• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

FUKAMI Maki  深見 真紀

ORCIDConnect your ORCID iD *help
Researcher Number 40265872
Other IDs
External Links
Affiliation (Current) 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, 部長
Affiliation (based on the past Project Information) *help 2016 – 2023: 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, 部長
2017: 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
2016: 国立成育医療研究センター, 分子内分泌研究部, 部長
2016: 国立生育医療センター研究所, 分子内分泌研究室, 室長
2015 – 2016: 国立研究開発法人国立成育医療研究センター, その他部局等, その他 … More
2015: 国立研究開発法人国立成育医療研究センター, その他部局等, 部長
2015: 独立行政法人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
2014: 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
2014: (独)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
2012 – 2014: 独立行政法人国立成育医療研究センター, その他部局等, その他
2013: 独立行政法人国立成育医療研究センター研究所, 分子内分泌研究部
2011: (独)国立成育医療研究センター, 研究所・分子内分泌研究部, 室長
2011: 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, 室長
2010: National Research Institute for Child Health and Development, 臨床内分泌研究室, 室長
2009: 国立成育医療センター(研究所), 小児思春期発育研究部, 室長
2009: 国立成育医療センター研究所, 周産期病態研究部, 室長
2009: National Research Institute for Child Health and Development, 小児思春期発育研究部, 室長
2008: 国立成育医療センター研究所, 小児思春期発育研究部, 室長
2006 – 2008: 国立成育医療センター(研究所), 周産期病態研究部, 室長
2007: 国立成育医療センター(研究所), 同産期病態研究部, 室長
2006 – 2007: 国立成育医療センター研究所, 研究員
2006: 国立成育医療センター(研究所), 小児思春期発育研究部, 室長
2004 – 2006: National Research Institute for Child Health and Development, Research Fellow, 研究員
2005: 国立成育医療センター(研究所), 小児思春期発育研究部, 研究員
2004: 国立成育医療センター研究所, 研究員
2004: 国立成育医療センター研究所, 小児思春期発育研究部, 研究員
1997: 慶應義塾大学, 医学部, 助手
1996: Keio University, Pediatrics, Assistant, 医学部, 助手
1995: 慶應義塾大学, 医学部, 助手 Less
Review Section/Research Field
Principal Investigator
Endocrinology / Medium-sized Section 44:Biology at cellular to organismal levels, and related fields / Basic Section 43050:Genome biology-related / Medical genome science / Biological Sciences / Metabolomics / Pediatrics / Human genetics
Except Principal Investigator
Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related … More / Pediatrics / Biological Sciences / Basic Section 56040:Obstetrics and gynecology-related / Medium-sized Section 56:Surgery related to the biological and sensory functions and related fields / Medium-sized Section 54:Internal medicine of the bio-information integration and related fields / Embryonic/Neonatal medicine / Endocrinology / Hygiene and public health / Biological Sciences Less
Keywords
Principal Investigator
遺伝子 / ゲノム / 性分化 / 疾患 / ホルモン / 性染色体 / 内分泌学 / 生殖 / 内分泌 / 染色体 … More / 液-液相分離 / 性 / 細胞 / 精子形成 / 不妊症 / 先天奇形 / X染色体不活化 / 染色体構造異常 / 性差 / 先天性疾患 / 疾患感受性 / 糖尿病 / 感受性 / Urine steroid hormone analysis / Endocrinology / 46, XX DSD / Steroidogenesis / Cytochrome P450 Oxidoreductase / 男性ホルモン / 胎盤アロマターゼ / 尿ステロイド代謝産物解析 / 性分化異常 / チトクロムP450オキシドレダクターゼ / Backdoor pathway / 性分化異常症 / ステロイド産生障害 / Cytochrome P450 oxidoreductase / 生殖内分泌 / 染色体微細構造異常 / 細胞遺伝学 / 小児内分泌学 / 先天疾患 / Notch / MAMLD1 / ステロイド / 性ホルモン / 生殖内分泌学 … More
Except Principal Investigator
21水酸化酵素欠損症 / 遺伝子治療 / SHOX / 11β水酸化酵素欠損症 / アデノウィルス随伴ウィルスベクター / 先天性副腎皮質過形成 / 先天性副腎皮質過形成症 / 性染色体 / ips細胞 / 性分化疾患 / 遺伝子解析 / Haploinsufficiency / 発現調節領域 / 半量不全 / X染色体不活化 / X染色体 / 副腎皮質過形成症 / アデノウィルス関連ウィルスベクター / 遺伝子型-表現型解析 / 尿道下裂 / MAMLD1 / 遺伝子機能 / 遺伝子変異 / POR / SF1 / 多因子疾患 / 性分化異常症 / ヒト多能性幹細胞 / 胎盤オルガノイド / P450チトクロームオキシダーゼ / female細胞 / ヒト受精胚 / 生命発動 / 器官発生 / 多能性幹細胞 / 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 / CYP11B1 / CYP21A2 / iPS細胞 / 遺伝学 / ICR2 / ICR1 / IMAGe症候群 / シルバーラッセル症候群 / 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 / 成長障害 / 胎盤低形成 / シルバーラッセル症候群(SRS) / 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 / 遺伝的要因 / 環境要因 / 内分泌要因 / 遺伝要因 / 性スペクトラム / スペクトラム / 性 / 整形外科学 / 先天奇形 / 小児科学 / 人類遺伝学 / 原因遺伝子 / 裂手裂足症 / 臨床遺伝学 / 先天異常 / DNAメチル化 / CYP / 環境化学物質 / エピジェネティクス / バイオマーカー / SRD5A2 / CYP1 / ゲノム編集 / 次世代シークエンサ- / ゲノム解析 / 性分化疾患(DSD) / アレイCGH / 次世代シークエンス / スプライス異常 / 機能亢進変異 / エクソーム解析 / PROKR2 / GATA4 / ナンセンス随伴性スプライス変更 / AR / NR5A1 / MAP3K1 / 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 / Homologous genes / Exon trapping / Positional cloning / X-inactivation / Syndromic MR / Non-specific MR / Mental retardation gene / X chromosome / 相同遺伝子 / エクソントラッピング / ポジショナルクローニング / 症候性知能障害 / 非特異的知能障害 / 知能障害遺伝子 / Short stature / Cosmid / Yeast artificial chromosome / Gene cloning / Y-specific region / Pseudoautosomal region / Growth gene / Sex chromosome / 低身長 / コスミド / 酵母人工染色体 / 遺伝子クローニング / Y特異的領域 / 擬常染色体領域 / 成長決定遺伝子 / ES細胞 / ウィルスベクター / 小児内分泌 / 線維芽細胞 / レトロウィルスベクター / 副腎皮質過形成 / 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 / ヒト疾患 / 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 / CXorf6 / ノックアウトマウス / 臨床像 / 性分化 / 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 Less
  • Research Projects

    (31 results)
  • Research Products

    (511 results)
  • Co-Researchers

    (62 People)
  •  Development of AAV vector for in vivo treatment for congenital adrenal hyperplasia

    • Principal Investigator
      内木 康博
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      National Center for Child Health and Development
  •  三次元組織化胎盤発生モデルを基盤とした分化誘導最適化AIモデルの開発

    • Principal Investigator
      川崎 友之
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 56040:Obstetrics and gynecology-related
    • Research Institution
      National Center for Child Health and Development
  •  unctional and structural characterization of the human Y chromosomePrincipal Investigator

    • Principal Investigator
      Maki Fukami
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 43050:Genome biology-related
    • Research Institution
      National Center for Child Health and Development
  •  new approach to elucidate molecular mechanisms of sexual differentiationPrincipal Investigator

    • Principal Investigator
      Fukami Maki
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Challenging Research (Exploratory)
    • Review Section
      Medium-sized Section 44:Biology at cellular to organismal levels, and related fields
    • Research Institution
      National Center for Child Health and Development
  •  Clarification of underlying factors for disorders of sex development and reproductive dysfunction as multifactorial disorders

    • 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
  •  Elucidating the Molecular Mechanisms in Human Fertilized Embryos Governing Developmental Initiation and Organogenesis Regulation

    • Principal Investigator
      Akutsu Hidenori
    • Project Period (FY)
      2020 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Review Section
      Medium-sized Section 56:Surgery related to the biological and sensory functions and related fields
    • Research Institution
      National Center for Child Health and Development
  •  Development of gene therapy for congenital adrenal hyperplasia using AAV vectors and iPS cells

    • Principal Investigator
      Naiki Yasuhiro
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      National Center for Child Health and Development
  •  Administration of sex spectrum research

    • Principal Investigator
      Tachibana Makoto
    • 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
      Osaka University
      The University of Tokushima
  •  Molecular basis of human sex spectrumPrincipal Investigator

    • 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
  •  Study for chromosomal instability leading to human disordersPrincipal Investigator

    • Principal Investigator
      Fukami Maki
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Medical genome science
    • 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-function

    • 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
  •  Elucidation of pathogenic mechanisms of disorders of sex development using systematic molecular analysis

    • Principal Investigator
      Igarashi Maki
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      National Center for Child Health and Development
  •  Development of gene therapy for congenital adrenal hyperplasia using AAV vectors and iPS cells

    • Principal Investigator
      Naiki Yasuhiro
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      National Center for Child Health and Development
  •  Clarification of molecular basis of type 1 diabetes using novel technologiesPrincipal Investigator

    • Principal Investigator
      Fukami Maki
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Metabolomics
    • Research Institution
      National Center for Child Health and Development
  •  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
  •  Clarification of molecular basis of pubertal disorders and disorders of sex developmentPrincipal Investigator

    • Principal Investigator
      Fukami Maki
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Endocrinology
    • Research Institution
      National Center for Child Health and Development
  •  Relationship between chemical exposure biomarkers and DNA methylation levels in the malformations of external reproductive system of young males

    • Principal Investigator
      Ohsako Seiichiroh
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Hygiene and public health
    • Research Institution
      The University of Tokyo
  •  Extra-Adrenal Induction of Cyp21a1 Ameliorates Systemic Steroid Metabolism in a Mouse Model of Congenital Adrenal Hyperplasia

    • Principal Investigator
      Naiki Yasuhiro
    • Project Period (FY)
      2013 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      National Center for Child Health and Development
  •  Genetic and environmental factors involved in human genomic instabilityPrincipal Investigator

    • Principal Investigator
      FUKAMI maki
    • Project Period (FY)
      2013 – 2014
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Human genetics
    • Research Institution
      National Research Institute for Child Health and Development
  •  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
  •  Investigation for molecular basis of hypothalamo-pituitary-gonadal dysfunctionPrincipal Investigator

    • Principal Investigator
      FUKAMI MAKI
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Endocrinology
    • Research Institution
      National Research Institute for Child Health and Development
  •  Clarification of underlying factors involved in the establishment of sex differences

    • 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
  •  Extra-adrenal expression of Cyp21a1 for gene therapy of congenital adrenal hyperplasia

    • Principal Investigator
      NAIKI Yasuhiro
    • Project Period (FY)
      2010 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      National Research Institute for Child Health and Development
  •  Molecular mechanism leading to impaired sexual differentiation and reproductive failure in patients with MAMLD mutationsPrincipal Investigator

    • 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 factors

    • 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
  •  Clarification of molecular bases involved in 46, XX disorders development in patients with cytochrome P450 oxidoreductase deficiencyPrincipal Investigator

    • Principal Investigator
      FUKAMI Maki
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • 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 sdyschomndrosteosis

    • 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 dysfunction

    • 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 syndrome

    • 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
  •  Towards the cloning of the mental retardation gene (s) on the distal Xp

    • Principal Investigator
      MATSUO Nobutake
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Keio University
  •  Molecular and clinical research of the growth genes on the sex chromosomes

    • Principal Investigator
      MATSUO Nobutake
    • Project Period (FY)
      1995 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Keio University School of Medicine

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 Other

All Journal Article Presentation Book Other

  • [Book] 遺伝子から解き明かす性の不思議な世界2019

    • Author(s)
      深見真紀 (田中実 編)
    • Total Pages
      542
    • Publisher
      一式出版
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Book] 遺伝子から解き明かす性の不思議な世界2019

    • Author(s)
      深見真紀
    • Total Pages
      542
    • Publisher
      一式出版
    • Data Source
      KAKENHI-PROJECT-17H03616
  • [Book] Chromothripsis2018

    • Author(s)
      Fukami M, Kurahashi H
    • Total Pages
      367
    • Publisher
      Springer
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Journal Article] Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.2024

    • Author(s)
      Muranishi Y, Kobori Y, Katoh-Fukui Y, Tamaoka S, Hattori A, Osaka A, Okada H, Nakabayashi K, Hata K, Kawai T, Ogata-Kawata H, Iwahata T, Saito K, Kon M, Shinohara N, Fukami M.
    • Journal Title

      Hum Reprod.

      Volume: 39 Issue: 5 Pages: 1131-1140

    • DOI

      10.1093/humrep/deae057

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K09737, KAKENHI-PROJECT-21K19283, KAKENHI-PROJECT-21H02464
  • [Journal Article] Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression2023

    • Author(s)
      Katoh-Fukui Yuko、Hattori Atsushi、Zhang Ruogu、Terao Miho、Takada Shuji、Nakabayashi Kazuhiko、Hata Kenichiro、Yamada Yutaka、Matsuura Nobuo、Fukami Maki
    • Journal Title

      Human Molecular Genetics

      Volume: 32 Issue: 14 Pages: 2318-2325

    • DOI

      10.1093/hmg/ddad053

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H00550
  • [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] Y Chromosome Genomic Variations and Biological Significance in Human Diseases and Health2023

    • Author(s)
      Kuroki Yoko、Fukami Maki
    • Journal Title

      Cytogenetic and Genome Research

      Volume: 163 Issue: 1-2 Pages: 5-13

    • DOI

      10.1159/000531933

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21H02464
  • [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] Exome‐based genome‐wide screening of rare variants associated with the risk of polycystic ovary syndrome2023

    • Author(s)
      Tamaoka Satoshi、Saito Kazuki、Yoshida Tomoko、Nakabayashi Kazuhiko、Tatsumi Kenichi、Kawamura Toshihiro、Matsuzaki Toshiya、Matsubara Keiko、Ogata‐Kawata Hiroko、Hata Kenichiro、Kato‐Fukui Yuko、Fukami Maki
    • Journal Title

      Reproductive Medicine and Biology

      Volume: 22 Issue: 1

    • DOI

      10.1002/rmb2.12504

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K19283
  • [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] Adeno-associated virus-mediated gene therapy for patient's fibroblasts, induced pluripotent stem sells, and a mouse model of congenital adrenal hyperplasia2022

    • Author(s)
      Naiki Y, Miyado M, Shindo M, Horikawa R, Hasegawa Y, Katsumata N, Takada S, Akutsu H, Onodera M, Fukami M
    • Journal Title

      Human Gene Therapy

      Volume: 33 Issue: 15-16 Pages: 801-809

    • DOI

      10.1089/hum.2022.005

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K07950, KAKENHI-PROJECT-21K18298
  • [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] 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] 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] 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] 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] 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] Mosaic loss of the Y chromosome and men's health.2022

    • Author(s)
      Fukami M and Miyado M.
    • Journal Title

      Reproductive Medicine and Biology

      Volume: 21 Issue: 1

    • DOI

      10.1002/rmb2.12445

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00550, KAKENHI-PROJECT-21K18298, KAKENHI-PROJECT-21H02464
  • [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] 11-Oxyandrogens from the viewpoint of pediatric endocrinology2022

    • Author(s)
      Fukami Maki
    • Journal Title

      Clinical Pediatric Endocrinology

      Volume: 31 Issue: 3 Pages: 110-115

    • DOI

      10.1297/cpe.2022-0029

    • ISSN
      0918-5739, 1347-7358
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-22K09632, KAKENHI-PROJECT-21K19283
  • [Journal Article] Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development2021

    • Author(s)
      Ushijima Kikumi、Ogawa Yuya、Terao Miho、Asakura Yumi、Muroya Koji、Hayashi Mie、Ishii Tomohiro、Hasegawa Tomonobu、Sekido Ryohei、Fukami Maki、Takada Shuji、Narumi Satoshi
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 185 Issue: 4 Pages: 1067-1075

    • DOI

      10.1002/ajmg.a.62063

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Journal Article] Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (<i>PMM2</i>) 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] Circulating steroids and mood disorders in patients with polycystic ovary syndrome.2021

    • Author(s)
      Yoshida T, Saito K, Kawamura T, Ishikawa T, Kato T, Matsubara K, Miyasaka N, Miyado M and Fukami M.
    • Journal Title

      Steroids

      Volume: 165 Pages: 108748-108748

    • DOI

      10.1016/j.steroids.2020.108748

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09682, KAKENHI-PROJECT-19K18632, KAKENHI-PROJECT-20H00550, KAKENHI-PLANNED-17H06428
  • [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] 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] Correction to: Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism2021

    • Author(s)
      Haque Muhammad Nazmul、Ohtsubo Masafumi、Nishina Sachiko、Nakao Shiro、Yoshida Kazue、Hosono Katsuhiro、Kurata Kentaro、Ohishi Kentaro、Fukami Maki、Sato Miho、Hotta Yoshihiro、Azuma Noriyuki、Minoshima Shinsei
    • Journal Title

      Journal of Human Genetics

      Volume: . Issue: 6 Pages: 645-645

    • DOI

      10.1038/s10038-021-00900-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [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] Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification.2021

    • Author(s)
      Ogiwara Y, Miyado M, Suzuki E, Niida S, Ozaki K and Fukami M.
    • Journal Title

      Journal of Human Genetics

      Volume: 66 Issue: 12 Pages: 1181-1184

    • DOI

      10.1038/s10038-021-00943-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-21H02464, KAKENHI-PROJECT-21K18298
  • [Journal Article] Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangements2021

    • Author(s)
      Kawashima Sayaka、Hattori Atsushi、Suzuki Erina、Matsubara Keiko、Toki Machiko、Kosaki Rika、Hasegawa Yukihiro、Nakabayashi Kazuhiko、Fukami Maki、Kagami Masayo
    • Journal Title

      Clinical Epigenetics

      Volume: 13 Issue: 1 Pages: 134-134

    • DOI

      10.1186/s13148-021-01121-6

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00550
  • [Journal Article] Role of liquid-liquid separation in endocrine and living cells.2021

    • Author(s)
      Akiba K, Katoh-Fukui Y, Yoshida K, Narumi S, Miyado M, Hasegawa Y and Fukami M.
    • Journal Title

      Journal of the Endocrine Society

      Volume: 5 Issue: 10

    • DOI

      10.1210/jendso/bvab126

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-21K18298, KAKENHI-PROJECT-21K19283
  • [Journal Article] Female-dominant estrogen production in healthy young children before adrenarche.2021

    • Author(s)
      Maki Igarashi, Tadayuki Ayabe, Kiwako Yamamoto-Hanada, Keiko Matsubara, Hatoko Sasaki, Mayako Saito-Abe, Miori Sato, Nathan Mise, Akihiko Ikegami, Masayuki Shimono, Reiko Suga, Shouichi Ohga, Masafumi Sanefuji, Masako Oda, Hiroshi Mitsubuchi, Takehiro Michikawa, Shin Yamazaki, Shoji Nakayama, Yukihiro Ohya, Maki Fukami
    • Journal Title

      Endocrine connections

      Volume: 10 Issue: 10 Pages: 1221-1226

    • DOI

      10.1530/ec-21-0134

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K11709, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00550
  • [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] Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency2021

    • Author(s)
      Akiba Kazuhisa、Aso Keiko、Hasegawa Yukihiro、Fukami Maki
    • Journal Title

      Journal of Pediatric Endocrinology and Metabolism

      Volume: 34 Issue: 9 Pages: 1191-1195

    • DOI

      10.1515/jpem-2020-0678

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [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] Quantification of androgens and their precursors in full-term human placenta.2021

    • Author(s)
      Yoshida T, Matsumoto K, Miyado M, Miyashiro Y, Sago H, Horikawa R and Fukami M.
    • Journal Title

      European Journal of Endocrinology

      Volume: 185 Issue: 5 Pages: K7-K11

    • DOI

      10.1530/eje-21-0312

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-21K18298
  • [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] Established and Novel Mechanisms Leading to de novo Genomic Rearrangements in the Human Germline2020

    • Author(s)
      Hattori Atsushi、Fukami Maki
    • Journal Title

      Cytogenetic and Genome Research

      Volume: 160 Issue: 4 Pages: 167-176

    • DOI

      10.1159/000507837

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00550
  • [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] Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y.2020

    • Author(s)
      Suzuki E, Kobori Y, Katsumi M, Ushijima K, Uchiyama T, Okada H, Miyado M and Fukami M.
    • Journal Title

      Reprod Med Biol.

      Volume: 19 Issue: 2 Pages: 178-181

    • DOI

      10.1002/rmb2.12321

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11194, KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17K11206, KAKENHI-PROJECT-19K08312
  • [Journal Article] Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies2020

    • Author(s)
      Iwahashi-Odano Megumi、Nagasaki Keisuke、Fukami Maki、Nishioka Junko、Yatsuga Shuichi、Asakura Yumi、Adachi Masanori、Muroya Koji、Hasegawa Tomonobu、Narumi Satoshi
    • Journal Title

      The Journal of Clinical Endocrinology & Metabolism

      Volume: 105 Issue: 11 Pages: 4055-4065

    • DOI

      10.1210/clinem/dgaa584

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K10024, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-19K22607
  • [Journal Article] 45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case report2020

    • Author(s)
      Kawabe Yasuhiro、Yamaguchi Mihoko、Miyagaki Satoshi、Ota Takeshi、Morimoto Hidechika、Hattori Atsushi、Fukami Maki、Mori Jun
    • Journal Title

      Clinical Pediatric Endocrinology

      Volume: 29 Issue: 4 Pages: 189-193

    • DOI

      10.1297/cpe.29.189

    • NAID

      130007922181

    • ISSN
      0918-5739, 1347-7358
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Journal Article] De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue2020

    • Author(s)
      Matsubara Keiko、Yanagida Kaede、Nagai Toshiro、Kagami Masayo、Fukami Maki
    • Journal Title

      Frontiers in Genetics

      Volume: 11

    • DOI

      10.3389/fgene.2020.00132

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616
  • [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] SOX9 is colocalized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins2020

    • Author(s)
      Akiba Kazuhisa、Narumi Satoshi、Nishimura Riko、Kato‐Fukui Yuko、Takada Shuji、Hasegawa Yukihiro、Fukami Maki
    • Journal Title

      Molecular Reproduction and Development

      Volume: 87 Issue: 11 Pages: 1124-1125

    • DOI

      10.1002/mrd.23425

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00550, KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-18K06926
  • [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] Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour2020

    • Author(s)
      Nagasaki Keisuke、Takase Kaoru、Numakura Chikahiko、Homma Keiko、Hasegawa Tomonobu、Fukami Maki
    • Journal Title

      Human Reproduction

      Volume: 35 Issue: 11 Pages: 2609-2612

    • DOI

      10.1093/humrep/deaa221

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H00550
  • [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] Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature2020

    • Author(s)
      Kawashima Sayaka、Yagi Hiroko、Hirano Yasuhiro、Toki Machiko、Izumi Kei、Dateki Sumito、Namba Noriyuki、Kamimaki Tsutomu、Muroya Koji、Tanaka Toshiaki、Fukami Maki、Kagami Masayo、_ _
    • Journal Title

      Journal of Pediatric Endocrinology and Metabolism

      Volume: 33 Issue: 10 Pages: 1335-1339

    • DOI

      10.1515/jpem-2020-0198

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [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] Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report2020

    • Author(s)
      Uchida Noboru、Ohnishi Takuma、Kojima Takuro、Takahashi Tsutomu、Makita Yoshio、Fukami Maki、Shibata Hironori、Hasegawa Tomonobu、Ishii Tomohiro
    • Journal Title

      Clinical Pediatric Endocrinology

      Volume: 29 Issue: 4 Pages: 179-182

    • DOI

      10.1297/cpe.29.179

    • NAID

      130007922120

    • ISSN
      0918-5739, 1347-7358
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Journal Article] A Novel GNAS Duplication Associated With Loss‐of‐Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib ( PHP1B )2020

    • Author(s)
      Reyes Monica、Kagami Masayo、Kawashima Sayaka、Pallotta Johanna、Schnabel Dirk、Fukami Maki、J?ppner Harald
    • Journal Title

      Journal of Bone and Mineral Research

      Volume: 36 Issue: 3 Pages: 546-552

    • DOI

      10.1002/jbmr.4209

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Journal Article] Reference values for salivary cortisol in heathy young infants by LC‐MS/MS2020

    • Author(s)
      Saito‐Abe Mayako、Yamamoto‐Hanada Kiwako、Nakayama Shoji F.、Hashimoto Yuki、Natsume Osamu、Fukami Maki、Hasegawa Tomonobu、Ohya Yukihiro
    • Journal Title

      Pediatrics International

      Volume: . Issue: 7 Pages: 785-788

    • DOI

      10.1111/ped.14166

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [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] Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease2019

    • Author(s)
      Yoshii Keisuke、Matsumoto Hideki、Hirasawa Kyoko、Sakauchi Masako、Hara Hiroko、Ito Susumu、Osawa Makiko、Fukami Maki、Horikawa Reiko、Nagata Satoru
    • Journal Title

      Respiratory Investigation

      Volume: 未定 Issue: 4 Pages: 395-398

    • DOI

      10.1016/j.resinv.2019.02.008

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616
  • [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] A Follow-Up from Infancy to Puberty in a Japanese Male with<b><i> SRY</i></b>-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in <b><i>NR5A1</i></b>2019

    • Author(s)
      Saito-Hakoda Akiko、Kanno Junko、Suzuki Dai、Kawashima Sayaka、Kamimura Miki、Hirano Koji、Sakai Kiyohide、Igarashi Maki、Fukami Maki、Fujiwara Ikuma
    • Journal Title

      Sexual Development

      Volume: 印刷中 Issue: 2 Pages: 60-66

    • DOI

      10.1159/000496777

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17J40246, KAKENHI-PROJECT-16K09979
  • [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] Exploring disease-specific methylated CpGs in human male genital abnormalities by using methylated-site display-amplified fragment length polymorphism (MSD-AFLP)2019

    • Author(s)
      AIBA Toshiki、SAITO Toshiyuki、HAYASHI Akiko、SATO Shinji、YUNOKAWA Harunobu、FUKAMI Maki、HAYASHI Yutaro、MIZUNO Kentaro、SATO Yuichi、KOJIMA Yoshiyuki、OHSAKO Seiichiroh
    • Journal Title

      J. Reprod. Dev.

      Volume: 65 Issue: 6 Pages: 491-497

    • DOI

      10.1262/jrd.2019-069

    • NAID

      130007768757

    • ISSN
      0916-8818, 1348-4400
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Journal Article] WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome2019

    • Author(s)
      Sutani Akito、Shima Hirohito、Hijikata Atsushi、Hosokawa Susumu、Katoh-Fukui Yuko、Takasawa Kei、Suzuki Erina、Doi Shozaburo、Shirai Tsuyoshi、Morio Tomohiro、Fukami Maki、Kashimada Kenichi
    • Journal Title

      European Journal of Medical Genetics

      Volume: 印刷中 Issue: 1 Pages: 103626-103626

    • DOI

      10.1016/j.ejmg.2019.01.016

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K06926, KAKENHI-PROJECT-18K18154, KAKENHI-PLANNED-17H06428
  • [Journal Article] Losing maleness: Somatic Y chromosome loss at every stage of a man’s life.2019

    • Author(s)
      Miyado M and Fukami M.
    • Journal Title

      FASEB BioAdv. (in press)

      Volume: 印刷中 Pages: 350-352

    • DOI

      10.1096/fba.2019-00006

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16K08603, KAKENHI-PLANNED-17H06428
  • [Journal Article] A heterozygous protein‐truncating RFX 6 variant in a family with childhood‐onset, pregnancy‐associated and adult‐onset diabetes2019

    • Author(s)
      Akiba K.、Ushijima K.、Fukami M.、Hasegawa Y.
    • Journal Title

      Diabetic Medicine

      Volume: 未定 Issue: 10 Pages: 1772-1776

    • DOI

      10.1111/dme.13970

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16K15491
  • [Journal Article] Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to <b><i>SRY</i></b>-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] A case report and literature review of monoallelic mutation of GHR2019

    • Author(s)
      Mitani Marie、Shima Hirohito、Sato Takeshi、Inoguchi Tomohiro、Kamimaki Tsutomu、Fukami Maki、Hasegawa Tomonobu
    • Journal Title

      Journal of Pediatric Endocrinology and Metabolism

      Volume: 32 Issue: 4 Pages: 415-419

    • DOI

      10.1515/jpem-2018-0365

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Journal Article] Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells.2019

    • Author(s)
      Hattori A, Okamura K, Terada Y, Tanaka R, Katoh-Fukui Y, Matsubara Y, Matsubara K, Kagami M, Horikawa R, Fukami M
    • Journal Title

      BMC Med Genomics.

      Volume: 12 Issue: 1 Pages: 77-77

    • DOI

      10.1186/s12920-019-0526-3

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K06926, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616
  • [Journal Article] Frequency of Common Copy-Number Variations at 15q11.2q13 in Sperm of Healthy Men2019

    • Author(s)
      1.Kinoshita T, Mikami M, Ayabe T, Matsubara K, Ono H, Ohki K, Fukami M*, Katoh-Fukui Y
    • Journal Title

      Cytogenet Genome Res.

      Volume: 159 Issue: 2 Pages: 66-73

    • DOI

      10.1159/000503267

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K06926, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616
  • [Journal Article] The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. KLF11 (MODY7) variant in a family clinically diagnosed with early childhood-onset type 1B diabetes2019

    • Author(s)
      Ushijima K, Narumi S, Ogata T, Yokota I, Sugihara S, Kaname T, Horiwaka Y, Matsubara Y, Fukami M, Kawamura T
    • Journal Title

      Pediatric Diabetes

      Volume: 未定

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K15491
  • [Journal Article] Reply: Artificial cycle ‘per se’ or the specific protocol of endometrial preparation as responsible for obstetric complications of frozen cycle?2019

    • Author(s)
      Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M and Saito H.
    • Journal Title

      Human Reproduction

      Volume: 34 Issue: 12 Pages: 2554-2555

    • DOI

      10.1093/humrep/dez221

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-19H01067
  • [Journal Article] 1.Losing maleness: Somatic Y chromosome loss at every stage of a man's life.2019

    • Author(s)
      Miyado Mami, Fukami Maki
    • Journal Title

      FASEB BioAdvances

      Volume: 未定

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17H03616
  • [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] Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation2019

    • Author(s)
      Adachi Masanori、Fukami Maki、Kagami Masayo、Sho Noriko、Yamazaki Yuichiro、Tanaka Yukichi、Asakura Yumi、Hanakawa Junko、Muroya Koji
    • Journal Title

      Journal of Pediatric Endocrinology and Metabolism

      Volume: 32 Issue: 2 Pages: 191-196

    • DOI

      10.1515/jpem-2018-0464

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Journal Article] SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis2019

    • Author(s)
      Ogushi Kenichiro、Muroya Koji、Shima Hirohito、Jinno Tomoko、Miyado Mami、Fukami Maki
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 179 Issue: 9 Pages: 1778-1782

    • DOI

      10.1002/ajmg.a.61275

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616
  • [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] A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism2019

    • Author(s)
      Umino Satoko、Kitamura Miyuki、Katoh‐Fukui Yuko、Fukami Maki、Usui Takeshi、Yatsuga Shuichi、Koga Yasutoshi
    • Journal Title

      Molecular Genetics & Genomic Medicine

      Volume: - Issue: 6

    • DOI

      10.1002/mgg3.730

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K06926, KAKENHI-PLANNED-17H06428
  • [Journal Article] ヒト染色体バリエーションの新知見2019

    • Author(s)
      深見真紀
    • Journal Title

      Journal of Mammalian Ova Research

      Volume: 印刷中

    • Data Source
      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] DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.2019

    • Author(s)
      Ogushi K, Muroya K, Shima H, Jinno T, Miyado M and Fukami M.
    • Journal Title

      Cytogenetic and Genome Research

      Volume: 158 Issue: 2 Pages: 56-62

    • DOI

      10.1159/000500468

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616, KAKENHI-PROJECT-18K16249
  • [Journal Article] 片親性ダイソミー2019

    • Author(s)
      深見真紀
    • Journal Title

      遺伝子医学

      Volume: 印刷中

    • NAID

      40022087144

    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Journal Article] Dihydrotestosterone induces minor transcriptional alterations in genital skin fibroblasts of children with and without androgen insensitivity2019

    • Author(s)
      Tanase-Nakao Kanako、Mizuno Kentaro、Hayashi Yutaro、Kojima Yoshiyuki、Hara Mariko、Matsumoto Kenji、Matsubara Yoichi、Igarashi Maki、Miyado Mami、Fukami Maki
    • Journal Title

      Endocr J

      Volume: 66 Issue: 4 Pages: 387-393

    • DOI

      10.1507/endocrj.EJ18-0494

    • NAID

      130007636463

    • ISSN
      0918-8959, 1348-4540
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17J40246, KAKENHI-PROJECT-18J21048, KAKENHI-PROJECT-16K08603, KAKENHI-PROJECT-16K09979, KAKENHI-PROJECT-17K11204
  • [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] Endometrial preparation methods for frozen-thawed embryo transfer are associated with altered risks of hypertensive disorders of pregnancy, placenta accreta, and gestational diabetes mellitus.2019

    • Author(s)
      Saito K, Kuwahara A, Ishikawa T, Morisaki N, Miyado M, Miyado K, Fukami M, Miyasaka N, Ishihara O, Irahara M and Saito H.
    • Journal Title

      Human Reproduction

      Volume: 34 Issue: 8 Pages: 1567-1575

    • DOI

      10.1093/humrep/dez079

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K09682, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-19H01067
  • [Journal Article] Turner症候群の遺伝学2019

    • Author(s)
      深見真紀
    • Journal Title

      小児科診療

      Volume: 印刷中

    • Data Source
      KAKENHI-PLANNED-17H06428
  • [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] Y染色体喪失とヒトの性スペクトラム2019

    • Author(s)
      宮戸真美、深見真紀
    • Journal Title

      実験医学

      Volume: 印刷中

    • Data Source
      KAKENHI-PLANNED-17H06428
  • [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] Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome2018

    • Author(s)
      Fukami Maki
    • Journal Title

      EBioMedicine

      Volume: 37 Pages: 29-30

    • DOI

      10.1016/j.ebiom.2018.10.026

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [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] Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events.2018

    • Author(s)
      Fukami M, Kurahashi H.
    • Journal Title

      Methods Mol Biol.

      Volume: 1769 Pages: 21-33

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H03616
  • [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] An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome2018

    • Author(s)
      Katoh-Fukui Yuko、Yatsuga Shuichi、Shima Hirohito、Hattori Atsushi、Nakamura Akie、Okamura Kohji、Yanagi Kumiko、Iso Manami、Kaname Tadashi、Matsubara Yoichi、Fukami Maki
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 18006-18006

    • DOI

      10.1038/hgv.2018.6

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16K07137, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-15K06917, KAKENHI-PROJECT-18K06926, KAKENHI-PROJECT-18K07863
  • [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] 停留精巣の原因遺伝子と環境因子2018

    • Author(s)
      深見真紀
    • Journal Title

      臨床泌尿器科

      Volume: -

    • Data Source
      KAKENHI-PLANNED-17H06428
  • [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] Somatically acquired isodicentric Y and mosaic loss of chromosome Y in a boy with hypospadias.2018

    • Author(s)
      Miyado M, Muroya K, Katsumi M, Saito K, Kon M and Fukami M.
    • Journal Title

      Cytogenet Genome Res. (in press)

      Volume: 印刷中 Issue: 3 Pages: 0-0

    • DOI

      10.1159/000488162

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16K08603, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H03616, KAKENHI-PROJECT-17K11194, KAKENHI-PROJECT-17H06490
  • [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] Uniparental disomy as a cause of pediatric endocrine disorders2018

    • Author(s)
      Matsubara Keiko、Kagami Masayo、Fukami Maki
    • Journal Title

      Clinical Pediatric Endocrinology

      Volume: 27 Issue: 3 Pages: 113-121

    • DOI

      10.1297/cpe.27.113

    • NAID

      130007427363

    • ISSN
      0918-5739, 1347-7358
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Journal Article] Adrenocortical carcinoma characterized by gynecomastia: A case report2018

    • Author(s)
      Takeuchi Takako、Yoto Yuko、Ishii Akira、Tsugawa Takeshi、Yamamoto Masaki、Hori Tsukasa、Kamasaki Hotaka、Nogami Kazutaka、Oda Takanori、Nui Akihiro、Kimura Sachiko、Yamagishi Takuya、Homma Keiko、Hasegawa Tomonobu、Fukami Maki、Watanabe Yoko、Sasamoto Hidehiko、Tsutsumi Hiroyuki
    • Journal Title

      Clinical Pediatric Endocrinology

      Volume: 27 Issue: 1 Pages: 9-18

    • DOI

      10.1297/cpe.27.9

    • NAID

      130006322094

    • ISSN
      0918-5739, 1347-7358
    • Language
      English
    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Journal Article] 性分化疾患(性腺分化異常症)の診断と治療.2018

    • Author(s)
      服部淳、深見真紀
    • Journal Title

      最新女性医療

      Volume: -

    • Data Source
      KAKENHI-PLANNED-17H06428
  • [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] MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.2018

    • Author(s)
      Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S.
    • Journal Title

      PLoS One.

      Volume: 13 Issue: 11 Pages: e0206184-e0206184

    • DOI

      10.1371/journal.pone.0206184

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K11194, KAKENHI-PROJECT-18K08527, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17J40246, KAKENHI-PROJECT-16K09979
  • [Journal Article] A novel C-terminal truncating NR5A1 mutation in dizygotic twins.2017

    • Author(s)
      Hattori A, Zukeran H, Igarashi M, Toguchi S, Toubaru Y, Inoue T, Katoh-Fukui Y, Fukami M.
    • Journal Title

      Hum Genome Var.

      Volume: 印刷中 Issue: 1 Pages: 17008-17008

    • DOI

      10.1038/hgv.2017.8

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293224, KAKENHI-PROJECT-15K06917, KAKENHI-PROJECT-16K09979
  • [Journal Article] A de novo 50-bp <b><i>GNAS</i></b> 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] Paradoxical gain-of-function mutant of the G-protein-coupled receptor PROKR2 promotes early puberty.2017

    • Author(s)
      Fukami M, Suzuki E, Izumi Y, Torii T, Narumi S, Igarashi M, Miyado M, Katsumi M, Fujisawa Y, Nakabayashi K, Hata K, Umezawa A, Matsubara Y, Yamauchi J, Ogata T.
    • Journal Title

      Journal of Cellular and Molecular Medicine

      Volume: - Issue: 10 Pages: 2623-2626

    • DOI

      10.1111/jcmm.13146

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15K19538, KAKENHI-PROJECT-16K08603, KAKENHI-PROJECT-16K09979, KAKENHI-PROJECT-17K10074, KAKENHI-PROJECT-17J40246
  • [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] Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.2017

    • Author(s)
      Igarashi M, Fukami M et al.
    • Journal Title

      Hum Mutat.

      Volume: 38 Issue: 1 Pages: 39-42

    • DOI

      10.1002/humu.23116

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293224, KAKENHI-PROJECT-16K08593, KAKENHI-PROJECT-16K08603, KAKENHI-PROJECT-16K09979
  • [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] Nucleotide substitutions in CD101, the human homolog of a diabetes susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes.2017

    • Author(s)
      Okuno M, Kasahara Y, Onodera M, Takubo N, Okajima M, Suga S, Watanabe N, Suzuki J, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Ogata T, Fukami M, Sugihara S
    • Journal Title

      J Diabetes Investig.

      Volume: 印刷中 Issue: 3 Pages: 286-294

    • DOI

      10.1111/jdi.12586

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15491
  • [Journal Article] Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.2017

    • Author(s)
      Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, Fukami M
    • Journal Title

      Cytogenet Genome Res.

      Volume: 151 Issue: 1 Pages: 1-4

    • DOI

      10.1159/000458469

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293224, KAKENHI-PROJECT-15K19538
  • [Journal Article] The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice2016

    • Author(s)
      Miyado M, Inui M, Igarashi M, Katoh-Fukui Y, Takasawa K, Hakoda A, Kanno J, Kashimada K, Miyado K, Tamano M, Ogata T, Takada S, Fukami M
    • Journal Title

      Biol Sex Differ

      Volume: 7 Issue: 1 Pages: 56-56

    • DOI

      10.1186/s13293-016-0114-6

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-26293363, KAKENHI-PROJECT-26670733, KAKENHI-PROJECT-15K06917, KAKENHI-PROJECT-16K08603, KAKENHI-PROJECT-16K09979
  • [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] NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.2016

    • Author(s)
      Shima H, Fukami M et al.
    • Journal Title

      Sex Dev.

      Volume: 10 Pages: 205-209

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Journal Article] Endocrinopathies in a Boy with Cryptic Copy-number Variations on 4q, 7q, and Xp2016

    • Author(s)
      Okuno M, Ogata T, Nakabayashi K, Urakami T, Fukami M, Nagasaki K.
    • Journal Title

      Hum Genome Variat

      Volume: 未定

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Journal Article] Copy Number Variations of the Azoospermia Factor Region and SRY Are Not Associated with the Risk of Hypospadias.2016

    • Author(s)
      Kon M, Saito K, Mitsui T, Miyado M, Igarashi M, Moriya K, Nonomura K, Shinohara N, Ogata T, Fukami M.
    • Journal Title

      Sexual Development

      Volume: 10 Issue: 1 Pages: 1-4

    • DOI

      10.1159/000444938

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26860837, KAKENHI-PROJECT-26870887, KAKENHI-PROJECT-16K09979
  • [Journal Article] Copy-Number Variations of the Azoospermia Factor Region or SRY Are Not Associated with the Risk of Hypospadias2016

    • Author(s)
      Kon M, Saito K, Mitsui T, Miyado M, Igarashi M, Moriya K, Nonomura K, Shinohara N, Ogata T, Fukami M
    • Journal Title

      Sex Dev

      Volume: 未定

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Journal Article] Extra-adrenal induction of <i>Cyp21a1</i> ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia2016

    • Author(s)
      Naiki Y, Miyado M, Horikawa R, Katsumata N, Onodera M, Pang S, Ogata T and Fukami M.
    • Journal Title

      Endocr J

      Volume: 63 Issue: 10 Pages: 897-904

    • DOI

      10.1507/endocrj.EJ16-0112

    • NAID

      130005267899

    • ISSN
      0918-8959, 1348-4540
    • Language
      English
    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K08603, KAKENHI-PROJECT-16K10005
  • [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] 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] Hypogonadotropic hypogonadism in a female patient previously diagnosed as having Waardenburg syndrome due to a SOX10 mutation.2015

    • 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: 未定

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Journal Article] Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias2015

    • Author(s)
      Igarashi M, Wada Y, Kojima Y, Miyado M, Nakamura M, Muroya K, Mizuno K, Hayashi Y, Nonomura K, Kohri K, Ogata T, Fukami M
    • Journal Title

      Sex Dev

      Volume: 未定

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26293224
  • [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: 未定

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-25670173
  • [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] 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] 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] 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] 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] 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: 未定

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-26293224
  • [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] 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] 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] 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] 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] 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] 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] 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: 未定

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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] 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] 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] 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] 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] 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

    • NAID

      130004720753

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Journal Article] Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency2013

    • Author(s)
      Fukami M, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S,Ogata T.
    • Journal Title

      Endocrine J

      Volume: 未定

    • NAID

      10031195771

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Journal Article] Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency2013

    • 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(8) Pages: 1013-1020

    • NAID

      10031195771

    • Data Source
      KAKENHI-PROJECT-23390249
  • [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] 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] 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] Lack of Genomic Rearrangements Involving the Aromatase Gene CYP19A1 in Breast Cancer2013

    • Author(s)
      Fukami M, Suzuki J, Nakabayashi K, Tsunasima R, Ogata T, Shozu M, Noguchi S.
    • Journal Title

      Breast cancer

      Volume: 未定

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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] A 68-year-old phenotypically male patient with 21 -hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol2013

    • 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 (2) Pages: 75-84

    • NAID

      130004720753

    • Data Source
      KAKENHI-PROJECT-23390249
  • [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] 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] 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] 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] アロマターゼ過剰症候群2012

    • Author(s)
      深見真紀
    • Journal Title

      内科

      Volume: 109(印刷中)

    • Data Source
      KAKENHI-PROJECT-23390249
  • [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] Mamld1 deficiency significantly reduces mRNA expression levels of multiple genes expressed in mouse fetal Leydig cells but permits normal genital and reproductive development2012

    • Author(s)
      Miyado M, Nakamura M, Miyado K, Morohashi K, Sano S, Nagata E, Fukami M, Ogata T
    • Journal Title

      Endocrinology

      Volume: 153(12) Issue: 12 Pages: 6033-6040

    • DOI

      10.1210/en.2012-1324

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-21112006, KAKENHI-PROJECT-23390249, KAKENHI-PROJECT-23659788, KAKENHI-PROJECT-24790303, KAKENHI-PLANNED-22132002
  • [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] アロマターゼ過剰症候群内科2012

    • Author(s)
      深見真紀
    • Journal Title

      1 09 (6

      Volume: 109 (6)

    • Data Source
      KAKENHI-PROJECT-23390249
  • [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] PRKAR1A mutation affecting cAMP-mediated G-protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance2012

    • 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) Issue: 9 Pages: E1808-E1813

    • DOI

      10.1210/jc.2012-1369

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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] 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] 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] 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] 最近話題の遺伝子異常による内分泌および類縁疾患.性分化疾患2011

    • Author(s)
      深見真紀
    • Journal Title

      ホルモンと臨床 58(印刷中)

      Pages: 7-7

    • Data Source
      KAKENHI-PROJECT-20390265
  • [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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] Cytochrome P450 Oxidoreductase Deficiency : Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients2009

    • Author(s)
      深見真紀, et al
    • Journal Title

      Journal of Clinical Endocrinology and Metabolism 94

      Pages: 1723-31

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390265
  • [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] 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] 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] 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] 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2009

    • Author(s)
      深見真紀、和田友香, 他
    • Journal Title

      ホルモンと臨床 (印刷中)

    • Data Source
      KAKENHI-PROJECT-20390265
  • [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] 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] 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] 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] 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] 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 Chem29 283(9)

      Pages: 5525-32

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] Mastermind-like domain-containing 1(MAMLD1 or CXorf6)transactivates the Hes3 promoter, augments testosterone production, and contains the SFI target sequence2008

    • Author(s)
      Fukami M, Ogata T., et. al.
    • Journal Title

      J Biol Chem 283(9)

      Pages: 5525-5532

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] 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] 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] 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, Ogata T., et. al.
    • Journal Title

      J Biol Chem. 283(9)

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591178
  • [Journal Article] Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency : implication for the backdoor pathway to dihydrotestosterone.2006

    • Author(s)
      Homma K, Hasegawa T, Fukami M et al.
    • Journal Title

      Journal of Clinical Endocrinology and Metabolism 91(7)

      Pages: 2643-2649

    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1.2006

    • Author(s)
      Wada Y, Fukami M, et. al.
    • Journal Title

      Fertil Steril 85(3)

      Pages: 787-790

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] POR deficiency. (in Japanese)2006

    • Author(s)
      Ogata T, Homma K, Fukami M.
    • Journal Title

      Clinical Endocrinology 54

      Pages: 523-530

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] P450 oxidoreductase (POR) 遺伝子異常症.2006

    • Author(s)
      緒方勤、本間桂子、深見真紀
    • Journal Title

      ホルモンと臨床 54

      Pages: 523-530

    • NAID

      10019247927

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] Molecular and clinical analysis on 17 patients with POR deficiency. (in Japanese)2006

    • Author(s)
      Fukami M, Ogata T.
    • Journal Title

      Clinical Endocrinology 54

      Pages: 167-175

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [Journal Article] Cytochrome P450 oxidoreductase (POR) 異常症患者13家系17例における分子遺伝学的および臨床的解析.2006

    • Author(s)
      深見真紀, 緒方勤
    • Journal Title

      ホルモンと臨床増刊号 54

      Pages: 167-172

    • NAID

      10020295558

    • Data Source
      KAKENHI-PROJECT-18591178
  • [Journal Article] Cytochrome P450 oxidoreductase (POR) 異常症患者13家系17例における分子遺伝学的および臨床的解析.2006

    • Author(s)
      深見真紀、緒方勤
    • Journal Title

      ホルモンと臨床増刊号 54

      Pages: 167-172

    • NAID

      10020295558

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [Journal Article] P450 oxidoreductase (POR) 遺伝子異常症.2006

    • Author(s)
      緒方勤, 本間桂子, 深見真紀
    • Journal Title

      ホルモンと臨床 54 : 65-75,2006 54

      Pages: 65-75

    • NAID

      10019247927

    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1.2006

    • Author(s)
      Wada Y, Fukami M et al.
    • Journal Title

      Fertil Steril 85(3)

      Pages: 787-790

    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.2006

    • Author(s)
      Homma K, Hasegawa T, Fukami M, et. al.
    • Journal Title

      J Clin Endocrinol Metab 91(7)

      Pages: 2643-2649

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1.2006

    • Author(s)
      Wada Y, Okada M, Fukami M, Sasagawa I, Ogata T.
    • Journal Title

      Fertil Steril 85(3)

      Pages: 787-790

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [Journal Article] Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency : implication for the backdoor pathway to dihydrotestosterone.2006

    • Author(s)
      Homma K, Hasegawa T, Nagai T, Adachi M, Horikawa R, Fujiwara I, Tajima T, Takeda R, Fukami M, Ogata T.
    • Journal Title

      J Clin Endocrinol Metab 91(7)

      Pages: 2643-9

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] 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] 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] 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] 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 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] Clinical lessons from SHOX mutation research

    • Author(s)
      Ogata T, Fukami M
    • Journal Title

      International Growth Monitor (In press)

    • Data Source
      KAKENHI-PROJECT-17591132
  • [Presentation] ヒトの性と性染色体の新知見2024

    • Author(s)
      深見真紀
    • Organizer
      第37回秋田県排尿・生殖研究会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21H02464
  • [Presentation] ヒトの性と性染色体の新知見2024

    • Author(s)
      深見真紀
    • Organizer
      第37回秋田県排尿・生殖研究会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K19283
  • [Presentation] Human Sex Chromosomes and Environmental Conditions2023

    • Author(s)
      深見真紀
    • Organizer
      第50回日本毒性学会学術年会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K19283
  • [Presentation] 21水酸化酵素欠損症に対するAAVベクターでの遺伝子治療モデルにおける補酵素遺伝子混合投与の効果2023

    • Author(s)
      内木康博、宮戸真美、堀川玲子、高田修治、勝又規行、深見真紀
    • Organizer
      第98回日本内分泌学会学術集会
    • Data Source
      KAKENHI-PROJECT-22K07950
  • [Presentation] Effect of a coenzyme in gene therapy for 21-hydeoxylase deficiency with AAV vectors into a model mouse2023

    • Author(s)
      Yasuhiro Naiki, Mami Miyado, Reiko Horikawa, Noriyuki Katsumata, Maki Fukami
    • Organizer
      International meeting of Pediatric Endocrinology 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K07950
  • [Presentation] ヒト性研究の最前線2023

    • Author(s)
      深見真紀
    • Organizer
      第96回日本内分泌学会学術総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K19283
  • [Presentation] Effects of coenzymes in gene therapy for congenital adrenal hyperplasia with AAV vectors into model mice2023

    • Author(s)
      Yasuhiro Naiki, Mami Miyado, Reiko Horikawa, Noriyuki Katsumata, Shuji Takada, Maki Fukami
    • Organizer
      Annual meeting of the Endocrine Society 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K07950
  • [Presentation] Effect of a coenzyme in gene therapy for 21-hydroxylase deficiency with AAV vector into a model mouse2023

    • Author(s)
      Naiki Y, Miyado M, Horikawa R, Katsumata N, Fukami M
    • Organizer
      International meeting of Pediatric Endocrinology 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K07950
  • [Presentation] ヒトの性の多様性2022

    • Author(s)
      深見真紀
    • Organizer
      JCR GD&DSDセミナーin関西
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] AAVベクターによる11β水酸化酵素欠損症の遺伝子治療モデル作成2022

    • Author(s)
      内木康博、宮戸真美、堀川玲子、阿久津英憲、勝又規行、深見真紀
    • Organizer
      第95回日本小児内分泌学会学術集会
    • Data Source
      KAKENHI-PROJECT-22K07950
  • [Presentation] 性の新知見:性スペクトラム2022

    • Author(s)
      深見真紀
    • Organizer
      NIHS特別講演会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21H02464
  • [Presentation] ヒト性染色体の新知見2022

    • Author(s)
      深見真紀
    • Organizer
      第5回Chube Cytogenitics Conference
    • Invited
    • Data Source
      KAKENHI-PROJECT-21H02464
  • [Presentation] ヒトの性の多様性2022

    • Author(s)
      深見真紀
    • Organizer
      GD&DSDセミナーin関西
    • Invited
    • Data Source
      KAKENHI-PROJECT-21H02464
  • [Presentation] 性の新知見:性スペクトラム2022

    • Author(s)
      深見真紀
    • Organizer
      NIHS特別講演会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] ヒト染色体の新知見2022

    • Author(s)
      深見真紀
    • Organizer
      第18回北関東遺伝診療フォーラム
    • Invited
    • Data Source
      KAKENHI-PROJECT-21H02464
  • [Presentation] ヒト性の新知見2022

    • Author(s)
      深見真紀
    • Organizer
      第40回受精着床学会総会・学術講演会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21H02464
  • [Presentation] 性分化疾患の性ホルモン補充。 クリニカルアワー2022

    • Author(s)
      深見真紀
    • Organizer
      日本内分泌学会学術総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K19283
  • [Presentation] Gene therapy for CAH with AAV vectors into fibroblasts, iPS cells and model mice2022

    • Author(s)
      Naiki Y, Miyado M, Horikawa R, Katsumata N, Takada S, Akutsu H, Onodeara M, Fukami M
    • Organizer
      ENDO2022
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K07950
  • [Presentation] 性の新知見:性スペクトラム2022

    • Author(s)
      深見真紀
    • Organizer
      NIHS特別講演会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K19283
  • [Presentation] ヒト性の新知見2022

    • Author(s)
      深見真紀
    • Organizer
      第40回受精着床学会総会・学術講演会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K19283
  • [Presentation] Y染色体と男性力2021

    • Author(s)
      深見真紀
    • Organizer
      日本アンドロロジー学会第40回学術大会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] ヒト生殖と染色体のトピックス2021

    • Author(s)
      深見真紀
    • Organizer
      第5回ART Japan生殖医療研究会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] Y染色体と男性力2021

    • Author(s)
      深見真紀
    • Organizer
      日本アンドロロジー学会第40回学術大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21H02464
  • [Presentation] ヒト生殖と染色体のトピックス2021

    • Author(s)
      深見真紀
    • Organizer
      第5回ART Japan生殖医療研究会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21H02464
  • [Presentation] ヒトの性分化2020

    • Author(s)
      深見真紀
    • Organizer
      人類遺伝学会専門医セミナー
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] 性分化疾患の分子メカニズム2020

    • Author(s)
      深見真紀
    • Organizer
      第93回日本内分泌学会学術総会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [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] 性分化疾患に関与する遺伝的因子と環境因子update2019

    • Author(s)
      深見真紀
    • Organizer
      第8回日本DOHaD学会学術集会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] 低身長を招く遺伝学的異常のトピックス2019

    • Author(s)
      深見真紀
    • Organizer
      第33回 東北成長障害・成長因子研究会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] ヒトの性成熟の分子基盤2019

    • Author(s)
      深見真紀
    • Organizer
      第37回内分泌代謝学サマーセミナー
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] 性成熟疾患の分子基盤2019

    • Author(s)
      深見真紀
    • Organizer
      第92回 日本内分泌学会学術総会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [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] 日常診療に役立つ遺伝学の基礎知識:低身長をモデルとして2019

    • Author(s)
      深見真紀
    • Organizer
      秋田内分泌懇話会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] New aspects in human sex development.2019

    • Author(s)
      Fukami M
    • Organizer
      Pediatric Academic Societies Meeting
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H03616
  • [Presentation] 小児内分泌疾患遺伝子診断の現況2019

    • Author(s)
      深見真紀
    • Organizer
      第53回日本小児内分泌学会学術集会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] ヒトの性の新知見2019

    • Author(s)
      深見真紀
    • Organizer
      第41回北海道小児内分泌研究会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17H03616
  • [Presentation] New aspects in human sex development2019

    • Author(s)
      Fukami M
    • Organizer
      Pediatric Academic Societies Meeting
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] Delayed puberty2018

    • Author(s)
      Fukami M
    • Organizer
      16th Asia-Oceania Congress of Endocrinology
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] Molecular basis of disorders of sex development2018

    • Author(s)
      Fukami M
    • Organizer
      16th Asia-Oceania Congress of Endocrinology
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] MAP3K1遺伝子のナンセンス随伴スプライス変更による46,XY性分化疾患の発症2018

    • Author(s)
      五十嵐麻希、金城健一、中尾美奈子、宮戸真美、堀川玲子、 緒方勤、 深見真紀
    • Organizer
      性スペクトラムー連続する表現型としての雌雄 第2 回領域会議
    • Data Source
      KAKENHI-PROJECT-16K09979
  • [Presentation] 46,XY性分化疾患の分子基盤2018

    • Author(s)
      深見真紀
    • Organizer
      第88回日本衛生学会学術総会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] Molecular basis of disorders of sex development In: Meet-the-Expert session.2018

    • Author(s)
      Fukami M
    • Organizer
      16th Asia-Oceania Congress of Endocrinology
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H03616
  • [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] Y染色体とMen’s health.2018

    • Author(s)
      深見真紀
    • Organizer
      泌尿器抗加齢医学研究会第10回研究会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17H03616
  • [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] Y染色体とMen’s health.2018

    • Author(s)
      深見真紀
    • Organizer
      泌尿器抗加齢医学研究会第10回研究会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] SHOX異常症の診断update2018

    • Author(s)
      深見真紀
    • Organizer
      PEDフォーラム
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] 遺伝子から見たMen’s health2018

    • Author(s)
      深見真紀
    • Organizer
      日本内分泌学会関東甲信支部学術集会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] ヒトの性の再定義2018

    • Author(s)
      深見真紀
    • Organizer
      第91回日本内分泌学会学術集会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] 次世代シークエンサーを用いた1型糖尿病感受性因子の探索2018

    • Author(s)
      深見真紀
    • Organizer
      第61回日本糖尿病学会年次学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-16K15491
  • [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] 先天性内分泌疾患診療における遺伝学的検査Update。2017

    • Author(s)
      深見真紀
    • Organizer
      第27回臨床内分泌update
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] 成長障害の分子基盤:ゲノム疾患としてのSHOX異常症2017

    • Author(s)
      深見真紀
    • Organizer
      第90回日本内分泌学会学術総会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17H03616
  • [Presentation] 染色体構造異常・片親性ダイソミーと疾患 内分泌疾患をモデルとして2017

    • Author(s)
      深見真紀
    • Organizer
      日本人類遺伝学会第62回大会
    • Invited
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] NR5A1ミスセンス変異p.R92Wは、ヒトとマウスに共通する46,XY精巣形成不全とヒト特異的46,XX精巣形成を招く2017

    • Author(s)
      宮戸真美, 乾雅史, 五十嵐麻希, 福井由宇子, 玉野萌恵, 宮戸健二, 緒方勤, 高田修治, 深見真紀
    • Organizer
      第21回日本生殖内分泌学会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-16K09979
  • [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] 染色体構造異常・片親性ダイソミーと疾患2017

    • Author(s)
      深見真紀
    • Organizer
      日本人類遺伝学会第62回大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-17H03616
  • [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] Nonsense-associated altered splicing leading to a human disorder: Identification of MAP3K1 mutations in two brothers with 46,XY disorders of sex development2017

    • Author(s)
      五十嵐麻希、金城健一、堀川玲子、緒方勤、深見真紀
    • Organizer
      第40回日本分子生物学会年会
    • Data Source
      KAKENHI-PROJECT-16K09979
  • [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] 1B型糖尿病発症における単一遺伝子変異の寄与の解明2017

    • Author(s)
      牛嶋規久美, 深見真紀, 綾部匡之, 奥野美佐子, 鳴海覚志, 緒方勤, 菊池信行, 菊池透, 川村智行, 浦上達彦, 横田一郎, 雨宮伸, 杉原茂孝
    • Organizer
      第90回日本内分泌学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K15491
  • [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] Molecular basis of disorders of sex development.2017

    • Author(s)
      Fukami M
    • Organizer
      7th Gonad Biology Joint Meeting
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-17H06428
  • [Presentation] 若年発症1B型糖尿病家系で同定した新規KLF11変異について-KLF11変異の表現型スペクトラムの拡張2017

    • Author(s)
      牛嶋規久美, 深見真紀, 鳴海覚志, 緒方勤, 浦上達彦, 横田一郎, 菊池信行, 菊池透, 雨宮伸, 杉原茂孝, 川村智行
    • Organizer
      第51回日本小児内分泌学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K15491
  • [Presentation] 46,XY性分化疾患兄弟例におけるMAP3K1変異の同定2017

    • Author(s)
      五十嵐麻希、金城健一、堀川玲子、緒方勤、深見真紀
    • Organizer
      日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-16K09979
  • [Presentation] NR5A1は、46,XX精巣性性分化疾患の新規発症責任遺伝子である.2016

    • Author(s)
      五十嵐麻希, 高澤啓, 箱田明子, 菅野潤子, 高田修治, 乾雅史, 宮戸真美, 福井由宇子, 鳴海覚志, 田島敏広, 秦健一郎, 中林一彦, 松原洋一, 緒方勤, 鹿島田健一,深見真紀
    • Organizer
      第39回日本分子生物学会年会
    • Place of Presentation
      神奈川
    • Data Source
      KAKENHI-PROJECT-16K09979
  • [Presentation] NR0B1 Frameshift Mutation in a Boy with Precocious Puberty and Normal Adrenal Function.2016

    • Author(s)
      Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Ogata T, Narumi S, Fukami M.
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
    • Place of Presentation
      東京
    • Year and Date
      2016-11-18
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Presentation] 内分泌疾患の原因となる新たなGタンパク共役型受容体機能亢進メカニズムの解明.2016

    • Author(s)
      鈴木江莉奈, 泉陽子, 鳥居知宏, 五十嵐麻希, 宮戸真美, 勝見桃理, 鳴海覚志, 山内淳司, 藤澤泰子, 緒方勤, 深見真紀
    • Organizer
      第50回日本小児内分泌学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-16K09979
  • [Presentation] Nucleotide substitutions in CD101, the human homolog of diabetes mellitus susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes mellitus2016

    • Author(s)
      Okuno M, Kasahara Y, Takubo N, Okajima M, Suga S, Suzuki J, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Ogata T, Fukami M, Sugihara S
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
    • Place of Presentation
      東京
    • Year and Date
      2016-11-19
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15491
  • [Presentation] Sequence Variations in Genes of the GH-IGF-1 Axis in Children with Idiopathic Short Stature.2016

    • Author(s)
      Hattori A, Katoh-Fukui Y, Matsubara K, Igarashi M, Suzuki E, Nakamura A, Tanaka H, Nagasaki K, Muroya K, Horikawa R, Ida S, Tanaka T, Kamimaki T, Mitani M, Ogata T, Fukami M
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
    • Place of Presentation
      東京
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09979
  • [Presentation] Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.2016

    • Author(s)
      Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Tajima T, Sekido R, Ogata T, Kashimada K, Fukami M.
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society,
    • Place of Presentation
      東京
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K09979
  • [Presentation] X chromosomal deletion due to microhomology-mediated break-induced replication in a boy with Xp22.3 contiguous gene deletion syndrome: Implications for novel genomic defects leading to Kallmann Syndrome.2016

    • Author(s)
      Nagai K, Shima H, Kamimura M, Kanno J, Fujiwara I, Suzuki E, Narumi S, Ishiguro A, Fukami M.
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
    • Place of Presentation
      東京
    • Year and Date
      2016-11-18
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Presentation] ucleotide substitutions in CD101, the human homolog of diabetes mellitus susceptibility gene in non-obese diabetic mouse, in patients with type 1 diabetes mellitus.2016

    • Author(s)
      Okuno M, Kasahara Y, Takubo N, Okajima M, Suga S, Suzuki J, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Ogata T, Fukami M, Sugihara S.
    • Organizer
      42th Annual Conference of the International Society for Pediatrics and Adolescent Diabetes
    • Place of Presentation
      Spain
    • Year and Date
      2016-10-27
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15491
  • [Presentation] Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.2016

    • Author(s)
      Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Tajima T, Sekido R, Ogata T, Kashimada K, Fukami M.
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
    • Place of Presentation
      東京
    • Year and Date
      2016-11-18
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Presentation] Next-generation sequencing-based comprehensive mutation screening in 89 Japanese children clinically diagnosed with type 1B diabetes2016

    • Author(s)
      Ushijima K, Fukami M, Ayabe T, Okuno M, Narumi S, Ogata T, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Yokota I, Amemiya S, Sugihara S
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
    • Place of Presentation
      東京
    • Year and Date
      2016-11-18
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15491
  • [Presentation] Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.2016

    • Author(s)
      Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Tajima T, Sekido R, Ogata T, Kashimada K, Fukami M
    • Organizer
      第50回日本小児内分泌学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-16K09979
  • [Presentation] NR5A1は、46,XX精巣性性分化疾患の新規発症責任遺伝子である2016

    • Author(s)
      五十嵐麻希, 高澤啓, 箱田明子, 菅野潤子, 高田修治, 乾雅史, 宮戸真美, 福井由宇子, 田島敏広, 秦健一郎, 中林一彦, 松原洋一, 緒方勤, 鹿島田健一,深見真紀
    • Organizer
      第39回日本小児遺伝学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-16K09979
  • [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
      2015-04-25
    • Data Source
      KAKENHI-PROJECT-26293224
  • [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、瀬尾美鈴、佐藤直子、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-26293224
  • [Presentation] 性分化疾患の遺伝子診断と遺伝カウンセリング2015

    • Author(s)
      深見真紀
    • Organizer
      第68回福井臨床遺伝研究会
    • Place of Presentation
      福井
    • Year and Date
      2015-07-27
    • Invited
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Presentation] 性分化疾患の遺伝子診断2015

    • Author(s)
      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
      2015-04-25
    • Invited
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Presentation] 難聴と虹彩色素脱出を伴うKallmann症候群患者におけるSOX10機能喪失変異の同定2015

    • Author(s)
      鈴木江莉奈、泉陽子、千葉悠太、堀川玲子、内木康博、緒方勤、深見真紀
    • Organizer
      第49回日本小児内分泌学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2015-10-08
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Presentation] Systematic mutation analysis of patients with disorders of sex development2015

    • Author(s)
      Igarashi M, Izumi Y, Kon M, Kato-Fukui Y, Suzuki E, Wada Y, Miyado M, Ogata T, Fukami M
    • Organizer
      Seventh international symposium in the biology of vertebrate sex determination
    • Place of Presentation
      Hawai
    • Year and Date
      2015-04-15
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Presentation] 性分化疾患2015

    • Author(s)
      深見真紀
    • Organizer
      第49回日本小児内分泌学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2015-10-09
    • Invited
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Presentation] 先天性疾患の遺伝子診断2014

    • Author(s)
      深見真紀
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      船堀
    • Year and Date
      2014-11-22
    • Invited
    • Data Source
      KAKENHI-PROJECT-26293224
  • [Presentation] 性分化疾患の遺伝子診断2014

    • Author(s)
      深見真紀
    • Organizer
      第23回臨床内分泌代謝Update
    • Place of Presentation
      名古屋
    • Year and Date
      2014-01-25
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] 内分泌疾患のゲノムコピー数解析2013

    • Author(s)
      深見真紀
    • Organizer
      第86回日本内分泌学会学術総会シンポジウム
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] Molecular diagnosis and management of hereditary gynecomastia.2013

    • Author(s)
      Fukami M
    • Organizer
      The 9th Joint meeting of pediatric endocrinology,
    • Place of Presentation
      Milan
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] POR欠損症の分子基盤と臨床像2013

    • Author(s)
      深見真紀
    • Organizer
      第21回日本ステロイドホルモン学会学術集会
    • Place of Presentation
      大阪
    • Year and Date
      2013-11-16
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] Molecular diagnosis and management of hereditary gynecomastia. In : Meet-the-expert session2013

    • Author(s)
      Fukami M
    • Organizer
      The 9th Joint meeting of pediatric endocrinology
    • Place of Presentation
      Milan
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] Molecular diagnosis and management of hereditary gynecomastia.2013

    • Author(s)
      Fukami M
    • Organizer
      The 9th Joint meeting of pediatric endocrinology,
    • Place of Presentation
      Milan
    • Invited
    • Data Source
      KAKENHI-PROJECT-25670173
  • [Presentation] 新規遺伝子解析技術を用いたヒト性分化疾患・性成熟疾患の病因解析2013

    • Author(s)
      深見真紀
    • Organizer
      日本アンドロロジー学会第32回学術大会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] 小児内分泌疾患の遺伝子解析 : 新規解析技術を用いた疾患成立機序の解明2013

    • Author(s)
      深見真紀
    • Organizer
      第22回小児内分泌代謝フォーラムin九州
    • Place of Presentation
      福岡
    • Year and Date
      2013-07-27
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] 内分泌疾患のゲノムコピー数解析2013

    • Author(s)
      深見真紀
    • Organizer
      第86回日本内分泌学会学術総会 シンポジウム
    • Place of Presentation
      仙台
    • Invited
    • Data Source
      KAKENHI-PROJECT-25670173
  • [Presentation] 内分泌疾患のゲノムコピー数解析2013

    • Author(s)
      深見真紀
    • Organizer
      第86回日本内分泌学会学術総会 シンポジウム
    • Place of Presentation
      仙台
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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,Dung Chi 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
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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,Dung Chi 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
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] POR異常症とは.2012

    • Author(s)
      深見真紀.
    • Organizer
      第12回大阪小児内分泌勉強会
    • Place of Presentation
      大阪
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] アロマターゼ過剰症とゴナドトロピン分泌.2012

    • Author(s)
      深見真紀.
    • Organizer
      日本内分泌学会シンポジウム
    • Place of Presentation
      名古屋
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] Aromatase Excess Syndrome2012

    • Author(s)
      Fukami M
    • Organizer
      6th International Symposium on the Biology of Vertebrate Sex Determination
    • Place of Presentation
      USA
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] Aromatase Excess Syndrome2012

    • Author(s)
      Fukami M
    • Organizer
      International Symposium on Vertebrate Sex Determination
    • Place of Presentation
      Hawaii
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] POR異常症とは2012

    • Author(s)
      深見真紀
    • Organizer
      第12回大阪小児内分泌勉強会
    • Place of Presentation
      大阪
    • Year and Date
      2012-11-22
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] Silent mutations of androgen receptor gene in two patients with partial androgen insensitivity syndrome.2012

    • Author(s)
      Igarashi M, Kato F, Tsuji Y, Hasegawa Y, Ogata T, Fukami M.
    • Organizer
      6th International Symposium on the Biology of Vertebrate Sex Determination
    • Place of Presentation
      Kona, USA
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] Aromatase Excess Syndrome : Molecular Basis and Phenotypic Determinants. In : Topic Symposium2012

    • Author(s)
      Fukami M
    • Organizer
      Annual Meeting of Pediatric Academic Societies
    • Place of Presentation
      Boston
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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, Dung Chi 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
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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,Dung Chi Vu,小島祥敬,堀川玲子,緒方勤,深見真紀.
    • Organizer
      第35回日本分子生物学会
    • Place of Presentation
      福岡
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] 精巣における男性ホルモン産生制御機構 : MAMLD1変異陽性患者とノックアウトマウスからの知見2012

    • Author(s)
      宮戸真美, 緒方勤, 深見真紀
    • Organizer
      第35回日本分子生物学会ワークショップ
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] 男性における乳房腫大(女性化乳房).2012

    • Author(s)
      深見真紀.
    • Organizer
      第46回小児内分泌学会
    • Place of Presentation
      大阪
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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, Dung Chi Vu, 小島祥敬, 堀川玲子, 緒方勤, 深見真紀
    • Organizer
      第35回日本分子生物学会ワークショップ
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] アロマターゼ過剰症とゴナドトロピン分泌2012

    • Author(s)
      深見真紀
    • Organizer
      日本内分泌学会シンポジウム
    • Place of Presentation
      名古屋
    • Year and Date
      2012-06-26
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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, Dung Chi 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
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] Silent mutations of androgen receptor gene in two patients with partial androgen insensitivity syndrome2012

    • Author(s)
      Igarashi M, Kato F, Tsuji Y, Hasegawa Y, Ogata T, Fukami M
    • Organizer
      6th International Symposium on the Biology of Vertebrate Sex Determination
    • Place of Presentation
      USA
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] Aromatase Excess Syndrome: Molecular Basis and Phenotypic Determinants.2012

    • Author(s)
      Fukami M.
    • Organizer
      Annual Meeting of Pediatric Academic Societies
    • Place of Presentation
      Boston, USA
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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, 阿部修司, 山本幸代, 金城さおり , 緒方勤
    • Organizer
      第46回小児内分泌学会とっておきの症例
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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] 精巣における男性ホルモン産生制御機構:MAMLD1変異陽性患者とノックアウトマウスからの知見.2012

    • Author(s)
      宮戸真美,緒方勤,深見真紀
    • Organizer
      第35回日本分子生物学会
    • Place of Presentation
      福岡
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [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] MAMLD1 mutations : how do they lead to hypospadias?2010

    • Author(s)
      Fukami M
    • Organizer
      International Symposium on Pediatric Endocrinology.
    • Place of Presentation
      Tokyo
    • Data Source
      KAKENHI-PROJECT-20390265
  • [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2010

    • Author(s)
      宮戸真美、深見真紀, 他
    • Organizer
      第43回日本小児内分泌学会
    • Place of Presentation
      宇都宮
    • Year and Date
      2010-10-01
    • Data Source
      KAKENHI-PROJECT-20390265
  • [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] 小児内分泌疾患の分子診断2010

    • Author(s)
      深見真紀
    • Organizer
      第142回染色体研究会
    • Place of Presentation
      東京
    • Year and Date
      2010-06-11
    • Data Source
      KAKENHI-PROJECT-20390265
  • [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] 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] 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] MAMLD1異常症:新規変異の同定と変異陽性患者の表現型2010

    • Author(s)
      加藤芙弥子、深見真紀, 他
    • Organizer
      第43回日本小児内分泌学会
    • Place of Presentation
      宇都宮
    • Year and Date
      2010-10-02
    • Data Source
      KAKENHI-PROJECT-20390265
  • [Presentation] MAMLD1 mutations : how do they lead to hypospadias?2010

    • Author(s)
      深見真紀
    • Organizer
      International Symposium on Pediatric Endocrinology.
    • Place of Presentation
      Tokyo, Japan
    • Data Source
      KAKENHI-PROJECT-20390265
  • [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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 性ステロイド産生障害を招く新規遺伝子疾患2008

    • Author(s)
      深見真紀
    • Organizer
      第81回日本内分泌学会学術総会
    • Place of Presentation
      青森
    • Year and Date
      2008-05-17
    • Data Source
      KAKENHI-PROJECT-20390265
  • [Presentation] Genotype-Phenotype correlations in 29 patients with POR deficiency: Implications for the presence of the "backdoor pathway"2008

    • Author(s)
      Fukami M, et. al.
    • Organizer
      17th Clinical Endocrinology Update
    • Place of Presentation
      Tokyo, Japan
    • Year and Date
      2008-03-10
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [Presentation] 新規尿道下裂発症責任遺伝子MAMLD1(CXorf6)の同定と機能解析2008

    • Author(s)
      深見真紀
    • Organizer
      第53回日本人類遺伝学会
    • Place of Presentation
      横浜
    • Year and Date
      2008-09-29
    • Data Source
      KAKENHI-PROJECT-20390265
  • [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] 日本人類遺伝学会奨励賞受賞講演:新規尿道下裂発症責任遺伝子MAMLD1 (CXorf6)の同定と機能解析2008

    • Author(s)
      深見真紀
    • Organizer
      第53回日本人類遺伝学会
    • 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
    • Organizer
      第42回日本小児内分泌学会学術総会
    • Place of Presentation
      米子
    • Year and Date
      2008-10-02
    • Data Source
      KAKENHI-PROJECT-20390265
  • [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] POR異常症:29例における遺伝子型-表現型解析と臨床スペクトラムの検討2007

    • Author(s)
      深見真紀, 他
    • Organizer
      第41回日本小児内分泌学会
    • Place of Presentation
      横浜
    • Year and Date
      2007-11-07
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] POR異常症における表現型の決定因子:遺伝子型と胎児期特異的男性ホルモン産生経路(backdoor pathway)2007

    • Author(s)
      深見真紀, 他
    • Organizer
      第17回臨床内分泌代謝Updateクリニカルアワー
    • Place of Presentation
      東京
    • Year and Date
      2007-03-10
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] The Novel Hypospadias Gene CXorf6 Transactivates the Promoter of a Non-Canonical Notch Target Gene Hes3 and Contains the Target Sequence for SF-12007

    • Author(s)
      Fukami M, et. al.
    • Organizer
      Endocrine society's 89th annual meeting.
    • Place of Presentation
      Toronto, Canada
    • Year and Date
      2007-06-02
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] Genotype-Phenotype correlations in 29 patients with POR deficiency.2007

    • Author(s)
      Fukami M, et. al.
    • Organizer
      49th annual meeting of Japanese society of pediatric endocrinology
    • Place of Presentation
      Yokohama, Japan
    • Year and Date
      2007-11-07
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] 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] The Novel Hypospadias Gene CXorf6 Transactivates the Promoter of a Non-Canonical Notch Target Gene Hes3 and Contains the Target Sequence for SF-12007

    • Author(s)
      Fukami M, et. al.
    • Organizer
      Endocrine society's 89^<th> annual meeting
    • Place of Presentation
      Toronto (Canada)
    • Year and Date
      2007-06-02
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18591178
  • [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] The Novel Hypospadias Gene CXorf6 Transactivates the Promoter of a Non-CanonicalNotch Target Gene He s3 and Contains the Target Sequence for SF-12007

    • Author(s)
      Fukami M, et. al.
    • Organizer
      Endocrine society's 89th annual meeting
    • Place of Presentation
      Toronto(Canada)
    • Year and Date
      2007-06-02
    • Data Source
      KAKENHI-PROJECT-18591178
  • [Presentation] 新規遺伝子解析技術を用いたヒト性分化疾患・性成熟疾患の病因解析

    • Author(s)
      深見真紀
    • Organizer
      日本アンドロロジー学会第32回学術大会.教育講演.
    • Place of Presentation
      大阪
    • Invited
    • Data Source
      KAKENHI-PROJECT-25670173
  • [Presentation] Cytochrome P450 oxidoreductase deficiency : identification and characterization of biallelic mutations and genotype-phenotype correlation in 35 Japanese patients

    • Author(s)
      深見真紀, et al
    • 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] New aspects of congenital adrenal disease(Meet-the-expert session)

    • Author(s)
      深見真紀
    • Organizer
      The 8th Joint Meeting of the Lawson Wilkins Pediatric Endocrine Society/European Society for Pediatric Endocrinology
    • Place of Presentation
      NY, USA
    • Data Source
      KAKENHI-PROJECT-20390265
  • [Presentation] 性分化疾患の遺伝子診断

    • Author(s)
      深見真紀
    • Organizer
      第23回臨床内分泌代謝Update.シンポジウム
    • Place of Presentation
      名古屋
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] 新規遺伝子解析技術を用いたヒト性分化疾患・性成熟疾患の病因解析

    • Author(s)
      深見真紀
    • Organizer
      日本アンドロロジー学会第32回学術大会.教育講演.
    • Place of Presentation
      大阪
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] 小児内分泌疾患の遺伝子解析:新規解析技術を用いた疾患成立機序の解明.

    • Author(s)
      深見真紀
    • Organizer
      第22回小児内分泌代謝フォーラムin九州.
    • Place of Presentation
      福岡
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] POR欠損症の分子基盤と臨床像.

    • Author(s)
      深見真紀
    • Organizer
      第21回日本ステロイドホルモン学会学術集会.シンポジウム
    • Place of Presentation
      大阪
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390249
  • [Presentation] 小児内分泌疾患の遺伝子解析:新規解析技術を用いた疾患成立機序の解明.

    • Author(s)
      深見真紀
    • Organizer
      第22回小児内分泌代謝フォーラムin九州.
    • Place of Presentation
      福岡
    • Invited
    • Data Source
      KAKENHI-PROJECT-25670173
  • [Presentation] 性分化疾患の遺伝子診断.

    • Author(s)
      深見真紀
    • Organizer
      第23回臨床内分泌代謝Update.シンポジウム
    • Place of Presentation
      名古屋
    • Invited
    • Data Source
      KAKENHI-PROJECT-25670173
  • []

  • 1.  OGATA Tsutomu (40169173)
    # of Collaborated Projects: 11 results
    # of Collaborated Products: 235 results
  • 2.  KATSUMATA Noriyuki (10260340)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 2 results
  • 3.  NAIKI Yasuhiro (20470007)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 7 results
  • 4.  WADA Yuka (80399485)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 35 results
  • 5.  KAGAMI Masayo (70399484)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 7 results
  • 6.  IGARASHI Maki (10623035)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 24 results
  • 7.  高田 修治 (20382856)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 9 results
  • 8.  SATO Naoko (10383069)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 11 results
  • 9.  KATO Fumiko (10462798)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 4 results
  • 10.  AYABE Tadayuki (80566555)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 6 results
  • 11.  MATSUO Nobutake (50173802)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 12.  MUROYA Koji (60239556)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 13.  Akutsu Hidenori (50347225)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 14.  小野寺 雅史 (10334062)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 1 results
  • 15.  TSUTSUI Kazuyoshi (20163842)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 16.  SONEDA Shun (10367378)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 17.  ANZO Makoto (80193100)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 18.  SATO Seiji (80146638)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 19.  HASEGAWA Tomonobu (20189533)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 20.  Ohsako Seiichiroh (00274837)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 21.  MIYADO MAMI (00386252)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 21 results
  • 22.  Nagata Eiko (90535569)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 23.  Tachibana Makoto (80303915)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 24.  小島 祥敬 (60305539)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 25.  大久保 範聡 (10370131)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 26.  勝間 進 (20378863)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 27.  諸橋 憲一郎 (30183114)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 28.  菊池 潔 (20292790)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 29.  長尾 恒治 (60426575)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 30.  田中 実 (80202175)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 31.  宮川 信一 (30404354)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 32.  倉橋 浩樹 (30243215)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 33.  小野 裕之 (40868866)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 34.  福田 篤 (00638091)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 35.  中林 一彦 (10415557)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 2 results
  • 36.  佐渡 敬 (70321601)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 37.  小堀 善友 (50566560)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 38.  淺原 弘嗣 (70294460)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 39.  川崎 友之 (90751701)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 40.  OKUNO MISAKO
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 6 results
  • 41.  USHIJIMA KIKUMI
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 6 results
  • 42.  SAWAKI Hamako
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 43.  TAKEDA Yuriko
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 44.  KATOH-FUKUI Yuko
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 6 results
  • 45.  OKADA Hiroshi
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 46.  HOTTA Yoshihiro
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 47.  MORISADA Naoya
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 48.  YAMAZAWA Kazuki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 49.  MATSUBARA Keiko
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 50.  要 匡
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 51.  戸田 達史
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 52.  鈴木 江莉奈
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 4 results
  • 53.  岡村 浩司
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 54.  宮戸 健二
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 55.  藤澤 泰子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 4 results
  • 56.  奥村 彰久
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 57.  岩端 威之
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 58.  長崎 啓祐
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 59.  廣瀬 伸一
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 60.  齋藤 亮
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 61.  井上 隆司
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 62.  佐野 伸一朗
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

URL: 

Are you sure that you want to link your ORCID iD to your KAKEN Researcher profile?
* This action can be performed only by the researcher himself/herself who is listed on the KAKEN Researcher’s page. Are you sure that this KAKEN Researcher’s page is your page?

この研究者とORCID iDの連携を行いますか?
※ この処理は、研究者本人だけが実行できます。

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi