima H, MD*, Koehler K*, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Schuelke M, Huebner A, Narum S
- Journal Title
  
  J Med Genet
  
  Volume: 55 Issue: 2 Pages: 81-85
- DOI
  10.1136/jmedgenet-2017-105020
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H04204
[Journal Article] Protein-altering variants of PTPN2 in childhood-onset Type 1A diabetes2018
- Author(s)
  Okuno M.、Ayabe T.、Yokota I.、Musha I.、Shiga K.、Kikuchi T.、Kikuchi N.、Ohtake A.、Nakamura A.、Nakabayashi K.、Okamura K.、Momozawa Y.、Kubo M.、Suzuki J.、Urakami T.、Kawamura T.、Amemiya S.、Ogata T.、Sugihara S.、Fukami M.、the Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes
- Journal Title
  
  Diabetic Medicine
  
  Volume: 35 Issue: 3 Pages: 376-380
- DOI
  10.1111/dme.13566
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K07137, KAKENHI-PROJECT-16K15491, KAKENHI-PROJECT-17H04204
[Journal Article] STX2 is a causative gene for nonobstructive azoospermia.2018
- Author(s)
  Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M and Fukami M.
- Journal Title
  
  Hum Mutat. (in press)
  
  Volume: 印刷中 Issue: 6 Pages: 0-0
- DOI
  10.1002/humu.23423
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K08603, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17K11194, KAKENHI-PROJECT-17H04204
[Journal Article] Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene2018
- Author(s)
  Ono Hiroyuki、Saitsu Hirotomo、Horikawa Reiko、Nakashima Shinichi、Ohkubo Yumiko、Yanagi Kumiko、Nakabayashi Kazuhiko、Fukami Maki、Fujisawa Yasuko、Ogata Tsutomu
- Journal Title
  
  Scientific Reports
  
  Volume: 8 Issue: 1 Pages: 19-29
- DOI
  10.1038/s41598-018-20691-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10074, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-26461524, KAKENHI-PROJECT-17H04204
[Journal Article] GATA4 variant identified by whole exome sequencing in a Japanese family with atrial septal defect: implications for male sex development.2018
- Author(s)
  Shimizu D, Iwashima S, Sato K, Hayano S, Fukami M, Saitsu H, Ogata T
- Journal Title
  
  Clin Case Rep
  
  Volume: 6 Issue: 11 Pages: 2229-2233
- DOI
  10.1002/ccr3.1851
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H04204
[Journal Article] A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth2018
- Author(s)
  Nakamura Akie、Muroya Koji、Ogata-Kawata Hiroko、Nakabayashi Kazuhiko、Matsubara Keiko、Ogata Tsutomu、Kurosawa Kenji、Fukami Maki、Kagami Masayo
- Journal Title
  
  J Med Genet
  
  Volume: 55 Issue: 8 Pages: 2017-104986
- DOI
  10.1136/jmedgenet-2017-104986
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-17K08689
[Journal Article] De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism2018
- Author(s)
  Hiraide Takuya、Nakashima Mitsuko、Yamoto Kaori、Fukuda Tokiko、Kato Mitsuhiro、Ikeda Hiroko、Sugie Yoko、Aoto Kazushi、Kaname Tadashi、Nakabayashi Kazuhiko、Ogata Tsutomu、Matsumoto Naomichi、Saitsu Hirotomo
- Journal Title
  
  Human Genetics
  
  Volume: 137 Issue: 1 Pages: 95-104
- DOI
  10.1007/s00439-017-1863-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K08513, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17H04204
[Journal Article] Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review.2018
- Author(s)
  Takasawa K, Igarashi M, Ono M, Takemoto A, Takada S, Yamataka A, Ogata T, Morio T, Fukami M, Kashimada K.
- Journal Title
  
  Sexual Development
  
  Volume: 24 Issue: 5-6 Pages: 5-6
- DOI
  10.1159/000485868
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K09979, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17J40246
[Journal Article] GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly.2018
- Author(s)
  Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M*
- Journal Title
  
  Asian J Androl
  
  Volume: 20 Pages: 629-631
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H04204
[Journal Article] GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly.2018
- Author(s)
  Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M
- Journal Title
  
  Asian journal of andrology
  
  Volume: 印刷中 Issue: 6 Pages: 0-0
- DOI
  10.4103/aja.aja_20_18
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09979, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17K11194, KAKENHI-PROJECT-17H06490, KAKENHI-PROJECT-17J40246
[Journal Article] Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology2018
- Author(s)
  Inoue Takanobu、Yagasaki Hideaki、Nishioka Junko、Nakamura Akie、Matsubara Keiko、Narumi Satoshi、Nakabayashi Kazuhiko、Yamazawa Kazuki、Fuke Tomoko、Oka Akira、Ogata Tsutomu、Fukami Maki、Kagami Masayo
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 印刷中 Issue: 6 Pages: 413-418
- DOI
  10.1136/jmedgenet-2018-105463
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K08689, KAKENHI-PROJECT-16H05362, KAKENHI-PROJECT-17H04204
[Journal Article] Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency2018
- Author(s)
  Ono Hiroyuki、Numakura Chikahiko、Homma Keiko、Hasegawa Tomonobu、Tsutsumi Seiji、Kato Fumiko、Fujisawa Yasuko、Fukami Maki、Ogata Tsutomu
- Journal Title
  
  The Journal of Steroid Biochemistry and Molecular Biology
  
  Volume: 178 Pages: 177-184
- DOI
  10.1016/j.jsbmb.2017.12.008
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-26461524
[Journal Article] Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.2018
- Author(s)
  Montalbano A, Juergensen L, Fukami M, Thiel, CT, Hauer NH, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold GA*
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 26 Issue: 8 Pages: 1113-1120
- DOI
  10.1038/s41431-018-0148-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H04204
[Journal Article] Gain-of-function mutations in G-protein coupled receptor genes associated with human endocrine disorders.2018
- Author(s)
  Fukami M, Suzuki E, Igarashi M, Miyado M and Ogata T.
- Journal Title
  
  Clin Endocrinol (Oxf).
  
  Volume: 88 Issue: 3 Pages: 351-359
- DOI
  10.1111/cen.13496
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K08603, KAKENHI-PROJECT-16K09979, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17J40246, KAKENHI-PROJECT-17H04204
[Journal Article] 11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome2018
- Author(s)
  Yoshida T, Matsuzaki T, Miyado M, Saito K, Iwasa T, Matsubara Y, Ogata T, Irahara M, Fukami M.
- Journal Title
  
  Endocr J
  
  Volume: 65 Issue: 10 Pages: 979-990
- DOI
  10.1507/endocrj.EJ18-0212
- NAID
  130007501323
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K11194, KAKENHI-PROJECT-18K09264, KAKENHI-PROJECT-18K09293, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-16K08603
[Journal Article] Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients2018
- Author(s)
  Kawashima Sayaka、Nakamura Akie、Inoue Takanobu、Matsubara Keiko、Horikawa Reiko、Wakui Keiko、Takano Kyoko、Fukushima Yoshimitsu、Tatematsu Toshi、Mizuno Seiji、Tsubaki Junko、Kure Shigeo、Matsubara Yoichi、Ogata Tsutomu、Fukami Maki、Kagami Masayo
- Journal Title
  
  The Journal of Clinical Endocrinology & Metabolism
  
  Volume: 103 Issue: 6 Pages: 2083-2088
- DOI
  10.1210/jc.2017-02780
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616, KAKENHI-PROJECT-17H04204
[Journal Article] Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform2018
- Author(s)
  Hernandez Mora Jose R、Tayama Chiharu、S?nchez-Delgado Marta、Monteagudo-S?nchez Ana、Hata Kenichiro、Ogata Tsutomu、Medrano Jose、Poo-Llanillo Maria E、Sim?n Carlos、Moran Sebastian、Esteller Manel、Tenorio Jair、Lapunzina Pablo、Kagami Masayo、Monk David、Nakabayashi Kazuhiko
- Journal Title
  
  Epigenomics
  
  Volume: 10 Issue: 7 Pages: 941-954
- DOI
  10.2217/epi-2017-0172
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K08689, KAKENHI-PROJECT-17H01588, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-18H03556
[Journal Article] Congenital limb deficiency in Japan: a cross-sectional nationwide survey on its epidemiology2018
- Author(s)
  Mano Hiroshi、Fujiwara Sayaka、Takamura Kazuyuki、Kitoh Hiroshi、Takayama Shinichiro、Ogata Tsutomu、Hashimoto Shuji、Haga Nobuhiko
- Journal Title
  
  BMC Musculoskeletal Disorders
  
  Volume: 19 Issue: 1 Pages: 262-262
- DOI
  10.1186/s12891-018-2195-3
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K17890, KAKENHI-PROJECT-16H05446, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-17H04312, KAKENHI-PROJECT-18H03125
[Journal Article] Longitudinal Serum and Urine Steroid Metabolite Profiling in a 46,XY Infant with Prenatally Identified POR Deficiency.2018
- Author(s)
  Ono H, Numakura C, Homma K, Hasegwa T, Tsutsumi S, Kato F, Fujisawa Y, Fukami M, Ogata T*
- Journal Title
  
  Steroid Biochem Mol Biol
  
  Volume: 178 Pages: 177-184
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H04204
[Journal Article] Expression of xenobiotic biomarkers CYP1 family in preputial tissue of patients with hypospadias and phimosis and its association with DNA methylation level of SRD5A2 minimal promoter.2018
- Author(s)
  Ohsako S, Aiba T, Miyado M, Fukami M, Ogata T, Hayashi Y, Mizuno K and Kojima Y.
- Journal Title
  
  Arch Environ Contam Toxicol.
  
  Volume: 74 Issue: 2 Pages: 240-247
- DOI
  10.1007/s00244-017-0466-x
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K08603, KAKENHI-PLANNED-17H06396, KAKENHI-PROJECT-17K11194, KAKENHI-PROJECT-17K11204, KAKENHI-ORGANIZER-17H06391, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15H02830
[Journal Article] Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations2018
- Author(s)
  Kurata Kentaro、Hosono Katsuhiro、Hikoya Akiko、Kato Akihiko、Saitsu Hirotomo、Minoshima Shinsei、Ogata Tsutomu、Hotta Yoshihiro
- Journal Title
  
  Japanese Journal of Ophthalmology
  
  Volume: 62 Issue: 4 Pages: 458-466
- DOI
  10.1007/s10384-018-0591-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K11447, KAKENHI-PROJECT-17K11479, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-16K11284
[Journal Article] Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome2017
- Author(s)
  Haug Marte G.、Brendehaug Atle、Houge Gunnar、Kagami Masayo、Ogata Tsutomu
- Journal Title
  
  Clin Case Rep
  
  Volume: 6 Issue: 1 Pages: 91-95
- DOI
  10.1002/ccr3.1300
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15K15096
[Journal Article] A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a2017
- Author(s)
 Suzuki Erina、Bo Ryosuke、Sue Kaori、Awano Hiroyuki、Ogata Tsutomu、Narumi Satoshi、Kagami Masayo、Sano Shinichiro、Fukami Maki
- Journal Title
 
 Cytogenetic and Genome Research
 
 Volume: 153 Issue: 3 Pages: 125-130
- DOI
 10.1159/000485644
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-17H03616, KAKENHI-PROJECT-26461537, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-17H04204
[Journal Article] Diagnosis and management of Silver?Russell syndrome: first international consensus statement2017
- Author(s)
  Wakeling Emma L、Brioude Frdric、Lokulo-Sodipe Oluwakemi、O'Connell Susan M.、Salem Jennifer、Bliek Jet、Canton Ana P. M.、Chrzanowska Krystyna H.、Davies Justin H.、Dias Renuka P.、Tsutomu Ogata
- Journal Title
  
  Nat Rev Endocrinol
  
  Volume: 13 Issue: 2 Pages: 105-124
- DOI
  10.1038/nrendo.2016.138
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15K15096
[Journal Article] Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes2017
- Author(s)
  Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S
- Journal Title
  
  Pediatric Diabetes
  
  Volume: 19 Issue: 2 Pages: 243-250
- DOI
  10.1111/pedi.12544
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K15491, KAKENHI-PROJECT-17H04204
[Journal Article] FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism2017
- Author(s)
  Yamoto Kaori、Okamoto Shingo、Fujisawa Yasuko、Fukami Maki、Saitsu Hirotomo、Ogata Tsutomu
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 176 Issue: 1 Pages: 139-143
- DOI
  10.1002/ajmg.a.38535
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-26461524, KAKENHI-PROJECT-17H04204
[Journal Article] (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I2017
- Author(s)
  Sano Shinichiro、Nakamura Akie、Matsubara Keiko、Nagasaki Keisuke、Fukami Maki、Kagami Masayo、Ogata Tsutomu
- Journal Title
  
  J Endocr Soc
  
  Volume: 2 Issue: 1 Pages: 9-23
- DOI
  10.1210/js.2017-00293
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-26461537, KAKENHI-PROJECT-15K15096
[Journal Article] De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly2017
- Author(s)
  Yamoto Kaori、Saitsu Hirotomo、Nakagawa Norio、Nakajima Hisakazu、Hasegawa Tatsuji、Fujisawa Yasuko、Kagami Masayo、Fukami Maki、Ogata Tsutomu
- Journal Title
  
  Human mutation
  
  Volume: 38 Issue: 8 Pages: 953-958
- DOI
  10.1002/humu.23253
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10074, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15K01686, KAKENHI-PROJECT-26461524, KAKENHI-PROJECT-15K15096
[Journal Article] Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.2017
- Author(s)
  Nakamura S, Miyado M, Saito M, Katsumi M, Nakamura A, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Okada H, Hata K, Nakabayashi K, Okamura K, Ogata H, Matsubara Y, Ogata T, Nakai H and Fukami M.
- Journal Title
  
  Andrology.
  
  Volume: 5 Issue: 4 Pages: 824-831
- DOI
  10.1111/andr.12378
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16K08603, KAKENHI-PROJECT-17K11194, KAKENHI-PLANNED-17H06428
[Journal Article] Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients2017
- Author(s)
  Kagami Masayo、Nagasaki Keisuke、Kosaki Rika、Horikawa Reiko、Naiki Yasuhiro、Saitoh Shinji、Tajima Toshihiro、Yorifuji Tohru、Numakura Chikahiko、Mizuno Seiji、Nakamura Akie、Matsubara Keiko、Fukami Maki、Ogata Tsutomu
- Journal Title
  
  Genet Med
  
  Volume: 19 Issue: 12 Pages: 1356-1366
- DOI
  10.1038/gim.2017.53
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096
[Journal Article] Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.2017
- Author(s)
  Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M.
- Journal Title
  
  Clin Epigenetics
  
  Volume: 9 Issue: 1 Pages: 52-52
- DOI
  10.1186/s13148-017-0350-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16H05362, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15K01686, KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-15K15478
[Journal Article] 軟骨毛髪低形成症2016
- Author(s)
  小野裕之、緒方勤
- Journal Title
  
  日本臨床
  
  Volume: 36 Pages: 228-230
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.2016
- Author(s)
  Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M
- Journal Title
  
  J Hum Genet
  
  Volume: 未定 Issue: 7 Pages: 585-591
- DOI
  10.1038/jhg.2016.18
- NAID
  40020883994
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-16K09989
[Journal Article] Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus methylation defects: a female-dominant phenomenon?2016
- Author(s)
  Sano S, Nagasaki K, Kikuchi T, Nakabayashi K, Hata K, Fukami M, Kagami M, Ogata T
- Journal Title
  
  J Hum Genet
  
  Volume: 未定
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] SHOX Haploinsufficiency as a Cause of Syndromic and Non-Syndromic Short Stature.2016
- Author(s)
  Fukami M. Seki A, Ogata T
- Journal Title
  
  Mol Syndromol
  
  Volume: 未定
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Multiple Androgen Biosynthesis Pathways Are Operating in Women with Polycystic Ovary Syndrome.2016
- Author(s)
  Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Kubota T, Irahara M, Ogata T, Fukami M
- Journal Title
  
  J Steroid Biochem Mol Biol
  
  Volume: 158 Pages: 31-37
- DOI
  10.1016/j.jsbmb.2016.02.010
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26870887, KAKENHI-PROJECT-26293224, KAKENHI-PROJECT-15K10672, KAKENHI-PROJECT-15K10673
[Journal Article] Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma.2016
- Author(s)
  Fujisawa Y, Sakaguchi K, Ono H, Yamaguchi R, Kato F, Kagami M, Fukami M, Ogata T.
- Journal Title
  
  J Steroid Biochem Mol Biol.
  
  Volume: 159 Pages: 86-93
- DOI
  10.1016/j.jsbmb.2016.02.031
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461524, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-15K15096
[Journal Article] Genotype-phenotype correlation of the PAX6 gene mutations in aniridia2016
- Author(s)
  Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y, Azuma N.
- Journal Title
  
  Human Genome Variation
  
  Volume: 3 Issue: 1 Pages: 15052-15052
- DOI
  10.1038/hgv.2015.52
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26462659, KAKENHI-PROJECT-15H02566, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25462767, KAKENHI-PROJECT-15K15640, KAKENHI-PROJECT-16K11309
[Journal Article] Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.2016
- Author(s)
  Luk H-M, Lo F-M I, Sano S, Matsbara K, Nakamura A, Ogata T, Kagami M
- Journal Title
  
  A, J Med Genet A.
  
  Volume: 未定
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.2016
- Author(s)
  Matsubara K, Murakami N, Fukami M, Kagami M, Nagai T, Ogata T
- Journal Title
  
  Clin Genet.
  
  Volume: 89(5) Issue: 5 Pages: 614-619
- DOI
  10.1111/cge.12691
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-15K09734
[Journal Article] Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate-for-gestational age.2016
- Author(s)
  Okuno M, Yorifuji T, Kagami M, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Toru Kikuchi, Amemiya S, Suzuki J, Ogata T, Sugihara S, Fukami M and The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT)
- Journal Title
  
  Clin Pediatr Endocrinol
  
  Volume: 未定
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Growth references for Japanese individuals with Noonan syndrome.2016
- Author(s)
  Isojima T, Sakazume S, Haegawa T, Ogata T, Nakanishi T, Nagai T, Yokoya S
- Journal Title
  
  Pediatr Res
  
  Volume: 79 Issue: 4 Pages: 543-548
- DOI
  10.1038/pr.2015.254
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Blood allopregnanolone levels in women with polycystic ovary syndrome.2016
- Author(s)
  Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Kubota T, Irahara M, Ogata T, Fukami M*
- Journal Title
  
  Clin Endocrinol
  
  Volume: 未定 Issue: 1 Pages: 151-152
- DOI
  10.1111/cen.13080
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26870887, KAKENHI-PROJECT-15K10672, KAKENHI-PROJECT-15K10673
[Journal Article] Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.2016
- Author(s)
  Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y.
- Journal Title
  
  Hum Genet.
  
  Volume: 135 Issue: 2 Pages: 209-222
- DOI
  10.1007/s00439-015-1627-5
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26461538, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26670490, KAKENHI-PROJECT-26293241
[Journal Article] Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.2016
- Author(s)
  Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 未定
- NAID
  40020938230
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Copy-number variations of the azoospermia factor region or SRY are not associated with the risk of hypospadias.2016
- Author(s)
  Kon M, Saio K, Mitsui T, Miyado M, Igarashi M, Moriya K, Nonomura K, Shinohara M, Ogata T, Fukami M
- Journal Title
  
  Sex Dev
  
  Volume: 未定
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency.2015
- Author(s)
  Fujisawa Y, Napoli E, Wong S, Song G, Yamaguchi R, Matsui T, Nagasaki K, Ogata T, Giulivi C
- Journal Title
  
  BBA Clinical
  
  Volume: 1 Pages: 70-78
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Copy-number variations in Y chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification2015
- Author(s)
  Saito K, Miyado M, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito H, Kubota T, Okada H, Ogata T, Fukami M
- Journal Title
  
  J Hum Genet
  
  Volume: 60(3) Issue: 3 Pages: 127-31
- DOI
  10.1038/jhg.2014.115
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25670173, KAKENHI-PROJECT-26293224, KAKENHI-PROJECT-26870887, KAKENHI-PROJECT-25253023
[Journal Article] Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency.2015
- Author(s)
  Fujisawa Y, Napoli E, Wong S, Song G, Yamaguchi R, Matsui T, Nagasaki K, Ogata T, Giulivi C
- Journal Title
  
  BBA clinical
  
  Volume: 3 Pages: 70-78
- DOI
  10.1016/j.bbacli.2014.12.003
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-23791164, KAKENHI-PROJECT-25253023
[Journal Article] Development of waist circumference percentiles for Japanese children and an examination of their screening utility for childhood metabolic syndrome: a population-based cross-sectional study.2015
- Author(s)
  Matsushita R, Isojima T, Takaya R, Satake E, Yamaguchi R, Kitsuda K, Nagata E, Sano S, Nakanishi T, Nakagawa Y, Ohzeki T, Ogata T, Fujisawa Y.
- Journal Title
  
  BMC Public Health
  
  Volume: 13 Issue: 1 Pages: 1121-1121
- DOI
  10.1186/s12889-015-2447-1
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461524, KAKENHI-PROJECT-25253023
[Journal Article] Endocrinopathies in a Boy with Cryptic Copy-number Variations on 4q, 7q, and Xp.2015
- Author(s)
  Okuno M, Ogata T, Nakabayashi K, Urakami T, Fukami M, Nagasaki K
- Journal Title
  
  Hum Genome Variat.
  
  Volume: 2 Issue: 1 Pages: 15020-15020
- DOI
  10.1038/hgv.2015.20
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Molecular basis of non-syndromic hypospadias: Systematic mutation screening and genome-wide copy-number analysis of 62 patients.2015
- Author(s)
  Kon M, Suzu ki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami M
- Journal Title
  
  Hum Reprod
  
  Volume: 30(3) Issue: 3 Pages: 499-506
- DOI
  10.1093/humrep/deu364
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26293224, KAKENHI-PROJECT-26860837, KAKENHI-PROJECT-15K06917
[Journal Article] SOX3 overdosage permits normal sex development in females with random X inactivation2015
- Author(s)
  Igarashi M, Mikami H, Katsumi M, Miyado M, Izumi Y, Ogata T, Fukami M
- Journal Title
  
  Sex Dev
  
  Volume: 3 Issue: 3 Pages: 1-1
- DOI
  10.1159/000377653
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26860837
[Journal Article] Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.2015
- Author(s)
  Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wolczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF Jr
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 100 Issue: 10 Pages: E1378-E1385
- DOI
  10.1210/jc.2015-2262
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.2015
- Author(s)
  Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R, Jinno T, Katsumi M, Nakamura A, Asakura Y, Adachi M, Ogata T, Kanzaki S; Japanese SHOX study group
- Journal Title
  
  J Hum Genet
  
  Volume: 60 Issue: 9 Pages: 553-556
- DOI
  10.1038/jhg.2015.53
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)2015
- Author(s)
  Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 2 Issue: 11 Pages: 1-8
- DOI
  10.1038/ejhg.2015.13
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23221010, KAKENHI-PROJECT-26461538, KAKENHI-PROJECT-15K15096, KAKENHI-PUBLICLY-15H01468, KAKENHI-PROJECT-25253023
[Journal Article] 性の分化および生殖発生遺伝学2015
- Author(s)
  緒方勤
- Journal Title
  
  産婦人科の実際
  
  Volume: 64 Pages: 391-396
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.2015
- Author(s)
  Suzuki E, Izumi Y, Chiba Y, Horikawa R, Matsubara Y, Tanaka M, Ogata T, Fukami M, Naiki Y.
- Journal Title
  
  Hormone Research in Paediatrics
  
  Volume: 84 Issue: 3 Pages: 212-216
- DOI
  10.1159/000436965
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19538, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26293224
[Journal Article] Lack of Skeletal Dysplasia in Patients with Missense Mutations and Upstream Deletion of SOX9.2015
- Author(s)
  Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, and Fukami M
- Journal Title
  
  Molecular Genetics & Genomic Medicine
  
  Volume: 3 Issue: 6 Pages: 550-557
- DOI
  10.1002/mgg3.165
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K06917, KAKENHI-PROJECT-15K19439, KAKENHI-PROJECT-15K19538, KAKENHI-PLANNED-22132002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26860837, KAKENHI-PROJECT-26870887, KAKENHI-PROJECT-26293224
[Journal Article] Novel splice site mutation in MAMLD1 in a patient with hypospadias.2015
- Author(s)
  10.1038/ejhg.2015.13
- Journal Title
  
  Sex Dev
  
  Volume: 3 Issue: 3 Pages: 1-1
- DOI
  10.1159/000380842
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-26860837, KAKENHI-PROJECT-26462421, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25462541, KAKENHI-PROJECT-25670686, KAKENHI-PROJECT-24390372
[Journal Article] Detecting copy number variations in whole exome sequencing data using exome hidden markov model - an expectation of “exome-first” approach.2015
- Author(s)
  Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
- Journal Title
  
  J Hum Genet
  
  Volume: 1 Issue: 4 Pages: 124-124
- DOI
  10.1038/jhg.2014.124
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26461549, KAKENHI-PROJECT-15K19660, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-25293235
[Journal Article] Human chorionic gonadotropin stimulation test in prepubertal children with micropenis can accurately predict Leydig cell function in pubertal or postpubertal adolescents.2015
- Author(s)
  Ishii T, Matsuo N, Amano N, Hori N, Inokuchi M, Sasaki G, Kamimaki T, Anzo M, Tamai S, Ogata T, Sato S, Hasegawa T
- Journal Title
  
  Horm Res Paediatr
  
  Volume: 87 Issue: 5 Pages: 305-310
- DOI
  10.1159/000439234
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads2015
- Author(s)
  Nomura R, Miyai K, Okada M, Kajiwara M, Ono M, Ogata T, Onishi I, Sato M, Sekine M, Akashi T, Mizutani S, Kashimada K
- Journal Title
  
  Clinical Pediatric Endocrinology
  
  Volume: 24 Issue: 1 Pages: 11-14
- DOI
  10.1297/cpe.24.11
- NAID
  130004853607
- ISSN
  0918-5739, 1347-7358
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-15K09615
[Journal Article] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions.2015
- Author(s)
  Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T, Yamazawa K.
- Journal Title
  
  Clin Epigenetics
  
  Volume: 28;7(1) Issue: 1 Pages: 90-90
- DOI
  10.1186/s13148-015-0124-y
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-15K15478, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25713040
[Journal Article] Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib2015
- Author(s)
  Sano S, Iwata H, Matsubara K, Fukami M, Kagami M, Ogata T.
- Journal Title
  
  Endocr J
  
  Volume: 62 Issue: 6 Pages: 523-529
- DOI
  10.1507/endocrj.EJ15-0033
- NAID
  130005085768
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-25253023
[Journal Article] Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.2015
- Author(s)
  Nagata E, Haga N, Fujisawa Y, Fukami M, Nishimura G, Ogata T.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 167 Issue: 12 Pages: 3226-3228
- DOI
  10.1002/ajmg.a.37290
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461524, KAKENHI-PROJECT-26870255, KAKENHI-PROJECT-25253023
[Journal Article] Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).2015
- Author(s)
  Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T
- Journal Title
  
  Eur J Hum Genet.
  
  Volume: 23(11) Issue: 2 Pages: 1488-1498
- DOI
  10.1038/jhg.2015.113
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-25253023
[Journal Article] Hemodynamic assessment in a child with renovascular hypertension using time-resolved three-dimensional cine phase-contrast MRI2015
- Author(s)
  Ishikawa T*, Takehara Y, Yamashita S, Iwashima S, Sugiyama M, Wakayama T, Johnson K, Wieben O, Sakahara H, Ogata T
- Journal Title
  
  J Magn Reson Imaging
  
  Volume: 41(1) Issue: 1 Pages: 165-168
- DOI
  10.1002/jmri.24522
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-25253023
[Journal Article] インプリンティング疾患発症機序について2015
- Author(s)
  緒方勤
- Journal Title
  
  脳と発達
  
  Volume: 47 Pages: 17-22
- NAID
  130005005773
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.2015
- Author(s)
  Asahina M, Endoh Y, Matsubayashi T, Fukuda T, Ogata T
- Journal Title
  
  Brain Dev
  
  Volume: 38 Issue: 3 Pages: 337-340
- DOI
  10.1016/j.braindev.2015.09.006
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C2015
- Author(s)
  Nakashima S, Kato F, Kosho T, Nagasaki K, Kikuchi T, Kagami M, Fukami M, Ogata T
- Journal Title
  
  J Hum Genet
  
  Volume: 60(2) Issue: 2 Pages: 91-95
- DOI
  10.1038/jhg.2014.100
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] MAMLD1：胎生期精巣におけるステロイドホルモン産生の新規調節因子．2015
- Author(s)
  宮戸真美、宮戸健二、緒方勤、深見真紀
- Journal Title
  
  日本生殖内分泌学会雑誌
  
  Volume: 20 Pages: 19-24
- NAID
  40020590072
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Parturition failure in mice lacking Mamld1.2015
- Author(s)
  Miyado M, Miyado K, Katsumi M, Saito K, Nakamura A, Shihara D, Ogata T, Fukami M.
- Journal Title
  
  Scientific Reports
  
  Volume: 5 Issue: 1 Pages: 14705-14705
- DOI
  10.1038/srep14705
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26670733, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26870887, KAKENHI-PROJECT-26293363
[Journal Article] 身長の性差2015
- Author(s)
  緒方勤
- Journal Title
  
  チャイルドヘルス
  
  Volume: 18 Pages: 41-45
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] 小児期発症の神経サルコイドーシスが疑われる2例2015
- Author(s)
  平出拓也、福田冬季子、松林朋子、石垣英俊、朝比奈美輝、田口智英、宮本健、緒方勤
- Journal Title
  
  日小児会誌
  
  Volume: 119 Pages: 1095-1101
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] ヒトインプリンティング異常症発症機序：Kagami-Ogata syndrome / Temple syndromeを主として．2015
- Author(s)
  緒方勤
- Journal Title
  
  ホルモンと臨床
  
  Volume: 61 Pages: 69-78
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Microhomology-Mediated Microduplication in the Y Chromosomal Azoospermia Factor a (AZFa) Region in a Male with Mild Asthenozoospermia.2015
- Author(s)
  Katsumi M, Ishikawa H, Tanaka Y, Saito K, Kobori Y, Okada H, Saito H, Nakabayashi K, Matsubara Y, Ogata T, Fukami M, Miyado M
- Journal Title
  
  Cytogenet Genome Res
  
  Volume: 3 Issue: 4 Pages: 1-1
- DOI
  10.1159/000377649
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25670173, KAKENHI-PROJECT-26293224, KAKENHI-PROJECT-26870887
[Journal Article] 生殖補助医療と小児科とのかかわり．2015
- Author(s)
  6.緒方勤
- Journal Title
  
  小児科臨床
  
  Volume: 68 Pages: 13-20
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] 遺伝子解析と遺伝カウンセリング．2015
- Author(s)
  緒方勤、深見真紀
- Journal Title
  
  産婦人科の実際（いま、性分化とその異常を考える）
  
  Volume: 64 Pages: 1301-1307
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Klippel-Feil症候群2015
- Author(s)
  小野裕之、緒方勤
- Journal Title
  
  Clinical Neuroscience
  
  Volume: 33 Pages: 440-441
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), -21.2014
- Author(s)
  Yagasaki H*, Nakane T, Saito T, Koizumi K, Kobayashi K, Ogata T
- Journal Title
  
  Am J Med Genet A
  
  Volume: 164 Issue: 3 Pages: 841-843
- DOI
  10.1002/ajmg.a.36354
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancer.2014
- Author(s)
  Fukami M*, Suzuki J, Nakabayashi K, Tsunashima R, Ogata T, Shozu M, Noguchi S
- Journal Title
  
  Breast Cancer
  
  Volume: 21 (3) Issue: 3 Pages: 382-385
- DOI
  10.1007/s12282-013-0471-5
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390249, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25253092
[Journal Article] Review: Understanding the pathological manifestations of aromatase excess syndrome: lessons for the clinic.2014
- Author(s)
  M. Shozu, M. Fukami and T. Ogata
- Journal Title
  
  Expert Rev. Endocrinol. Metab.
  
  Volume: 9 Issue: 4 Pages: 397-409
- DOI
  10.1586/17446651.2014.926810
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25253092
[Journal Article] Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.2014
- Author(s)
  Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura KI, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, et al.
- Journal Title
  
  Orphanet J Rare Dis
  
  Volume: 9 Issue: 1 Pages: 125-125
- DOI
  10.1186/s13023-014-0125-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22129006, KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26253057, KAKENHI-PROJECT-26870255
[Journal Article] IMAGe syndrome: clinical and genetic implications based on Iinvestigations in three Japanese patients.2014
- Author(s)
  Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T
- Journal Title
  
  Clin Endocrinol
  
  Volume: 80 (5) Issue: 5 Pages: 706-713
- DOI
  10.1111/cen.12379
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] A missense single-nucleotide polymorphism in the sialic acid acetyl esterase gene is associated with anti-PIT-1 antibody syndrome.2014
- Author(s)
  Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, Takahashi M, Nishizawa H, Matsumoto R, Tojo K, Mokubo A, Ogata T, Takahashi Y*
- Journal Title
  
  Endocr J
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-like Craniofacial Features and Hypocalcemia.2014
- Author(s)
  Ogata T*, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashim S, Kato F, Fukami M, Aoki Y, Matsubara Y
- Journal Title
  
  PLoS One
  
  Volume: 9 Issue: 3 Pages: e91598-e91598
- DOI
  10.1371/journal.pone.0091598
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23791148, KAKENHI-PLANNED-24119005, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26830064
[Journal Article] Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancer2014
- Author(s)
  M. Fukami, J. Suzuki, K. Nakabayashi, R. Tsunashima, T. Ogata, M. Shozu, S. Noguchi
- Journal Title
  
  Breast Cancer
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of the human imprintome and suggests a germline methylation independent establishment of imprinting.2014
- Author(s)
  Court F, Tayama C, Romanelli V, Martin-Trujillo A, Iglesias-Platas I, Okamura K, Sugahara N, Simon C, Moore H, Harness J, Keirstead H, Vicente Sanchez-Mut J, Kaneki E, Lapunzina P, Soejima H, Wake N, Esteller M, Ogata T, Hata K, Nakabayashi K, Monk D*
- Journal Title
  
  Genome Res
  
  Volume: in press Issue: 4 Pages: 554-569
- DOI
  10.1101/gr.164913.113
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23249075, KAKENHI-PROJECT-23770273, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25460409, KAKENHI-PROJECT-26670169
[Journal Article] Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.2014
- Author(s)
  Nakashima S, Oishi A, Takada F, Kawamura H, Igarashi M, Fukami M, Ogata T
- Journal Title
  
  J Hum Genet
  
  Volume: 59(10) Issue: 10 Pages: 549-553
- DOI
  10.1038/jhg.2014.70
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26860837, KAKENHI-PROJECT-25860905
[Journal Article] Prenatal Genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to upd(14)pat-like phenotype.2014
- Author(s)
  Sasaki A, Sumie M, Eada S, Kosaki R, Kurosawa K, Fukami M, Sago H, Ogata T, Kagami M*
- Journal Title
  
  Am J Med Genet A
  
  Volume: 164A Issue: 1 Pages: 264-266
- DOI
  10.1002/ajmg.a.36185
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390083, KAKENHI-PROJECT-25253023
[Journal Article] Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder.2014
- Author(s)
  Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M*, Katsumata N
- Journal Title
  
  Endocr J
  
  Volume: 61 (6) Pages: 629-633
- NAID
  130004770452
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations2014
- Author(s)
  Maeda T, Higashimoto K, Jozaki K, Hitomi H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H
- Journal Title
  
  Genet Med
  
  Volume: 16(12) Issue: 12 Pages: 903-912
- DOI
  10.1038/gim.2014.46
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25460409, KAKENHI-PROJECT-25461554, KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-25860898, KAKENHI-PROJECT-26670169
[Journal Article] Hypogonadotropic hypogonadism in a female patient previously diagnosed as having Waardenburg syndrome due to a SOX10 mutation2014
- Author(s)
  Izumi Y, Musha I, Suzuki E, Iso M, Jinno T, Horikawa R, Amemiya S, Ogata T, Fukami M, Ohtake A
- Journal Title
  
  Endocrine
  
  Volume: 10 Issue: 2 Pages: 1-1
- DOI
  10.1007/s12020-014-0434-4
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] A missense single-nucleotide polymorphism in the sialic acid acetyl esterase gene is associated with anti-PIT-1 antibody syndrome.2014
- Author(s)
  Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, Takahashi M, Nishizawa H, Matsumoto R, Tojo K, Mokubo A, Ogata T, Takahashi Y*
- Journal Title
  
  Endocr J
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Mutation Spectrum and Phenotypic Variation in Nine Patients with SOX2 abnormalities2014
- Author(s)
  Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T, Fukami M
- Journal Title
  
  J Hum Genet
  
  Volume: 59 (6) Issue: 6 Pages: 353-356
- DOI
  10.1038/jhg.2014.34
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-25253023
[Journal Article] Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder.2014
- Author(s)
  Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M*, Katsumata N
- Journal Title
  
  Endocr J
  
  Volume: 61 (6) Pages: 629-633
- NAID
  130004770452
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder2014
- Author(s)
 K. Matsubara, N. Kataoka, S. Ogita, S. Sano, T. Ogata, M. Fukami and N. Katsumata
- Journal Title
 
 Endocr J
 
 Volume: 61 Issue: 6 Pages: 629-633
- DOI
 10.1507/endocrj.EJ13-0509
- NAID
 130004770452
- ISSN
 0918-8959, 1348-4540
- Language
 English
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
 KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23591523, KAKENHI-PROJECT-25860898
[Journal Article] Review: Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects.2014
- Author(s)
  M. Fukami and T. Ogata
- Journal Title
  
  Pediatr. Int.
  
  Volume: 56 Issue: 6 Pages: 805-808
- DOI
  10.1111/ped.12518
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] Review: Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia2014
- Author(s)
  M. Fukami, M. Miyado, K. Nagasaki, M. Shozu, T. Ogata
- Journal Title
  
  Pediatr. Endocr. Rev.
  
  Volume: 11 Pages: 298-305
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] A missense single-nucleotide polymorphism in the sialic acid acetyl esterase gene is associated with anti–PIT-1 antibody syndrome.2014
- Author(s)
  Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, Takahashi M, Nishizawa H, Matsumoto R, Tojo K, Mokubo A, Ogata T, Takahashi Y
- Journal Title
  
  Endocr J
  
  Volume: 61 (6) Pages: 641-644
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] A missense single-nucleotide polymorphism in the sialic acid acetylesterase (SIAE) gene is associated with anti–PIT-1 antibody syndrome2014
- Author(s)
 Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, Takahashi M, Nishizawa H, Matsumoto R, Tojo K, Mokubo A, Ogata T, Takahashi Y
- Journal Title
 
 Endocr J
 
 Volume: 61 Issue: 6 Pages: 641-644
- DOI
 10.1507/endocrj.EJ13-0539
- NAID
 130004770453
- ISSN
 0918-8959, 1348-4540
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23591354, KAKENHI-PROJECT-25253023
[Journal Article] Rationale and study design of the Japan environment and children’s study (JECS)2014
- Author(s)
  Kawamoto T, Nitta H, Murata K, Toda E, Tsukamoto N, Hasegawa M, Yamagata Z, Kayama F, Kshi R, Ohya Y, Saito H, Sago H, Okuyama M, Ogata T, Yokoya S, Koresawa Y, Shibata Y, Nakayama S, Michikawa T, Takeuchi A, Saitoh H
- Journal Title
  
  BMC Public Health
  
  Volume: 14 Issue: 1 Pages: 25-25
- DOI
  10.1186/1471-2458-14-25
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25330039
[Journal Article] Hypertrophic cells in hypophagic intrauterine growth retarded rats without catch-up growth2014
- Author(s)
  K. Kitsuda, R. Yamaguchi, E. Nagata, Y. Nakagawa, T. Ohzeki, T. Ogata, T. Nakanishi
- Journal Title
  
  Kitasato Med. J.
  
  Volume: 44 Pages: 38-46
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Mutation Spectrum and Phenotypic Variation in Nine Patients with SOX2 abnormalities.2014
- Author(s)
  Fukami M*, Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T
- Journal Title
  
  J Hum Genet
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism2014
- Author(s)
  Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M*
- Journal Title
  
  Fertil Steril
  
  Volume: 102 (4) Pages: 1130-1136
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Identification and Functional Characterization of Two Novel NPR2 Mutations in Japanese Patients with Short Stature.2014
- Author(s)
  Amano N, Mukai T, Ito Y, Narumi S, Tanaka T, Yokoya S, Ogata T, Hasegawa T*
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: Epub ahead of print Issue: 4 Pages: E713-E718
- DOI
  10.1210/jc.2013-3525
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism2014
- Author(s)
  Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M
- Journal Title
  
  Fertil Steril
  
  Volume: 102(4) Issue: 4 Pages: 1130-1136
- DOI
  10.1016/j.fertnstert.2014.06.017
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-24390381, KAKENHI-PROJECT-24591512, KAKENHI-PROJECT-25670706, KAKENHI-PROJECT-25860891, KAKENHI-PROJECT-26293224, KAKENHI-PROJECT-26860837
[Journal Article] Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell syndrome-compatible phenotype2014
- Author(s)
  Kagami M, Mizuno S, Matsubars K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 11 Issue: 8 Pages: 1-6
- DOI
  10.1038/ejhg.2014.234
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25860898, KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-25253023
[Journal Article] Mutation Spectrum and Phenotypic Variation in Nine Patients with SOX2 abnormalities.2014
- Author(s)
  Fukami M*, Suzuki J, Azuma N, Dateki S, Soneda S, Muroya K, Yamamoto Y, Saito R, Sano S, Nagai T, Wada H, Endo A, Urakami T, Ogata T:
- Journal Title
  
  J Hum Genet
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] A missense single-nucleotide polymorphism in the sialic acid acetyl esterase gene is associated with anti-PIT-1 antibody syndrome.2014
- Author(s)
  Yamamoto M, Iguchi G, Bando H, Fukuoka H, Suda K, Takahashi M, Nishizawa H, Matsumoto R, Tojo K, Mokubo A, Ogata T, Takahashi Y
- Journal Title
  
  Endocr J
  
  Volume: 61 (6) Pages: 641-644
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Early vitamin K deficiency bleeding in a neonate associated with maternal Crohn's disease2014
- Author(s)
  Ohishi A, Nakashima S, Ogata T, Iijima S
- Journal Title
  
  J Perinatol
  
  Volume: 34(8) Issue: 8 Pages: 636-639
- DOI
  10.1038/jp.2014.64
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder2014
- Author(s)
  K. Matsubara, N. Kataoka, S. Ogita, S. Sano, T. Ogata, M. Fukami, N. Katsumata
- Journal Title
  
  Endocr. J.
  
  Volume: 印刷中
- NAID
  130004770452
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Aromatase excess syndrome in a family with upstream deletion of CYP19A12013
- Author(s)
  Shihara D, Miyado M, Nakabayashi K, Shozu M, Nagasaki K, Ogata T, Fukami M*
- Journal Title
  
  Clin Endocrinol,
  
  Volume: Epub ahead of print Issue: 2 Pages: 314-316
- DOI
  10.1111/cen.12329
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390249, KAKENHI-PROJECT-23659772, KAKENHI-PROJECT-24790303, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25253092
[Journal Article] Human glutathione S-transferase A (GSTA) family genes are regulated by steroidogenic factor 1 (SF-1) and are involved in steroidogenesis.2013
- Author(s)
  Matsumura T, Imamichi Y, Mizutani T, Ju Y, Yazawa T, Kawabe S, Kanno M, Ayabe T, Katsumata N, Fukami M, Inatani M, Akagi Y, Umezawa A, Ogata T, Miyamoto K
- Journal Title
  
  FASEB J
  
  Volume: 27 Issue: 8 Pages: 3198-3208
- DOI
  10.1096/fj.12-222745
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390249, KAKENHI-PROJECT-23590329, KAKENHI-PROJECT-23591523, KAKENHI-PROJECT-24390395, KAKENHI-PROJECT-24590347, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25670173, KAKENHI-PROJECT-25670440, KAKENHI-PROJECT-25861481, KAKENHI-PROJECT-25861482
[Journal Article] A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.2013
- Author(s)
  Suzuki-Suwanai A, Ishii T, Haruna H, Yamataka A, Narumi S, Fukuzawa R, Ogata T, Hasegawa T*
- Journal Title
  
  Clin Endocrinol
  
  Volume: 78 Issue: 6 Pages: 957-965
- DOI
  10.1111/cen.12054
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.2013
- Author(s)
  Hayashi M*, Kataoka Y, Sugimura Y, Kato F, Fukami M, Ogata T, Homma K, Hasegawa T, Oiso Y, Sasano H, Tanaka H
- Journal Title
  
  Tohoku J Exp Med
  
  Volume: 231 Pages: 75-84
- NAID
  130004720753
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Compound heterozygous deletions in pseudoautosomal region 1 in an infant with mild manifestsations of Langer mesomelic dysplasia.2013
- Author(s)
  Tsuchiya T, Shibata M, Numabe H, Jinnno T, Nakabayashi K, Nishimura G, Nagai T, Ogata T, Fukami M*
- Journal Title
  
  Am J Med Genet A
  
  Volume: in press Issue: 2 Pages: 505-510
- DOI
  10.1002/ajmg.a.36284
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25670173
[Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.2013
- Author(s)
  Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T*
- Journal Title
  
  PLoS One
  
  Volume: 8
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.2013
- Author(s)
  Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M*
- Journal Title
  
  PLoS One
  
  Volume: 8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] 性分化疾患の検査の進め方2013
- Author(s)
  緒方勤
- Journal Title
  
  小児内科（特集：負荷試験の実際）
  
  Volume: 45 Pages: 815-820
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.2013
- Author(s)
  Fukami M*, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T
- Journal Title
  
  Endocr J
  
  Volume: 60 Pages: 1013-1020
- NAID
  10031195771
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol2013
- Author(s)
  M. Hayashi, Y. Kataoka, Y. Sugimura, F. Kato, M. Fukami, T. Ogata, K. Homma, T. Hasegawa, Y. Oiso, H. Sasano, H. Tanaka
- Journal Title
  
  Tohoku J. Exp. Med.
  
  Volume: 231 Pages: 75-84
- NAID
  130004720753
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development.2013
- Author(s)
  Nakashima S, Watanabe Y, Okada J, Ono H, Nagata E, Fukami M, Ogata T*
- Journal Title
  
  Endocr J
  
  Volume: 60 Pages: 1329-1334
- NAID
  130004770409
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.2013
- Author(s)
  Aoki Y*, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y
- Journal Title
  
  Am J Hum Genet
  
  Volume: 93 Pages: 173-180
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.2013
- Author(s)
  Igarashi M, Dung VC, Suzuki E, Ida S, Nakacho M, Nakabayashi K, Mizuno K, Hayashi Y, Kohri K, Kojima Y, Ogata T, Fukami M*
- Journal Title
  
  PLoS One
  
  Volume: 8
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification2013
- Author(s)
  K. Nagasaki, S. Tsuchuya, A. Saitoh, T. Ogata, M. Fukami
- Journal Title
  
  Endocr. J.
  
  Volume: 60 Pages: 231-236
- NAID
  10031156746
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiency2013
- Author(s)
  Suzuki E, Yatsuga S, Igarashi M, Miyado M, Nakabayashi K, Hayashi K, Hata K, Umezawa A, Yamada G, Ogata T, Fukami M*
- Journal Title
  
  Horm Res Paediatr ,
  
  Volume: 81 Issue: 2 Pages: 139-144
- DOI
  10.1159/000355380
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-24790303, KAKENHI-PROJECT-24791103, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25860891
[Journal Article] The lipid fraction of human milk initiates adipocyte differentiation in 3T3-L1 cells.2013
- Author(s)
  Fujisawa Y*, Yamaguchi R, Nagata E, Satake E, Sano S, Matsushita R, Kitsuta K, Nakashima S, Nakanishi T, Nakagawa Y, Ogata T
- Journal Title
  
  Early Hum Dev
  
  Volume: Epub ahead of print Issue: 9 Pages: 713-719
- DOI
  10.1016/j.earlhumdev.2013.05.002
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23791164, KAKENHI-PROJECT-25253023
[Journal Article] Possible contribution of fetal size and gestational age to myocardial tissue Doppler velocities in preterm fetuses2013
- Author(s)
  K. Sekii, H. Itoh, T. Ogata, S. Iwashima
- Journal Title
  
  Eur. J. Obstet. Gynecol. Reprod. Biol.
  
  Volume: 167 Issue: 1 Pages: 121-121
- DOI
  10.1016/j.ejogrb.2012.09.027
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23659534, KAKENHI-PROJECT-24390273, KAKENHI-PROJECT-25670490
[Journal Article] Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification2013
- Author(s)
  K. Nagasaki, S. Tsuchiya, A. Saitoh, T. Ogata, M. Fukami.
- Journal Title
  
  Endocr J
  
  Volume: 60 Issue: 2 Pages: 231-236
- DOI
  10.1507/endocrj.EJ12-0257
- NAID
  10031156746
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] 性分化疾患の性自認に関する調査研究2013
- Author(s)
  大山建司，深見真紀，緒方勤
- Journal Title
  
  日小児会誌
  
  Volume: 117 Pages: 1403-1409
- NAID
  10031195068
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome2013
- Author(s)
  T. Fuke, S. Mizuno, T. Nagai, T. Hasegawa, R. Horikawa, Y. Miyoshi, K. Muroya, T. Kondoh, C. Numakura, S. Sato, K. Nakabayashi, C. Tayama, K. Hata, S. Sano, K. Matsubara, M. Kagami, K. Yamazawa, T. Ogata
- Journal Title
  
  PLoS. One
  
  Volume: 8 Issue: 3 Pages: e60105-e60105
- DOI
  10.1371/journal.pone.0060105
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-23390083, KAKENHI-PROJECT-24890229, KAKENHI-PROJECT-25860898
[Journal Article] Lack of genomic rearrangements involving the aromatase gene CYP19A1 in breast cancer.2013
- Author(s)
  Fukami M*, Suzuki J, Nakabayashi K, Tsunashima R, Ogata T, Shozu M, Noguchi S
- Journal Title
  
  Breast Cancer
  
  Volume: Epub ahead of print
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol.2013
- Author(s)
  Hayashi M*, Kataoka Y, Sugimura Y, Kato F, Fukami M, Ogata T, Homma K, Hasegawa T, Oiso Y, Sasano H, Tanaka H
- Journal Title
  
  Tohoku J Exp Med
  
  Volume: 231 Pages: 75-84
- NAID
  130004720753
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] 新規男性ホルモン産生経路：正常性分化および性分化疾患発症における役割2013
- Author(s)
  深見真紀，緒方勤
- Journal Title
  
  細胞工学（特集：性決定分化の制御システム）
  
  Volume: 32 Pages: 193-198
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45,X testicular disorder of sex development.2013
- Author(s)
  Nakashima S, Watanabe Y, Okada J, Ono H, Nagata E, Fukami M, Ogata T*
- Journal Title
  
  Endocr J
  
  Volume: 60 Pages: 1329-1334
- NAID
  130004770409
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.2013
- Author(s)
  Fukami M*, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T
- Journal Title
  
  Endocr J
  
  Volume: 60 Pages: 1013-1020
- NAID
  10031195771
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome2013
- Author(s)
  Aoki Y, Niihori T, Banio T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T Nakayama K, Inoue S, Watanabe Y, Oeura T, Matsubara Y
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: Volume 93, Issue 1 Issue: 1 Pages: 173-180
- DOI
  10.1016/j.ajhg.2013.05.021
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-11J08517, KAKENHI-PLANNED-22127006, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23791148, KAKENHI-PUBLICLY-24116503, KAKENHI-PUBLICLY-24116701, KAKENHI-PROJECT-24370085, KAKENHI-PROJECT-24657127, KAKENHI-PROJECT-24700951, KAKENHI-PROJECT-24790189
[Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.2013
- Author(s)
  Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T*
- Journal Title
  
  PLoS One
  
  Volume: 8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency2013
- Author(s)
  R. Yamaguchi, F. Kato, T. Hasegawa, N. Katsumata, M. Fukami, T. Matsui, K. Nagasaki, T. Ogata
- Journal Title
  
  Endocr. J.
  
  Volume: 60 Pages: 855-859
- NAID
  10031195753
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification2013
- Author(s)
  Nagasaki K*, Tsuchuya S, Saitoh A, Ogata T, Fukami M
- Journal Title
  
  Endocr J,VOL
  
  Volume: 60 Pages: 231-236
- NAID
  10031156746
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] A novel de novo point mutation of OCT-binding site in the IGF2/H19-imprinting control region in a patient with Beckwith-Wiedemann syndrome.2013
- Author(s)
  Higashimoto K, Jozaki K, Kosho T, Matsubara K, Sato T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, SoejimaH*
- Journal Title
  
  Clin Genet
  
  Volume: in press Issue: 6 Pages: 539-544
- DOI
  10.1111/cge.12318
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23249015, KAKENHI-PROJECT-23659181, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25461554, KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-25860898, KAKENHI-PROJECT-26670169
[Journal Article] Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.2013
- Author(s)
  Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H*
- Journal Title
  
  Genet Med
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.2013
- Author(s)
  Aoki Y*, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y
- Journal Title
  
  Am J Hum Genet
  
  Volume: 93 Pages: 173-180
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency2013
- Author(s)
  R. Yamaguchi, F. Kato, T. Hasegawa, N. Katsumata, M. Fukami, T. Matsui, K. Nagasaki, T. Ogata.
- Journal Title
  
  Endocr J
  
  Volume: 60 Issue: 7 Pages: 855-859
- DOI
  10.1507/endocrj.EJ13-0024
- NAID
  10031195753
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23591523
[Journal Article] Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development.2013
- Author(s)
  Fukami M, Homma K, Hasegawa T, Ogata T*
- Journal Title
  
  Dev Dyn ,
  
  Volume: 4 Issue: 4 Pages: 320-329
- DOI
  10.1002/dvdy.23892
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.2013
- Author(s)
  Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T
- Journal Title
  
  Endocr J
  
  Volume: 60 Pages: 855-859
- NAID
  10031195753
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression.2013
- Author(s)
  Fukami M*, Tsuchiya T, Vollbach H, Brown KA, Abe S, Ohtsu S, Wabitsch M, Gurger H, Sompson ER, Emezawa A, Nakabayashi K, Bulun SE, Shozu M, Ogata T
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 98 Issue: 12 Pages: E2013-E2021
- DOI
  10.1210/jc.2013-2520
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390249, KAKENHI-PROJECT-23659772, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25253092, KAKENHI-PROJECT-25670173
[Journal Article] Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion.2013
- Author(s)
  Ayabe T, Matsubara K, Ogata T, Ayabe A, Murakami N, Nagai T, Fukami M*
- Journal Title
  
  Am J Med Genet A
  
  Volume: accepted
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] 性分化疾患の性自認に関する調査研究2013
- Author(s)
  大山建司，深見真紀，緒方勤
- Journal Title
  
  日小児会誌
  
  Volume: 117 Pages: 1403-1409
- NAID
  10031195068
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Long term follow up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.2013
- Author(s)
  Nagasaki K*, Asami T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M
- Journal Title
  
  Am J Med Genet A,
  
  Volume: 164 Issue: 3 Pages: 731-735
- DOI
  10.1002/ajmg.a.36314
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] 性分化疾患の検査の進め方2013
- Author(s)
  緒方勤
- Journal Title
  
  小児内科（特集：負荷試験の実際）
  
  Volume: 45 Pages: 815-820
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia.2013
- Author(s)
  Fukami M*, Miyado M, Nagasaki K, Shozu M, Ogata T
- Journal Title
  
  Pediatr Endocr Rev
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development2013
- Author(s)
  M. Igarashi, V. C. Dung, E. Suzuki, S. Ida, M. Nakacho, K. Nakabayashi, K. Mizuno, Y. Hayashi, K. Kohri, Y. Kojima, T. Ogata, M. Fukami
- Journal Title
  
  PLoS. One
  
  Volume: 8 Issue: 7 Pages: e68194-e68194
- DOI
  10.1371/journal.pone.0068194
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390249, KAKENHI-PROJECT-24390372, KAKENHI-PROJECT-25462541, KAKENHI-PROJECT-25670173, KAKENHI-PROJECT-25670686
[Journal Article] Glucose-6-phosphate dehydrogenase deficiency and adrenal hemorrhage in a Filipino neonate with hyperbilirubinemia.2013
- Author(s)
  Ohishi A*, Ueno D, Ogata T
- Journal Title
  
  AJP Rep
  
  Volume: 3 Issue: 01 Pages: 5-8
- DOI
  10.1055/s-0032-1329125
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] MLL2 and KDM6A mutations in patients with Kabuki syndrome.2013
- Author(s)
  Miyake N*, Koshimizu E, Okamoto N, Mizuno S, Ogata T,at all
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161 Issue: 9 Pages: 2234-2243
- DOI
  10.1002/ajmg.a.36072
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23590383, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24591531, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25293235, KAKENHI-PROJECT-25860915
[Journal Article] Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.2013
- Author(s)
  Maeda T, Higashimoto K, Jozaki K, Yatsuki H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H*
- Journal Title
  
  Genet Med
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Aromatase excess syndrome: a rare autosomal dominant disorder leading to pre- or peri-pubertal onset gynecomastia.2013
- Author(s)
  Fukami M*, Miyado M, Nagasaki K, Shozu M, Ogata T
- Journal Title
  
  Pediatr Endocr Rev
  
  Volume: 11 Pages: 298-305
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Identification of AP2S1 Mutation and Effects of Low Calcium Formula in an Infant with Hypercalcemia and Hypercalciuria.2013
- Author(s)
  Fujisawa Y*, Yamaguchi R, Satake E, Ohtaka K, Nakanishi T, Ozono K, Ogata T
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 98 Issue: 12 Pages: E2022-E2027
- DOI
  10.1210/jc.2013-2571
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023
[Journal Article] Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.2013
- Author(s)
  Nagasaki K*, Tsuchuya S, Saitoh A, Ogata T, Fukami M
- Journal Title
  
  Endocr J
  
  Volume: 60 Pages: 231-236
- NAID
  10031156746
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Mutation and deletion of fibroblast growth factor receptor 1 gene in two patients with combined pituitary hormone deficiency.2013
- Author(s)
  M. Fukami, M. Iso, N. Sato, M. Igarashi, M. Seo, I. Kazukawa, E. Kinoshita, S. Dateki, T. Ogata.
- Journal Title
  
  Endocr. J.
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion.2013
- Author(s)
  T. Ayabe, K. Matsubara, T. Ogata, A. Ayabe, N. Murakami, T. Nagai, M. Fukami.
- Journal Title
  
  Am. J. Med. Genet. A
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development.2013
- Author(s)
  M. Miyado, M. Nakamura, K. Miyado, K. Morohashi, S. Sano, E. Nagata, M. Fukami, T. Ogata.
- Journal Title
  
  Endocrinology
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.2013
- Author(s)
  Matsubara K, Ogata T*
- Journal Title
  
  J Hum Genet
  
  Volume: 58 Issue: 3 Pages: 118-119
- DOI
  10.1038/jhg.2013.4
- NAID
  10031164067
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25860898
[Journal Article] Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.2013
- Author(s)
  Nagasaki K*, Tsuchuya S, Saitoh A, Ogata T, Fukami M
- Journal Title
  
  Endocr J
  
  Volume: accepted
- NAID
  10031156746
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion.2013
- Author(s)
  Ayabe T, Matsubara K, Ogata T, Ayabe A, Murakami N, Nagai T, Fukami M*
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161 Issue: 6 Pages: 1495-1497
- DOI
  10.1002/ajmg.a.35893
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390249, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25860898
[Journal Article] A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.2013
- Author(s)
  Yamaguchi R, Kato F, Hasegawa T, Katsumata N, Fukami M, Matsui T, Nagasaki K, Ogata T
- Journal Title
  
  Endocr J
  
  Volume: 60 Pages: 855-859
- NAID
  10031195753
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] 新規男性ホルモン産生経路：正常性分化および性分化疾患発症における役割2013
- Author(s)
  深見真紀，緒方勤
- Journal Title
  
  細胞工学（特集：性決定分化の制御システム）
  
  Volume: 32 Pages: 193-198
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency2013
- Author(s)
  M. Fukami, M. Iso, N. Sato, M. Igarashi, M. Seo, I. Kazukawa, E. Kinoshita, S. Dateki, T. Ogata
- Journal Title
  
  Endocr. J.
  
  Volume: 60 Pages: 1013-1020
- NAID
  10031195771
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Critical role of Yp inversion in PRKX/PRKY-mediated Xp;Yp translocation in a patient with 45, X testicular disorder of sex development2013
- Author(s)
  S. Nakashima, Y. Watanabe, J. Okada, H. Ono, E. Nagata, M. Fukami, T. Ogata
- Journal Title
  
  Endocr. J.
  
  Volume: 60 Pages: 1329-1334
- NAID
  130004770409
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] 原発性性線機能低下症．大関武彦，古川漸，横田俊一郎，水口雅2012
- Author(s)
  緒方勤
- Journal Title
  
  今日の小児治療指針
  
  Volume: 15版 Pages: 244-245
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Review : Molecular bases and phenotypic determinants of aromatase excess syndrome2012
- Author(s)
  M.Fukami, M.Shozu, T.Ogata, et al
- Journal Title
  
  Int.J.Endocrinol.
  
  Volume: (印刷中)(in～press) Pages: 584807-584807
- DOI
  10.1155/2012/584807
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PLANNED-22132004
[Journal Article] Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.2012
- Author(s)
  H. Hiura, H. Okae, N. Miyauchi, F. Sato, A. Sato, M. Van De Pette, R.M. John, M. Kagami, K. Nakai, H. Soejima, T. Ogata, T. Arima.
- Journal Title
  
  Hum. Reprod.
  
  Volume: 27 Pages: 2541-2548
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Screening of MAMLD1 mutations in 70 children with 46, XY DSD : Identification and functional analysis of 2 new mutations2012
- Author(s)
  Kalfa N, Ogata T, et al
- Journal Title
  
  PLoS ONE
  
  Volume: 7(3)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations2012
- Author(s)
  Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyado M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T*
- Journal Title
  
  Epigenetics 7
  
  Volume: 10 Pages: 1142-1150
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Identification of novel low-dose bisphenol A targets in human foreskin fibroblast cells derived from hypospadias patients.2012
- Author(s)
  X.Y. Qin, M. Miyado, Y. Kojima, H. Zaha, H. Akanuma, Q. Zeng, J. Yoshinaga, J. Yonemoto, M. Fukami, T. Ogata, H. Sone.
- Journal Title
  
  PLoS One
  
  Volume: 7 Issue: 5 Pages: e36711-e36711
- DOI
  10.1371/journal.pone.0036711
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-24790303
[Journal Article] Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan2012
- Author(s)
  Abe Y, Aoki Y, Ogata T, et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: (accepted)(Epub ahead of print) Issue: 5 Pages: 1083-1094
- DOI
  10.1002/ajmg.a.35292
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23651022, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148
[Journal Article] PRKAR1A mutation affecting cAMP-mediated G-protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.2012
- Author(s)
  Nagasaki K, Iida T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T*, Fukami M
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 97 (9)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Review: MAMLD1 and 46,XY disorders of sex development.2012
- Author(s)
  T. Ogata, S. Sano, E. Nagata, F. Kato, M. Fukami.
- Journal Title
  
  Semi. Reprod. Med.
  
  Volume: 30 Issue: 05 Pages: 410-416
- DOI
  10.1055/s-0032-1324725
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PLANNED-22132004
[Journal Article] Mosaic upd(7)mat in a patient with Silver-Russell syndrome: correlation between phenotype and mosaic ratio in the body and the placenta.2012
- Author(s)
  Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T*
- Journal Title
  
  Am J Med Genet A
  
  Volume: 158A (2) Pages: 465-468
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and coytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement2012
- Author(s)
  Y.Koyama, K.Homma, M.Fukami, M.Miwa, K.Ikeda, T.Ogata, et al
- Journal Title
  
  Clin.Chem.
  
  Volume: 58 Issue: 4 Pages: 741-747
- DOI
  10.1373/clinchem.2011.173286
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PLANNED-22132004
[Journal Article] Screening of MAMLD1 mutations in 70 children with 46,XY DSD : Identification and functional analysis of 2 new mutations2012
- Author(s)
  Kalfa N, Ogata T, et al
- Journal Title
  
  PLoS ONE
  
  Volume: 7(3)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype2012
- Author(s)
  Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T*
- Journal Title
  
  Eur J Hum Genet20
  
  Volume: 9 Pages: 928-932
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Fetal myocardial tissue Doppler indices before birth physiologically change in proportion to body size adjusted for gestational age in low-risk term pregnancies2012
- Author(s)
  Sekii K, Takamichi Ishikawa T, Ogata T, Itoh H, Iwashima S.
- Journal Title
  
  Early Human Development
  
  Volume: (In Press) Issue: 7 Pages: 517-523
- DOI
  10.1016/j.earlhumdev.2011.12.014
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390322, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23659534, KAKENHI-PROJECT-24390273
[Journal Article] 性分化疾患2012
- Author(s)
  緒方勤
- Journal Title
  
  小児科（小児疾患の診断治療基準）
  
  Volume: 44 (増刊号) Pages: 218-219
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Mosaic upd(7)mat in a patient with Silver-Russell syndrome : correlation between phenotype and mosaic ratio in the body and the placenta2012
- Author(s)
  Fuke-Sato T, Ogata T, et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: 158A(2) Pages: 465-8
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies2012
- Author(s)
  Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T,Arima T*
- Journal Title
  
  Hum Reprod 27
  
  Volume: 8 Pages: 2541-2548
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Mosaic upd(7)mat in a patient with Silver-Russell syndrome : correlation between phenotype and mosaic ratio in the body and the placenta2012
- Author(s)
  Fuke-Sato T, Ogata T, et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: 158A(2) Pages: 465-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.2012
- Author(s)
  M. Kagam, K. Matsuoka, T. Nagai, M. Yamanaka, K. Kurosawa, N. Suzumori, Y. Sekita, M. Miyado, K. Matsubara, T. Fuke, F. Kato, M. Fukami, T. Ogata.
- Journal Title
  
  Epigenetics
  
  Volume: 7 Issue: 10 Pages: 1142-1150
- DOI
  10.4161/epi.21937
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-22591831, KAKENHI-PROJECT-23390083, KAKENHI-PROJECT-24790303
[Journal Article] 子どもの健康と環境ホルモン：男児外陰部異常をモデルとして2012
- Author(s)
  緒方勤
- Journal Title
  
  小児科臨床
  
  Volume: 65 （増刊号：小児の中毒） Pages: 1565-1572
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Deterioration of myocardial tissue Doppler indices in a case of fetal hydrothorax as a promising indication for clinical intervention before the development of nonimmune hydrops fetalis.2012
- Author(s)
  K. Sekii, H. Itoh, T. Ogata, S. Iwashima.
- Journal Title
  
  Arch. Gynecol. Obstet.
  
  Volume: 286 Issue: 4 Pages: 1079-1080
- DOI
  10.1007/s00404-012-2375-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23659534, KAKENHI-PROJECT-24390273
[Journal Article] Mosaic upd(7)mat in a patient with Silver-Russell syndrome: correlation between phenotype and mosaic ratio in the body and the placenta.2012
- Author(s)
  T. Fuke-Sato, K. Yamazawa, K. Nakabayashi, K. Matsubara, K. Matsuoka, T. Hasegawa, K. Dobashi, T. Ogata.
- Journal Title
  
  Am. J. Med. Genet. A.
  
  Volume: 158A Issue: 2 Pages: 465-468
- DOI
  10.1002/ajmg.a.34404
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22791022
[Journal Article] Individual variation of the genetic response to low-dose bisphenol A in human foreskin fibroblast cells derived from cryptorchidism and hypospadias patients.2012
- Author(s)
  X.Y. Qin, H. Sone, Y. Kojima, K. Ueoka, K. Muroya, M. Miyado, H. Zaha, T. Fukuda, J. Yoshinaga, J. Yonemoto, M. Fukami, T. Ogata.
- Journal Title
  
  PLoS One
  
  Volume: 7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] PRKAR1A mutation affecting cAMP-mediated G-protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.2012
- Author(s)
  K. Nagasaki, T. Iida, H. Sato, Y. Ogawa, T. Kikuchi, A. Saitoh, T. Ogata, M. Fukami.
- Journal Title
  
  J. Clin. Endocrinol. Metab.
  
  Volume: 97
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families2012
- Author(s)
  Sugihara S, Ogata T, Kawamura T,
- Journal Title
  
  Pediatr Diabetes
  
  Volume: 13(1) Pages: 33-44
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22591140
[Journal Article] HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families2012
- Author(s)
  Sugihara S
- Journal Title
  
  Pediatric Diabetes
  
  Volume: 13 Issue: 1 Pages: 33-44
- DOI
  10.1111/j.1399-5448.2011.00833.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591324, KAKENHI-PROJECT-21591325, KAKENHI-PLANNED-22133008, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22591128, KAKENHI-PROJECT-22591140, KAKENHI-PROJECT-24591515
[Journal Article] ARTにおけるインプリンティング異常2012
- Author(s)
  緒方勤
- Journal Title
  
  Medical Science Digest
  
  Volume: 38 (6) Pages: 249-252
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development.2012
- Author(s)
  Miyado M, Nakamura M, Miyado K, Morohashi K, Sano S, Nagata E, Fukami M, , Ogata T*
- Journal Title
  
  Endocrinology
  
  Volume: accepted
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Mutation and deletion of fibroblast growth factor receptor 1 gene in two patients with combined pituitary hormone deficiency.2012
- Author(s)
  Fukami M*, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T
- Journal Title
  
  Endocr J
  
  Volume: accepted
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Individual variation of the genetic response to low-dose bisphenol A in human foreskin fibroblast cells derived from cryptorchidism and hypospadias patients.2012
- Author(s)
  Qin XY, Sone H*, Kojima Y, Ueoka K, Muroya K, Miyado M, Zaha H, Fukuda T, Yoshinaga J, Yonemoto J, Fukami M, Ogata T
- Journal Title
  
  PLoS One
  
  Volume: 7 (12)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader-Willi syndrome.2012
- Author(s)
  Y. Oto, K. Obata, K. Matsubara, Y. Kozu, T. Tsuchiya, S. Sakazume, A. Yoshino, N. Murakami, T. Ogata, T. Nagai.
- Journal Title
  
  Am. J. Med. Genet. A.
  
  Volume: 158A Pages: 1477-1480
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familialinfantile convulsions.2012
- Author(s)
  Ono S, Yoshiura K , KinoshitaA, Kikuchi T, Nakane Y, Kato N,Sadamatsu M , Konishi T , Nagamitsu S , Matsuura M, Yasuda A, KomineM, Kanai K , Inoue T , Osamura T , Saito K , Hirose S, Koide H, Tomita H , Ozawa H , Niikawa N and Kurotaki N.
- Journal Title
  
  J Hum Genet
  
  Volume: 57 Issue: 5 Pages: 1-4
- DOI
  10.1038/jhg.2012.23
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21249062, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22390066, KAKENHI-PROJECT-23659529, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24659535, KAKENHI-PROJECT-22591263, KAKENHI-PLANNED-22132004, KAKENHI-PLANNED-24116007
[Journal Article] Identification of novel low-dose bisphenol A targets in human foreskin fibroblast cells derived from hypospadias patients.2012
- Author(s)
  Qin X-Y, Miyado M, Kojima Y, Zaha H Akanuma H, Zeng Q, Yoshinaga J, Yonemoto J, Fukami M, Ogata T, Sone H*
- Journal Title
  
  PLoS ONE
  
  Volume: 7 (5)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Complex genomic rearrangements in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula.2012
- Author(s)
  M. Fukami, T. Tsuchiya, S. Takada, A. Kanbara, H. Asahara, A. Igarashi, Y. Kamiyama, G. Nishimura, T. Ogata.
- Journal Title
  
  Am. J. Med. Genet. A.
  
  Volume: 158A Issue: 7 Pages: 1529-1534
- DOI
  10.1002/ajmg.a.35308
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390249, KAKENHI-PLANNED-22132004
[Journal Article] Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.2012
- Author(s)
  Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T, Arima T*
- Journal Title
  
  Hum Reprod
  
  Volume: 27 (8) Pages: 2541-2548
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Genetic characteristics on HLA-cass IT and class I among Japanese type 1A and type 1B diabetic children and their families2012
- Author(s)
  Sugihara S, Ogata T, et al
- Journal Title
  
  Pediatr Diabetes
  
  Volume: 13(1) Pages: 33-44
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Screening of MAMLD1 mutations in 70 Children with 46,XY DSD: Identification and functional analysis of two new mutations.2012
- Author(s)
  N. Kalfa, M. Fukami, P. Philibert, F. Audran, C. Pienkowski, G. Weill, C. Pinto, S. Manouvrier, M. Polak, T. Ogata, C. Sultan.
- Journal Title
  
  PLoS One
  
  Volume: 7 Issue: 3 Pages: e32505-e32505
- DOI
  10.1371/journal.pone.0032505
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PLANNED-22132004
[Journal Article] 心血管病変発症の性差とY染色体2012
- Author(s)
  緒方勤
- Journal Title
  
  MMJ
  
  Volume: 8 (4) Pages: 190-191
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Two-step biochemical differential diagnosis of classical 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants using uUrinary Pregnanetriolone/Tetrahydroxycortisone Ratio and 11β-hydroxyandrosterone by Gas chromatography-mass spectrometry2012
- Author(s)
  Koyama Y, Ogata T, et al
- Journal Title
  
  Clin Chem
  
  Volume: 58(4) Pages: 741-7
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency2012
- Author(s)
  H.Inoue, T.Mukai, Y.Sakamoto, C.Kimura, T.Ogata, et al
- Journal Title
  
  Clin.Endocrinol.
  
  Volume: 76 Issue: 1 Pages: 78-87
- DOI
  10.1111/j.1365-2265.2011.04165.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22590997, KAKENHI-PROJECT-23591499
[Journal Article] 46, XY gonadal dysgenesis : new SRY point mutation in two siblings with paternal germ line mosaicism2012
- Author(s)
  Stoppa-Vaucher S, Ogata T, et al
- Journal Title
  
  Clin Genet
  
  Volume: (in press)(Epub ahead of print) Issue: 6 Pages: 505-513
- DOI
  10.1111/j.1399-0004.2011.01832.x
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002
[Journal Article] Mosaic upd(7)mat in a patient with Silver-Russell syndrome: correlation between phenotype and mosaic ratio in the body and the placenta2012
- Author(s)
  Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T*
- Journal Title
  
  Am J Med Genet A158A
  
  Volume: 2 Pages: 465-468
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency2012
- Author(s)
  Inoue H, Ogata T, et al
- Journal Title
  
  Clin Endocrinol
  
  Volume: 76(1) Pages: 78-87
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias.2012
- Author(s)
  X.Y. Qin, Y. Kojima, K. Mizuno, K. Ueoka, F. Massart, C. Spinelli, H. Zaha, M. Okura, J. Yoshinaga, J. Yonemoto, K. Kohri, Y. Hayashi, T. Ogata, H. Sone.
- Journal Title
  
  J. Hum. Genet.
  
  Volume: 57 Issue: 7 Pages: 434-441
- DOI
  10.1038/jhg.2012.48
- NAID
  10030965639
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22689044, KAKENHI-PLANNED-22132004
[Journal Article] Genetic characteristics on HLA-cass II and class I among Japanese type 1A and type 1B diabetic children and their families2012
- Author(s)
  Sugihara S, Ogata T, et al
- Journal Title
  
  Pediatr Diabetes
  
  Volume: 13(1) Pages: 33-44
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype2012
- Author(s)
  Kagami M, Ogata T, et al
- Journal Title
  
  Eur J Hum Genet
  
  Volume: (accepted)(Epub ahead of print) Issue: 9 Pages: 928-932
- DOI
  10.1038/ejhg.2012.26
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-23390083, KAKENHI-ORGANIZER-22132001
[Journal Article] Two-step biochemical differential diagnosis of classical 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants using uUrinary Pregnanetriolone/Tetrahydroxycortisone Ratio and 11β-hydroxyandrosterone by Gas chromatography-mass spectrometry2012
- Author(s)
  Koyama Y, Ogata T, et al
- Journal Title
  
  Clin Chem
  
  Volume: 58(4) Pages: 741-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency2012
- Author(s)
  Inoue H, Ogata T, et al
- Journal Title
  
  Clin Endocrinol
  
  Volume: 76(1) Pages: 78-87
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] 性分化疾患2012
- Author(s)
  緒方勤
- Journal Title
  
  臨床と研究（特集：小児診療のピットフォールII）
  
  Volume: 89 (5) Pages: 53-58
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Proximal promoter of the cytochrome P450 oxidoreductase gene : identification of microdeletions involving the untranslaled exon 1 and critical function of the SP1 binding site2011
- Author(s)
  S.Soneda, T.Yazawa, M.Fukami, M.Adachi, T.Ogata, et al
- Journal Title
  
  J.Clin.Endocrinol.Metab.
  
  Volume: 96 Issue: 11 Pages: 1881-1887
- DOI
  10.1210/jc.2011-1337
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23590329
[Journal Article] Analysis of expression and structure of the rat GH secretagogue/ghrelin receptor (Ghsr) gene : roles of epigenetic modifications in transcriptional regulation2011
- Author(s)
  Inoue H, Ogata T, et al
- Journal Title
  
  Mol Cell Endocrinol
  
  Volume: 345 Pages: 1-15
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Maternal age effect on the development of Prader-Willi syndrome resulting from upd (15) mat through meiosis 1 errors2011
- Author(s)
  K.Matsubara, N.Murakami, T.Nagai, T Ogata, et al
- Journal Title
  
  J.Hum.Genet.
  
  Volume: 56 Issue: 8 Pages: 566-571
- DOI
  10.1038/jhg.2011.59
- NAID
  10030660380
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22791022
[Journal Article] Analysis of expression and structure of the rat GH secretagogue/ghrelin receptor (Ghsr) gene : roles of epigenetic modifications in transcriptional regulation2011
- Author(s)
  H.Inoue, Y.Sakamoto, N.Kangawa, C.Kimura, T.Ogata, et al
- Journal Title
  
  Mol.Cell.Endocrinol.
  
  Volume: 345 Issue: 1-2 Pages: 1-15
- DOI
  10.1016/j.mce.2011.06.034
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23591499
[Journal Article] Identification and functional analysis of novel human growth hormone-releasing honnone receptor (GHRHR) gene mutations in Japanese subjects with short stature2011
- Author(s)
  Inoue H, Ogata T, et al
- Journal Title
  
  Clin Endocrinol
  
  Volume: 74(2) Pages: 223-233
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 142011
- Author(s)
  Miyazaki O, Ogata T, et al
- Journal Title
  
  Ped Radiol
  
  Volume: 41(8) Pages: 1013-1019
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Identification of chromosome 15q terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis.2011
- Author(s)
  S.Dateki, M.Fukami, Y.Tanaka, G.Sasaki H.Moriuchi, T.Ogata
- Journal Title
  
  Endocr.J.
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes2011
- Author(s)
  Yamazawa K, Nakabayashi K, Matsuoka K, Matsubara K, Hata K, Horikawa R, Ogata T*
- Journal Title
  
  J Hum Genet56
  
  Volume: 1 Pages: 91-93
- NAID
  10030657597
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Advanced maternal age and the development of Prader-Willi syndrome resulting from upd(15)mat through non-disjunction at meiosis 12011
- Author(s)
  Ogata T, Matsubara K, et al
- Journal Title
  
  J Mamm Ova Res
  
  Volume: 28(3) Pages: 96-102
- NAID
  10029898301
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female2011
- Author(s)
  Brandao MP, Ogata T, et al
- Journal Title
  
  Adv Exp Med Biol
  
  Volume: 707(10) Pages: 129-31
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature2011
- Author(s)
  Inoue H, Ogata T, et al
- Journal Title
  
  Clin Endocrinol
  
  Volume: 74(2) Pages: 223-233
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Maternal age effect on the developmentof Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors2011
- Author(s)
  Matsubara K, Murakami N, Nagai T, Ogata T*
- Journal Title
  
  J Hum Genet 56
  
  Volume: 8 Pages: 566-71
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd (14) pat-like phenotypes2011
- Author(s)
  Yamazawa K, Ogata T, et al
- Journal Title
  
  J Hum Genet
  
  Volume: 56(1) Pages: 91-93
- NAID
  10030657597
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Analysis of expression and structure of the rat GH secretagogue/ghrelin receptor (Ghsr) gene : roles of epigenetic modifications in transcriptional regulation2011
- Author(s)
  Inoue H, Ogata T, et al
- Journal Title
  
  Mol Cell Endocrinol
  
  Volume: 345 Pages: 1-15
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 14.2011
- Author(s)
  O.Miyazaki, G.Nishimura, M.Kagami, T.Ogata
- Journal Title
  
  Ped.Radiol.
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Methylation screening of reciprocal genome-wide UPDs identifies novel human specific imprinted genes2011
- Author(s)
  Nakabayashi K, Ogata T, et al
- Journal Title
  
  Hum Mol Genet
  
  Volume: 20(16) Pages: 3188-97
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Aromatase excess syndrome : identification of cryptic duplications and deletions leading to gain-of-function of CYP19A1 and assessment of phenotypic determinants2011
- Author(s)
  Fukami, M, Ogata T, et al
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 96(6)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Methylation screening of reciprocal genome-wide UPDs identifies novel human specific imprinted genes2011
- Author(s)
  Nakabayashi K, Ogata T, et al
- Journal Title
  
  Hum Mol Genet
  
  Volume: 20(16) Pages: 3188-97
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Proximal promoter of the cytochrome P450 oxidoreductase gene : identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding site2011
- Author(s)
  Soneda S, Ogata T, et al
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 96(11)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Polymorphisms of MAMLD1 gene in hypospadias2011
- Author(s)
  Kalfa N, Ogata T, et al
- Journal Title
  
  J Pediatr Urol
  
  Volume: 7(6) Pages: 585-591
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 142011
- Author(s)
  Miyazaki O*, Nishimura G, Kagami M, Ogata T
- Journal Title
  
  Ped Radiol41
  
  Volume: 8 Pages: 1013-1019
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Aromatase Excess Syndrome : Identification of Cryptic Duplications and Deletions Leading to Gain-of-Function of CYP19A1 and Assessment of. Phenotypic Determinants.2011
- Author(s)
  Fukami M, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature2011
- Author(s)
  Inoue H, Ogata T, et al
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 96(2)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] GATA3 abnormalities in six patients with HDR syndrome2011
- Author(s)
  Fukami M, Ogata T, et al
- Journal Title
  
  Endocr J
  
  Volume: 58(2) Pages: 117-121
- NAID
  10029587700
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency2011
- Author(s)
  R.Ishizuka, N.Okamoto, N.Hamada, Y.Sugishita, T.Ogata, et al
- Journal Title
  
  Fertil.Steril.
  
  Volume: 96 Issue: 5 Pages: 1170-1174
- DOI
  10.1016/j.fertnstert.2011.08.028
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Aromatase excess syndrome : identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants2011
- Author(s)
  Fukami M, Hanaki K, Kanzaki S, .(他12名、8番目)
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism
  
  Volume: 96(6) Issue: 6 Pages: 1035-43
- DOI
  10.1210/jc.2011-0145
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591324, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22591128
[Journal Article] Advanced maternal age and the development of Prader-Willi syndrome resulting from upd (15) mat through non-disjunction at meiosis 12011
- Author(s)
  Ogata T, Matsubara K, et al
- Journal Title
  
  J Mamm Ova Res
  
  Volume: 28(3) Pages: 96-102
- NAID
  10029898301
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Mamldl knockdown reduces testosterone production and Cyp17al expression in mouse Leydig tumor cells2011
- Author(s)
  Nakamura M, Ogata T, et al
- Journal Title
  
  PLoS ONE
  
  Volume: 6(4)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature2011
- Author(s)
  H.Inoue, N.Kangawa, A.Kinouchi, Y.Sakamoto, T.Ogata, et al
- Journal Title
  
  J.Clin.Endocrinol.Metab.
  
  Volume: 96 Issue: 2 Pages: 373-378
- DOI
  10.1210/jc.2010-1570
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22590997, KAKENHI-PROJECT-23591499
[Journal Article] Maternal age effect on the development of Prader-Willi syndrome resulting from upd (15) mat through meiosis 1 errors2011
- Author(s)
  Matsubara K, Ogata T, et al
- Journal Title
  
  J Hum Genet
  
  Volume: 56(8) Pages: 566-71
- NAID
  10030660380
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Steroid 5α-reductase-2 deficiency and fertility2011
- Author(s)
  Ogata T, Matsubara K
- Journal Title
  
  Fertil Steril
  
  Volume: 95(7)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14.2011
- Author(s)
  Miyazaki O, Nishimura G, Kagami M, Ogata T.
- Journal Title
  
  Pediatric Radiology. Epub ahead of print
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46, XX disorder of sex development in a virilized female2011
- Author(s)
  MP.Brandao, EM.Costa, M.Fukami, M.Gerdulo, T.Ogata, et al
- Journal Title
  
  Adv.Exp.Med.Biol.
  
  Volume: 707 Pages: 129-131
- DOI
  10.1007/978-1-4419-8002-1_28
- ISBN
  9781441980014, 9781441980021
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Steroid 5alpha-reductase-2 deficiency and fertility.2011
- Author(s)
  T.Ogata, K.Matsubara
- Journal Title
  
  Fertil.Steril.
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] GATA3 abnormalities in six patients with HDR syndrome2011
- Author(s)
  Fukami M, Ogata T, et al
- Journal Title
  
  Endocr J
  
  Volume: 58(2) Pages: 117-121
- NAID
  10029587700
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors2011
- Author(s)
  Matsubara K, Ogata T, et al
- Journal Title
  
  J Hum Genet
  
  Volume: 56(8) Pages: 566-71
- NAID
  10030660380
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Association of primary ovarian insufficiency with a specific HLA haplotype (A*24:02-C*03:03-B*35:01) in Japanese patients2011
- Author(s)
  T.Ayabe, B.Ishizuka, T.Maruyama, H.Uchida, T.Ogata, et al
- Journal Title
  
  Sex.Dev.
  
  Volume: 5 Issue: 5 Pages: 235-240
- DOI
  10.1159/000330122
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23659783
[Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 142011
- Author(s)
  Miyazaki O, Ogata T, et al
- Journal Title
  
  Ped Radiol
  
  Volume: 41(8) Pages: 1013-1019
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Mamld1 knockdown reduces testosterone production and Cyp17al expression in mouse Leydig tumor cells.2011
- Author(s)
  Nakamura M, Fukami M, Sugawa F, Miyado M, Nonomura K, Ogata T
- Journal Title
  
  PLoS ONE
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature2011
- Author(s)
  H.Inoue, N.Kangawa, A.Kinouchi, Y.Sakamoto, T.Ogata, et al
- Journal Title
  
  Clin.Endocrinol.
  
  Volume: 74 Issue: 2 Pages: 223-233
- DOI
  10.1111/j.1365-2265.2010.03911.x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23591499
[Journal Article] Polymorphisms of MAMLD1 gene in hypospadias2011
- Author(s)
  N.Kalfa, F.Cassorla, F.Audran, OI.Abdennabi, T.Ogata, et al
- Journal Title
  
  J.Pediatr.Urol.
  
  Volume: 7 Issue: 6 Pages: 585-591
- DOI
  10.1016/j.jpurol.2011.09.005
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Association of primary ovarian insufficiency with a specific HLA haplotype (A^*24:02-C^*03:03-B^*35:01) in Japanese patients2011
- Author(s)
  Ayabe T, Ogata T, et al
- Journal Title
  
  Sex Dev
  
  Volume: 5(5) Pages: 235-240
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Identification of chromosome 15q terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis2011
- Author(s)
  Dateki S, Ogata T, et al
- Journal Title
  
  Endocr J
  
  Volume: 58(3) Pages: 155-159
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Polymorphisms of MAMLD1 gene in hypospadias2011
- Author(s)
  Kalfa N, Ogata T, et al
- Journal Title
  
  J Pediatr Urol
  
  Volume: 7(6) Pages: 585-591
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd (14) pat-like phenotypes2011
- Author(s)
  Yamazawa K, Ogata T, et al
- Journal Title
  
  J Hum Genet
  
  Volume: 56(1) Pages: 91-93
- NAID
  10030657597
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovanan insufficiency2011
- Author(s)
  Ishizuka B, Ogata T, et al
- Journal Title
  
  Fertil Steril
  
  Volume: 96(5) Pages: 1170-1174
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Aromatase excess syndrome : identification of cryptic duplications and deletions leading to gain-of-function of CYP19A1 and assessment of phenotypic determinants2011
- Author(s)
  Fukami, M, Ogata T, et al
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 96(6)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Advanced Maternal Age and the Development of Prader-Willi Syndrome Resulting from Upd(15)mat through Non-disjunction at Meiosis 12011
- Author(s)
  T.Ogata, K.Matsubara, E.Nagata, S.Sano, T.Nagai, et al
- Journal Title
  
  Journal of Mammalian Ova Research
  
  Volume: 28 Issue: 3 Pages: 96-102
- DOI
  10.1274/jmor.28.96
- NAID
  10029898301
- ISSN
  1341-7738, 1347-5878
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Exonic polymorphisms of MAMLD1 (CXorf6) are associated with hypospadias.2011
- Author(s)
  Kalfa N, Cassorla F, Abdennabi IO, Audran F, Philibert P, Daures JP, Baskin L, Fukami M, Ogata T, Sultan C
- Journal Title
  
  J Urol
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Methylation screening of reciprocal genome-wide UPDs identifies novel human specific imprinted genes2011
- Author(s)
  Nakabayashi K*, Trujillo AM, Tayama C, Camprubi C, Yoshida W, Lapunzina P, Sanchez A, Soejima H, Aburatani H, Nagae G, Ogata T, Hata K, David Monk D
- Journal Title
  
  Hum Mol Genet20
  
  Volume: 16 Pages: 3188-97
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Mamldl knockdown reduces testosterone production and Cyp17al expression in mouse Leydig tumor cells.2011
- Author(s)
  M.Nakamura, M. Fukami, F.Sugawa, M.Miyado, K.Nonomura, T.Ogata
- Journal Title
  
  PLoS ONE
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydigtumor cells2011
- Author(s)
  M.Nakamura, M.Fukami, F.Sugawa, M.Miyado, T.Ogata, et al
- Journal Title
  
  PLoS ONE
  
  Volume: 6 Issue: 4 Pages: e19123-e19123
- DOI
  10.1371/journal.pone.0019123
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Association of primary ovarian insufficiency with a specific HLA haplotype (A*24:02-C*03:03-B*35:01) in Japanese patients2011
- Author(s)
  Ayabe T, Ogata T, et al
- Journal Title
  
  Sex Dev
  
  Volume: 5(5) Pages: 235-240
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature2011
- Author(s)
  Inoue H, Ogata T, et al
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 96(2)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd (14) pat-like phenotypes2011
- Author(s)
  K.Yamazawa, K.Nakabayashi, K.Matsuoka, T.Ogata, et al
- Journal Title
  
  J.Hum.Genet.
  
  Volume: 56 Issue: 1 Pages: 91-93
- DOI
  10.1038/jhg.2010.142
- NAID
  10030657597
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] GATA3 abnormalities in six patients with HDR syndrome2011
- Author(s)
  M.Fukami, K.Muroya, T.Miyake., M.Iso, H.Yokoi, T.Ogata, et al
- Journal Title
  
  Endocr J
  
  Volume: 58 Issue: 2 Pages: 117-121
- DOI
  10.1507/endocrj.K10E-234
- NAID
  10029587700
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes2011
- Author(s)
  Nakabayashi K, Aburatani H, et al.
- Journal Title
  
  Hum Mol Genet
  
  Volume: 20 Issue: 16 Pages: 3188-97
- DOI
  10.1093/hmg/ddr224
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20221009, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23659181, KAKENHI-PROJECT-23790775
[Journal Article] Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovanan insufficiency2011
- Author(s)
  Ishizuka B, Ogata T, et al
- Journal Title
  
  Fertil Steril
  
  Volume: 96(5) Pages: 1170-1174
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis2011
- Author(s)
  S.Dateki, M.Fukami, Y.Tanaka, G.Sasaki, T.Ogata, et al
- Journal Title
  
  Endocr J
  
  Volume: 58 Issue: 3 Pages: 155-159
- DOI
  10.1507/endocrj.K10E-251
- NAID
  10029587781
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy 142011
- Author(s)
  O.Miyazaki, G.Nishimura, M.Kagami, T.Ogata, et al
- Journal Title
  
  Ped.Radiol.
  
  Volume: 41 Issue: 8 Pages: 1013-1019
- DOI
  10.1007/s00247-011-2132-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Proximal promoter of the cytochrome P450 oxidoreductase gene : identification of microdeletions involving the untranslated exon 1 and critical function of the SP1 binding site2011
- Author(s)
  Soneda S, Ogata T, et al
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 96(11)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Identification of chromosome 15q terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis2011
- Author(s)
  Dateki S, Ogata T, et al
- Journal Title
  
  Endocr J
  
  Volume: 58(3) Pages: 155-159
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Mamld1 knockdown reduces testosterone production and Cyp17al expression in mouse Leydig tumor cells2011
- Author(s)
  Nakamura M, Ogata T, et al
- Journal Title
  
  PLoS ONE
  
  Volume: 6(4)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female2011
- Author(s)
  Brandao MP, Ogata T, et al
- Journal Title
  
  Adv Exp Med Biol
  
  Volume: 707(10) Pages: 129-31
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Steroid 5alpha-reductase-2 deficiency and fertility2011
- Author(s)
  T.Ogata, K.Matsubara, et al
- Journal Title
  
  Fertil. Steril.
  
  Volume: 95
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Steroid 5α-reductase-2 deficiency and fertility2011
- Author(s)
  Ogata T, Matsubara K
- Journal Title
  
  Fertil Steril
  
  Volume: 95(7)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Advanced maternal age and the development of Prader-Willi syndrome resulting from upd(15)mat through non-disjunction at meiosis 12011
- Author(s)
  Ogata T*, Matsubara K, Nagata E, Sano S, Murakami N, Nagai T
- Journal Title
  
  J Mamm Ova Res28
  
  Volume: 3 Pages: 96-102
- NAID
  10029898301
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 142010
- Author(s)
  Miyazaki O, Nishimura G, Kagami M, Ogata T
- Journal Title
  
  Ped Radiol
  
  Volume: (Accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd (14) pat-like phenotypes2010
- Author(s)
  Yamazawa K, Nakabayashi K, Ogata T, 他
- Journal Title
  
  J Hum Genet
  
  Volume: 56(1) Pages: 91-93
- NAID
  10030657597
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Prenatal findings of paternal uniparental disomy 14 : Delineation of further patient.2010
- Author(s)
  Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M.
- Journal Title
  
  American Journal Medical Genetics A.
  
  Volume: 152A(12) Pages: 3189-3192
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother2010
- Author(s)
  Fukami M, Ogata T, 他
- Journal Title
  
  Horm Res Peadiatr
  
  Volume: 73(6) Pages: 477-481
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency2010
- Author(s)
  Matsubara K, Iwamoto H, Yoshida A, Ogata T
- Journal Title
  
  Fertil Steril
  
  Volume: 94(7)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation.2010
- Author(s)
  K.Muroya, T.Mochizuki, M.Fukami, M.Iso K.Fujita, T.Ogata
- Journal Title
  
  Endocr.J.
  
  Volume: 157 Pages: 171-174
- NAID
  10029583790
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Identification of chromosome 15q terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis2010
- Author(s)
  Dateki S, Fukami M, Ogata T, 他
- Journal Title
  
  Endocr J
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] The 1G-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers.2010
- Author(s)
  Kagami M, J O'Sullivan M, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T.
- Journal Title
  
  PLoS Genetics
  
  Volume: 6(6)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity.2010
- Author(s)
  M.Hiraoka, H.Takahashi, H.Orimo, M.Hiraoka, T.Ogata, N.Azuma
- Journal Title
  
  Mol.Vis.
  
  Volume: 16 Pages: 2572-2577
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency2010
- Author(s)
  Fukami M, Nagai T, Mochizuki H, Muroya K, Yamada G, Takitani K, Ogata T
- Journal Title
  
  Mol Genet Metab
  
  Volume: 100(3) Pages: 269-273
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Prenatal findings of paternal uniparental disomy 14 : Delineation of further patient.2010
- Author(s)
  Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M.
- Journal Title
  
  American Journal Medical Genetics A. 152A(12)
  
  Pages: 3189-3192
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers2010
- Author(s)
  Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T*
- Journal Title
  
  PLoS Genet6
  
  Volume: 6
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Prenatal diagnosis of paternal uniparental disomy 14:delineation of further patient2010
- Author(s)
  Suzumori N*, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Suguhara-Ogasawara M
- Journal Title
  
  Am J Med Genet A152A
  
  Volume: 12 Pages: 3189-3192
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers.2010
- Author(s)
  Kagami M, J O'Sullivan M, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T.
- Journal Title
  
  PLoS Genetics 6(6)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Prokineticin signaling pathwayとKallmann症候群2010
- Author(s)
  佐藤直子, 緒方勤
- Journal Title
  
  医のあゆみ
  
  Volume: 233(9) Pages: 934-938
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother.2010
- Author(s)
  Fukami M, Maruyama T, Yoshimura Y, Ogata T
- Journal Title
  
  Horm Res Paediatr
  
  Volume: 73(6) Pages: 477-481
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] The IG-DMR and the MEG3-DMR at human chromosome 14q32.2 : hierarchical interaction and distinct functional properties as imprinting control centers2010
- Author(s)
  Kagami M, Ogata T, 他
- Journal Title
  
  PLoS Genet
  
  Volume: 6(6)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Parthenogenetic chimaerism/mosaicism with a Silver-Russell Syndrome-like Phenotype2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M,Sato T, Saitoh S, Horikawa R, Hizuka N, Ogata T*
- Journal Title
  
  J Med Genet47
  
  Volume: 11 Pages: 782-785
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Uniparental disomy and human disease : an overview.2010
- Author(s)
  K.Yamazawa, T.Ogata, A.C.Ferguson-Smith
- Journal Title
  
  Am.J.Med.Genet.C (Seminars in Medical Genetics)
  
  Volume: 154C Pages: 329-334
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother2010
- Author(s)
  Fukami M, Maruyama T, Yoshimura Y, Ogata T.
- Journal Title
  
  Horm Res Paediatr. 73(6)
  
  Pages: 477-481
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Prenatal diagnosis of paternal uniparental disomy 14 : delineation of further patient2010
- Author(s)
  Suzumori N, Ogata T, 他
- Journal Title
  
  Am J Med Genet A
  
  Volume: 152A(12) Pages: 3189-3192
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] 生殖補助医療とインプリンティング異常2010
- Author(s)
  緒方勤
- Journal Title
  
  Horm Front Gynecol
  
  Pages: 361-368
- NAID
  10020355007
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] 成長ホルモン分泌不全を来し、H19-DMRの低メチル化を認めたSilver-Russell症候群の1例2010
- Author(s)
  勝島由利子、山澤一樹、緒方勤、勝島史夫
- Journal Title
  
  ホルモンと臨
  
  Volume: 58(Accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother2010
- Author(s)
  M.Fukami, T.Maruyama, S.Dateki, N.Sato, Y.Yoshimura, T.Ogata
- Journal Title
  
  Horm.Res.Peadiatr.
  
  Volume: 73 Pages: 477-481
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Uniparental disomy and human disease: an overview2010
- Author(s)
  Yamazawa K, Ogata T, Ferguson-Smith AC*
- Journal Title
  
  Am J Med Genet C(Seminars in Medical Genetics) 154C
  
  Volume: 3 Pages: 329-334
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45,X Cell Lineage Accompanied by Biparentally Derive Autosomes.2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.A
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 47(11) Pages: 782-785
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency : identification of a single patient with LHX4 deletion2010
- Author(s)
  Dateki S, Fukami M, Ogata T, 他
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 95(8) Pages: 4043-4047
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] 中枢性性腺機能低下症2010
- Author(s)
  深見真紀, 伊達木澄人, 緒方勤
- Journal Title
  
  Horm Front Gynecol
  
  Volume: 17(2) Pages: 4-8
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45, X Cell Lineage Accompanied by Biparentally Derived Autosomes.2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.
- Journal Title
  
  Journal of Medical Genetics Epub ahead of print
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Prenatal diagnosis of paternal uniparental disomy 14 : delineation of further patient.2010
- Author(s)
  N.Suzumori, T.Ogata, E.Mizutani, Y.Hattori, K.Matsubara, 他2名
- Journal Title
  
  Am.J.Med.Genet.A
  
  Volume: 152A Pages: 3189-3192
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] 小児内分泌学の進歩2009.性分化異常症発症責任遺伝子MAMLD1の臨床的および分子遺伝学的解析2010
- Author(s)
  深見真紀、和田友香、上松あゆ美、長谷川奉延、緒方勤
- Journal Title
  
  ホルモンと臨床 57(12)
  
  Pages: 1025-1029
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 xidoreductase deficiency2010
- Author(s)
  Fukami M, Nagai T, Mochizuki H, Muroya K, Yamada G, Takitani K, Ogata T
- Journal Title
  
  Mol Genet Metab
  
  Volume: 100(3) Pages: 269-273
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Exonic polymorphisms of MAMLD1 (CXorf6) are associated with hypospadias2010
- Author(s)
  Kalfa N, Fukami M, Ogata T, 他
- Journal Title
  
  J Urol
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] 性分化異常症発症責任遺伝子MAMLD1の臨床的および分子遺伝学的解析2010
- Author(s)
  深見真紀、和田友香、上松あゆ美、長谷川奉延、緒方勤
- Journal Title
  
  ホルモンと臨床
  
  Volume: 57(12) Pages: 1025-1029
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Heterozygous OTX2 mutations are associated with variable pituitary phenotype2010
- Author(s)
  Dateki S, Fukami M, Ogata T, 他
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 95(2) Pages: 756-764
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Aromatase excess syndrome : identification of cryptic duplications and deletions leading to gain-of-function of CYP19A1 and assessment of phenotypic determinants2010
- Author(s)
  Fukami M, Ogata T, 他
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] A novel loss of function mutation in OTX2 is associated with phenotypically variable anophthalmia and isolated growth hormone deficiency2010
- Author(s)
  Ashkenazi-Hoffnung L, Ogata T, 他
- Journal Title
  
  Hum Genet
  
  Volume: 127(6) Pages: 721-729
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5alpha-reductase-2 deficiency.2010
- Author(s)
  K.Matsubara, H.Iwamoto, A.Yoshida, T.Ogata
- Journal Title
  
  Fertil.Steril.
  
  Volume: 94
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002
[Journal Article] Parthenogenetic chimaerism/mosaicism with a Silver-Russell Syndrome-like Phenotype2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Ogata T, 他
- Journal Title
  
  J Med Genet
  
  Volume: 47(11) Pages: 782-785
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency.2010
- Author(s)
  Fukami M, Nagai T, Mochizuki H, Muroya K, Yamada G, Takitani K, Ogata T.
- Journal Title
  
  Mol Genet Metab. 100(3)
  
  Pages: 269-273
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] MAMLD1 (CXorf6): a new gene involved in hypospadias.2009
- Author(s)
  Ogata T, Laporte J, Fukami M
- Journal Title
  
  Hormone Research 71(5)
  
  Pages: 245-252
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 22009
- Author(s)
  Kobayashi H, Yamada K, Morita S, Hiura H, Fukuda A, Kagami M, Ogata T, Hata K, Sotomaru Y, Kono T.
- Journal Title
  
  Genomics 93
  
  Pages: 461-472
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia or acampomelic campomelic dysplasia.2009
- Author(s)
  Wada Y, Nishimura G, Nagai T, Sawai H, Yoshikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T
- Journal Title
  
  American Journal of Medical Genetics A 149A(12)
  
  Pages: 2882-2885
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Heterozygous OTX2 mutations are associated with variable pituitary phenotype2009
- Author(s)
  Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology & Metabolism 95(2)
  
  Pages: 756-764
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 22009
- Author(s)
  Kobayashi H, Yamada K, Morita S, Hiura H, Fukuda A, Kagami M, Ogata T, Hata K, Sotomaru Y, Kono T.
- Journal Title
  
  Genomics 93(5)
  
  Pages: 461-472
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome2009
- Author(s)
  Ogata T(計10 名中4 番目), Sato N(計10名中5 番目), Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH
- Journal Title
  
  Clinical Genetics 75 (1)
  
  Pages: 65-71
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Cytochrome P450 oxidoreductase deficiency : identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients2009
- Author(s)
  Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, TIshii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology & Metabolism 94(5)
  
  Pages: 1723-1731
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns2009
- Author(s)
  Ogata T(計9 名中最終)
- Journal Title
  
  Fertility and Sterility 91 (2)
  
  Pages: 649-652
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] MAMLD1(CXorf6): a new gene involved in hypospadias2009
- Author(s)
  Ogata T, Laporte J, Fukami M
- Journal Title
  
  Hormone Research 71
  
  Pages: 245-252
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] MAMLD1 (CXorf6) : a new gene involved in hypospadias.2009
- Author(s)
  Ogata T, Laporte J, Ogata T.
- Journal Title
  
  Horm Res.(current name : Horm Res Paediatr) 71(5)
  
  Pages: 245-252
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Cytochrome P450 Oxidoreductase Deficiency : Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients.2009
- Author(s)
  Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T.
- Journal Title
  
  J Clin Endocrinol Metab. 94(5)
  
  Pages: 1723-1731
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.2009
- Author(s)
  Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology & Metabolism 94(5)
  
  Pages: 1723-1731
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] 日本人が発見にかかわった遣伝子:尿道下裂(CXorf6)2009
- Author(s)
  深見真紀、和田友香、緒方勤
- Journal Title
  
  小児科 50(7)
  
  Pages: 939-945
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] MAMLD1(CXorf6): a new gene involved in hypospadias2009
- Author(s)
  Ogata T, Laporte J, Fukami M
- Journal Title
  
  Hormone Research 71(5)
  
  Pages: 245-252
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype.2009
- Author(s)
  Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S.
- Journal Title
  
  Journal of Pediatrics 155(6)
  
  Pages: 900-903
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2.2009
- Author(s)
  Kobayashi H, Yamada K, Morita S, Hiura H, Fukuda A, Kagami M, Ogata T, Hata K, Sotomaru Y, Kono T.
- Journal Title
  
  Genomics 93(5)
  
  Pages: 461-472
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype2009
- Author(s)
  Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S.
- Journal Title
  
  Journal of Pediatrics 155(6)
  
  Pages: 900-903
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placental hypoplasia in maternal uniparental disomy for chromosome 72008
- Author(s)
  Ogata T(計5 名中最終)
- Journal Title
  
  Americam Journal of Medical Gneteics A 146 (4)
  
  Pages: 514-516
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Molecular and clinical findings and their correlations in Silver-Russell syndrome : implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.2008
- Author(s)
  Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T.
- Journal Title
  
  Journal of Molecular Medicine 86(10)
  
  Pages: 1171-1181
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Molecular mechanisms leading to the phenotypic development in paternal and maternal uniparental disomy for chromosome 142008
- Author(s)
  Ogata T, Kagami M
- Journal Title
  
  Clinical Pediatric Endocrinology 17 (4)
  
  Pages: 103-111
- NAID
  10031199582
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas2008
- Author(s)
  Yamazawa K, Kagami M, Nagai Y, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T
- Journal Title
  
  Journal of Molecular Medicine 86(10)
  
  Pages: 1171-1181
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR2008
- Author(s)
  Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T
- Journal Title
  
  Journal of Human Genetics 53(10)
  
  Pages: 950-955
- NAID
  10022603248
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] MAMLD1 (CXorf6) : a new gene for hypospadias.2008
- Author(s)
  緒方勤, 和田友香, 深見真紀
- Journal Title
  
  Sex Dev. 2(4-5)
  
  Pages: 244-250
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.2008
- Author(s)
  Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T
- Journal Title
  
  Journal of Biological Chemistry 283(9)
  
  Pages: 5525-5532
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype2008
- Author(s)
  Ogata T(計5 名中2 番目)
- Journal Title
  
  European Journal of Human Genetics 16 (8)
  
  Pages: 1019-1023
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Placental hypoplasia in maternal uniparental disomy for chromosome 72008
- Author(s)
  Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T
- Journal Title
  
  American Journal of Medical Genetics Part A 146A(4)
  
  Pages: 514-516
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Essential role of Rtl1 in the feto-maternal interface of mouse placenta2008
- Author(s)
  Ogata T(計14 名中11 番目)
- Journal Title
  
  Nature Genetics 40 (2)
  
  Pages: 243-248
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Abnormal urethra formation as a model for hypospadias of the split-hand-foot malformation (SHFM)2008
- Author(s)
  Ogata T(計12 名中3 番目)
- Journal Title
  
  European Journal of Human Genetics 16 (1)
  
  Pages: 36-44
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Placentomegaly in paternal uniparental disomy for human chromosome 142008
- Author(s)
  Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T
- Journal Title
  
  Placenta 29(8)
  
  Pages: 760-761
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Molecular and clinical findings and their correlations in Silver-Russell syndrome : implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas2008
- Author(s)
  Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T.
- Journal Title
  
  J Mol Med. 86
  
  Pages: 1171-1181
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] CXorf6(MAMRI:mastermind-related1)trmsactivates the Hes3 promoter, augmentstestosterone production, and contains the target sequence fbr SF-12008
- Author(s)
  Fukami M, Wada Y, Okada M, K:ato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T
- Journal Title
  
  Jburnal of Biological Chemistry 283(9)
  
  Pages: 5525-5532
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] MAMLD1 : a new gene for hypospadias.2008
- Author(s)
  和田友香, 深見真紀, 緒方勤
- Journal Title
  
  J Japan Soc Reproduct Endocrinol 13
  
  Pages: 37-42
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] MAMLD1 (CXorf6) : a new gene for hypospadias2008
- Author(s)
  Ogata T, Wada Y, Fukami M
- Journal Title
  
  Sexual Development 2
  
  Pages: 244-50
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] OTX2 Mutation in a patient with anophthalmia, short stature, and partial GH deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters2008
- Author(s)
  Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology & Metabolism 9号(10
  
  Pages: 3697-702
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] MAMLD1 : a new gene for hypospadias2008
- Author(s)
  Wada Y, Fukami M, Ogata T
- Journal Title
  
  Journal of Japan Society of Reproductive Endocrinology 13
  
  Pages: 37-42
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.2008
- Author(s)
  Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T.
- Journal Title
  
  Journal of Human Genetics 53(10)
  
  Pages: 950-955
- NAID
  10022603248
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Deletions and epunutations affecting the human chromosome 14q32.2 imprinted region: implications for the phenotypic development in paternal and maternal uniparental disomy for chromosome 142008
- Author(s)
  Kagami M, Sekita Y, Nishimura G, Irie M, Kaio F, Okada M,Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y. Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T.
- Journal Title
  
  Nature Genetics 402
  
  Pages: 237-242
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] MAMLD1(CXorf6): a new gene for hypospadias2008
- Author(s)
  Ogata T, Wada Y, Fukami M
- Journal Title
  
  Sexual Development 2 (4-5)
  
  Pages: 244-250
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] OTX2 Mutation in a patient with anophthalmia, short stature, and partial GH deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters2008
- Author(s)
  Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 93 (10)
  
  Pages: 3697-702
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] MAMLD1 (CXorf6) is a new gene for hypospadias.2008
- Author(s)
  Ogata T, Fukami M, Wada Y
- Journal Title
  
  Clinical Pediatric Endocrinology 17(4)
  
  Pages: 87-93
- NAID
  10031199580
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence2008
- Author(s)
  Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T
- Journal Title
  
  Journal of Biological Chemistry 283
  
  Pages: 5525-5532
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Placentomegaly in paternal uniparental disomy for human chromosome 14.2008
- Author(s)
  Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T.
- Journal Title
  
  Placenta 29(8)
  
  Pages: 760-761
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR2008
- Author(s)
  Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T.
- Journal Title
  
  J Hum Genet 53
  
  Pages: 950-955
- NAID
  10022603248
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] CXorf6 (MAMR1: mastermind-related 1) transactivates the Hes3 promoter, augments testosterone production, and contains the target sequence for SF-12008
- Author(s)
  Fukami M(筆頭), Ogata T(計10 名中最終)
- Journal Title
  
  Journal of Biological Chemistry 283 (9)
  
  Pages: 5525-5532
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] MAMLD1(CXorf6) is a new gene for hypospadias2008
- Author(s)
  Ogata T, Fukami M, Wada Y
- Journal Title
  
  Clinical Pediatric Endocrinology 17 (4)
  
  Pages: 87-93
- NAID
  10031199580
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] MAMLD1 (CXorf6): a new gene for hypospadias.2008
- Author(s)
  Ogata T, Wada Y, Fukami M
- Journal Title
  
  Sexual Development 2(4-5)
  
  Pages: 244-250
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] CXorf6 (MAMR1 : mastermind-related 1) transactivates the Hes3 promoter, augments testosterone production, and contains the target sequence for SF-12008
- Author(s)
  Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T
- Journal Title
  
  Journal of Biological Chemistry 283(9)
  
  Pages: 5525-5532
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 142008
- Author(s)
  Ogata T, Kagami M, Ferguson-Smith AC
- Journal Title
  
  Epigenetics 3 (4)
  
  Pages: 181-187
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] MAMLD1 (CXorf6) is a new gene for hypospadias2008
- Author(s)
  Ogata T, Fukami M, Wada Y.
- Journal Title
  
  Clinical Pediatric Endocrinology 17
  
  Pages: 87-93
- NAID
  10031199580
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] OTX2 Mutation in a patient with anophthalmia, short stature, and partial GH deficiency : functional studies using the IRBP, HESX1, and POU1F1 promoters2008
- Author(s)
  Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T
- Journal Title
  
  93(10)
  
  Pages: 3697-702
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Epimutation (hypomethylation) affecting the chromosome 14q32. 2 imprinted region in a girl with upd (14) mat-like phenotype2008
- Author(s)
  Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S.
- Journal Title
  
  Eur J Hum Genet 16
  
  Pages: 1019-1023
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 142008
- Author(s)
  Ogata T, Kagami M, Ferguson-Smith AC.
- Journal Title
  
  Epigenetics 3
  
  Pages: 181-187
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.2008
- Author(s)
  Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S.
- Journal Title
  
  European Journal of Human Genetics 16(8)
  
  Pages: 1019-1023
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placentomegaly in paternal uniparental disomy for human chromosome 142008
- Author(s)
  Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T
- Journal Title
  
  Placenta 29 (8)
  
  Pages: 760-761
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial GH Deficiency : Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters2008
- Author(s)
  Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 93
  
  Pages: 3697-702
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] CXorf6(MAMR1:mastermind-related 1) transactivates the Hes3 promoter, augments testosterone production, and contains the target sequence for SF-12008
- Author(s)
  Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T
- Journal Title
  
  Journal of Biological Chemistry 283(9)
  
  Pages: 5525-5532
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Genomic imprinting at the mammaliad Dlk1-Dio3 domain2008
- Author(s)
  da Rocha ST, Edwards CA, Ito M, Ogata T, Ferguson-Smith AC
- Journal Title
  
  Trends in Genetics 24 (6)
  
  Pages: 306-16
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Placentomegaly in paternal uniparental disomy for human chromosome 142008
- Author(s)
  Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T.
- Journal Title
  
  Placenta 29
  
  Pages: 760-761
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Deletions and epimutations affecting the human chromosome 14q32.2 imprinted region: implications for the phenotypic development in paternal and maternal uniparental disomy for chromosome 142008
- Author(s)
  Ogata T(計24 名中最終)
- Journal Title
  
  Nature Genetics 40 (2)
  
  Pages: 237-242
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Deletions and epimutations affecting the human chromosome 14q32. 2 imprinted region : implications for the phenotypic development in paternal and maternal uniparental disomy for chromosome 142008
- Author(s)
  Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T.
- Journal Title
  
  Nature Genetics 40(2)
  
  Pages: 237-242
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.2008
- Author(s)
  Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T.
- Journal Title
  
  J Biol Chem. 283(9)
  
  Pages: 5525-5532
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Placental hypoplasia in maternal uniparental disomy for chromosome 72008
- Author(s)
  Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T.
- Journal Title
  
  Am J Med Gent A. 146A
  
  Pages: 514-516
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR2008
- Author(s)
  Yamazawa K, Kagami M, Fukami M, Ogata T
- Journal Title
  
  Journal of Human Genetics 53 (10)
  
  Pages: 950-955
- NAID
  10022603248
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] MAMLD1 (CXorf6) is a new gene for hypospadias.2008
- Author(s)
  緒方勤, 深見真紀, 和田友香
- Journal Title
  
  Clin Pediatr Endocrinol. 17(4)
  
  Pages: 87-93
- NAID
  10031199580
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] CXorf6(MAMR1:mastemind-related1)transactivates the Hes3 promoter,augments testosterone production,and contains the target sequence for SF-12008
- Author(s)
  Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Lapgrtc J, Kitagawa M, Ogata T
- Journal Title
  
  Journal of Biological Chemistry 283(9)
  
  Pages: 5525-5532
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Molecular andclinical findings and their correlations in Silver-Russell syndrome: implications for the critical role of IGF2 as the growth determinant and the differential imprinting regulation of the IGF2-H19 domain in bodies and placentas2008
- Author(s)
  Ogata T(計15 名中最終)
- Journal Title
  
  Journal of Molecular Medicine 86 (10)
  
  Pages: 1171-1181
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST2007
- Author(s)
  Kagami M, Nagai T, Fukami M, Yamazawa K, Ogata T
- Journal Title
  
  Journal of Assisted Reproduction and Genetics 24(4)
  
  Pages: 131-136
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Hypogonadotropic hypogoBadism in an adult female with heterozygous hypomorphicmutation of SOX22007
- Author(s)
  Sato N, Kamachi Y, Kondoh H, ShimaY, Morohashi K, Honkawa R, Ogata T.
- Journal Title
  
  European Journal of Endocrinology 156(2)
  
  Pages: 167-171
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Haplotype analysis of the estrogen receptor a gene in male genital and reproductive abnormalities2007
- Author(s)
  Watanabe M, Yoshida R, Ueoka K, Aoki K, Sasagawa T, Hasegawa T, Sueoka K, Kamistsuji S, Kamatani N, Yoshimura Y, Ogata T.
- Journal Title
  
  Human Reproduction 22(5)
  
  Pages: 1279-1284
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Haplotype analysis of the estrogen receptor α gene in male genital and reproductive abnormalities2007
- Author(s)
  Ogata T(計11 名中最終)
- Journal Title
  
  Human Reproduction 22(5)
  
  Pages: 1279-1284
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Hypogonadotropic hypogonadism in an adult female with heterozygous hypomorphic mutation of SOX22007
- Author(s)
  Sato N(筆頭), Ogata T(計7 名中最終)
- Journal Title
  
  European Journal of Endocrinology 156 (2)
  
  Pages: 167-171
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency2006
- Author(s)
  Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T
- Journal Title
  
  Pediatric Research 59 (2)
  
  Pages: 276-280
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism2006
- Author(s)
  Ogata T, et al.
- Journal Title
  
  Hormone Research 67(2)
  
  Pages: 73-76
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Clinical lessons from SHOX mutation research2006
- Author(s)
  Ogata T, Fukami M
- Journal Title
  
  International Growth Monitor 16 (1)
  
  Pages: 2-6
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Clinical lessons from SHOX mutation research.2006
- Author(s)
  Ogata T, Fukami M.
- Journal Title
  
  International Growth Monitor 16 (1)
  
  Pages: 2-6
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency2006
- Author(s)
  Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T
- Journal Title
  
  Pediatric Research 59(2)
  
  Pages: 276-280
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone2006
- Author(s)
  Fukami M(計10 名中9 番目)、 Ogata T(計10 名中最終)
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 91 (7)
  
  Pages: 2643-2649
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes2006
- Author(s)
  Sakai H, Ogata T, et al.
- Journal Title
  
  American Journal of Medical Gneteics A 140 (16)
  
  Pages: 1719-1725
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Genetics of human growth.2006
- Author(s)
  Ogata T.
- Journal Title
  
  Clinical Pediatric Endocrinology 15 (2)
  
  Pages: 45-53
- NAID
  130004430985
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Transactivation function of a~800 bp evolutionally conserved sequence at the SHOX 3' region : implication for the downstream enhancer.2006
- Author(s)
  Fukami M, Kato F, Tajima T, Yokoya S, Ogata T.
- Journal Title
  
  American Journal of Human Genetics 78 (1)
  
  Pages: 167-170
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] CXorf6 is a causative gene for hypospadias2006
- Author(s)
  Fukami M, Ogata T, et al.
- Journal Title
  
  Nature Genetics 38(12)
  
  Pages: 1369-1371
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-12006
- Author(s)
  Wada Y, Okada M, Fukami M, Sasagawa I, Ogata T
- Journal Title
  
  Fertility and Sterility 85 (3)
  
  Pages: 787-790
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation2006
- Author(s)
  Ogata T, et al.
- Journal Title
  
  Endocrine Journal 53(6)
  
  Pages: 741-743
- NAID
  10020612413
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia2006
- Author(s)
  Hirose Y, Ogata T, et al.
- Journal Title
  
  Journal of Human Gneteics 51 (8)
  
  Pages: 706-10
- NAID
  10019286019
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Genetics of human growth2006
- Author(s)
  Ogata T.
- Journal Title
  
  Clinical Pediatric Endocrinology 15 (2)
  
  Pages: 45-53
- NAID
  130004430985
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son : implication for apparently mutation negative Kallmann syndrome2006
- Author(s)
  Sato N, Ohyama K, Fukami M, Okada M, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 91(4)
  
  Pages: 1415-1418
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Transactivation function of a ~800 bp evolutionally conserved sequence at the SHOX 3' region : implication for the downstream enhancer.2006
- Author(s)
  Fukami M, Kato F, Tajima T, Yokoya S, Ogata T
- Journal Title
  
  American Journal of Human Genetics 78 (1)
  
  Pages: 167-170
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-12006
- Author(s)
  Wada Y, Okada M, Fukami M, Sasagawa I, Ogata T
- Journal Title
  
  Fertility and Sterility 85(3)
  
  Pages: 787-790
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation2006
- Author(s)
  Ogata T(計6 名中筆頭)
- Journal Title
  
  Endocrine Journal 53 (6)
  
  Pages: 741-743
- NAID
  10020612413
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son: implication for apparently mutation negative Kallmann syndrome2006
- Author(s)
  Sato N, Ohyama K, Fukami M, Okada M, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 91 (4)
  
  Pages: 1415-1418
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] CXorf6 is a causative gene for hypospadias2006
- Author(s)
  Fukami M(筆頭), Ogata T(計12 名中最終)
- Journal Title
  
  Nature Genetics 38 (12)
  
  Pages: 1369-1371
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Clinical features in SHOX haploinsufficiency : diagnostic and therapeutic implications2006
- Author(s)
  Ogata T, Fukami M
- Journal Title
  
  Growth, Genetics ＆ Hormones 20 (2)
  
  Pages: 17-23
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Association of cryptorchidism with a specific haplotype of the estrogen receptor α gene: implication for the susceptibility to estrogenic environmental endocrine disruptors2005
- Author(s)
  Yoshida R, Fukami M, Sasagawa I, Hasegawa T, Kamatani N, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 90(8)
  
  Pages: 4716-4721
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes2005
- Author(s)
  Ogata T, Yoshida R
- Journal Title
  
  Pediatric Endocrinology Reviews 2(4)
  
  Pages: 669-674
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.2005
- Author(s)
  Fukami, M., Horikawa, R., Nagai, T., Tanaka, T., Naiki, Y., Sato, N., Okuyama, T., Nakai, H., Soneda, S., Tachibana, K., Matsuo, N., Sato, S., Homma, K., Nishimura, G., Hasegawa, T., Ogata, T.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 90
  
  Pages: 414-426
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Gonadotropin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families2005
- Author(s)
  Sato N, Hasegawa T, Hori N, Fukami M, Yoshimura Y, Ogata T
- Journal Title
  
  Human Reproduction 20 (8)
  
  Pages: 2173-2178
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Segmental and full paternal isodisomy for chromosome 14 in three patients: localization of the critical region and implication for the clinical features.2005
- Author(s)
  Ogata T(計9 名中最終)
- Journal Title
  
  American Journal of Medical Genetics A 138 (2)
  
  Pages: 127-132
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.2005
- Author(s)
  Ogata T, Yoshida R.
- Journal Title
  
  Pediatric Endocrinology Reviews 2 (4)
  
  Pages: 669-674
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Clinical features in SHOX haploinsufficiency : diagnostic and therapeutic implications.2005
- Author(s)
  Ogata T, Fukami M.
- Journal Title
  
  Growth, Genetics ＆ Hormones 20 (2)
  
  Pages: 17-23
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother : implication for the SHOX enhancer2005
- Author(s)
  Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T
- Journal Title
  
  American Journal of Medical Genetics A 137(1)
  
  Pages: 72-76
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] PTPN11 mutations and genotype-phenotype correlations in Noonanand LEOPARD syndromes2005
- Author(s)
  Ogata T, Yoshida R
- Journal Title
  
  Pediatric Endocrinology Reviews 2 (4)
  
  Pages: 669-674
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother : implication for the SHOX enhancer2005
- Author(s)
  Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T
- Journal Title
  
  American Journal of Medical Genetics A 137 (1)
  
  Pages: 72-76
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Clinical features in SHOX haploinsufficiency : diagnostic and thera peutic implications2005
- Author(s)
  Ogata T, Fukami M
- Journal Title
  
  Growth, Genetics ＆ Hormones 20 (2)
  
  Pages: 17-23
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45, X/46, X, r(X) infant and Leri-Weill dyschondrosteosis in her 46, XX mother : implication for the SHOX enhancer.2005
- Author(s)
  Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T.
- Journal Title
  
  American Journal of Medical Genetics A 137 (1)
  
  Pages: 72-76
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling2005
- Author(s)
  Ogata T(計7 名中最終)
- Journal Title
  
  Endocrine Journal 52 (1)
  
  Pages: 83-88
- NAID
  10014483728
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Gonadotropin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1 : report of three families2005
- Author(s)
  Sato N, Hasegawa T, Hori N, Fukami M, Yoshimura Y, Ogata T
- Journal Title
  
  Human Reproduction 120(8)
  
  Pages: 2173-2178
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Association of common LH variant with hyperfunctional promoter in a Japanese infertile woman2005
- Author(s)
  Ogata T(計5 名中2 番目)
- Journal Title
  
  Endocrine Journal 52 (6)
  
  Pages: 781-784
- NAID
  10016916602
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Association of cryptorchidism with a specific haplotype of the estrogen receptor α gene : implication for the susceptibility to estrogenic environmental endocrine disruptors2005
- Author(s)
  Yoshida R, Fukami M, Sasagawa I, Hasegawa T, Kamatani N, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 90(8)
  
  Pages: 4716-4721
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis : molecular and clinical studies in 10 patients2005
- Author(s)
  Fukami M, Ogata T, et al.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 90(1)
  
  Pages: 414-426
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients2005
- Author(s)
  Fukami M(筆頭), Ogata T(計16 名中最終)
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 90
  
  Pages: 414-426
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Clinical features in SHOX haploinsufficiency : diagnostic and therapeutic implications2005
- Author(s)
  Ogata T, Fukami M
- Journal Title
  
  Growth, Genetics & Hormones 20(2)
  
  Pages: 17-23
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-12005
- Author(s)
  Wada Y, Okada M, Hasegawa T, Ogata T
- Journal Title
  
  Endocrine Journal 52(4)
  
  Pages: 445-448
- NAID
  130004769945
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins2004
- Author(s)
  Ogata T(67 名中最終)
- Journal Title
  
  Fertility and Sterility 82
  
  Pages: 1067-1071
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene : implication for the susceptibility to dioxins2004
- Author(s)
  Watanabe M, Sueoka K, Sasagawa I, Nakabayashi A, Yoshimura Y, Ogata T
- Journal Title
  
  Fertility and Sterility 82(suppl 3)
  
  Pages: 1067-1071
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.2004
- Author(s)
  Yoshida, R., Nagai, T., Hasegawa, T., Kinoshita, E., Tanaka, T., Ogata, T.
- Journal Title
  
  American Journal of Medical Genetics 130A(4)
  
  Pages: 432-434
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Clinical features in SHOX haploinsufficiency : diagnostic and therapeutic implications2004
- Author(s)
  Ogata T, Fukami M
- Journal Title
  
  Growth, Genetics & Hormones 20(2)
  
  Pages: 17-23
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Clinical features in SHOX haploinsufficiency: diagnostic and therapeutic implications.2004
- Author(s)
  Ogata, T., Fukami, M.
- Journal Title
  
  Growth, Genetics & Hormones 20(2)
  
  Pages: 17-23
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Premature ovarian failure in a female with proximal symphalangism and NOG mutation.2004
- Author(s)
  Kosaki, K., Sato, S., Hasegawa, T., Matsuo, N., Suzuki, T., Ogata, T.
- Journal Title
  
  Fertility and Sterility 81(4)
  
  Pages: 1137-1139
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients2004
- Author(s)
  Sato N, Katsumata N, Ogata T, et al.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 89(3)
  
  Pages: 1079-1088
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Testicular dysgenesis without adrenal insufficiency in a 46, XY patient with a heterozygous inactive mutation of steroidogenic factor-12004
- Author(s)
  Hasegawa T, Fukami_M, Sato N, Sasaki G, Fukutani K, Morohashi K, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 89(12)
  
  Pages: 5930-5935
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-12004
- Author(s)
  Hasegawa T, Fukami M, Sato N, Sasaki G, Fukutani K, Morohashi K, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 89
  
  Pages: 5930-5935
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] PTPNll mutation analysis and clinical assessment in 45 patients with Noonan syndrome.2004
- Author(s)
  Yoshida R, Ogata T, et al.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 89(7)
  
  Pages: 3359-3364
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens.2004
- Author(s)
  Fukami, M., Nishi, Y., Hasegawa, Y., Miyoshi, Y., Okabe, T., Haga, N., Nagai, T., Tanaka, T., Ogata, T.
- Journal Title
  
  Endocrine Journal 51(2)
  
  Pages: 197-200
- NAID
  10012888213
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] A 3 bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia.2004
- Author(s)
  Yoshida, R., Miyata, M., Nagai, T., Yamazaki, T., Ogata, T.
- Journal Title
  
  American Journal of Medical Genetics 128A(1)
  
  Pages: 63-66
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients2004
- Author(s)
  Sato N(筆頭), Ogata T(計19 名中最終)
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 89 (3)
  
  Pages: 1079-1088
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Protein tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.2004
- Author(s)
  Yoshida, R., Hasegawa, T., Hasegawa, Y., Nagai, T., Kinoshita, E., Tanaka, Y., Kanegane, H., Ohyama, K., Onishi, T., Hanew, K., Okuyama, T., Horikawa, R., Tanaka, T., Ogata, T.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 89(7)
  
  Pages: 3359-3364
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in 53 Japanese boys with micropenis2004
- Author(s)
  Ogata T(計7 名中最終)
- Journal Title
  
  Journal of Urology 172 (1)
  
  Pages: 319-324
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Genitourinary phenotype in XX patients with distal 9p monosomy2004
- Author(s)
  Fujimoto Y, Okuyama T, Iijima M, Tanaka T, Horikawa R, Yamada K, Ogata T
- Journal Title
  
  Molecular Genetics and Metabolism 82(2)
  
  Pages: 173-179
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] PTPN11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.2004
- Author(s)
  Yoshida R, Ogata T, et al.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 89(7)
  
  Pages: 3359-3364
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Genitourinary phenotype in XX patients with distal 9p monosomy2004
- Author(s)
  Ogata T(計7 名中最終)
- Journal Title
  
  Molecular Genetics and Metabolism 82 (2)
  
  Pages: 173-179
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Statural growth in 31 Japanese patients with SHOX haploinsufficiency : support for a disadvantageous effect of gonadal estrogens2004
- Author(s)
  Fukami M, Ogata T, et al.
- Journal Title
  
  Endocrine Journal 51(2)
  
  Pages: 197-200
- NAID
  10012888213
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] A 3 bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia2004
- Author(s)
  Ogata T, Yoshida R, et al.
- Journal Title
  
  American Journal of Medical Genetics 128A(1)
  
  Pages: 63-66
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Longitudinal auxological study in a female with SHOX haploinsuf ficiency and normal ovarian function2003
- Author(s)
  Fukami M, Ogata T, et al.
- Journal Title
  
  European Journal of Endocrinology 149(4)
  
  Pages: 337-341
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features.2003
- Author(s)
  Ogata, T., Sato, S., Hasegawa, T., Kosaki, K.
- Journal Title
  
  Endocrine Journal 50(3)
  
  Pages: 319-324
- NAID
  130004443046
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX-1 and IL1RAPL.2003
- Author(s)
  Sasaki, R., Inamo, Y., Saitoh, M., Hasegawa, T., Kinoshita, E., Ogata, T.
- Journal Title
  
  Endocrine Journal 50(3)
  
  Pages: 303-307
- NAID
  50000262998
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Longitudinal auxological study in a female with SHOX haploinsufficiency and normal ovarian function.2003
- Author(s)
  Fukami, M., Matsuo, N., Hasegawa, T., Sato, S., Ogata, T.
- Journal Title
  
  European Journal of Endocrinology 149(4)
  
  Pages: 337-341
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] SHOX defects in idiopathic short stature2002
- Author(s)
  Ogata T
- Journal Title
  
  Journal of Pediatric Endocrinology and Metabolism 15(12)
  
  Pages: 1439-1440
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-12470171
[Journal Article] Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency2002
- Author(s)
  Ogata T, et al.
- Journal Title
  
  European Journal of Endocrinology 147(2)
  
  Pages: 249-254
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-12470171
[Journal Article] Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature2002
- Author(s)
  Rappold GA, Ogata T, et al.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 87(3)
  
  Pages: 1402-1406
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-12470171
[Journal Article] Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency.2002
- Author(s)
  Ogata T, Inokuchi M, Ogawa M.
- Journal Title
  
  European Journal of Endocrinology 147(2)
  
  Pages: 249-254
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-12470171
[Journal Article] SHOX haploinsufficiency and its modifying factors2002
- Author(s)
  Ogata T
- Journal Title
  
  Journal of Pediatric Endocrinology and Metabolism 15(12)
  
  Pages: 1289-1294
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-12470171
[Journal Article] Characterization of the human arylhydrocarbon receptor repressor (AHRR) gene and association between micropenis and Pro186Ala polymorphism in the AHRR gene.2002
- Author(s)
  Fujita H, Kosaki R, Yoshihashi H, Ogata T, Tomita M, Takahashi T, Matsuo N, Kosaki K.
- Journal Title
  
  Teratology 65(1)
  
  Pages: 10-18
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-12470171
[Journal Article] Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.2002
- Author(s)
  Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 87(3)
  
  Pages: 1402-1406
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-12470171
[Journal Article] SHOX haploinsufficiency and its modifying factors.2002
- Author(s)
  Ogata T.
- Journal Title
  
  Journal of Pediatric Endocrinology and Metabolism 15(12)
  
  Pages: 1289-1294
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-12470171
[Journal Article] SHOX defects in idiopathic short stature.2002
- Author(s)
  Ogata T.
- Journal Title
  
  Journal of Pediatric Endocrinology and Metabolism 15(12)
  
  Pages: 1439-1440
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-12470171
[Journal Article] SHOX nullizygosity and haploinsufficiency in a Japanese family : implication for the development of Turner skeletal features.2002
- Author(s)
  Ogata T, Muroya K, Sasaki G, Nishimura G, Kitoh H, Hattori T.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 87(3)
  
  Pages: 1390-1394
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-12470171
[Journal Article] SHOX nullizygosity and haploinsufficiency in a Japanese family : implication for the development of Turner skeletal features2002
- Author(s)
  Ogata T, et al.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 87(3)
  
  Pages: 1390-1394
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-12470171
[Journal Article] Isolated hypogonadotropic hypogonadism in a female with tachykinin receptor 3 gene mutations.
- Author(s)
  Fukami M, Maruyama T, Yoshimura Y, Ogata T
- Journal Title
  
  Hormone Research (in press)
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Complex genomic rearrangements in the SOX9 5' region in a patient with Pierre Robin sequence and hypoplastic left scapula
- Author(s)
  Fukami M, Ogata T, et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Langer mesomelic dysplasia in a 45,X/46,X, r(X) infant with loss of SHOX from the ring X Chromosome and a microdeletion in the SHOX 3' region of the cytogenetically normal X chromosome.
- Author(s)
  Fukami M, Ogata T, et al.
- Journal Title
  
  American Journal of Medical Genetics In press
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification
- Author(s)
  Nagasaki K*, Tsuchuya S, Saitoh A, Ogata T, Fukami M
- Journal Title
  
  Endocr J (accepted)
- NAID
  10031156746
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] 46, XY gonadal dysgenesis : new SRY point mutation in two siblings with paternal germ line mosaicism
- Author(s)
  Stoppa-Vaucher S, Ogata T, et al
- Journal Title
  
  Clin Genet
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Association of cryptorchidism with a specific haplotype of the estrogen receptor a gene implication for the susceptibility to estrogenic environmental endocrine disruptors
- Author(s)
  Yoshida R, Fukami M, Sasagawa I, Hasegawa T, Kamatani N, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism In press
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure : Implications for genetic susceptibility to estrogenic environmental endocrine disruptors
- Author(s)
  Ogata T, Fukami M, et al
- Journal Title
  
  Int J Androl
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] MAMLD1 and 46,XY disorders of sex development
- Author(s)
  Ogata T, Sano S, et al
- Journal Title
  
  Seminars in Reproductive Medicine
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.
- Author(s)
  Ogata, T., Yoshida, R.
- Journal Title
  
  Pediatric Endocrinology Reviews. (in press)
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Complex genomic rearrangements in the SOX95' region in a patient with Pierre Robin sequence and hypoplastic left scapula
- Author(s)
  Fukami M, Ogatata T, et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns
- Author(s)
  Sugawa F, Wada Y, Okada M, Maruyama T, Uchida H, Arase T, Hamada N, Ishizuka B, Ogata T
- Journal Title
  
  Fertility and Sterility In press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Langer mesomelic dysplasia in a 45,X/46,X r(X) infant with loss of SHOX from the ring X Chromosome and a microdeletion in the SHOX 3' region of the cytogenetically normal X chromosome.
- Author(s)
  Fukami M, Ogata T, et al.
- Journal Title
  
  American Journal of Medical Genetics (In press)
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Haplotype analysis of ESR2 in Japanese patients with spermatogenic failure : Implications for genetic susceptibility to estrogenic environmental endocrine disruptors
- Author(s)
  Ogata T, Fukami M, et al
- Journal Title
  
  Int J Androl
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] MAMLD1(CXorf6): a new gene involved in hypospadias
- Author(s)
  Ogata T, Laporte J, Fukami M
- Journal Title
  
  Hormone Research (in press)
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] MAMLD1 and 46, XY disorders of sex development
- Author(s)
  Ogata T, Sano S, et al
- Journal Title
  
  Seminars in Reproductive Medicine
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers
- Author(s)
  Kagami M, J O'Sullivan M, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T.
- Journal Title
  
  PLoS Genetics (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency
- Author(s)
  Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T
- Journal Title
  
  Pediatric Research (In press)
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Molecular bases and phenotypic determinants of aromatase excess syndrome
- Author(s)
  Fukami M, Shozu M, Ogata T
- Journal Title
  
  Int J Endocrinol
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Premature ovanan tallure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns
- Author(s)
  Sugawa F, Wada Y, Okada M, Maruyama T, Uchida H, Arase T, Hamada N, Ishizuka B, Ogata T
- Journal Title
  
  Fertility and Sterility in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1
- Author(s)
  Wada Y, Okada M, Fukami M, Sasagawa I, Ogata T
- Journal Title
  
  Fertility and Sterility (In press)
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son : implication for apparently mutation negative Kallmann syndrome
- Author(s)
  Sato N, Ohyama K, Fukami M, Okada M, Ogata T
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism (In press)
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Association between fetal myocardial tissue Doppler indices before birth and gestational age-specific birth weight in low-risk term pregnancies
- Author(s)
  Sekii K, Ogata T, et al
- Journal Title
  
  Ultrasound Obstet Gynecol
  
  Volume: (accepted)(Epub ahead of print)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] PTPNll mutations and genotype-phenotype correlations in Noonan and LEOARD syndromes
- Author(s)
  Ogata T, Yoshida R
- Journal Title
  
  Pediatric Endocrinology Reviews In press
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Genetics of human growth
- Author(s)
  Ogata T.
- Journal Title
  
  Clinical Pediatric Endocrinology (In press)
- NAID
  130004430985
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Langer mesomelic dysplasia in a 45,X/46,X, r(X) infant with loss of SHOX from the ring X Chromosome and a microdeletion in the SHOX 3' region of the cytogenetically normal X chromosome.
- Author(s)
  Fukami, M., Okuyama, T., Yamamori, S., Nishimura, G., Ogata, T.
- Journal Title
  
  American Journal of Medical Genetics. (in press)
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Mamld1 knockdown reduces testosterone production and Cyp17a1 expression in mouse Leydig tumor cells.
- Author(s)
  Nakamura M, Fukami M, Sugawa F, Miyado M, Nonomura K, Ogata T
- Journal Title
  
  PLoS ONE in press
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] Polymorphisms of MAMLD1 gene in bypospadias
- Author(s)
  Kalfa N, Ogata T, et al
- Journal Title
  
  J Pediatr Urol
  
  Volume: 7(6) Pages: 585-91
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients
- Author(s)
  Fukami M(筆頭), Ogata T(計21 名中最終)
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism (in press)
- Data Source
  KAKENHI-PROJECT-16086215
[Journal Article] Association between fetal myocardial tissue Doppler indices before birth and gestational age-specific birth weight in low-risk term pregnancies
- Author(s)
  Sekii K, Ogata T, et al
- Journal Title
  
  Ultrasound Obstet Gynecol
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Transactivation function of a 〜800 bp evolutionally conserved sequence at the SHOX 3' region : implication for the downstream enhancer.
- Author(s)
  Fukami M, Kato F, Tajima T, Yokoya S, Ogata T
- Journal Title
  
  American Journal of Human Genetics (In press)
- Data Source
  KAKENHI-PROJECT-17591132
[Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome
- Author(s)
  Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Tamazawa K, Ogata T*
- Journal Title
  
  PLoS One (accepted)
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Aromatase Excess Syndrome : Identification of Cryptic Duplications and Deletions Leading to Gain-of-Function of CYP19A1 and Assessment of Phenotypic Determinants.
- Author(s)
  Fukami M, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T
- Journal Title
  
  J Clin Endocrinol Metab. in press
- Data Source
  KAKENHI-PROJECT-20390265
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45,X Cell Lineage Accompanied by Biparentally Derived Autosomes
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.
- Journal Title
  
  Journal of Medical Genetics (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Molecular bases and phenotypic determinants of aromatase excess syndrome
- Author(s)
  Fukami M, Shozu M, Ogata T
- Journal Title
  
  Int J Endocrinol
  
  Volume: (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency.
- Author(s)
  Fukami M, Nagai T, Mochizuki H, Muroya K, Yamada G, Taketani K, Ogata T
- Journal Title
  
  Molecular Genetics and Metabolism (in press)
- Data Source
  KAKENHI-PROJECT-19390290
[Journal Article] PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes
- Author(s)
  Ogata T, Yoshida R
- Journal Title
  
  Pediatric Endocrinology Reviews (In press)
- Data Source
  KAKENHI-PROJECT-15591150
[Journal Article] Clinical lessons from SHOX mutation research
- Author(s)
  Ogata T, Fukami M
- Journal Title
  
  International Growth Monitor (In press)
- Data Source
  KAKENHI-PROJECT-17591132
[Patent] Estrogen receptor alpha gene, genomic DNA, and diagnosis marker2009
- Inventor(s)
  緒方勤, 長谷川奉延, 鎌谷直之
- Filing Date
  2009-10-13
- Data Source
  KAKENHI-PROJECT-19390290
[Patent] Estrogen receptor alpha gene, genomic DNA, and diagnosis marker2009
- Inventor(s)
  緒方勤
- Industrial Property Rights Holder
  成育医療センター
- Filing Date
  2009-10-13
- Data Source
  KAKENHI-PROJECT-19390290
[Patent] 新規性分化異常症責任遺伝子MHX(Cxor6)によるNotch リポーター遺伝子転写活性化の同定2006
- Inventor(s)
  緒方勤
- Industrial Property Rights Holder
  国立成育医療センター
- Filing Date
  2006-04-07
- Data Source
  KAKENHI-PROJECT-16086215
[Patent] 尿道下裂および他のストロゲン依存性疾患発症のリスクとエストロゲン製剤効果の評価法としてのエストロゲン受容体α 遺伝子のSNP解析法2006
- Inventor(s)
  緒方勤
- Industrial Property Rights Holder
  国立成育医療センター
- Filing Date
  2006-04-19
- Overseas
- Data Source
  KAKENHI-PROJECT-16086215
[Patent] エストロゲン受容体α遺伝子におけるハプロタイプブロックの同定および特定ハプロタイプによる男児外陰部異常症発症感受性亢進2004
- Inventor(s)
  緒方勤
- Industrial Property Rights Holder
  国立成育医療センター
- Filing Date
  2004-08-30
- Data Source
  KAKENHI-PROJECT-16086215
[Presentation] 第６回論文執筆応援セミナー2023
- Author(s)
  緒方勤
- Organizer
  第45回日本小児遺伝学会
- Invited
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] ヒト性分化疾患研究：遺伝と環境の観点から2023
- Author(s)
  緒方勤
- Organizer
  性の研究会 Beyond Sex Differentiation
- Invited
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] NIPT（新型出生前検査）について2023
- Author(s)
  緒方勤
- Organizer
  母子保健セミナー
- Invited
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] Plenary Lecture: Genomic imprinting and its clinical relevance: lesson from Kagami-Ogata syndrome and Temple syndrome.2023
- Author(s)
  Ogata T
- Organizer
  11th International Meeting of Pediatric Endocrinology
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias.2023
- Author(s)
  Ogata T
- Organizer
  11th International Meeting of Pediatric Endocrinology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] 性染色体異常症と成長2022
- Author(s)
  緒方勤
- Organizer
  第40回小児内分泌・代謝研究会信濃町フォーラム
- Invited
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] 多因子疾患としての性分化疾患発症機序2022
- Author(s)
  緒方勤
- Organizer
  令和3年度第４回周産期医療研究会
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] もっと研究しよう・論文も書こう2022
- Author(s)
  緒方勤
- Organizer
  第55回日本小児内分泌学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] 生殖補助医療とインプリント異常：シンポジウムにより誕生した児の健康2022
- Author(s)
  緒方勤
- Organizer
  第67回日本生殖医学会学術講演会・総会
- Invited
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] 多因子疾患としての性分化疾患発症機序2022
- Author(s)
  緒方勤
- Organizer
  和3年度第４回周産期医療研究会
- Invited
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] SGA発症の遺伝的機序2022
- Author(s)
  緒方勤
- Organizer
  Next Generation Meeting Current and future management in growth disorders.
- Invited
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] ヌーナン症候群における成長・成熟2022
- Author(s)
  緒方勤
- Organizer
  ヌーナン症候群類縁疾患合同シンポジウム (AMED研究班主催)
- Invited
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] SGA: 遺伝的機序と思春期・性分化2021
- Author(s)
  緒方勤
- Organizer
  Next Generation Meeting Current and future management in growth disorders
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] SGA：思春期・性分化を主に2021
- Author(s)
  緒方勤
- Organizer
  Next Generation Meeting Current and future management in growth disorders
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] SGAをめぐって2021
- Author(s)
  緒方勤
- Organizer
  Next Generation Meeting Current and future management in growth disorders
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] ヌーナン症候群：診断と治療のupdate2021
- Author(s)
  緒方勤
- Organizer
  第43回日本小児遺伝学会学術集会企業共催セミナー
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] IRUD拠点病院としての工夫：検体処理、NGS解析データマイニング、機能解析を主に2021
- Author(s)
  緒方勤
- Organizer
  IRUDワークショップ
- Data Source
  KAKENHI-PROJECT-20H00539
[Presentation] 世界初の生殖細胞由来GNAS機能亢進型バリアントの同定2020
- Author(s)
  宮戸真美，深見真紀，緒方勤
- Organizer
  第30回バゾプレシン研究会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] Germline-derived gain-of-function variants of Gsα-coding GNAS gene identified in nephrogenic syndrome of inappropriate antidiuresis: the first report2019
- Author(s)
  Miyado M, Fukami M, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Masunaga Y, Saitsu H and Ogata T.
- Organizer
  第53回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] Germline-derived Gain-of-Function Variants of Gsα-coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis: The First report2019
- Author(s)
  Fukami M, Miyado M, Takada S, Sasaki G, K Nagasaki, Masunaga M, Saitsu H, Ogata T
- Organizer
  The 58th Annual Meeting of European Pediatric Endocrinology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] 性スペクトラム2018
- Author(s)
  緒方勤
- Organizer
  第28回日本内分泌学会臨床内分泌代謝アップデート
- Invited
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] IGF2: a paternally expressed gene essential for pre- and post-natal growth and placental development. In: Symposium Novel gene discoveries in Mendelian diseases.2018
- Author(s)
  Ogata T
- Organizer
  2018 International Joint Conference on Genetics & Medicine (Genetic Society of Korea, Korean Society of Medical Genetics & Genomics, and East-Asian Union of Human Genetics Society).
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] Kagami-Ogata症候群：発症機序解明と臨床診断基準・遺伝学的診断法の確立2018
- Author(s)
  緒方勤
- Organizer
  日本人類遺伝学会第63回大会
- Invited
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] 性スペクトラム2018
- Author(s)
  緒方勤
- Organizer
  第28回日本内分泌学会臨床内分泌代謝アップデート
- Invited
- Data Source
  KAKENHI-PLANNED-17H06428
[Presentation] IGF2: a paternally expressed gene essential for pre- and post-natal growth and placental development2018
- Author(s)
  Ogata T
- Organizer
  International Joint Conference on Genetics & Medicine
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-17H06428
[Presentation] 20番染色体母性片親性ダイソミー 5 例の臨床像の検討2018
- Author(s)
  川嶋　明香、中村　明枝、井上　毅信、堀川　玲子、涌井　敬子、髙野　享子、水野　誠司、椿　淳子、緒方　勤、深見　真紀、鏡　雅代
- Organizer
  第40回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] ARTとインプリンティング疾患発症の関連について2018
- Author(s)
  緒方勤
- Organizer
  第63回日本生殖医学会学術講演会・総会
- Invited
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] PHP-I 型の 69 例における（エピ）遺伝子型－表現型解析2018
- Author(s)
  佐野伸一朗，中村　明枝，松原　圭子，加藤　芙弥子，深見　真紀，鏡　雅代，緒方　　勤
- Organizer
  第40回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] 小児の遺伝性間脳下垂体疾患2018
- Author(s)
  緒方勤
- Organizer
  第28回日本間脳下垂体腫瘍学会
- Invited
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] ヒトの成長と成熟：Auxologyとインプリンティングの観点から2017
- Author(s)
  緒方　勤
- Organizer
  第90回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] 20番染色体母性片親性ダイソミー5例の臨床像の検討2017
- Author(s)
  川嶋　明香、中村　明枝、井上　毅信、堀川　玲子、高野　亨子、水野　誠司、椿　淳子、緒方　勤、深見　真紀、鏡　雅代
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] 6番染色体父性ダイソミーによる6q24関連糖尿病の2症例2017
- Author(s)
  大高　幸之助、中島　信一、加藤　芙弥子、山口　理恵、増永　陽平、小野　裕之、永田　絵子、藤澤　泰子、依藤　亨、緒方　勤
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] Beckwith-Wiedemann syndromeとPHP-Ibの臨床像を呈したMultilocus imprinting disturbanceの女児例2017
- Author(s)
  佐野　伸一朗、長崎　啓介、松原　圭子、中村　明枝、深見　真紀、緒方　勤
- Organizer
  第90回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] DE NOVO IGF2 MUTATION ON THE PATERNAL ALLELE IN A PATIENT WITH SILVER-RUSSELL SYNDROME AND ECTRODACTYLY2017
- Author(s)
  Kaori Yamoto, Hirotomo Saitsu, Norio Nakagawa, Hisakazu Nakajima, Tatsuji Hasegawa, Yasuko Fujisawa, Masayo Kagami, Maki Fukami, Tsutomu Ogata
- Organizer
  The 10th International Meeting of Pediatric Endocrinology
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] 偽性副甲状腺機能低下症の（epi）genotype-phenotype correlation2017
- Author(s)
  佐野　伸一朗、中村　明枝、松原　圭子、長崎　啓介、深見　真紀、緒方　勤、鏡　雅代
- Organizer
  第90回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] Silver-Russell症候群とTemple症候群における臨床および遺伝学的診断の進歩2017
- Author(s)
  緒方　勤
- Organizer
  日本人類遺伝学会　第62回大会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] IGF2遺伝子のdenovo変異が父親由来アレルで同定された裂手症合併Silver-Russell症候群の1例2017
- Author(s)
  矢本　香織、才津　浩智、中川　憲夫、中島　久和、長谷川　龍志、藤澤　泰子、鏡　雅代、深見　真紀、緒方　勤
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] PHP-I型の69例における（エピ）遺伝子型－表現型解析2017
- Author(s)
  佐野　伸一朗、中村　明枝、松原　圭子、加藤　芙弥子、深見　真紀、鏡　雅代、緒方　勤
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] Temple症候群32症例における遺伝子診断に基づいた臨床像の検討2017
- Author(s)
  鏡　雅代、長崎啓祐、小崎里華、齋藤伸治、中村明枝、松原圭子、深見真紀、緒方　勤
- Organizer
  第120回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] 患者生体試料を用いた14q32.2インプリンティング領域のメチローム・トランスクリプトーム解析2017
- Author(s)
  鏡　雅代、松原　圭子、早野　崇英、細道　一善、高田　修治、井ノ上　逸朗、緒方　勤、深見　真紀
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-17H04204
[Presentation] 小児副腎低形成症ならびに小児副腎皮質腫瘍の分子病態：アルドステロン・コルチゾール分泌異常症の新展開2016
- Author(s)
  藤澤泰子　緒方勤
- Organizer
  第23回日本ステロイドホルモン学会学術集会
- Place of Presentation
  倉敷
- Year and Date
  2016-01-15
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] ターナー症候群の発症機序2016
- Author(s)
  緒方勤
- Organizer
  第15回東海不妊内分泌研究会
- Place of Presentation
  浜松
- Year and Date
  2016-01-30
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 性染色体の最新知識2016
- Author(s)
  緒方勤
- Organizer
  第17回東日本ターナー講演会
- Place of Presentation
  東京
- Year and Date
  2016-04-09
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 中枢性性線機能低下症の基礎と臨床2016
- Author(s)
  緒方勤
- Organizer
  第20回日本日本生殖内分泌学会特別講演
- Place of Presentation
  神戸
- Year and Date
  2016-01-09
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 性分化疾患発症機序：単一遺伝子・多因子・ゲノム構造の観点から2016
- Author(s)
  緒方勤
- Organizer
  第23回小児医療セミナー
- Place of Presentation
  東京
- Year and Date
  2016-02-27
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 性分化疾患の基礎と臨床2016
- Author(s)
  緒方勤
- Organizer
  第1回彩の会学術講演会
- Place of Presentation
  鹿児島
- Year and Date
  2016-02-17
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 先天性内分泌疾患とゲノム構造異常2015
- Author(s)
  緒方勤
- Organizer
  第60回日本人類遺伝学会教育講演
- Place of Presentation
  東京
- Year and Date
  2015-10-14
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] SRY（＋）46,XX 精巣性性分化疾患の性分化決定因子と転座発症機序の解析2015
- Author(s)
  小野裕之、中島信一、大石彰、高田史男、河村秀樹、五十嵐麻紀、深見真紀、緒方勤
- Organizer
  第118回日本小児科学会学術集会
- Place of Presentation
  大阪
- Year and Date
  2015-04-17
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 性分化疾患における診断・治療の進歩：中枢性性線機能低下症を中心に．2015
- Author(s)
  緒方勤
- Organizer
  第27回奈良小児内分泌研究会
- Place of Presentation
  奈良
- Year and Date
  2015-10-29
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] エピジェネティクスと小児内分泌疾患2015
- Author(s)
  緒方勤
- Organizer
  第20回小児内分泌専門セミナー
- Place of Presentation
  東京
- Year and Date
  2015-08-21
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 小児期発症内分泌疾患の移行期医2015
- Author(s)
  位田　　忍、井原　健二、鬼形　和道、菊池　信行、難波　範行、長谷川行洋、横谷　　進、大薗　恵一、緒方　　勤
- Organizer
  第88回日本内分泌学会学術総会
- Place of Presentation
  東京
- Year and Date
  2015-04-24
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] FGFR1遺伝子異常を認めた裂手裂足症と低ゴナド2015
- Author(s)
  大高幸之助、矢ケ崎英晃、三好　達也、長谷川行洋、長谷川奉延、三好　秀明、渥美　達也、佐藤　直子、瀬尾　美鈴、深見　真紀、緒方　　勤
- Organizer
  第88回日本内分泌学会学術総会
- Place of Presentation
  東京
- Year and Date
  2015-04-24
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 軟骨毛髪低形成症姉弟例におけるRMRP新規変異の同定2015
- Author(s)
  小野　裕之、山口　理恵、松下　理恵、藤澤　泰子、中西　俊樹、西村　　玄、緒方　　勤
- Organizer
  第88回日本内分泌学会学術総会
- Place of Presentation
  東京
- Year and Date
  2015-04-24
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] FGFR1 変異が同定された裂手裂足症に低ゴナドトロピン性性腺機能低下症を伴う 3 例2015
- Author(s)
  大高幸之助、矢ケ崎英晃、三好達也、長谷川行洋、長谷川奉延、三好秀明、渥美達也、深見真紀、緒方勤
- Organizer
  第118回日本小児科学会学術集会
- Place of Presentation
  大阪
- Year and Date
  2015-04-17
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 分子遺伝学的診断に基づく偽性副甲状腺機能低下2015
- Author(s)
  佐野伸一朗、松原　圭子、中村　明枝、深見　真紀、緒方　　勤
- Organizer
  第88回日本内分泌学会学術総会
- Place of Presentation
  東京
- Year and Date
  2015-04-24
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] Human Imprinting Disorders. Lanchoen EducationSeminar.2015
- Author(s)
  Ogata T
- Organizer
  Joint Meeting of the 11th Congress ASPR (Pediatric Academic Societies and Asian Society for Pediatric Research) and the Japan Pediatric Society 2015
- Place of Presentation
  Osaka, Japan
- Year and Date
  2015-04-16
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 日本人小児腹囲パーセンタイル曲線の作成および国際糖尿病連合基準による小児メタボリックシンドロームのスクリーニングへの応用2015
- Author(s)
  松下　理恵、磯島　　豪、高谷　竜三、佐竹栄一郎、橘田　一輝、永田　絵子、佐野伸一朗、山口　理恵、中西　俊樹、中川　祐一、大関　武彦、緒方　　勤、藤澤　泰子
- Organizer
  第88回日本内分泌学会学術総会
- Place of Presentation
  東京
- Year and Date
  2015-04-24
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] カルシウム感知受容体のシグナル伝達異常と疾患2015
- Author(s)
  藤澤　泰子、緒方　勤
- Organizer
  第88回日本内分泌学会学術総会
- Place of Presentation
  東京
- Year and Date
  2015-04-24
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] Various Imprinting Disorders Underlying Silver-Russell Syndrome-Compatible Phenotype2015
- Author(s)
  Masayo Kagami,Keiko Matsubara,Shinichiro Sano,Akie Nakamura,Seiji Mizuno,Naoki Hamajima,Atsuhiro Yanagisawa,Miyuki Hashimoto,Akira Yukote,Maki Fukami,Tsutomu Ogata
- Organizer
  ESPE BARCELONA 54th Annual Meeting
- Place of Presentation
  Barcelona
- Year and Date
  2015-10-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] Silver-Russell Syndrome without Body Asymmetry in Three Patients with Duplications of Maternally Derived Chromosome 11p15 Involving CDKN1C2015
- Author(s)
  Shinichi Nakashima,Fumiko Kato,Tomoki Kosho,Keisuke Nagasaki,Toru Kikuchi,Masayo Kagami,Maki Fukami,Tsutomu Ogata
- Organizer
  ESPE BARCELONA 54th Annual Meeting
- Place of Presentation
  Barcelona
- Year and Date
  2015-10-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] BHLHA9 を含む日本人創始者コピー数増加は四肢形成不全発症の感受性因子である2015
- Author(s)
  永田絵子、鹿野博亀、加藤芙弥子、中島信一、山口理恵、佐野伸一朗、高田修治、深見真紀、池川志郎、緒方勤
- Organizer
  第118回日本小児科学会学術集会
- Place of Presentation
  大阪
- Year and Date
  2015-04-17
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 四肢・指趾形成不全（裂手裂足症）の原因について2015
- Author(s)
  緒方勤
- Organizer
  先天性四肢障害児父母の会とHand&Foot患者会合同開催
- Place of Presentation
  東京
- Year and Date
  2015-04-11
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] ヒト性分化疾患の網羅的遺伝子変異解析2015
- Author(s)
  五十嵐麻希、今　　雅史、泉　　陽子、福井由宇子、鈴木江莉奈、和田　友香、宮戸　真美、緒方　　勤、深見　真紀
- Organizer
  第88回日本内分泌学会学術総会
- Place of Presentation
  東京
- Year and Date
  2015-04-24
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] Kagami-Ogata syndrome: a clinically recognizable imprinting disorder caused by upd(14)pat and related conditions.2015
- Author(s)
  Ogata T
- Organizer
  The 2nd European Imprinting Disorder School COST Action.
- Place of Presentation
  Guermantes, France.
- Year and Date
  2015-05-04
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] CDKN1C重複は半身低形成のないシルバーラッセル症候群サブタイプを招く2015
- Author(s)
  中島　信一、加藤芙弥子、古庄　知己、長崎　啓祐、菊池　　透、鏡　　雅代、深見　真紀、緒方　　勤
- Organizer
  第88回日本内分泌学会学術総会
- Place of Presentation
  東京
- Year and Date
  2015-04-24
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 先天性副腎ステロイド合成異常症2013
- Author(s)
  緒方勤
- Organizer
  シンポジウム：ステロイドホルモン研究Update．第86回日本内分泌学会学術集会．
- Place of Presentation
  仙台
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Genetics of Combined Pituitary Hormone Deficiency. In: Symposium, Neuroendocrinology, Novel Players in Pituitary Disorders (招待講演)2013
- Author(s)
  T. Ogata
- Organizer
  2013 Seoul International Congress of Endocrinology and Metabolism (SICEM) in conjunction with the 32nd Annual Meeting of the Korean Endocrine Society
- Place of Presentation
  Grand Hilton Seoul Hotel, Seoul, South Korea.
- Invited
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] Genetic advances in DSD (招待講演)2013
- Author(s)
  T. Ogata
- Organizer
  The Joint Summer School for Pediatric Endocrinology
- Place of Presentation
  Castello Dal Pozzo, Lake Maggiore, Italy.
- Invited
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 性分化疾患の発症機序：最新の知見2013
- Author(s)
  緒方勤
- Organizer
  日本アンドロロジー学会第32回学術大会・第19回精子形成・精巣毒性研究会共同開催学会特別講演
- Place of Presentation
  グランキューブ大阪（大阪府大阪市）
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 脳の性分化に関する最近の知見．2013
- Author(s)
  緒方勤
- Organizer
  第22回日本小児泌尿器科学会教育講演
- Place of Presentation
  東京ビックサイトTFTホール（東京都江東区）
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] Genetics of Combined Pituitary Hormone Deficiency. In: Symposium, Neuroendocrinology, Novel Players in Pituitary Disorders. 2013 Seoul International Congress of Endocrinology and Metabolism;2013
- Author(s)
  Ogata T
- Organizer
  In conjunction with the 32nd Annual Meeting of the Korean Endocrine Society
- Place of Presentation
  Seoul, South Korea
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Genetic advances in DSD.2013
- Author(s)
  Ogata T
- Organizer
  The Joint Summer School for Pediatric Endocrinology.
- Place of Presentation
  Lake Maggiore, Italy
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 生殖補助医療とインプリンティング疾患発症2013
- Author(s)
  緒方勤
- Organizer
  シンポジウム：疾患から見たARTとエピゲノム．第31回日本受精着床学会学術集会
- Place of Presentation
  別府
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] インプリンティング疾患の遺伝子診断2013
- Author(s)
  緒方勤
- Organizer
  第14染色体父性ダイソミー表現型をモデルとして．シンポジウム：単因子疾患の遺伝子診療．第20回日本遺伝子診療学会
- Place of Presentation
  浜松
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 生殖補助医療とインプリンティング疾患発症2013
- Author(s)
  緒方勤
- Organizer
  シンポジウム：疾患から見たARTとエピゲノム．第31回日本受精着床学会学術集会
- Place of Presentation
  別府
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 生殖補助医療と小児医療の接点2013
- Author(s)
  緒方勤
- Organizer
  オーバービュー．第116回日本小児科学会学術集会：生殖補助医療と小児医療の接点
- Place of Presentation
  広島
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 性とインプリンティング2013
- Author(s)
  緒方勤
- Organizer
  新学術領域研究「配偶子幹細胞制御機構」第7回領域会議特別講演
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 性分化疾患の発症機序：最新の知見2013
- Author(s)
  緒方勤
- Organizer
  日本アンドロロジー学会第32回学術大会・第19回精子形成・精巣毒性研究会共同開催学会特別講演
- Place of Presentation
  グランキューブ大阪（大阪府大阪市）
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Genetics of Combined Pituitary Hormone Deficiency. In: Symposium, Neuroendocrinology, Novel Players in Pituitary Disorders. 2013 Seoul International Congress of Endocrinology and Metabolism2013
- Author(s)
  Ogata T
- Organizer
  In conjunction with the 32nd Annual Meeting of the Korean Endocrine Society.
- Place of Presentation
  Seoul, South Korea
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] Genetic advances in DSD2013
- Author(s)
  Ogata T
- Organizer
  The Joint Summer School for Pediatric Endocrinology.
- Place of Presentation
  Lake Maggiore, Italy
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 脳の性分化に関する最近の知見2013
- Author(s)
  緒方勤
- Organizer
  第22回日本小児泌尿器科学会教育講演
- Place of Presentation
  東京ビックサイトTFTホール（東京都江東区）
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 先天性副腎ステロイド合成異常症2013
- Author(s)
  緒方勤
- Organizer
  シンポジウム：ステロイドホルモン研究Update．第86回日本内分泌学会学術集会．
- Place of Presentation
  仙台
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 生殖補助医療と小児医療の接点2013
- Author(s)
  緒方勤
- Organizer
  オーバービュー．第116回日本小児科学会学術集会：生殖補助医療と小児医療の接点
- Place of Presentation
  広島
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] インプリンティング疾患の遺伝子診断2013
- Author(s)
  緒方勤
- Organizer
  第14染色体父性ダイソミー表現型をモデルとして．シンポジウム：単因子疾患の遺伝子診療．第20回日本遺伝子診療学会
- Place of Presentation
  浜松
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 生殖補助医療と小児医療の接点：オーバービュー（招待講演）2013
- Author(s)
  緒方勤
- Organizer
  第116回日本小児科学会学術集会
- Place of Presentation
  広島市文化交流会館（広島市中区）
- Invited
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 全国多施設共同研究による日本人小児期発症 1 型糖尿病の候補 SNP 研究(第2 報)2012
- Author(s)
  綾部匡之, 緒方勤, 川村智行, 浦上達彦, 菊池信行, 雨宮伸, 杉原茂孝
- Organizer
  第55回日本糖尿病学会年次学術集会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] エピジェネティクスと小児成長発達2012
- Author(s)
  緒方勤
- Organizer
  第115回日本小児科学会学術集会教育講演
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 生殖補助医療における遺伝的安全性の検討2012
- Author(s)
  緒方勤
- Organizer
  浜松市医師会生涯教育研修会
- Place of Presentation
  浜松
- Year and Date
  2012-01-26
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] Nicotinamid Nucleotide Transhydrogenase遺伝子の新規変異が同定された糖質コルチコイド欠乏症症例.2012
- Author(s)
  山口理恵、永田絵子、藤澤泰子、長崎啓祐、緒方勤.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 46, XY性分化疾患患者における 2 番染色体長腕部分欠失の同定.2012
- Author(s)
  鈴木江莉奈、五十嵐麻希、宮戸真美、D.C. Vu、緒方勤、深見真紀.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 17q12-q21 variant is associated with early-onset type 1 diabetes2012
- Author(s)
  Ayabe T, Ogata T, Kawamura T, (他 3名)
- Organizer
  The 38th annual Meeting of the international Society for Pediatric and Adolescent Diabetes (ISPAD)
- Place of Presentation
  Istanbul, Turkey
- Year and Date
  2012-10-10
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] 大後頭孔狭窄をきたし軟骨無形成症様症状を呈した複合型下垂体前葉機能低下症の１例.2012
- Author(s)
  遠藤彰、杉江秀夫、緒方勤.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] ＭＡＭＬＤ1と尿道下裂：新規遺伝子変異および感受性ハプロタイプの同定と変異陽性患者の長期精巣機能.2012
- Author(s)
  佐野伸一朗、深見真紀、宮戸真美、上松あゆ美、長谷川奉延、佐竹栄一郎、C. Sultan、緒方勤.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 胎児期における環境化学物質と先天奇形の発症2012
- Author(s)
  緒方勤
- Organizer
  第115回日本小児科学会学術集会：子どもの健康と環境に関する全国調査（エコチル調査）と小児内分泌代謝疾患
- Place of Presentation
  福岡
- Year and Date
  2012-04-20
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 次世代遺伝子解析技術を用いた性分化疾患141例の病因解析.2012
- Author(s)
  五十嵐麻希、D.C. Vu、小島祥敬、堀川玲子、緒方勤、深見真紀.
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] インプリンティング疾患研究アップデート.2012
- Author(s)
  緒方勤.
- Organizer
  第45回新潟小児内分泌懇話会
- Place of Presentation
  新潟市(新潟県)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] ゲノム異常としての性分化疾患.2012
- Author(s)
  緒方勤.
- Organizer
  第11回熊本内分泌代謝フォーラム
- Place of Presentation
  熊本市(熊本県)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 偽性副甲状腺機能低下症la型と類似の臨床像を呈する女児に同定した新規PRKAR14変異例.2012
- Author(s)
  長崎啓祐、佐藤英利、小川洋平、菊池透、緒方勤、深見真紀.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 男性における乳房腫大(女性化乳房).2012
- Author(s)
  深見真紀、五十嵐麻希、阿部修二、山本幸代、金城さおり、緒方勤.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 遺伝性女性化乳房（アロマターゼ過剰症）を招くCYP19A1過剰発見にはNHIJ,NAHR,FoSTeSが関与する.2012
- Author(s)
  深見真紀、土屋貴義、五十嵐麻希、阿部修司、大津成之、花木啓一、神埼晋、大山建二、佐野友昭、西垣敏紀、高木博史、稲垣朱実、堀川玲子、生水真紀夫、緒方勤.
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] Ambiguous genitaliaを呈するSRY(+)46,XXDSD症例における分子細胞遺伝学的解析.2012
- Author(s)
  中島信一、大石彰、加藤芙弥子、中西俊樹、五十嵐麻希、深見真紀、緒方勤.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 性分化疾患とゲノム異常.2012
- Author(s)
  緒方勤.
- Organizer
  第15回宮崎代謝内分泌研究会
- Place of Presentation
  宮崎市(宮崎県)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] Aromatase excess syndrome as a model for genomic disorder: Identification of molecular bases and phenotypic determinants.2012
- Author(s)
  T. Ogata, M. Shozu, M. Fukami.
- Organizer
  The 7th Asia Pacific Paediatric Endocrine Society Meeting
- Place of Presentation
  Bali (Indonesia)
- Invited
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] インプリンティング疾患研究アップデート2012
- Author(s)
  緒方勤
- Organizer
  第45回新潟小児内分泌懇話会
- Place of Presentation
  新潟
- Year and Date
  2012-06-08
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 成長障害と遺伝子異常.2012
- Author(s)
  緒方勤.
- Organizer
  第11回東海小児内分泌セミナー
- Place of Presentation
  名古屋市(愛知県)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] バックドア経路：テストステロンを経由しないジヒドロテストステロン産生経路2012
- Author(s)
  緒方勤
- Organizer
  第35回日本分子生物学会学術集会ワークショップ　哺乳類の性分化・性成熟の新知見　性腺機能を制御する遺伝子ネットワークとその破綻による疾患
- Place of Presentation
  福岡
- Year and Date
  2012-12-11
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Ｈ19-ＤＭＲにメチル化異常を認めたインプリント疾患におけるＨ19-ＤＭＲの変異解析.2012
- Author(s)
  東元健、城崎幸介、八木ひとみ、古庄知己、松原圭子、山田大輔、前田寿幸、大塚泰史、古関明彦、緒方勤、副島英伸.
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 性分化疾患とゲノム異常2012
- Author(s)
  緒方勤
- Organizer
  第15回宮崎代謝内分泌研究会
- Place of Presentation
  宮崎
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 広汎性発達障害に思春期早発症を合併した女児の4例.2012
- Author(s)
  中西俊樹、藤澤泰子、佐竹栄一郎、鈴木輝彦、佐野伸一朗、松下理恵、永田絵子、山口理恵、中島信一、緒方勤.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 小児の成長と成長障害.2012
- Author(s)
  緒方勤.
- Organizer
  浜松市健康増進課研修会
- Place of Presentation
  浜松市(静岡県)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 環境ホルモン物質の子どもへの影響.2012
- Author(s)
  緒方勤.
- Organizer
  松葉のダイオキシン調査実行委員会研修会
- Place of Presentation
  生活クラブ館(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 哺乳類の性分化・性成熟の新知見：性腺機能を制御する遺伝子ネットワークとその破綻による疾患：バックドア経路：テストステロンを経由しないジヒドロテストステロン産生経路.2012
- Author(s)
  緒方勤.
- Organizer
  第35回日本分子生物学会学術集会ワークショップ
- Place of Presentation
  福岡国際会議場(福岡県)
- Invited
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] ゴナドトロピン補充療法と生殖補助医療の併用により拳児に至った中枢性性腺機能低下疾患者の一例.2012
- Author(s)
  佐藤直子、堀川玲子、勝又規行、内木康博、田中敏章、緒方勤.
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] シルバーラッセル症候群における新規責任領域の同定.2012
- Author(s)
  福家智子、鏡雅代、松原圭子、吉橋博史、長谷川行洋、沼倉周彦、室谷浩二、三善陽子、永井敏郎、長谷川奉延、田中敏章、水野誠司、緒方勤、深見真紀.
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 早期にＧＨ治療を開始した重度発達遅滞を伴うターナー症候群の１例.2012
- Author(s)
  小川玲、藤本陽子、児玉雅彦、布山正貴、塚田大樹、松橋一彦、外山大輔、池田裕一、緒方勤、磯山恵一.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 小児インスリン治療研究会遺伝素因プロジェクトメンバー1型糖尿病の出生季節性：発症時年齢とＶＤＲ遺伝子多型に関する検討.2012
- Author(s)
  綾部匡之、深見真紀、緒方勤、雨宮伸、杉原茂孝.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 15番染色体母性方親性ダイソミーを伴うtetrasomy15q症例の分子遺伝学的解析.2012
- Author(s)
  松原圭子、柳田かえで、福家智子、鏡雅代、永井敏郎、緒方勤、深見真紀.
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 14番染色体インプリティング領域メチル化制御機構の解明：ＭＥＧ３-ＤＭＲエピ変異症例の解析から.2012
- Author(s)
  鏡雅代、古庄知己、中林一彦、松岡健太郎、松原圭子、福家智子、深見真紀、緒方勤.
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] NPR2ヘテロ接合性変異は突発性および家族性低身長症の原因となりうる.2012
- Author(s)
  天野直子、向井徳男、伊藤義也、鳴海覚志、田中敏章、横谷進、緒方勤、長谷川奉延.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 小児インスリン治療研究会遺伝素因プロジェクトメンバー,小児 1 型糖尿病(1A型)の同胞発症率と同胞における遺伝素因の解析2012
- Author(s)
  竹本幸司, 杉原茂孝, 緒方勤, 雨宮伸
- Organizer
  第55回日本糖尿病学会年次学術集会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] 全ゲノム片親性ダイソミー症例のＤＮＡメチル化解析によるヒトインプリントーム解明.2012
- Author(s)
  中林一彦、田中千春、A.M. Trujillo、岡村浩司、緒方勤、福島英伸、D. Monk、秦健一郎.
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] DNA methylation analysis of reciprocal genome-wide UPDs to define imprinted differentially methylated regions in the human genome.2012
- Author(s)
  K. Nakabayashi, A.M. Trujillo, C. Tayama, M. Kagami, H. Soejima, T. Ogata, D. Monk, K. Hata.
- Organizer
  American society of human genetics 62nd annual meeting
- Place of Presentation
  Florence (Italy)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 環境ホルモン物質の子どもへの影響2012
- Author(s)
  緒方勤
- Organizer
  松葉のダイオキシン調査実行委員会研修会
- Place of Presentation
  東京
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] プラダーウィリ症候群の出生季節性.2012
- Author(s)
  綾部匡之、松原圭子、深見真紀、緒方勤、村上信行、永井敏郎.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 性分化疾患の基礎と臨床2012
- Author(s)
  緒方勤
- Organizer
  第58回愛媛県小児科医会特別講演
- Place of Presentation
  松山
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] ＩＭＡＧｅ症候群におけるＣＤＫＮ１Ｃ遺伝解析.2012
- Author(s)
  加藤芙弥子、天野直子、永田絵子、中西俊樹、堀川玲子、澤田浩武、福家智子、深見真紀、長谷川奉延、緒方勤.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 次世代解析技術を用いた性分化疾患141症例の病因解析.2012
- Author(s)
  五十嵐麻希、D.C. Vu、小島祥敬、堀川玲子、緒方勤、深見真紀.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 小児内分泌関連疾患におけるインプリンティングにかかわる最近の話題2012
- Author(s)
  緒方勤
- Organizer
  JCR研修会
- Place of Presentation
  芦屋
- Year and Date
  2012-02-17
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 胎児期における環境化学物質と先天奇形の発症.2012
- Author(s)
  緒方勤.
- Organizer
  第115回日本小児科学会学術集会：子どもの健康と環境に関する全国調査（エコチル調査）と小児内分泌代謝疾患
- Place of Presentation
  福岡国際会議場(福岡県)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] Genetics of DSD (Disorders of sex development).2012
- Author(s)
  Ogata T
- Organizer
  Disorders of sex development. The 15th International and 14th European Congress of Endocrinology (ICE/ECE).
- Place of Presentation
  Florence, Italy.
- Year and Date
  2012-05-05
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Cytochrome P450 Oxidoreductase Deficiency: A Unique Disease Leading to Disorders of Sex Development in Both 46,XY and 46,XX Patients. Invited Lecture.2012
- Author(s)
  Ogata T
- Organizer
  The 6th International Symposium on the Biology of Vertebrate Sex Determination.
- Place of Presentation
  Kona Hawaii, USA.
- Year and Date
  2012-04-23
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 17q12-q21 染色体領域の多型は, 喘息だけでなく 1 型糖尿病の幼児期発症とも関連する2012
- Author(s)
  綾部匡之, 緒方勤, 雨宮伸, 杉原茂孝
- Organizer
  第115回日本小児科学会学術集会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] ホルモン抵抗性を伴うAcrodysostosisの女児における新規PRKAR1A変異の同定と機能解析.2012
- Author(s)
  長崎啓祐、深見真紀、緒方勤.
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] シルバーラッセル症候群の新規責任領域の同定.2012
- Author(s)
  福家智子、松原圭子、鏡雅代、長谷川行洋、永井敏郎、長谷川奉延、水野誠司、緒方勤、深見真紀.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] ヌーナン症候群とからだの成長.2012
- Author(s)
  緒方勤.
- Organizer
  厚生労働科研費ヌーナン症候群シンポジウム
- Place of Presentation
  東京国際フォーラム(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] インプリンティング疾患研究アップデート2012
- Author(s)
  緒方勤
- Organizer
  第45回新潟小児内分泌懇話会．
- Place of Presentation
  新潟
- Invited
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 雌性生殖器官におけるＭａｍｌｄ１の役割.2012
- Author(s)
  宮戸真美、宮戸健二、緒方勤、深見真紀.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] ゲノムインプリンティングと個体・胎盤成長発達2012
- Author(s)
  緒方勤
- Organizer
  第42回九州小児内分泌懇話会
- Place of Presentation
  福岡
- Year and Date
  2012-02-04
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] Cytochrome P450 oxidoreductase deficiency: A unique disease leading to disorders of sex development in both 46,XY and 46,XX patients.2012
- Author(s)
  T. Ogata.
- Organizer
  The 6th International Symposium on the Biology of Vertebrate Sex Determination
- Place of Presentation
  Kona (USA)
- Invited
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] エピジェネティクスと小児成長発達．2012
- Author(s)
  緒方勤
- Organizer
  第115回日本小児科学会学術集会教育講演
- Place of Presentation
  福岡
- Invited
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 哺乳類の性分化・性成熟の新知見：性腺機能を制御する遺伝子ネットワークとその破綻による疾患：バックドア経路：テストステロンを経由しないジヒドロテストステロン産生経路2012
- Author(s)
  緒方　勤
- Organizer
  第35回日本分子生物学会学術集会ワークショップ
- Place of Presentation
  福岡
- Year and Date
  2012-12-11
- Invited
- Data Source
  KAKENHI-ORGANIZER-22132001
[Presentation] Aromatase Excess Syndrome as a Model for Genomic Disorder: Identification of Molecular Bases and Phenotypic Determinants.2012
- Author(s)
  Ogata T, Shozu M, Fukami M
- Organizer
  Kaichi Kida Session. The 7th Asia Pacific Paediatric Endocrine Society Meeting.
- Place of Presentation
  Bali, Indonesia.
- Year and Date
  2012-11-14
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] プラダーウィリ症候群の出生季節性.2012
- Author(s)
  綾部匡之、松原圭子、深見真紀、緒方勤、村上信行、永井敏郎.
- Organizer
  第57回日本人類遺伝学会
- Place of Presentation
  京王プラザホテル(東京都)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 入院管理中に書字障害にはじめて気付いた12歳の肥満男児例―行動療法における問題点.2012
- Author(s)
  佐竹栄一郎、中川祐一、内山弘基、松下理恵、藤澤泰子、永田絵子、中島信一、緒方勤.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 経時的にコルチゾール分泌能が低下したＰＯＲ異常症の一例.2012
- Author(s)
  沼倉周彦、北中幸子、本間桂子、深見真紀、長谷川奉延、緒方勤、早坂清.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 性の分化・発達と小児医療2012
- Author(s)
  緒方勤
- Organizer
  第188回浜松市小児科医会研究会
- Place of Presentation
  浜松
- Year and Date
  2012-03-07
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 14染色体母親性ダイソミーおよび類縁疾患に関する全国調査：遺伝学的頻度および臨床像.2012
- Author(s)
  鏡雅代、長崎啓祐、佐藤英利、鹿島京子、佐藤亨、中村明枝、加藤光弘、沼倉周彦、緒方勤、深見真紀、斎藤伸治.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] ゴナドトロピン補充療法と生殖補助医療の併用により拳児に至った中枢性性腺機能低下疾患者の一例.2012
- Author(s)
  佐藤直子、堀川玲子、内木康弘、田中敏章、勝又規行、緒方勤.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] Catch upのないIUGRモデルラットにおける脂肪量とアディポサイトカインの変化について.2012
- Author(s)
  橘田一輝、中西俊樹、永田絵子、山口理恵、中川祐一、大関武彦、石井正浩、緒方勤.
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 先天奇形症候群とゲノムインプリンティング2011
- Author(s)
  緒方勤
- Organizer
  第2回生殖医療研究会
- Place of Presentation
  東京
- Year and Date
  2011-11-05
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 第14染色体父性ダイソミー症候群の発症機序と出生前診断2011
- Author(s)
  緒方勤
- Organizer
  第18回遺伝性疾患に関する出生前診断研究会学術集会
- Place of Presentation
  佐賀
- Year and Date
  2011-10-01
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 子どもの成長と成熟2011
- Author(s)
  緒方勤
- Organizer
  国際医療福祉大学熱海病院学術講演会
- Place of Presentation
  熱海
- Year and Date
  2011-07-01
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] Genetic susceptibility to endocrine disrupters: Estrogen receptor polymorphisms2011
- Author(s)
  Ogata T
- Organizer
  Hamamatsu DOHaD Conference
- Place of Presentation
  Hamamatsu, Japan
- Year and Date
  2011-07-08
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 性分化疾患の臨床像と新規遺伝子MAMLD1の同定2011
- Author(s)
  緒方勤
- Organizer
  第28回日本医学会総会シンポジウム:内分泌疾患-病態解明と治療の進歩
- Place of Presentation
  東京(東日本大震災のためDVD収録で配布)
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 子どもを取り巻く環境と小児の健康2011
- Author(s)
  緒方勤
- Organizer
  第40回Medical Photonics Seminar
- Place of Presentation
  浜松
- Year and Date
  2011-10-14
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 小児1型糖尿病(1A 型)の同胞発症率と同胞における遺伝素因の解析2011
- Author(s)
  竹本幸司, 杉原茂孝, 緒方勤, 雨宮伸
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] 全国多施設共同研究による日本人小児期発症 1 型糖尿病およびその家族の HLA 遺伝子解析2011
- Author(s)
  杉原茂孝, 緒方勤, 川村智行, 浦上達彦, 菊池信行, 佐治博夫, 徳永勝士, 雨宮伸
- Organizer
  第54回日本糖尿病学会年次学術集会
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] 子どもを取り巻く環境と健康2011
- Author(s)
  緒方勤
- Organizer
  浜松小児科医会
- Place of Presentation
  浜松
- Year and Date
  2011-07-27
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 乳幼児期および思春期の性について2011
- Author(s)
  緒方勤
- Organizer
  第1回乳幼児発達指導研究会
- Place of Presentation
  浜松
- Year and Date
  2011-07-25
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] SHOX遺伝子異常症2011
- Author(s)
  緒方勤
- Organizer
  Update.Forum on Turner syndrome in Osaka
- Place of Presentation
  大阪
- Year and Date
  2011-07-23
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Genetic susceptibility to endocrine disrupters : Estrogen receptor polymorphisms2011
- Author(s)
  Ogata T
- Organizer
  In : Hamamatsu DOHaD Conference
- Place of Presentation
  Hamamatsu, Japan
- Year and Date
  2011-07-08
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 性分化疾患研究の進歩2011
- Author(s)
  緒方勤
- Organizer
  第81回京都内分泌同好会
- Place of Presentation
  京都
- Year and Date
  2011-09-03
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 性分化疾患における最近の臨床的・分子遺伝学的進歩2011
- Author(s)
  緒方勤
- Organizer
  10th Asahikawa Winter Conference on Molecular Medicine
- Place of Presentation
  北海道(招待講演)
- Year and Date
  2011-01-30
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 性分化疾患の分子基盤2011
- Author(s)
  緒方勤
- Organizer
  第3回岐阜小児内分泌学術講演会
- Place of Presentation
  岐阜
- Year and Date
  2011-09-15
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 親由来特異的遺伝子発現制御:ヒトインプリンティング疾患解析研究から2011
- Author(s)
  緒方勤
- Organizer
  第3回性差生物医学研究会
- Place of Presentation
  福岡
- Year and Date
  2011-01-16
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 全国多施設共同研究による日本人小児期発症 1 型糖尿病の候補 SNP 研究2011
- Author(s)
  綾部匡之, 緒方勤, 川村智行, 浦上達彦, 菊池信行, 雨宮伸, 杉原茂孝
- Organizer
  第54回日本糖尿病学会年次学術集会.
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] 中枢性性線機能低下症の基礎と臨床2011
- Author(s)
  緒方勤
- Organizer
  静岡産科婦人科学会春季学術集会
- Place of Presentation
  静岡
- Year and Date
  2011-06-05
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] ターナー症候群を招く分子基盤2011
- Author(s)
  緒方勤
- Organizer
  日本人類遺伝学会第56回大会共催セミナー
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Disorders of Sex Development : Recent Progress. Plenary Lecture2011
- Author(s)
  Ogata T
- Organizer
  In : The 13th European Congress of Endocrinology (ECE 2011)
- Place of Presentation
  Rotterdam Netherlands
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 性分化疾患の分子基盤と臨床的対応2011
- Author(s)
  緒方勤
- Organizer
  第117回日本小児科学会甲信地方会
- Place of Presentation
  甲府
- Year and Date
  2011-11-20
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 生殖補助医療におけるインプリンティング疾患発症について2011
- Author(s)
  緒方勤
- Organizer
  第18回セント・ルカセミナー
- Place of Presentation
  大分
- Year and Date
  2011-06-19
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 生殖補助医療における遺伝的安全性の検討:インプリンティング疾患を主として2011
- Author(s)
  緒方勤
- Organizer
  第14回日本IVF学会基礎教育講演
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 性ホルモン産生異常と性分化2011
- Author(s)
  緒方勤
- Organizer
  第84回日本内分泌学会学術総会教育講演
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] ART in reproductive disorders2011
- Author(s)
  Ogata T
- Organizer
  FIGO Workshp
- Place of Presentation
  Tokyo, Japan
- Year and Date
  2011-12-08
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 脳の性分化に関する最近の知見2011
- Author(s)
  緒方勤
- Organizer
  第84回日本内分泌学会学術総会シンポジウム:性分化疾患の診断・治療戦略
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Genetic susceptibility to endocrine disrupters : Estrogen receptor polymorphisms2011
- Author(s)
 Ogata T
- Organizer
 Plenary Lecture. In : 6^<th> Copenhagen Workshop on Endocrine Disrupters (COW 2011)
- Place of Presentation
 Copenhagen, Denmark
- Data Source
 KAKENHI-PLANNED-22132004
[Presentation] シルバーラッセル症候群の分子遺伝的メカニズム2011
- Author(s)
  緒方勤
- Organizer
  第84回日本内分泌学会学術総会ミニシンポジウム:SGA性低身長をめぐって
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 性分化疾患の分子基盤:update2011
- Author(s)
  緒方勤
- Organizer
  第12回山陰内分泌研究会
- Place of Presentation
  米子
- Year and Date
  2011-09-16
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 子どもの成長と成熟2011
- Author(s)
  緒方勤
- Organizer
  国際医療福祉大学熱海病院学術講演会
- Place of Presentation
  熱海
- Year and Date
  2011-07-01
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] ヌーナン症候群とGH治療2011
- Author(s)
  緒方勤
- Organizer
  ヌーナン症候群勉強会
- Place of Presentation
  東京
- Year and Date
  2011-08-27
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] SGA性低身長症の発症機序:インプリンティング疾患を主として2011
- Author(s)
  緒方勤
- Organizer
  第134回臨床小児研究会
- Place of Presentation
  越谷
- Year and Date
  2011-02-14
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] ORMDL3-GSDMB 遺伝子領域のSNP (rs2290400) は幼児期発症 1 型糖尿病と関連する2011
- Author(s)
  綾部匡之, 緒方勤, 雨宮伸, 杉原茂孝
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] 胎児・胎盤発育とゲノムインプリンティング2011
- Author(s)
  緒方勤
- Organizer
  第5回新生児内分泌研究会学術集会
- Place of Presentation
  東京
- Year and Date
  2011-09-17
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 生殖補助医療におけるインプリンティング疾患発症リスクについて2011
- Author(s)
  緒方勤
- Organizer
  第56回日本生殖医学会総会教育講演:生殖医療の新たな展開-最終成果について考える
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] ART in reproductive disorders. FIGO Workshp2011
- Author(s)
  Ogata T
- Organizer
  FIGO Workshp
- Place of Presentation
  Tokyo, Japan
- Year and Date
  2011-12-08
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] ターナー症候群を招く分子基盤2011
- Author(s)
  緒方勤
- Organizer
  第7回北関東遺伝診療フォーラム
- Place of Presentation
  大宮
- Year and Date
  2011-12-09
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 小児成長発達とゲノムインプリンティング2011
- Author(s)
  緒方勤
- Organizer
  第114回日本小児科学会学術集会特別講演
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 生殖補助医療におけるインプリンティング疾患発症リスクについて2011
- Author(s)
  緒方勤
- Organizer
  第56回日本生殖医学会総会:生殖医療の新たな展開-最終成果について考える
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 性分化疾患の発症機序2011
- Author(s)
  緒方勤
- Organizer
  第56回日本未熟児新生児学会学術集会:性分化疾患の新生児期管理
- Place of Presentation
  東京
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe , Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata
- Organizer
  International Snmposium on Pediatric Endocrinology
- Place of Presentation
  Tokyo
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] RTL1 plays a key role in human placental development.2010
- Author(s)
  Masayo Kagami, Kentaro Matsuoka, Keiko Matsubara, Tomoko Sato, Michiko Yamanaka, Nobuhiro Suzumori, Tsutomu Ogata.
- Organizer
  International Symposium on Epigenome Network , Development and Reprograming of Germ Cells
- Place of Presentation
  Fukuoka
- Year and Date
  2010-11-22
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] ステロイドホルモン産生におけるMamld1の機能解析2010
- Author(s)
  宮戸真美, 中村美智子, 深見真紀, 宮戸健二, 緒方勤
- Organizer
  第44回日本小児内分泌学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-20390265
[Presentation] Impaired expression of Mamld1 disturbs the gene expression of steroidogenic enzymes.2010
- Author(s)
  宮戸真美, 中村美智子, 深見真紀, 宮戸健二, 緒方勤
- Organizer
  第33回日本分子生物学会
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PROJECT-20390265
[Presentation] Genetic causes of POF2010
- Author(s)
  T.Ogata
- Organizer
  FertiLink and International Ovarian Conferencce
- Place of Presentation
  Kyoto, Japan(招待講演)
- Year and Date
  2010-10-16
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] Prader-Willi Syndrome:Recent Progress. Invited Special Lecture2010
- Author(s)
  Ogata T
- Organizer
  The 8th Korean PWS (Prader-Willi syndrome) Symposium
- Place of Presentation
  Seoul, Korea.
- Year and Date
  2010-10-02
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] インプリンティング疾患の基礎と臨床2010
- Author(s)
  緒方勤
- Organizer
  両毛地区小児科講演会
- Place of Presentation
  足利
- Year and Date
  2010-01-18
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] Molecular and clinical analysis in Silver-Russell syndrome. In: Genetic Diagnosis and Treatment of SGA Short Children2010
- Author(s)
  Yamazawa K, Ogata T
- Organizer
  The 14th International Congress of Endocrinology
- Place of Presentation
  Kyoto, Japan
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] Prader-Willi Syndrome : Recent Progress.Invited Special Lecture.2010
- Author(s)
  Ogata T
- Organizer
  The 8th Korean PWS (Prader-Willi syndrome) Symposium
- Place of Presentation
  Seoul, Korea
- Year and Date
  2010-10-02
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] Kallmann syndrome : a one amino-acid insertion mutation of the fibroblast growth factor receptor 1 (FGFR1) acid box may affect neuronal extension in an FGF-dependent manner2010
- Author(s)
  Sato N, Ogata T, 他
- Organizer
  The 14th International Congress of Endocrinology
- Place of Presentation
  Kyoto, Japan
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
 Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata.
- Organizer
 14^<th> International Congress of Endocrinology
- Place of Presentation
 Kyoto
- Year and Date
 2010-03-29
- Data Source
 KAKENHI-PROJECT-20390101
[Presentation] ヒトインプリンティング疾患の発症機序2010
- Author(s)
  緒方勤
- Organizer
  第4回日本エピジェネティクス研究会大会
- Place of Presentation
  米子
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 全国多施設共同研究による日本人小児期発症1型糖尿病およびその家族のHLA-DRB1,DQB1,DPB1遺伝子解析2010
- Author(s)
  杉原茂孝, 緒方勤, 川村智行, 他
- Organizer
  第44回日本糖小児内分泌学会学術集会
- Place of Presentation
  大阪市
- Year and Date
  2010-10-08
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] ヒト14q32.2のインプリンティング領域において、IG-DMRとMEG3-DMRは異なった役割をはたす2010
- Author(s)
  鏡雅代、高田修治、加藤芙弥子、Anne C Ferguson-Smith、緒方勤
- Organizer
  第4回エピジェネティクス研究会
- Place of Presentation
  鳥取
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata
- Organizer
  14th International Congress of Endocrinology
- Place of Presentation
  Kyoto
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers2010
- Author(s)
  Masayo Kagami, Maureen J O' Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Nobuhide Masawa, Kentarou Matsuoka, Maki Fukami, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata.
- Organizer
  International Symposium on Epigenome Network , Development and Reprograming of Germ Cells
- Place of Presentation
  Fukuoka
- Year and Date
  2010-11-23
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] OTX2 and Hypopituitarism2010
- Author(s)
  S.Dateki, M.Fukami, T.Ogata
- Organizer
  The International Symposium on Pediatric Endocrinology
- Place of Presentation
  Tokyo, Japan(招待講演)
- Year and Date
  2010-04-01
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] SGA性低身長症の発症機序:インプリンティング疾患を主として2010
- Author(s)
  緒方勤
- Organizer
  日本人類遺伝学会第55回大会共催セミナー
- Place of Presentation
  埼玉(招待講演)
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] Hypothalamic Dysfunction in a Female with Isolated Hypogonadotropic Hypogonadism and Compound Heterozygous TACR3 Mutations and Clinical Manifestation in Her Heterozygous Mother.2010
- Author(s)
  Fukami M, Maruyama T, Dateki S, Sato N, Yoshimura Y, Ogata T
- Organizer
  The 14th International Congress of Endocrinology
- Place of Presentation
  Kyoto
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] ヒトインプリンティング疾患の発症機序2010
- Author(s)
  緒方勤
- Organizer
  第4回日本エピジェネティクス研究会大会学術集会
- Place of Presentation
  米子
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] SGA性低身長症の発症機序:インプリンティング疾患を主として2010
- Author(s)
  緒方勤
- Organizer
  SGA性低身長症の発症機序:インプリンティング疾患を主として
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] Prader-Willi Syndrome : Recent Progress2010
- Author(s)
  T.Ogata
- Organizer
  The 8th Korean PWS (Prader-Willi syndrome) Symposium
- Place of Presentation
  Seoul, Korea(招待講演)
- Year and Date
  2010-10-02
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] Impaired expression of Mamld1 disturbs the gene expression of steroidogenic enzyme and feeding regulation.2010
- Author(s)
  Miyado M, Nakamura M, Fukami M, Miyado K, Ogata T
- Organizer
  The 14th International Congress of Endocrinology
- Place of Presentation
  Kyoto
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] 全国多施設共同研究による日本人小児期発症 1 型糖尿病およびその家族の HLA-DRB1, DQB1, DPB1 遺伝子解析2010
- Author(s)
  杉原茂孝, 緒方勤, 川村智行, (他36名)
- Organizer
  第44回日本小児内分泌学会学術集会
- Place of Presentation
  大阪
- Year and Date
  2010-10-07
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] 性分化疾患の発症機序:遺伝-環境相互作用の観点から2010
- Author(s)
  緒方勤
- Organizer
  第249回日本小児科学会東海地方会特別講演
- Place of Presentation
  名古屋
- Year and Date
  2010-05-16
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Genetic causes of POF2010
- Author(s)
  Ogata T
- Organizer
  October 16-17, 2010. Kyoto, Japan
- Place of Presentation
  Kyoto, Japan.
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] ヒト14q32.2のインプリンティング領域においてIG-DMRとMEG3-DMRは異なった役割をはたす2010
- Author(s)
  鏡雅代、高田修治、加藤芙弥子、Anne C Ferguson-Smith、緒方勤
- Organizer
  第4回エピジェネティクス研究会
- Place of Presentation
  鳥取
- Year and Date
  2010-05-29
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] エコチル調査における遺伝医学研究2010
- Author(s)
  緒方勤
- Organizer
  日本人類遺伝学会第55回大会シンポジウム:小児環境疫学(エコチル)調査と遺伝医学
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 性分化疾患研究の最前線2010
- Author(s)
  緒方勤
- Organizer
  日本アンドロロジー学会第29回学術大会・第16回精子形成・精巣毒性研究会共同開催学会特別講演
- Place of Presentation
  東京
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] ヒトインプリンティング疾患の発症機序2010
- Author(s)
  緒方勤
- Organizer
  第4回日本エピジェネティクス研究会大会
- Place of Presentation
  鳥取(招待講演)
- Year and Date
  2010-05-27
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] インプリンティング異常と胎盤2010
- Author(s)
  松岡健太郎, 中澤温, 林聡, 左合治彦, 鏡雅代, 緒方勤
- Organizer
  第18回日本胎盤学会学術集会(第28回日本絨毛性疾患研究会と併催)ワークショップ
- Place of Presentation
  熊本基調講演
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] RTL1 plays a key role in human placental development. International Symposium on Epigenome Network2010
- Author(s)
  Masayo Kagami, Kentaro Matsuoka, Keiko Matsubara, Tomoko Sato, Michiko Yamanaka, Nobuhiro Suzumori, Tsutomu Ogata
- Organizer
  Development and Reprograming of Germ Cells
- Place of Presentation
  Fukuoka
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 14番染色体父親性ダイソミー症候群の病因別頻度の解明2010
- Author(s)
  鏡雅代、加藤芙弥子、松原圭子、佐藤智子、緒方勤
- Organizer
  第55回日本人類遺伝学会学術集会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Mamld1は,マウスライデイッヒ腫瘍細胞において,ステロイド合成酵素遺伝子の発現調節を介し,テストステロン産生に関わっている2010
- Author(s)
  中村美智子, 深見真紀, 宮戸真美, 須川史啓, 緒方勤, 野々村克也
- Organizer
  第19回日本小児泌尿器科学会
- Place of Presentation
  札幌
- Data Source
  KAKENHI-PROJECT-20390265
[Presentation] 生殖補助医療とインプリンティング異常2010
- Author(s)
  緒方勤
- Organizer
  日本人類遺伝学会第55回大会シンポジウム
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 14番染色体インプリンティング遺伝子の胎盤における機能の解明2010
- Author(s)
  鏡雅代、加藤芙弥子、宮戸真美、高田修治、松岡健太郎、山中美智子、金子さおり、松原圭子、佐藤智子、緒方勤
- Organizer
  第44回日本小児内分泌学会学術集会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] エコチル調査における遺伝医学研究2010
- Author(s)
  緒方勤
- Organizer
  日本人類遺伝学会第55回大会シンポジウム:小児環境疫学(エコチル)調査と遺伝医学
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 性分化疾患研究の最前線2010
- Author(s)
  緒方勤
- Organizer
  日本アンドロロジー学会第29回学術大会・第16回精子形成・精巣毒性研究会共同開催学会特別講演
- Place of Presentation
  東京(招待講演)
- Year and Date
  2010-07-30
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] Endocrine Disruptors-the environment and its impact on paediatric endocrinology2010
- Author(s)
  T.Ogata
- Organizer
  The 6th Bienniel Scientific Meeting of The Asia Pacific Paediatric Endocrinoly
- Place of Presentation
  Xi'an, China(招待講演)
- Year and Date
  2010-11-18
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] Endocrine Disruptors-the environment and its impact on paediatric endocrinology2010
- Author(s)
 Ogata T
- Organizer
 The 6^<th> Bienniel Scientific Meeting of The Asia Pacific Paediatric Endocrinolgy
- Place of Presentation
 Xi'an, China
- Data Source
 KAKENHI-PLANNED-22132004
[Presentation] Association between MAMLD1 and Steroid Hormone Production.2010
- Author(s)
  Nakamura M, Miyado M, Sugawa F, Kato F, Fukami M, Ogata T
- Organizer
  The 14th International Congress of Endocrinology
- Place of Presentation
  Kyoto
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] 身長を規定する遺伝子・ゲノム2010
- Author(s)
  緒方勤
- Organizer
  第83回日本内分泌学会学術総会教育講演
- Place of Presentation
  京都
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] SGA性低身長症の発症機序 : インプリンティング疾患を主として2010
- Author(s)
  緒方勤
- Organizer
  日本人類遺伝学会第55回大会共催セミナー
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] 全国多施設共同研究による日本人小児1型糖尿病およびその家族のHLA遺伝子解析2010
- Author(s)
  杉原茂孝, 緒方勤, 川村智行, 他
- Organizer
  第8回 1型糖尿病研究会
- Place of Presentation
  長崎市
- Year and Date
  2010-10-10
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] インプリンティング異常と胎盤2010
- Author(s)
  松岡健太郎,中澤温,林聡,左合治彦,鏡雅代,緒方勤
- Organizer
  第18回日本胎盤学会学術集会(第28回日本絨毛性疾患研究会と併催)ワークショップ基調講演:Placental Mesenchymal Dysplasia (PMD)とBeckwith-Wiedemann syndrome (BMD)
- Place of Presentation
  熊本
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] エコチル調査における遺伝医学研究2010
- Author(s)
  緒方勤
- Organizer
  日本人類遺伝学会第55回大会シンポジウム:小児環境疫学(エコチル)調査と遺伝医学
- Place of Presentation
  埼玉(招待講演)
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 胎児成長発達とゲノムインプリンティング2010
- Author(s)
  緒方勤
- Organizer
  第13回胎児遺伝子診断研究会
- Place of Presentation
  東京
- Year and Date
  2010-02-20
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] Cytochrome P450 oxidoreductase deficiency : identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.2010
- Author(s)
  Fukami M, Nishimura G, Homma K, Hasegawa T, Fujieda K, Ogata T
- Organizer
  The 2nd World Conference : Hormonal and Genetic Basis for DSD and Hot Topics in Endocrinology.
- Place of Presentation
  Miami, USA
- Data Source
  KAKENHI-PROJECT-20390265
[Presentation] 生殖補助医療とインプリンティング異常2010
- Author(s)
  緒方勤
- Organizer
  日本人類遺伝学会第55回大会シンポジウム
- Place of Presentation
  埼玉(招待講演)
- Year and Date
  2010-10-30
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] The first nationwide multicenter study on the HLA-DRB1, DQB1, DPB1 genotype in Japanese type 1 diabetes children and their families2010
- Author(s)
  Sugihara S, Ogata T, Kawamura T, (他36名)
- Organizer
  The 36th annual Meeting of the international Society for Pediatric and Adolescent Diabetes (ISPAD)
- Place of Presentation
  Buenos Aires, Argentina
- Year and Date
  2010-10-30
- Data Source
  KAKENHI-PROJECT-22591140
[Presentation] 生殖補助医療とインプリティグ異常2010
- Author(s)
  緒方勤
- Organizer
  日本人類遺伝学会第55回大会シンポジウム:臨床遺伝学のプロフェッショナルは、生殖補助医療-とくに着床前診断-にどうかかわればよいのか?
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers, International Symposium on Epigenome Network2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Nobuhide Masawa, Kentarou Matsuoka, Maki Fukami, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata
- Organizer
  Development and Reprograming of Germ Cells
- Place of Presentation
  Fukuoka
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 性分化疾患の発症機序:遺伝-環境相互作用の観点から2010
- Author(s)
  緒方勤
- Organizer
  第249回日本小児科学会東海地方会特別講演
- Place of Presentation
  愛知(招待講演)
- Year and Date
  2010-05-16
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] Molecular and clinical analysis in Silver-Russell syndrome.In : Genetic Diagnosis and Treatment of SGA Short Children2010
- Author(s)
  Yamazawa K, Ogata T
- Organizer
  The 14th International Congress of Endocrinology
- Place of Presentation
  Kyoto, Japan
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] MAMLD1 mutations and impaired testosterone production : phenotypic analysis of mutation-positive patients and knockout mice and in vitro functional assays.2010
- Author(s)
  Fukami M, Wada Y, Nakamura M, Miyado M, Ogata T.
- Organizer
  The 49th Annual Meeting of European Society for Paediatric Endocrinology
- Place of Presentation
  Prague
- Data Source
  KAKENHI-PROJECT-20390265
[Presentation] MAMLD1遺伝子におけるスプライス部位変異(IVS4-2A>G)の検討2009
- Author(s)
  和田友香, 深見真紀, 須川史啓, 宮戸真美, 緒方勤
- Organizer
  第112回日本小児科学会学術集会
- Place of Presentation
  奈良
- Data Source
  KAKENHI-PROJECT-20390265
[Presentation] 14番染色体インプリンティング遺伝子群の調節において, IG-DMRとMEG3-DMRは異なった役割を果たす2009
- Author(s)
  鏡雅代、高田修治、加藤芙弥子、Anne C Ferguson-Smith、緒方勤
- Organizer
  第54回日本人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] MAMLD1異常症:新規遺伝子変異の同定と変異陽性患者の表現型2009
- Author(s)
  加藤芙弥子, 深見真紀, 和田友香, マイラブランダオ, 中村美智子, 上松あゆみ, 長谷川奉延, 宮戸真美, 緒方勤
- Organizer
  第43回日本小児内分泌学会
- Place of Presentation
  宇都宮
- Data Source
  KAKENHI-PROJECT-20390265
[Presentation] 低ゴナドトロピン性性腺機能低下症女性におけるTachykinin受容体3変異の同定と臨床像の解析2009
- Author(s)
  深見真紀, 丸山哲夫, 伊達木澄人, 佐藤直子, 堀川玲子, 緒方勤
- Organizer
  第43回日本小児内分泌学会
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] 中枢性性腺機能異常症の鑑別診断2009
- Author(s)
  緒方勤
- Organizer
  第82回日本内分泌学会教育講演
- Place of Presentation
  前橋
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] A Novel Gain of function Mutation in the MAMLD1 gene in patients with Undetermined 46, XY Disorders of Sex Development.2009
- Author(s)
  Brandao MP, Fukami M, Mendonca BB, Gerdulo M, Domenice S, Arnhold IJP, Ogata T, Costa EMF
- Organizer
  The Endocrine Society's 91st Annual Meeting
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] A gain of function mutation in the MAMLD1 discloses a new pathway in the etiology of 46, XY disorders of sex development.2009
- Author(s)
  Brandao MP, Fukami Mendonca BB, Santos MG, Domenice S, Arnold IJP, Ogata T, Costa EMF
- Organizer
  The 8th Joint meeting, ESPE-LWPES in association with APEG, APPES, SLEP, JSPE
- Place of Presentation
  New York
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2009
- Author(s)
  Masayo Kagami, Shuji Takada, Maki Fukami, Kazuki Yamazaw, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata
- Organizer
  第32回日本分子生物学会年会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Mamld1発現異常が引き起こすホルモン産生と摂食調節の解析2009
- Author(s)
  宮戸真美, 中村美智子, 深見真紀, 宮戸健二, 菊水健史, 小川佳宏, 緒方勤
- Organizer
  第32回日本分子生物学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20390265
[Presentation] MAMLD1 Homozygous gain-of-function missense mutation causing 46, XX disorder of sex development in a virilized female.2009
- Author(s)
  Brandao MP, Costa EMF, Fukami M, Santos MG, Pereira NP, Domenice S, Ogata T, Mendonca BB
- Organizer
  The 8th Joint meeting, ESPE-LWPES in association with APEG, APPES, SLEP, JSPE
- Place of Presentation
  New York
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] 14番染色体インプリンティング遺伝子群の調節において, IG-DMRとMEG3-DMRは異なった役割をはたす2009
- Author(s)
  鏡雅代、高田修治、加藤芙弥子、Anne C Ferguson-Smith、緒方勤
- Organizer
  第3回日本エピジェネティクス研究会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Gentic causes of hypospadias2009
- Author(s)
  Ogata T
- Organizer
  The 8th Joint meeting, ESPE-LWPES in association with APEG, APPES, SLEP, JSPE
- Place of Presentation
  New York
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] Silver-Russell症候群を呈する雌性単為生殖キメラおよびBeckwith-Wiedemann症候群を呈する雄性単為生殖キメラ2009
- Author(s)
  山澤一樹,鏡雅代,松原圭子,中林一彦,秦健一郎,肥塚直美,堀川玲子,緒方勤
- Organizer
  第32回日本小児遺伝学会
- Place of Presentation
  奈良
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] MAMLD1遺伝子におけるスプライス部位変異(IVS4-2A>G)の検討2009
- Author(s)
  和田友香, 深見真紀, 緒方勤
- Organizer
  第54回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] MAMLD1遺伝子におけるスプライス部位変異(IVS4-2A>G)の検討2009
- Author(s)
  和田友香, 深見真紀, 須川史啓, 宮戸真美, 緒方勤
- Organizer
  第112回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] Essential role of the MEG3-DMR in the regulation of the maternally inherited human chromosome 14q32.2 imprinting region.2009
- Author(s)
  Masayo Kagami, Maki Fukami, Maureen O'Sullivan, Andrew Green, Shuji Takada, Fumiko Kato, Anne Ferguson-Smith, Tsutomu Ogata
- Organizer
  The 24th Naito Conference
- Place of Presentation
  Sapporom
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] A gain of function mutation in the MAMLD1 discloses a new pathway in the etiology of 46, XY disorders of sex development.2009
- Author(s)
  Brandao MP, Fukami M, Mendonca BB, Santos MG, Domenice S, Arnold IJP, Ogata T, Costa EMF.
- Organizer
  The 8th Joint meeting, ESPE-LWPES in association with APEG, APPES, SLEP, JSPE.
- Place of Presentation
  New York,
- Data Source
  KAKENHI-PROJECT-20390265
[Presentation] 14番染色体インプリンティング遺伝子群の調節において, IG-DMRとMEG3-DMRは異なった役割をはたす2009
- Author(s)
  鏡雅代、高田修治、加藤芙弥子、Anne C Ferguson-Smith、緒方勤
- Organizer
  第43回日本小児内分泌学会
- Place of Presentation
  宇都宮
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 低ゴナドトロピン性性腺機能低下症女性におけるTachykinin受容体3変異の同定と臨床像の解析2009
- Author(s)
  深見真紀, 丸山哲夫, 伊達木澄人, 堀川玲子, 吉村泰典, 緒方勤
- Organizer
  第43回日本生殖内分泌学会
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] Silver-Russell syndrome and the IGF2-H19 domain: molecular and clinical studies in bodies and placentas2008
- Author(s)
  Yamazawa K, Kagami M, Ogata T
- Organizer
  EMBO Workshop on Genomic Imprinting, No. 44
- Place of Presentation
  Singapore
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] Disorders of Sex Development : New Gene and New Mechanism2008
- Author(s)
  Ogata T
- Organizer
  The 47th Meeting of European Society for Paediatric Endocrinology
- Place of Presentation
  Istanbul
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] 性分化異常症責任遺伝子MAMLD1の臨床的および分子遺伝学的解析2008
- Author(s)
  深見真紀, 和田友香, 須川史啓, 宮戸真美, 上松あゆ美, 長谷川奉延, 緒方勤
- Organizer
  第42回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] シルバーラッセル症候群におけるH19-DMRのエピ変異と個体および胎盤表現型の検討2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第111回日本小児科学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.2008
- Author(s)
  Fukami M, Homma K, Ogata T
- Organizer
  International Symposium for Gonad and Brain Sex Differentiation.
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] シルバーラッセル症候群における分子遺伝学的および臨床学的所見とその相関2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第53回日本人類遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] 性分化異常症責任遺伝子MAMLD1の臨床的および分子遺伝学的解析2008
- Author(s)
  深見真紀, 和田友香, 須川史啓, 宮戸真美, 上松あゆ美, 長谷川奉延, 諸橋憲一郎, 緒方勤
- Organizer
  第31回日分子生物学会総会
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] ゴナドトロピン分泌不全症における分子遺伝学的および臨床的解析2008
- Author(s)
  緒方勤
- Organizer
  第81回内分泌学会学術総会シンポジウム.ゴナドトロピン分泌制御の新知見
- Place of Presentation
  青森
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] 14番染色体母性片親性ダイソミーはPrader-Willi症候群の鑑別疾患である。2008
- Author(s)
  鏡雅代、斎藤伸治、高桑聖、田中藤樹、緒方勤
- Organizer
  第42回日本小児内分泌学会学術集会
- Place of Presentation
  米子
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 性分化異常症責任遺伝子MAMLD1の臨床的および分子遺伝学的解析2008
- Author(s)
  深見真紀, 和田友香, 須川史啓, 宮戸真美, 上松あゆ美, 長谷川奉延, 緒方勤
- Organizer
  第53回日本人類遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20390265
[Presentation] シルバーラッセル症候群の個体と胎盤におけるIGF2-H19ドメインの解析2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第2回日本エピジェネティクス研究会
- Place of Presentation
  三島
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群における分子遺伝学的および臨床学的所見とその相関2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第42回日本小児内分泌学会
- Place of Presentation
  米子
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] 性分化異常症の遺伝的機序2008
- Author(s)
  緒方勤
- Organizer
  第111回日本小児泌科学会学術集会イブニングシンポジウム:性分化異常症診療への新展開
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] 14番染色体インプリンティング遺伝子群の調節にはGTL2-DMRが決定的な役割を果たす2008
- Author(s)
  鏡雅代、加藤芙弥子、西村玄、緒方勤
- Organizer
  第53回日本人類遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 性分化異常症責任遺伝子MAMLD1の臨床的および分子遺伝学的解析2008
- Author(s)
  深見真紀, 和田友香, 須川史啓, 宮戸真美, 上松あゆ美, 長谷川奉延, 緒方勤
- Organizer
  第53回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] Disorders of Sex Development: New Gene and New Mechanism2008
- Author(s)
  Ogata T
- Organizer
  The 47th Meeting of European Society for Paediatric Endocnnology
- Place of Presentation
  Istanbul
- Data Source
  KAKENHI-PROJECT-16086215
[Presentation] 14番染色体父親性ダイソミー、母親性ダイソミーの表現型を招く疾患発症機序の解明2008
- Author(s)
  鏡雅代、加藤芙美子、西村玄、田中葉子、黒澤健司、石野史敏、緒方勤
- Organizer
  第111回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 性分化異常症の遺伝的機序:新しい展開2007
- Author(s)
  緒方勤
- Organizer
  第16回日本小児泌尿器科学会総会特別講演
- Place of Presentation
  神戸
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] 新規性分化異常症責任遺伝子の同定と機能解析2007
- Author(s)
  深見真紀, 和田友香, 岡田美智代, 宮林香奈子, 長谷川奉延, 山田源, 諸橋憲一郎, Jocelyn Laporte, 北川元生, 緒方勤
- Organizer
  第52回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] The novel hypospadias gene CXorf6 transactivates the promoter of a non-canonical Notch target gene Hes3 and contaills the target sequence for SF-12007
- Author(s)
  Fukami M, Morohashi K, Wada Y, Okada M, Laporte J, Kitagawa M, Ogata T
- Organizer
  The Endocrine Society's 89th Amual Meeting
- Place of Presentation
  トロント
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] The novel hypospadias gene CXorf6 transactivates the promoter of a non-canonical Notch target gene Hes3 and contains the target sequence for SF-1.2007
- Author(s)
  Fukami M, Morohashi K, Wada Y, Okada M, Laporte J, Kitagawa M, Ogata T
- Organizer
  The Endocrine Society's 89th Annual Meeting
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] CXorf6 (MAMLD1: mastermind-like domain containing 1) transactivates the promoter of Hes3 and contains the target sequence for SF-12007
- Author(s)
  深見真紀, 和田友香, 岡田美智代, 加藤芙美子, 勝又則行, 馬場崇, 諸橋憲一郎, Jocelyn Laporte, 北川元生, 緒方勤
- Organizer
  第11回小児分子内分泌研究会
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] シルバーラッセル症候群におけるH19-メチル化可変領域のエピ変異と個体および胎盤表現型の検討2007
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第41回日本小児内分泌学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] The novel hypospadias gene CXorf6 transactivates the promoter of a non-canonical Notch target gene Hes3 and contains the tazget sequence for SF-12007
- Author(s)
  Fukami M, Morohashi K, Wada Y, Okada M, Iaporte J, Kitagawa M, Ogata T
- Organizer
  The Endocrine Society's 89th Annual Meeting
- Place of Presentation
  トロント
- Data Source
  KAKENHI-PROJECT-16086215
[Presentation] POR:まとめと今後の展望2007
- Author(s)
  緒方勤
- Organizer
  第17回臨床内分泌代謝updateシンポジウム:POR異常症をめぐって
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] 新規性分化異常症責任遺伝子の同定2007
- Author(s)
  深見真紀, 緒方勤
- Organizer
  第17回臨床内分泌代謝update
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] 停留精巣患者62例における精巣導体形成遺伝子INSL3とGREATの変異および多型解析2007
- Author(s)
  山澤一樹,和田友香,笹川五十次,上岡克彦,緒方勤
- Organizer
  第52回日本人類遺伝学会大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] 新規性分化異常症責任遺伝子の同定と機能解析2007
- Author(s)
  深見真紀, 和田友香, 長谷川奉延, 山田源, 諸橋憲一郎, 緒方勤
- Organizer
  第80回内分泌学会学術総会:高得点演題
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] 新規性分化異常症責任遺伝子によるNotch標的遺伝子の活性化2007
- Author(s)
  深見真紀, 和田友香, 岡田美智代, 長谷川奉延, 山田源, 諸橋憲一郎, 北川元生, 緒方勤
- Organizer
  第30回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-19390290
[Presentation] インプリンティング疾患発症機序について
- Author(s)
  緒方勤
- Organizer
  第56回日本小児神経学会
- Place of Presentation
  浜松
- Year and Date
  2014-05-29 – 2014-05-31
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Environmental Impacts on Male Sexual Differentiation.
- Author(s)
  Ogata T
- Organizer
  16th International Congress of Endocrinology & the Endocrine Society’s 96th Annual Meeting & Expo
- Place of Presentation
  シカゴ（米国）
- Year and Date
  2014-06-21 – 2014-06-24
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] わかりやすい臨床遺伝学
- Author(s)
  緒方勤
- Organizer
  第9回日本小児耳鼻咽喉科学会
- Place of Presentation
  浜松
- Year and Date
  2014-06-06 – 2014-06-07
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 性分化疾患における性同一性障害：性差構築からみる性同一性障害の治療戦略
- Author(s)
  緒方勤
- Organizer
  GID（性同一性障害）学会第17回研究大会
- Place of Presentation
  大阪
- Year and Date
  2015-03-21 – 2015-03-22
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] インプリンティング機構と胎児・胎盤の成長
- Author(s)
  緒方勤
- Organizer
  第87回日本内分泌学会
- Place of Presentation
  福岡
- Year and Date
  2014-04-24 – 2014-04-26
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Environmental impacts on male sexual differentiation.
- Author(s)
  T. Ogata
- Organizer
  The 16th International Congress of Endocrinology & the Endocrine Society’s 96th Annual Meeting & Expo
- Place of Presentation
  Chicago, USA
- Year and Date
  2014-06-21 – 2014-06-24
- Invited
- Data Source
  KAKENHI-PROJECT-22227002
[Presentation] 精子形成障害と内分泌撹乱化学物質感受性．
- Author(s)
  緒方勤
- Organizer
  第33回アンドロロジー学会
- Place of Presentation
  軽井沢
- Year and Date
  2014-06-12 – 2014-06-13
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] インプリンティング機構と胎児・胎盤の成長
- Author(s)
  緒方　勤
- Organizer
  第87回日本内分泌学会学術総会シンポジウム
- Place of Presentation
  福岡
- Year and Date
  2014-04-24 – 2014-04-26
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] インプリンティング疾患発症機序について
- Author(s)
  緒方　勤
- Organizer
  第56回小児神経学会
- Place of Presentation
  浜松
- Year and Date
  2014-05-29 – 2014-05-31
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] 内分泌撹乱環境化学物質と男児外性器異常
- Author(s)
  緒方勤
- Organizer
  第117回日本小児科学会学術集会
- Place of Presentation
  名古屋
- Year and Date
  2014-04-11 – 2014-04-13
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] 四肢形成不全の分子遺伝学：裂手裂足症およびその関連疾患の発症機序　2014年4月17–18日，那覇．
- Author(s)
  緒方勤
- Organizer
  第57回日本手外科学会学術集会
- Place of Presentation
  那覇
- Year and Date
  2014-04-17 – 2014-04-18
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Environmental Impacts on Male Sexual Differentiation. In: Symposium Global Human Exposure to Endocrine Disrupting Chemicals.
- Author(s)
  Ogata T
- Organizer
  16th International Congress of Endocrinology & the Endocrine Society’s 96th Annual Meeting & Expo.
- Place of Presentation
  シカゴ（アメリカ）
- Year and Date
  2014-06-21 – 2014-06-24
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] Genetics of DSD (Disorders of sex development)
- Author(s)
  Ogata T
- Organizer
  PAS/ASPR (Pediatric Academic Societies and Asian Society for Pediatric Research) 2014.
- Place of Presentation
  バンクーバー（カナダ）
- Year and Date
  2014-05-03 – 2014-05-06
- Invited
- Data Source
  KAKENHI-PLANNED-22132004
[Presentation] Genetics of DSD (Disorders of sex development). Plenary Lecture.
- Author(s)
  Ogata T
- Organizer
  PAS/ASPR (Pediatric Academic Societies and Asian Society for Pediatric Research)
- Place of Presentation
  バンクーバー（カナダ）
- Year and Date
  2014-05-03 – 2014-05-06
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] わかりやすい臨床遺伝学
- Author(s)
  緒方　勤
- Organizer
  第9回日本小児耳鼻咽喉科学会
- Place of Presentation
  浜松
- Year and Date
  2014-06-06 – 2014-06-07
- Invited
- Data Source
  KAKENHI-PROJECT-25253023
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OGATA Tsutomu 緒方 勤

Research Projects

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Co-Researchers

Clarification of underlying factors for disorders of sex development and reproductive dysfunction as multifactorial disordersPrincipal Investigator

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Identification of the germline-derived GNAS gain-of-function mutations and clarification of the novel mechanism leading to GNAS loss-of-functionPrincipal Investigator

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Clarification of (epi)genetic mechanisms involved in the development of human imprinting disordersPrincipal Investigator

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Clarification of underlying factors involved in the establishment of sex differencesPrincipal Investigator

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Clarification of (epi)genetic causes leading to the development of human imprinting disordersPrincipal Investigator

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OGATA Tsutomu 緒方勤

[Book] ヌーナン症候群．横谷進（編）成長障害のマネジメント　改定第3版2013

[Book] 性分化の分子生物学．吉田修（監），小川修、岡田裕作、荒井陽一、寺地敏郎、松田公志、筧義行、羽渕友則（編）ベッドサイド泌尿器科学　改定第4版2013