KAGAMI Masayo 鏡雅代

Researcher Number	70399484
Other IDs
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, 室長
Affiliation (based on the past Project Information) *help	2016 – 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, 室長 2017: 国立成育医療研究センター研究所, 分子内分泌研究部, 室長 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, その他 2014 – 2015: (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 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, 室長 … More 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 2012: (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)国立成育医療研究センター, 研究所・分子内分泌研究部, 上級研究員 2011: 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, 上級研究員 2010: National Research Institute for Child Health and Development, 分子内分泌研究部, 上級研究員 2009: National Research Institute for Child Health and Development, 小児思春期発育研究部, 研究員 2008: 国立成育医療センター(研究所), 小児思春期発育研究部, 流動研究員 2008: National Research Institute for Child Health and Development, 思春期発育研究部, 流動研究員 2006: National Research Institute for Child Health and Development, Research Fellow, 研究員 2005 – 2006: 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 Less
Review Section/Research Field	Principal Investigator Human genetics / Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 45010:Genetics-related / Biological Sciences Except Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Human genetics / Basic Section 56040:Obstetrics and gynecology-related / Embryonic/Neonatal medicine / Biological Sciences
Keywords	Principal Investigator インプリンティング / 遺伝子調節 / 胎盤 / エピジェネティクス / インプリンティング異常症 / DNAメチル化 / 肝芽腫 / 成長障害 / インプリンティング疾患 / マイクロRNA … More / 14q32 / 14番染色体 / miRNA / 網羅的メチル化解析 / 網羅的 / アレイ / メチル化解析 / MLID / ゲノムインプリンティング / iPS細胞 / エピ変異 / 生殖補助医療 / 臨床像 … More Except Principal Investigator メチル化 / インプリンティング / ヒドロキシメチル化 / ゲノムインプリンティング / エピジェネティクス / ヒト疾患 / 先天異常症候群 / SHOX / エピ変異 / インプリンティング疾患 / ゲノム / 胎盤 / シルバーラッセル症候群 / 成長障害 / 遺伝学 / Temple 症候群 / Kagami-Ogata症候群 / 疾患iPS細胞 / 胎盤形成異常 / 胎盤オルガノイド / ICR2 / ICR1 / IMAGe症候群 / ICR2(CDKN1C-KvDMR) / ICR1(IGF2-H19DMR) / シルバーラッセル症候群（SRS） / ICR2(KvDMR) / ICR1(H19DMR) / 第11番染色体 / 胎盤低形成 / シルバーラッセル症候群(SRS) / 3' region / Enhancer / Full length cDNA / In silico analysis / Haploinsufficiency / Sex chromosomes / Regulatory seqiuence / in silico / 3'領域 / エンハンサー / 完全長cDNA / in silico解析 / 半量不全 / 性染色体 / 発現調節領域 / AHO徴候 / GNAS-DMRメチル化異常 / ＧＮＡＳ－ＤＭＲメチル化異常 / GNAS遺伝子変異 / ＧＮＡＳ構造異常 / ＧＮＡＳメチル化異常 / ＧＮＡＳ遺伝子 / GNAS / 偽性副甲状腺機能低下症 / iPS細胞 / 発症機序 / 高齢出産 / 生殖補助医療 / 分子生物学的解析 / 個体 / メチル化可変領域 / プロモーター / 遺伝子型-表現型解析 / アロマターゼ過剰症 / POR / 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 / MAMLD1 / 遺伝子機能 / エピゲノム / 性差 / 内分泌制御 / 遺伝的制御 / 性分化疾患 / ヒト疾患解析 / 性差構築 / シルパーラッセル症候群 / 先天奇形症候群 / 人類遺伝学 Less

Elucidation of 5mC/5hmC Profiles and Development of Therapeutic Strategies for Imprinting Disorders
- Principal Investigator
  
  山澤一樹
- Project Period (FY)
  2025 – 2027
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
ヒト胎盤発生モデルによるインプリンティング疾患起因胎盤異常化分子機序の研究
- Principal Investigator
  
  川崎友之
- Project Period (FY)
  2025 – 2027
- 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
インプリンティング異常症エピ変異の病態およびDNAメチル化維持機構の解明Principal Investigator
- Principal Investigator
  
  鏡雅代
- 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
Creation of treatment strategies for imprinting disorders through hydroxymethylation profiling
- Principal Investigator
  
  山澤一樹
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
The role of hydroxymethylation in imprinting diseases caused by abnormal methylation
- Principal Investigator
  
  Yamazawa Kazuki
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
Elucidation of the function of miRNAs at the 14q32.2 imprinted region in the placental development and hepatoblastoma developmentPrincipal Investigator
- Principal Investigator
  
  Kagami Masayo
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 45010:Genetics-related
- Research Institution
  National Center for Child Health and Development
Pathologic clarification and development of new medicine for imprinting disorders in terms of hydroxymethylation
- Principal Investigator
  
  Yamazawa Kazuki
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  独立行政法人国立病院機構(東京医療センター臨床研究センター)
Elucidation of the onset mechanism of human imprinting disorders using the method of methylation analysis with high-density DNA methylation arraysPrincipal Investigator
- Principal Investigator
  
  Kagami Masayo
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Human genetics
- 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
Molecular evolutionary genetics analysis and elucidation of pathogenic mechanism of GNAS related imprinting disease
- Principal Investigator
  
  Sano Shinichiro
- Project Period (FY)
  2014 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Hamamatsu University School of Medicine
  National Center for Child Health and Development
Clarification of (epi)genetic mechanisms involved in the development of human imprinting disorders
- Principal Investigator
  
  Ogata Tsutomu
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Human genetics
- Research Institution
  Hamamatsu University School of Medicine
Paternal uniparental disomy 14 and related conditions: Placental expression analyses and histological examinationPrincipal Investigator
- Principal Investigator
  
  KAGAMI Masayo
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- 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
Clarification of (epi)genetic causes leading to the development of human imprinting disorders
- Principal Investigator
  
  OGATA Tsutomu
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (A)
- Research Field
  
  Human genetics
- Research Institution
  Hamamatsu University School of Medicine
  National Research Institute for Child Health and Development
ヒト生殖系列におけるインプリンティング制御機構の解明Principal Investigator
- Principal Investigator
  
  鏡雅代
- Project Period (FY)
  2009 – 2010
- 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
Elucidation of the pathogenic mechanism and the clinical spectrum of disorders associated with imprinted genes on human chromosome 14Principal Investigator
- Principal Investigator
  
  KAGAMI Masayo
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  National Research Institute for Child Health and Development
Molecular genetic analysis of Silver-Russell syndrome and intrauterine growth retardation
- Principal Investigator
  
  YAMAZAWA Kazuki
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development
Clarification of the genetic mechanisms underlying the regulation for the expression of SHOX, a causative gene for short stature and 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

[Book] エピジェネティクスと病気, インプリント異常症遺伝子医学 MOOK252013
- Author(s)
  鏡雅代
- Publisher
  メディカルドゥ社
- Data Source
  KAKENHI-PROJECT-23390083
[Book] 性染色体異常症.今日の治療指針、第15版2012
- Author(s)
  鏡雅代
- Total Pages
  1
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-23390083
[Book] 今日の治療指針、第15版、2012
- Author(s)
  鏡雅代.
- Publisher
  医学書院
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations2024
- Author(s)
  Nakashima Moeko、Shiroshima Tomoko、Fukaya Masahiro、Sugawara Takeyuki、Sakagami Hiroyuki、Yamazawa Kazuki
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 69 Issue: 3-4 Pages: 119-123
- DOI
  10.1038/s10038-023-01210-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-23K24309
[Journal Article] Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes2024
- Author(s)
  Hattori Atsushi、Seki Atsuhito、Inaba Naoto、Nakabayashi Kazuhiko、Takeda Kazue、Tatsusmi Kuniko、Naiki Yasuhiro、Nakamura Akie、Ishiwata Keisuke、Matsumoto Kenji、Nasu Michiyo、Okamura Kohji、Michigami Toshimi、Katoh-Fukui Yuko、Umezawa Akihiro、Ogata Tsutomu、Kagami Masayo、Fukami Maki
- Journal Title
  
  Scientific Reports
  
  Volume: 14 Issue: 1 Pages: 8069-8069
- DOI
  10.1038/s41598-024-58530-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07858
[Journal Article] (Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B2023
- Author(s)
  Urakawa Tatsuki、Sano Shinichiro、Kawashima Sayaka、Nakamura Akie、Shima Hirohito、Ohta Motoki、Yamada Yuki、Nishida Ai、Narusawa Hiromune、Ohtsu Yoshiaki、Matsubara Keiko、Dateki Sumito、Maruo Yoshihiro、Fukami Maki、Ogata Tsutomu、Kagami Masayo
- Journal Title
  
  European Journal of Endocrinology
  
  Volume: 189 Issue: 6 Pages: 590-600
- DOI
  10.1093/ejendo/lvad163
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08178, KAKENHI-PROJECT-22K07858, KAKENHI-PROJECT-23K07288
[Journal Article] Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR2023
- Author(s)
  Urakawa Tatsuki、Ozawa Junichi、Tanaka Masato、Narusawa Hiromune、Matsuoka Kentaro、Fukami Maki、Nagasaki Keisuke、Kagami Masayo
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 66 Issue: 1 Pages: 104671-104671
- DOI
  10.1016/j.ejmg.2022.104671
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07858
[Journal Article] Imprinting disorders2023
- Author(s)
  Eggermann Thomas、Monk David、de Nanclares Guiomar Perez、Kagami Masayo、Giabicani Elo?se、Riccio Andrea、T?mer Zeynep、Kalish Jennifer M.、Tauber Maith?、Duis Jessica、Weksberg Rosanna、Maher Eamonn R.、Begemann Matthias、Elbracht Miriam
- Journal Title
  
  Nature Reviews Disease Primers
  
  Volume: 9 Issue: 1 Pages: 33-33
- DOI
  10.1038/s41572-023-00443-4
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07858
[Journal Article] Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes2023
- Author(s)
  Hara-Isono Kaori、Matsubara Keiko、Nakamura Akie、Sano Shinichiro、Inoue Takanobu、Kawashima Sayaka、Fuke Tomoko、Yamazawa Kazuki、Fukami Maki、Ogata Tsutomu、Kagami Masayo
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 15 Issue: 1 Pages: 78-78
- DOI
  10.1186/s13148-023-01494-w
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-23K24309, KAKENHI-PROJECT-22K07858
[Journal Article] Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation2022
- Author(s)
  Higashiyama Hiroyuki、Ohsone Yoshiteru、Takatani Rieko、Futatani Takeshi、Kosaki Rika、Kagami Masayo
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 65 Issue: 10 Pages: 104580-104580
- DOI
  10.1016/j.ejmg.2022.104580
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07858
[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] A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B2022
- Author(s)
  Campbell Devon、Reyes Monica、Kaygusuz Sare Betul、Abali Sayg?n、Guran Tulay、Bereket Abdullah、Kagami Masayo、Turan Serap、J?ppner Harald
- Journal Title
  
  Bone
  
  Volume: 157 Pages: 116344-116344
- DOI
  10.1016/j.bone.2022.116344
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07858
[Journal Article] A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR2022
- Author(s)
  Narusawa Hiromune、Sasaki Sunao、Hara-Isono Kaori、Matsubara Keiko、Fukami Maki、Nagasaki Keisuke、Kagami Masayo
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 65 Issue: 6 Pages: 104502-104502
- DOI
  10.1016/j.ejmg.2022.104502
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07858
[Journal Article] Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences2022
- Author(s)
  Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tuemer Z
- Journal Title
  
  Clin Epigenetics
  
  Volume: 14 Issue: 1 Pages: 41-41
- DOI
  10.1186/s13148-022-01259-x
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-22K07858
[Journal Article] First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders2022
- Author(s)
  Mackay Deborah、Bliek Jet、Kagami Masayo et al.
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 14 Issue: 1 Pages: 143-143
- DOI
  10.1186/s13148-022-01358-9
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K07858, KAKENHI-PROJECT-20H00539
[Journal Article] CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inheritedKCNQ1OT1:TSS-DMR2022
- Author(s)
 Hara-Isono Kaori、Yamazawa Kazuki、Tanaka Satsuki、Nishi Eriko、Fukami Maki、Kagami Masayo
- Journal Title
 
 Journal of Medical Genetics
 
 Volume: 59 Issue: 12 Pages: 1241-1246
- DOI
 10.1136/jmg-2022-108700
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-22K07858, KAKENHI-PROJECT-21K19751, KAKENHI-PROJECT-23K24309
[Journal Article] Pathogenic copy number and sequence variants in children born SGA with short stature without imprinting disorders2022
- Author(s)
  Kaori Hara-Isono, Akie Nakamura, Tomoko Fuke, Takanobu Inoue, Sayaka Kawashima, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
- Journal Title
  
  Journal of Clinical Endocrinology & Metabolism
  
  Volume: -
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03628
[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] Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system2022
- Author(s)
  Tomoko Fuke, Akie Nakamura, Takanobu Inoue, Sayaka Kawashima, Kaori Hara-Isono, Keiko Matsubara, Shinichiro Sano, Kazuki Yamazawa, Maki Fukami, Tsutomu Ogata, Masayo Kagami
- Journal Title
  
  Journal of Human Genetics
  
  Volume: -
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19H03628
[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] 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] Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome2020
- Author(s)
  Yamazawa K, Inoue T, Sakemi Y, Nakashima T, Yamashita H, Khono K, Fujita H, Enomoto K, Nakabayashi K, Hata K, Nakashima M, Matsunaga T, Nakamura A, Matsubara K, Ogata T, Kagami M
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: －
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03628
[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] Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients2020
- Author(s)
  Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M
- Journal Title
  
  Clinical Epigenetics
  
  Volume: －
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03628
[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] Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform.2018
- Author(s)
  Mora JRH, Tayama C, Sanchez-Delgado M, Monteagudo-Sanchez A, Hata K, Ogata T, Medrano J, Eugenia Poo-Llanill M, Simón C, Moran S, Esteller M, Tenorio J, Lapunzina P, Kagami M, Monk D, Nakabayashi K
- Journal Title
  
  Epigenomics
  
  Volume: 印刷中
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096
[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] 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] A 3-year-old girl with 46,XX,upd(14)mat/47,XX,+14 mosaicism.2018
- Author(s)
  Ushijima K, Yatsuga S, Nakamura A, Fukami M, Kagami M.
- Journal Title
  
  J Hum Genet.
  
  Volume: 63 Issue: 3 Pages: 377-381
- DOI
  10.1038/s10038-017-0381-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K15096
[Journal Article] Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader-Willi Syndrome: A Case Report.2018
- Author(s)
  Horikawa Y, Enya M, Komagata M, Hashimotoi KI, Kagami M, Fukami M, Takeda J.
- Journal Title
  
  Diabetes Ther.
  
  Volume: 9 Issue: 1 Pages: 421-426
- DOI
  10.1007/s13300-018-0369-5
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096
[Journal Article] Maternal uniparental disomy for chromosome 20: physical and endocrinological characteristics of five patient.2018
- Author(s)
  Kawasima S, Nakmura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fikushima Y, Tatematsu T, Mizuno S. Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M
- Journal Title
  
  J Clin Endocrinol Metab.
  
  Volume: 印刷中
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K15096
[Journal Article] Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome2017
- Author(s)
  Haug Marte G.、Brendehaug Atle、Houge Gunnar、Kagami Masayo、Ogata Tsutomu
- Journal Title
  
  Clin Case Rep
  
  Volume: 6 Issue: 1 Pages: 91-95
- DOI
  10.1002/ccr3.1300
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15K15096
[Journal Article] (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] A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a2017
- Author(s)
 Suzuki Erina、Bo Ryosuke、Sue Kaori、Awano Hiroyuki、Ogata Tsutomu、Narumi Satoshi、Kagami Masayo、Sano Shinichiro、Fukami Maki
- Journal Title
 
 Cytogenetic and Genome Research
 
 Volume: 153 Issue: 3 Pages: 125-130
- DOI
 10.1159/000485644
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-17H03616, KAKENHI-PROJECT-26461537, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-17H04204
[Journal Article] 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] Sustained endocrine profiles of a girl with WAGR syndrome2017
- Author(s)
  Takada Yui、Sakai Yasunari、Matsushita Yuki、Ohkubo Kazuhiro、Koga Yuhki、Akamine Satoshi、Torio Michiko、Ishizaki Yoshito、Sanefuji Masafumi、Torisu Hiroyuki、Shaw Chad A.、Kagami Masayo、Hara Toshiro、Ohga Shouichi
- Journal Title
  
  BMC Medical Genetics
  
  Volume: 18 Issue: 1 Pages: 117-117
- DOI
  10.1186/s12881-017-0477-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K09991, KAKENHI-PROJECT-15K15096
[Journal Article] Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome2017
- Author(s)
  Inoue Takanobu、Nakamura Akie、Matsubara Keiko、Nyuzuki Hiromi、Nagasaki Keisuke、Oka Akira、Fukami Maki、Kagami Masayo
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 173 Issue: 10 Pages: 2847-2850
- DOI
  10.1002/ajmg.a.38419
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096
[Journal Article] Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis2017
- Author(s)
  Luk HM, Ivan Lo FM, Sano S, Matsubara K, Nakamura A, Ogata T, Kagami M.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 170(7) Issue: 7 Pages: 1938-41
- DOI
  10.1002/ajmg.a.37679
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096
[Journal Article] Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients2017
- Author(s)
  Kagami Masayo、Nagasaki Keisuke、Kosaki Rika、Horikawa Reiko、Naiki Yasuhiro、Saitoh Shinji、Tajima Toshihiro、Yorifuji Tohru、Numakura Chikahiko、Mizuno Seiji、Nakamura Akie、Matsubara Keiko、Fukami Maki、Ogata Tsutomu
- Journal Title
  
  Genet Med
  
  Volume: 19 Issue: 12 Pages: 1356-1366
- DOI
  10.1038/gim.2017.53
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096
[Journal Article] Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.2017
- Author(s)
  Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M.
- Journal Title
  
  Clin Epigenetics
  
  Volume: 9 Issue: 1 Pages: 52-52
- DOI
  10.1186/s13148-017-0350-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16H05362, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-15K01686, KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-15K15478
[Journal Article] Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome.2017
- Author(s)
  Kagami M, Matsubara K, Nakabayashi K, Nakamura A, Sano S, Okamura K, Hata K, Fukami M, Ogata T.
- Journal Title
  
  Genet Med.
  
  Volume: 19 Issue: 4 Pages: 476-482
- DOI
  10.1038/gim.2016.123
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25460409, KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-16K07137, KAKENHI-PROJECT-15K15096
[Journal Article] Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver?Russell syndrome2017
- Author(s)
  Dateki Sumito、Kagami Masayo、Matsubara Keiko、Izumi Kei、Watanabe Satoshi、Nakatomi Akiko、Kondoh Tatsuro、Fukami Maki、Moriuchi Hiroyuki
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 62 Issue: 10 Pages: 919-922
- DOI
  10.1038/jhg.2017.62
- NAID
  120006987395
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096
[Journal Article] Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate-for-gestational age.2016
- Author(s)
  Okuno M, Yorifuji T, Kagami M, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Toru Kikuchi, Amemiya S, Suzuki J, Ogata T, Sugihara S, Fukami M and The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT)
- Journal Title
  
  Clin Pediatr Endocrinol
  
  Volume: 未定
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma.2016
- Author(s)
  Fujisawa Y, Sakaguchi K, Ono H, Yamaguchi R, Kato F, Kagami M, Fukami M, Ogata T.
- Journal Title
  
  J Steroid Biochem Mol Biol.
  
  Volume: 159 Pages: 86-93
- DOI
  10.1016/j.jsbmb.2016.02.031
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461524, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-15K15096
[Journal Article] Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus methylation defects: a female-dominant phenomenon?2016
- Author(s)
  Ｓｈｉｎｉｃｈｉｒｏ　Ｓａｎｏ
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 未定 Issue: 8 Pages: 765-9
- DOI
  10.1038/jhg.2016.45
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26461537, KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096
[Journal Article] A patient with Temple syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome.2016
- Author(s)
  Goto M, Kagami M, Nishimura G, Yamagata T
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 170 Issue: 9 Pages: 2483-2485
- DOI
  10.1002/ajmg.a.37827
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15K15096
[Journal Article] Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.2016
- Author(s)
  Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, Fukami M.
- Journal Title
  
  J Clin Endocrinol Metab
  
  Volume: 101(7) Issue: 7 Pages: 2623-7
- DOI
  10.1210/jc.2016-1725
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-16K07137, KAKENHI-PROJECT-26461537, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-16K21665
[Journal Article] Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.2016
- Author(s)
  Goto M, Sano S, et al
- Journal Title
  
  Pediatr Int
  
  Volume: 58 Issue: 11 Pages: 1229-1231
- DOI
  10.1111/ped.13096
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461537, KAKENHI-PROJECT-15K15096
[Journal Article] Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.2016
- Author(s)
  Luk H-M, Lo F-M I, Sano S, Matsbara K, Nakamura A, Ogata T, Kagami M
- Journal Title
  
  A, J Med Genet A.
  
  Volume: 未定
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus methylation defects: a female-dominant phenomenon?2016
- Author(s)
  Sano S, Nagasaki K, Kikuchi T, Nakabayashi K, Hata K, Fukami M, Kagami M, Ogata T
- Journal Title
  
  J Hum Genet
  
  Volume: 未定
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate- or large-for-gestational age2016
- Author(s)
  Okuno　M, Yorifuji T, Kagami M, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Suzuki J, Ogata T, Sugihara S, Fukami M, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT)
- Journal Title
  
  Clinical Pediatric Endocrinology
  
  Volume: 25 Issue: 3 Pages: 99-102
- DOI
  10.1297/cpe.25.99
- NAID
  130005165826
- ISSN
  0918-5739, 1347-7358
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09636, KAKENHI-PROJECT-15K15096
[Journal Article] Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.2016
- Author(s)
  Matsubara K, Murakami N, Fukami M, Kagami M, Nagai T, Ogata T
- Journal Title
  
  Clin Genet.
  
  Volume: 89(5) Issue: 5 Pages: 614-619
- DOI
  10.1111/cge.12691
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-15K09734
[Journal Article] Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndrome.2015
- Author(s)
  Watanabe T, Go H, Kagami M, Yasuda S, Nomura Y, Fujimori K.
- Journal Title
  
  J Obstet Gynaecol Res.
  
  Volume: 41(7): Issue: 7 Pages: 1133-1136
- DOI
  10.1111/jog.12665
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K15096
[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] Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell syndrome-compatible phenotype.2015
- Author(s)
  Kagami M, Mizuno S, Matsubara K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T.
- Journal Title
  
  Eur J Hum Genet.
  
  Volume: 23(8) Pages: 1062-1067
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K15096
[Journal Article] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions.2015
- Author(s)
  Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T, Yamazawa K.
- Journal Title
  
  Clin Epigenetics
  
  Volume: 28;7(1) Issue: 1 Pages: 90-90
- DOI
  10.1186/s13148-015-0124-y
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-15K15478, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25713040
[Journal Article] Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib2015
- Author(s)
  Sano S, Iwata H, Matsubara K, Fukami M, Kagami M, Ogata T.
- Journal Title
  
  Endocr J
  
  Volume: 62 Issue: 6 Pages: 523-529
- DOI
  10.1507/endocrj.EJ15-0033
- NAID
  130005085768
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-25253023
[Journal Article] Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome)2015
- Author(s)
  Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 2 Issue: 11 Pages: 1-8
- DOI
  10.1038/ejhg.2015.13
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23221010, KAKENHI-PROJECT-26461538, KAKENHI-PROJECT-15K15096, KAKENHI-PUBLICLY-15H01468, KAKENHI-PROJECT-25253023
[Journal Article] Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).2015
- Author(s)
  Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T
- Journal Title
  
  Eur J Hum Genet.
  
  Volume: 23(11) Issue: 2 Pages: 1488-1498
- DOI
  10.1038/jhg.2015.113
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096, KAKENHI-PROJECT-25253023
[Journal Article] 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] Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation.2014
- Author(s)
  Kosaki R, Takenouchi T, Takeda N, Kagami M, Nakabayashi K, Hata K, Kosaki K.
- Journal Title
  
  American Journal Medical Genetics A
  
  Volume: 164A(4) Issue: 4 Pages: 993-997
- DOI
  10.1002/ajmg.a.36364
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation2014
- Author(s)
  Kosaki R, Takenouchi T, Takeda N, Kagami M, Nakabayashi K, Hata K, Kosaki K
- Journal Title
  
  American Journal Medical Genetics A
  
  Volume: 164A(4) Pages: 993-997
- Data Source
  KAKENHI-PROJECT-23390083
[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] Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes.2014
- Author(s)
  Yorifuji T, Matsubara K, Sakakibara A, Hashimoto Y, Kawakita R, Hosokawa Y, Fujimaru R, Murakami A, Tamagawa N, Hatake K, Nagasaka H, Suzuki J, Urakami T, Izawa M, Kagami M.
- Journal Title
  
  Diabet Med.
  
  Volume: ? Issue: 7 Pages: 963-967
- DOI
  10.1111/dme.12758
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25860898, KAKENHI-PROJECT-15K09636, KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-15K15096
[Journal Article] Prenatal Genetic Testing for a Microdeletion at Chromosome 14q32.2 Imprinted Region Leading to UPD(14)pat-like Phenotype2014
- Author(s)
  Sasaki A, Sumie M, Wada S, Kosaki R, Kuroswa K, Fukami M, Sago H, Ogata T, and Kagami M
- Journal Title
  
  American Journal Medical Genetics A
  
  Volume: 164(1) Pages: 264-266
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.2013
- Author(s)
  Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T*
- Journal Title
  
  PLoS One
  
  Volume: 8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25253023
[Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.2013
- Author(s)
  Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T*
- Journal Title
  
  PLoS One
  
  Volume: 8
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004
[Journal Article] Molecular and clinical studies in 138 Japanese patients with silver-russell syndrome2013
- Author(s)
  Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Yamazawa K, Ogata T
- Journal Title
  
  PLoS One
  
  Volume: 8(3)
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] UPD(14)pat/mat症候群2013
- Author(s)
  鏡　雅代
- Journal Title
  
  小児科臨床
  
  Volume: 66 (suppl) Pages: 1315-1320
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] 14番染色体インプリンティング異常症2013
- Author(s)
  鏡　雅代
- Journal Title
  
  小児内科
  
  Volume: 45 (6) Pages: 2013-2016
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] 5) インプリント異常症2013
- Author(s)
  鏡　雅代
- Journal Title
  
  遺伝子医学MOOK25
  
  Volume: 25 Pages: 202-209
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome2013
- Author(s)
  T. Fuke, S. Mizuno, T. Nagai, T. Hasegawa, R. Horikawa, Y. Miyoshi, K. Muroya, T. Kondoh, C. Numakura, S. Sato, K. Nakabayashi, C. Tayama, K. Hata, S. Sano, K. Matsubara, M. Kagami, K. Yamazawa, T. Ogata
- Journal Title
  
  PLoS. One
  
  Volume: 8 Issue: 3 Pages: e60105-e60105
- DOI
  10.1371/journal.pone.0060105
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-23390083, KAKENHI-PROJECT-24890229, KAKENHI-PROJECT-25860898
[Journal Article] 14 番染色体インプリンティング異常症2013
- Author(s)
  鏡雅代
- Journal Title
  
  小児内科
  
  Volume: 45 (6) Pages: 2013-2016
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] UPD(14)pat/mat 症候群2013
- Author(s)
  鏡雅代
- Journal Title
  
  小児科臨床増刊臨床医が知っておきたい先天異常
  
  Volume: 66 (suppl) Pages: 1315-1320
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies2012
- Author(s)
  Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T, Arima T
- Journal Title
  
  Human Reproduction
  
  Volume: 27(8) Pages: 2541-2548
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies2012
- Author(s)
  Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T,Arima T*
- Journal Title
  
  Hum Reprod 27
  
  Volume: 8 Pages: 2541-2548
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations2012
- Author(s)
  Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyado M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T*
- Journal Title
  
  Epigenetics 7
  
  Volume: 10 Pages: 1142-1150
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Paternal uniparental disomy 14 and related disorders: placental gene expression analyses and histological examinations.2012
- Author(s)
  M. Kagam, K. Matsuoka, T. Nagai, M. Yamanaka, K. Kurosawa, N. Suzumori, Y. Sekita, M. Miyado, K. Matsubara, T. Fuke, F. Kato, M. Fukami, T. Ogata.
- Journal Title
  
  Epigenetics
  
  Volume: 7 Issue: 10 Pages: 1142-1150
- DOI
  10.4161/epi.21937
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-22591831, KAKENHI-PROJECT-23390083, KAKENHI-PROJECT-24790303
[Journal Article] Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype2012
- Author(s)
  Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T
- Journal Title
  
  European Journal of Human Genetics
  
  Volume: 20 (9) Pages: 928-932
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype2012
- Author(s)
  Kagami M, Ogata T, et al
- Journal Title
  
  Eur J Hum Genet
  
  Volume: (accepted)(Epub ahead of print) Issue: 9 Pages: 928-932
- DOI
  10.1038/ejhg.2012.26
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-23390083, KAKENHI-ORGANIZER-22132001
[Journal Article] Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.2012
- Author(s)
  Hiura H, Okae H, Miyauchi N, Sato F, Sato A, Van De Pette M, John RM, Kagami M, Nakai K, Soejima H, Ogata T, Arima T*
- Journal Title
  
  Hum Reprod
  
  Volume: 27 (8) Pages: 2541-2548
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype2012
- Author(s)
  Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T*
- Journal Title
  
  Eur J Hum Genet20
  
  Volume: 9 Pages: 928-932
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Paternal uniparental disomy 14 and related disorders : Placental gene expression analyses and histological examinations2012
- Author(s)
  Kagami M, Matsuoka K, Nagai T, Yamanaka M, Kurosawa K, Suzumori N, Sekita Y, Miyado M, Matsubara K, Fuke T, Kato F, Fukami M, Ogata T
- Journal Title
  
  Epigenetics
  
  Volume: 7 (10) Pages: 1142-1150
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 142011
- Author(s)
  Miyazaki O*, Nishimura G, Kagami M, Ogata T
- Journal Title
  
  Ped Radiol41
  
  Volume: 8 Pages: 1013-1019
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14.2011
- Author(s)
  Miyazaki O, Nishimura G, Kagami M, Ogata T.
- Journal Title
  
  Pediatric Radiology. Epub ahead of print
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 142011
- Author(s)
  Miyazaki O, Nishimura G, Kagami M, et al
- Journal Title
  
  Pediatric Radiology
  
  Volume: 41 Pages: 1013-1019
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 142011
- Author(s)
  Miyazaki O, Nishimura G, Kagami M, Ogata T
- Journal Title
  
  Pediatric Radiology
  
  Volume: 41(8) Pages: 1013-1019
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] Radiological evaluation of dysmorphic thorax in paternal uniparental disomy for chromosome 142010
- Author(s)
  Miyazaki O, Nishimura G, Kagami M, Ogata T
- Journal Title
  
  Ped Radiol
  
  Volume: (Accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Prenatal findings of paternal uniparental disomy 14 : Delineation of further patient.2010
- Author(s)
  Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M.
- Journal Title
  
  American Journal Medical Genetics A. 152A(12)
  
  Pages: 3189-3192
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Prenatal findings of paternal uniparental disomy 14 : Delineation of further patient.2010
- Author(s)
  Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M.
- Journal Title
  
  American Journal Medical Genetics A.
  
  Volume: 152A(12) Pages: 3189-3192
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers2010
- Author(s)
  Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T*
- Journal Title
  
  PLoS Genet6
  
  Volume: 6
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Prenatal diagnosis of paternal uniparental disomy 14:delineation of further patient2010
- Author(s)
  Suzumori N*, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Suguhara-Ogasawara M
- Journal Title
  
  Am J Med Genet A152A
  
  Volume: 12 Pages: 3189-3192
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers.2010
- Author(s)
  Kagami M, J O'Sullivan M, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T.
- Journal Title
  
  PLoS Genetics 6(6)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers.2010
- Author(s)
  Kagami M, J O'Sullivan M, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T.
- Journal Title
  
  PLoS Genetics
  
  Volume: 6(6)
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-21028026
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45, X Cell Lineage Accompanied by Biparentally Derived Autosomes.2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 47(11) Pages: 782-785
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-21028026
[Journal Article] Prenatal findings of paternal uniparental disomy 14 : Delineation of further patient.2010
- Author(s)
  Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M.
- Journal Title
  
  American Journal Medical Genetics A.
  
  Volume: 152A(12) Pages: 3189-3192
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-21028026
[Journal Article] 14番染色体インプリンティング遺伝子群の調節において、IG-DMRとMEG3-DMRは異なった役割をはたす2010
- Author(s)
  鏡雅代など
- Journal Title
  
  ホルモンと臨床
  
  Volume: 58 Pages: 1019-1026
- Data Source
  KAKENHI-PROJECT-23390083
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45,X Cell Lineage Accompanied by Biparentally Derive Autosomes.2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.A
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 47(11) Pages: 782-785
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] The IG-DMR and the MEG3-DMR at human chromosome 14q32.2 : hierarchical interaction and distinct functional properties as imprinting control centers2010
- Author(s)
  Kagami M, Ogata T, 他
- Journal Title
  
  PLoS Genet
  
  Volume: 6(6)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Parthenogenetic chimaerism/mosaicism with a Silver-Russell Syndrome-like Phenotype2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M,Sato T, Saitoh S, Horikawa R, Hizuka N, Ogata T*
- Journal Title
  
  J Med Genet47
  
  Volume: 11 Pages: 782-785
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] Parthenogenetic chimaerism/mosaicism with a Silver-Russell Syndrome-like Phenotype2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Ogata T, 他
- Journal Title
  
  J Med Genet
  
  Volume: 47(11) Pages: 782-785
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] The 1G-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers.2010
- Author(s)
  Kagami M, J O'Sullivan M, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T.
- Journal Title
  
  PLoS Genetics
  
  Volume: 6(6)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45, X Cell Lineage Accompanied by Biparentally Derived Autosomes.2010
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.
- Journal Title
  
  Journal of Medical Genetics Epub ahead of print
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 22009
- Author(s)
  Kobayashi H, Yamada K, Morita S, Hiura H, Fukuda A, Kagami M, Ogata T, Hata K, Sotomaru Y, Kono T.
- Journal Title
  
  Genomics 93(5)
  
  Pages: 461-472
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2.2009
- Author(s)
  Kobayashi H, Yamada K, Morita S, Hiura H, Fukuda A, Kagami M, Ogata T, Hata K, Sotomaru Y, Kono T.
- Journal Title
  
  Genomics 93(5)
  
  Pages: 461-472
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-21028026
[Journal Article] Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype.2009
- Author(s)
  Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S.
- Journal Title
  
  Journal of Pediatrics 155(6)
  
  Pages: 900-903
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2.2009
- Author(s)
  Kobayashi H, Yamada K, Morita S, Hiura H, Fukuda A, Kagami M, Ogata T, Hata K, Sotomaru Y, Kono T.
- Journal Title
  
  Genomics 93(5)
  
  Pages: 461-472
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype.2009
- Author(s)
  Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S.
- Journal Title
  
  Journal of Pediatrics 155(6)
  
  Pages: 900-903
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-21028026
[Journal Article] Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 22009
- Author(s)
  Kobayashi H, Yamada K, Morita S, Hiura H, Fukuda A, Kagami M, Ogata T, Hata K, Sotomaru Y, Kono T.
- Journal Title
  
  Genomics 93
  
  Pages: 461-472
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype2009
- Author(s)
  Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S.
- Journal Title
  
  Journal of Pediatrics 155(6)
  
  Pages: 900-903
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placentomegaly in paternal uniparental disomy for human chromosome 142008
- Author(s)
  Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T.
- Journal Title
  
  Placenta 29
  
  Pages: 760-761
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Molecular and clinical findings and their correlations in Silver-Russell syndrome : implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.2008
- Author(s)
  Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T.
- Journal Title
  
  Journal of Molecular Medicine 86(10)
  
  Pages: 1171-1181
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas2008
- Author(s)
  Yamazawa K, Kagami M, Nagai Y, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T
- Journal Title
  
  Journal of Molecular Medicine 86(10)
  
  Pages: 1171-1181
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR2008
- Author(s)
  Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T
- Journal Title
  
  Journal of Human Genetics 53(10)
  
  Pages: 950-955
- NAID
  10022603248
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Epimutation (hypomethylation) affecting the chromosome 14q32. 2 imprinted region in a girl with upd (14) mat-like phenotype2008
- Author(s)
  Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S.
- Journal Title
  
  Eur J Hum Genet 16
  
  Pages: 1019-1023
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.2008
- Author(s)
  Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T.
- Journal Title
  
  Journal of Human Genetics 53(10)
  
  Pages: 950-955
- NAID
  10022603248
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placental hypoplasia in maternal uniparental disomy for chromosome 72008
- Author(s)
  Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T
- Journal Title
  
  American Journal of Medical Genetics Part A 146A(4)
  
  Pages: 514-516
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 142008
- Author(s)
  Ogata T, Kagami M, Ferguson-Smith AC.
- Journal Title
  
  Epigenetics 3
  
  Pages: 181-187
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.2008
- Author(s)
  Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S.
- Journal Title
  
  European Journal of Human Genetics 16(8)
  
  Pages: 1019-1023
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placental hypoplasia in maternal uniparental disomy for chromosome 72008
- Author(s)
  Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T.
- Journal Title
  
  Am J Med Gent A. 146A
  
  Pages: 514-516
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placentomegaly in paternal uniparental disomy for human chromosome 14.2008
- Author(s)
  Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T.
- Journal Title
  
  Placenta 29(8)
  
  Pages: 760-761
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR2008
- Author(s)
  Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T.
- Journal Title
  
  J Hum Genet 53
  
  Pages: 950-955
- NAID
  10022603248
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placentomegaly in paternal uniparental disomy for human chromosome 142008
- Author(s)
  Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T
- Journal Title
  
  Placenta 29(8)
  
  Pages: 760-761
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Molecular and clinical findings and their correlations in Silver-Russell syndrome : implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas2008
- Author(s)
  Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T.
- Journal Title
  
  J Mol Med. 86
  
  Pages: 1171-1181
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] Placentomegaly in paternal uniparental disomy for human chromosome 142008
- Author(s)
  Kagami M, et al.
- Journal Title
  
  Placenta 29
  
  Pages: 760-761
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST2007
- Author(s)
  Kagami M, Nagai T, Fukami M, Yamazawa K, Ogata T
- Journal Title
  
  Journal of Assisted Reproduction and Genetics 24(4)
  
  Pages: 131-136
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Silver-Russell syndrome in a girl born after in vitro fertilization:partial hypermethylation at the differentially methlated region of PEG1/MEST2007
- Author(s)
  Kagami M
- Journal Title
  
  Journal of Assisted Reproduction and Genetics 24
  
  Pages: 131-136
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19790752
[Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome
- Author(s)
  Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, Hata K, Sano S, Matsubara K, Kagami M, Tamazawa K, Ogata T*
- Journal Title
  
  PLoS One (accepted)
- Data Source
  KAKENHI-PROJECT-22249010
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45,X Cell Lineage Accompanied by Biparentally Derived Autosomes
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.
- Journal Title
  
  Journal of Medical Genetics (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] A Parthenogenetic Female with a Silver-Russell Syndrome-like Phenotype and a 45,X Cell Lineage Accompanied by Biparentally Derived Autosomes.
- Author(s)
  Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T.
- Journal Title
  
  Journal of M edical Genetics (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-21028026
[Journal Article] The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers
- Author(s)
  Kagami M, J O'Sullivan M, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T.
- Journal Title
  
  PLoS Genetics (accepted)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390101
[Journal Article] The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers.
- Author(s)
  Kagami M, J O'Sullivan M, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T.
- Journal Title
  
  PLoS Genetics (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] Comprehensive methylation analysis of 309 children born SGA targeting imprinting disorders2023
- Author(s)
  Kazuki Yamazawa, Moeko Nakashima, Takanobu Inoue, Akiko Nakamura, Keiko Matsubara, Masayo Kagami
- Organizer
  American Society of Human Genetics 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] 希少未診断疾患エピバリアント解析のための参照データベースとツールキットの開発2023
- Author(s)
  青砥早希, 松原圭子, 山澤一樹, 秦健一郎, 鏡雅代, 中林一彦
- Organizer
  第46回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] Silver-Russell症候群の臨床診断基準を満たした173名における遺伝学的原因および遺伝学的原因別臨床像の検討2022
- Author(s)
  鏡雅代, 福家智子, 中村明枝, 井上毅信, 川嶋明香, 原香織, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] Silver-Russell症候群の臨床診断基準を満たした173名における遺伝学的原因および遺伝学的原因別臨床像の検討2022
- Author(s)
  鏡雅代, 福家智子, 中村明枝, 井上毅信, 川嶋明香, 原香織, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤
- Organizer
  第55回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] 原因不明のSGA性低身長症140名における(epi)geneticな要因の解明2022
- Author(s)
  原香織, 中村明枝, 福家智子, 井上毅信, 川嶋明香, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤, 鏡雅代
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] SGA児309例の包括的メチル化解析によるインプリンティング疾患の探索2022
- Author(s)
  山澤一樹, 中嶋萌子, 久保井徹, 横田一郎, 杉野典子, 小川昌宏, 盆野元紀, 曳野俊治, 佐藤和夫, 中嶋敏紀, 酒見好弘, 井上毅信, 中村明枝, 松原圭子, 鏡雅代
- Organizer
  第55回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] SGA児309例の包括的メチル化解析によるインプリンティング疾患の探索2022
- Author(s)
  山澤一樹, 中嶋萌子, 久保井徹, 横田一郎, 杉野典子, 小川昌宏, 盆野元紀, 曳野俊治, 佐藤和夫, 中嶋敏紀, 酒見好弘, 井上毅信, 中村明枝, 松原圭子, 鏡雅代
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] 原因不明のSGA性低身長症140名における(epi)geneticな要因の解明2022
- Author(s)
  原香織, 中村明枝, 福家智子, 井上毅信, 川嶋明香, 松原圭子, 佐野伸一朗, 山澤一樹, 深見真紀, 緒方勤, 鏡雅代
- Organizer
  第55回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-23K24309
[Presentation] A case of maternal uniparental disomy of chromosome 6 presenting with Silver-Russell syndrome phenotype2020
- Author(s)
  Kazuki Yamazawa, Toru Kuboi, Tatsuya Miyoshi, Moeko Nakashima, Keiko Matsubara, Masayo Kagami.
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features.2020
- Author(s)
  Kazuki Yamazawa, Takanobu Inoue, Yoshihiro Sakemi, Toshinori Nakashima, Hironori Yamashita, Kaduki Khono, Hideki Fujita, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Moeko Nakashima, Tatsuo Matsunaga, Akie Nakamura, Keiko Matsubara, Tsutomu Ogata, Masayo Kagami.
- Organizer
  Genomic Imprinting - from Biology to Disease Virtual Conference
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features reminiscent of Silver-Russell syndrome.2020
- Author(s)
  Kazuki Yamazawa, Takanobu Inoue, Yoshihiro Sakemi, Toshinori Nakashima, Hironori Yamashita, Kaduki Khono, Hideki Fujita, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Moeko Nakashima, Tatsuo Matsunaga, Akie Nakamura, Keiko Matsubara, Tsutomu Ogata, Masayo Kagami.
- Organizer
  European Human Genetics Virtual Conference
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] ZNF597-DMRの低メチル化に伴い胎児発育遅延を呈した1例：新規インプリンティング異常症の発見2019
- Author(s)
  山澤一樹、井上毅信、酒見好弘、中嶋敏紀、山下博徳、河野一樹、中嶋萌子、中林一彦、秦健一郎、松原圭子、鏡雅代
- Organizer
  第53回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] ZNF597:TSS-DMRの低メチル化に伴い胎児発育遅延を呈した1例：新規インプリンティング異常症の発見2019
- Author(s)
  山澤一樹、井上毅信、酒見好弘、中嶋敏紀、山下博徳、河野一樹、中嶋萌子、中林一彦、秦健一郎、松原圭子、鏡雅代
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-19H03628
[Presentation] Kagami-Ogata症候群2017
- Author(s)
  鏡雅代
- Organizer
  nordiscience forum 2017
- Invited
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients2017
- Author(s)
  Masayo Kagami et al.
- Organizer
  ESHG 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] Kagami-Ogata症候群2017
- Author(s)
  鏡雅代
- Organizer
  第62回日本人類遺伝学会
- Invited
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] 片親性ダイソミー：両親の年齢と生殖補助医療2017
- Author(s)
  鏡雅代
- Organizer
  第40回日本分子生物学会
- Invited
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] Kagami-Ogata syndrome: Clinically recognizable imprinting disorder caused by upd(14) pat and related condition2016
- Author(s)
  Kagami M
- Organizer
  2016　ICHG (The 13th International Congress of Human Genetics)
- Place of Presentation
  京都
- Year and Date
  2016-04-04
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] シルバーラッセル症候群診療ガイドライン.2016
- Author(s)
  鏡雅代
- Organizer
  第50回日本小児内分泌学会学術集会・第9回アジア太平洋小児内分泌学会
- Place of Presentation
  東京
- Year and Date
  2016-11-16
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions2016
- Author(s)
  Yamazawa K, Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T
- Organizer
  International Congress of Human Genetics 2016 Annual Meeting
- Place of Presentation
  国立京都国際会館（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05362
[Presentation] Kagami-Ogata 症候群: 疾患概念の確立とその病態2016
- Author(s)
  鏡　雅代
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  東京
- Year and Date
  2016-12-09
- Invited
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] 胎児期発育異常を示すインプリンティング異常症2016
- Author(s)
  鏡雅代
- Organizer
  新生児科指導医養成事業第5回教育セミナー
- Place of Presentation
  仙台
- Year and Date
  2016-05-02
- Invited
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] Comprehensive clinical studies in 30 patients molecularly diagnosed with Temple syndrome2016
- Author(s)
  Masayo Kagami, Keisuke Nagasaki, Rika Kosaki, Horikawa Reiko, Yasuhiro Naiki, Shinji Saitoh, Toshihiro Tajima, Akie Nakamura, Keiko Matsubara, Maki Fukami, Tsutomu Ogata
- Organizer
  第50回日本小児内分泌学会学術集会・第9回アジア太平洋小児内分泌学会
- Place of Presentation
  東京
- Year and Date
  2016-11-19
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] Kagami-Ogata syndrome: Clinically recognizable imprinting disorder caused by upd(14)pat and related condition2016
- Author(s)
  Masayo Kagami
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都
- Year and Date
  2016-04-06
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] 当研究室で同定した132 名の片親性ダイソミーにおける両親の年齢および生殖補助医療についての検討2016
- Author(s)
  鏡雅代、松原圭子、中村明枝、井上毅信、佐野伸一朗、緒方勤、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
- Year and Date
  2016-12-09
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] Year book 4 臨床遺伝、橋渡し研究2015
- Author(s)
  鏡雅代
- 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
- Invited
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] インプリンティング異常症2015
- Author(s)
  鏡雅代
- Organizer
  第35回日本小児病理研究会学術集会
- Place of Presentation
  東京
- Year and Date
  2015-08-29
- Invited
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] Silver-Russell Syndrome without Body Asymmetry in Three Patients with Duplications of Maternally Derived Chromosome 11p15 Involving CDKN1C2015
- Author(s)
  Shinichi Nakashima,Fumiko Kato,Tomoki Kosho,Keisuke Nagasaki,Toru Kikuchi,Masayo Kagami,Maki Fukami,Tsutomu Ogata
- Organizer
  ESPE BARCELONA 54th Annual Meeting
- Place of Presentation
  Barcelona
- Year and Date
  2015-10-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] Various imprinting disorders underlying Silver-Russell Syndrome-compatible phenotype2015
- Author(s)
  Kagami M, Matsubara K, Sano S, Nakamura A, Mizuno S, Hamajima N, Yanagisawa A, Hashimoto M, Yukote A, Fukami M, Ogata T
- Organizer
  54th European for Paediatric Endocrinolgy Annual Meeting
- Place of Presentation
  バルセロナ
- Year and Date
  2015-10-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] ヒト 14 番染色体インプリンティング異常症患者における 14 番染色体インプリンティング領域のメチローム解析2015
- Author(s)
  鏡雅代、早野崇英、細道一善、深見真紀、緒方勤、井ノ上逸朗
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  東京
- Year and Date
  2015-10-15
- Data Source
  KAKENHI-PROJECT-15K15096
[Presentation] 14番染色体インプリンティング異常症エピ変異例に対する網羅的DMRメチル化解析および臨床像についての検討2015
- Author(s)
  鏡雅代、松原圭子、中林一彦、嘉村浩美、中村明枝、深見真紀、緒方勤
- 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-15K15096
[Presentation] Various Imprinting Disorders Underlying Silver-Russell Syndrome-Compatible Phenotype2015
- Author(s)
  Masayo Kagami,Keiko Matsubara,Shinichiro Sano,Akie Nakamura,Seiji Mizuno,Naoki Hamajima,Atsuhiro Yanagisawa,Miyuki Hashimoto,Akira Yukote,Maki Fukami,Tsutomu Ogata
- Organizer
  ESPE BARCELONA 54th Annual Meeting
- Place of Presentation
  Barcelona
- Year and Date
  2015-10-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] CDKN1C重複は半身低形成のないシルバーラッセル症候群サブタイプを招く2015
- Author(s)
  中島　信一、加藤芙弥子、古庄　知己、長崎　啓祐、菊池　　透、鏡　　雅代、深見　真紀、緒方　　勤
- Organizer
  第88回日本内分泌学会学術総会
- Place of Presentation
  東京
- Year and Date
  2015-04-24
- Data Source
  KAKENHI-PROJECT-25253023
[Presentation] インプリンティング異常症2014
- Author(s)
  鏡雅代
- Organizer
  第28回北陸小児内分泌学会
- Place of Presentation
  石川
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] Clarification of (epi)genetic mechanisms leading to upd(14)pat and upd(14)mat phenotypes.2013
- Author(s)
  Kagami M
- Organizer
  9th Joint Meeting of Paediatric Endocrinology
- Place of Presentation
  Milan, Italy
- Invited
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] インプリンティング異常症と生殖補助医療2013
- Author(s)
  鏡雅代
- Organizer
  第54回日本卵子学会シンポジウム
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] インプリンティング異常症2013
- Author(s)
  鏡雅代
- Organizer
  Forum on Growth Hormone Research 2013
- Place of Presentation
  京都
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 本邦における 14 番染色体母親性ダイソミーおよび類縁疾患に関する検討 : 遺伝学的原因および臨床像2013
- Author(s)
  鏡雅代, 長崎啓祐, 依藤亨, 中村明枝, 沼倉周彦, 緒方勤, 深見真紀, 齋藤伸治
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14 番染色体父親性ダイソミー症候群 : 遺伝学的病因,臨床像,治療2013
- Author(s)
  鏡雅代 , 西村玄 , 黒澤健司 , 柴崎淳 , 左合治彦 , 深見真紀 , 緒方勤
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] Clarification of (epi)genetic mechanisms leading to UPD(14)pat and UPD(14)mat phenotypes2013
- Author(s)
  Masayo Kagami
- Organizer
  th Joint Meeting of Paediatric Endocrinology, Meeting Theme Symposium
- Place of Presentation
  Milan, Italy
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14番染色体インプリンティング領域メチル化制御機構の解明：MEG3-DMRエピ変異症例の解析から2012
- Author(s)
  鏡雅代
- Organizer
  第56回人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14 番染色体父親性ダイソミー症候群の遺伝学的病因別頻度の解明2012
- Author(s)
  鏡雅代, 加藤芙弥子, 松原圭子, 佐藤智子, 西村玄, 緒方勤
- Organizer
  第35回日本小児遺伝学会学術集会
- Place of Presentation
  久留米
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] Role of RTL1 in Human Placenta : Placental study in Affected Cases with Structural Abnormality of the Imprinted Region on Human Chromosome 142012
- Author(s)
  Masayo Kagami, Kentaro Matsuoka, Keiko Matsubara, Tomoko Sato, Michiko Yamanaka, Nobuhiro Suzumori, Tsutomu Ogata
- Organizer
  International Federation of Placenta Associations Meeting
- Place of Presentation
  Hiroshima
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14 番染色体父親性ダイソミー (UPD(14)pat) 症候群の病因別頻度の検討2012
- Author(s)
  鏡雅代, 加藤芙弥子, 松原圭子, 佐藤智子, 緒方勤
- Organizer
  第6回日本エピジェネティクス研究会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14 番染色体母親性ダイソミーおよび類縁疾患に関する全国調査 : 遺伝学的頻度および臨床像2012
- Author(s)
  鏡雅代, 長崎啓祐, 佐藤英利, 鹿島京子, 依藤亨, 中村明枝, 加藤光広, 沼倉周彦, 緒方勤, 深見真紀, 斉藤伸治
- Organizer
  第46回日本小児内分泌学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14 番染色体インプリンティング領域メチル化制御機構の解明 : MEG3-DMRエピ変異症例の解析から2012
- Author(s)
  鏡雅代, 古庄知己, 中林一彦, 松岡健太郎, 松原圭子, 福家智子, 深見真紀, 緒方勤
- Organizer
  第56回人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] Role of RTL1 in Human Placenta: Placental study in Affected Cases with Structural Abnormality of the Imprinted Region on Human Chromosome 14.2012
- Author(s)
  Masayo Kagami
- Organizer
  International Federation of Placenta Associations Meeting
- Place of Presentation
  Hiroshima
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14番染色体母親性ダイソミーおよび類縁疾患に関する全国調査：遺伝学的頻度および臨床像2012
- Author(s)
  鏡雅代
- Organizer
  第46回日本小児内分泌学会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14番染色体父親性ダイソミー (upd(14)pat) 症候群の病因別頻度の検討2012
- Author(s)
  鏡　雅代
- Organizer
  第6回日本エピジェネティクス研究会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14 番染色体インプリンティング遺伝子の胎盤における機能と発現調節メカニズムの解明2011
- Author(s)
  鏡雅代, 松岡健太郎, 加藤芙弥子, 宮戸真美, 山中美智子, 鈴森伸宏, 松原圭子, 佐藤智子, 永井敏郎, 緒方勤
- Organizer
  第34回日本小児遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14番染色体父親性ダイソミー症候群の病因別頻度の解明2011
- Author(s)
  鏡雅代など
- Organizer
  第114回日本小児科学会
- Place of Presentation
  東京
- Year and Date
  2011-08-12
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] RTL1 遺伝子の胎盤における機能の解明 : 胎盤発育不全, 子宮内胎児発育遅延の原因解明をめざして2011
- Author(s)
  鏡雅代, 松岡健太郎, 加藤芙弥子, 宮戸真美, 松原圭子, 深見真紀, 山中美智子, 鈴森伸宏, 永井敏郎, 緒方勤
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  埼玉
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14番染色体父親性ダイソミー症候群 : 遺伝学的病因, 臨床像, 治療2011
- Author(s)
  鏡雅代, 黒澤健司, 宮嵜治, 柴崎淳, 左合治彦, 西村玄, 深見真紀, 緒方勤
- Organizer
  第56回日本人類遺伝学会学術集会
- Place of Presentation
  幕張
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] Fetal vessels dilatation contribute placentomegaly of uniparental disomy chromosome 142011
- Author(s)
  Kentaro Matsuoka, Masayo Kagami, Tsutomu Ogata
- Organizer
  International Federation of Placenta Associations Meeting
- Place of Presentation
  Norway
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] RTL1遺伝子の胎盤における機能の解明:胎盤発育不全、子宮内胎児発育遅延の原因解明をめざして2011
- Author(s)
  鏡雅代など
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  さいたま市
- Year and Date
  2011-10-08
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14 番染色体インプリンティング遺伝子の胎盤における機能と発現調節メカニズムの解明2011
- Author(s)
  鏡雅代, 松岡健太郎, 加藤芙弥子, 宮戸真美, 山中美智子, 鈴森伸宏, 松原圭子, 佐藤智子, 永井敏郎, 緒方勤
- Organizer
  第5回エピジェネティクス研究会
- Place of Presentation
  熊本
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14 番染色体父親性ダイソミー症候群の病因別頻度の解明2011
- Author(s)
  鏡雅代, 加藤芙弥子, 松原圭子, 佐藤智子, 緒方勤
- Organizer
  第114回日本小児科学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14番染色体インプリンティング遺伝子の胎盤における機能と発現調節メカニズム2011
- Author(s)
  鏡雅代など
- Organizer
  第5回エピジェネティクス研究会
- Place of Presentation
  熊本
- Year and Date
  2011-05-19
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14番染色体インプリンティング遺伝子の胎盤における機能と発現調節メカニズム2011
- Author(s)
  鏡雅代など
- Organizer
  第34回日本小児遺伝学会
- Place of Presentation
  横浜
- Year and Date
  2011-08-11
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14番染色体父親性ダイソミー症候群:遺伝学的病因、臨床像、治療2011
- Author(s)
  鏡雅代など
- Organizer
  第56回日本人類遺伝学会学術集会
- Place of Presentation
  幕張
- Year and Date
  2011-11-12
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe , Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata
- Organizer
  International Snmposium on Pediatric Endocrinology
- Place of Presentation
  Tokyo
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] ヒト14q32.2のインプリンティング領域においてIG-DMRとMEG3-DMRは異なった役割をはたす2010
- Author(s)
  鏡雅代、高田修治、加藤芙弥子、Anne C Ferguson-Smith、緒方勤
- Organizer
  第4回エピジェネティクス研究会
- Place of Presentation
  鳥取
- Year and Date
  2010-05-29
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] RTL1 plays a key role in human placental development.2010
- Author(s)
  Masayo Kagami, Kentaro Matsuoka, Keiko Matsubara, Tomoko Sato, Michiko Yamanaka, Nobuhiro Suzumori, Tsutomu Ogata.
- Organizer
  International Symposium on Epigenome Network , Development and Reprograming of Germ Cells
- Place of Presentation
  Fukuoka
- Year and Date
  2010-11-22
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] ヒト14番染色体インプリンティング異常症発症機序の解明2010
- Author(s)
  鏡雅代
- Organizer
  第55回日本人類遺伝学会奨励賞受賞講演
- Place of Presentation
  大宮
- Year and Date
  2010-10-29
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata
- Organizer
  14th International Congress of Endocrinology
- Place of Presentation
  Kyoto
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers2010
- Author(s)
  Masayo Kagami, Maureen J O' Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Nobuhide Masawa, Kentarou Matsuoka, Maki Fukami, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata.
- Organizer
  International Symposium on Epigenome Network , Development and Reprograming of Germ Cells
- Place of Presentation
  Fukuoka
- Year and Date
  2010-11-23
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 14番染色体インプリンティング遺伝子の胎盤における機能の解明2010
- Author(s)
  鏡雅代、加藤芙弥子、宮戸真美、高田修治、松岡健太郎、山中美智子、金子さおり、松原圭子、佐藤智子、緒方勤
- Organizer
  第44回日本小児内分泌学会学術集会
- Place of Presentation
  大阪
- Year and Date
  2010-10-07
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] インプリンティング異常と胎盤2010
- Author(s)
  松岡健太郎, 中澤温, 林聡, 左合治彦, 鏡雅代, 緒方勤
- Organizer
  第18回日本胎盤学会学術集会(第28回日本絨毛性疾患研究会と併催)ワークショップ
- Place of Presentation
  熊本基調講演
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
 Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata.
- Organizer
 14^<th> International Congress of Endocrinology
- Place of Presentation
 Kyoto
- Year and Date
 2010-03-29
- Data Source
 KAKENHI-PUBLICLY-21028026
[Presentation] インプリンティング異常と胎盤2010
- Author(s)
  松岡健太郎,中澤温,林聡,左合治彦,鏡雅代,緒方勤
- Organizer
  第18回日本胎盤学会学術集会(第28回日本絨毛性疾患研究会と併催)ワークショップ基調講演:Placental Mesenchymal Dysplasia (PMD)とBeckwith-Wiedemann syndrome (BMD)
- Place of Presentation
  熊本
- Data Source
  KAKENHI-PROJECT-22249010
[Presentation] RTL1 plays a key role in human placental development. International Symposium on Epigenome Network2010
- Author(s)
  Masayo Kagami, Kentaro Matsuoka, Keiko Matsubara, Tomoko Sato, Michiko Yamanaka, Nobuhiro Suzumori, Tsutomu Ogata
- Organizer
  Development and Reprograming of Germ Cells
- Place of Presentation
  Fukuoka
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 14番染色体父親性ダイソミー症候群の病因別頻度の解明2010
- Author(s)
  鏡雅代、加藤芙弥子、松原圭子、佐藤智子、緒方勤
- Organizer
  第55回日本人類遺伝学会学術集会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] ヒト14番染色体インプリンティング異常症発症機序の解明2010
- Author(s)
  鏡雅代
- Organizer
  第55回日本人類遺伝学会奨励賞受賞講演
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] ヒト14q32.2のインプリンティング領域において、IG-DMRとMEG3-DMRは異なった役割をはたす2010
- Author(s)
  鏡雅代、高田修治、加藤芙弥子、Anne C Ferguson-Smith、緒方勤
- Organizer
  第4回エピジェネティクス研究会
- Place of Presentation
  鳥取
- Year and Date
  2010-05-29
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] 14番染色体インプリンティング遺伝子の胎盤における機能の解明2010
- Author(s)
  鏡雅代、加藤芙弥子、宮戸真美、高田修治、松岡健太郎、山中美智子、金子さおり、松原圭子、佐藤智子、緒方勤
- Organizer
  第44回日本小児内分泌学会学術集会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 14番染色体父親性ダイソミー症候群の病因別頻度の解明2010
- Author(s)
  鏡雅代、加藤芙弥子、松原圭子、佐藤智子、緒方勤
- Organizer
  第55回日本人類遺伝学会学術集会
- Place of Presentation
  大宮
- Year and Date
  2010-10-29
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] RTL1 plays a key role in human placental development.2010
- Author(s)
  Masayo Kagami, Kentaro Matsuoka, Keiko Matsubara, Tomoko Sato, Michiko Yamanaka, Nobuhiro Suzumori, Tsutomu Ogata.
- Organizer
  International Symposium on Epigenome Network, Development and Reprograming of Germ Cells
- Place of Presentation
  Fukuoka
- Year and Date
  2010-11-22
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers, International Symposium on Epigenome Network2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Nobuhide Masawa, Kentarou Matsuoka, Maki Fukami, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata
- Organizer
  Development and Reprograming of Germ Cells
- Place of Presentation
  Fukuoka
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata.
- Organizer
  International Snmposium on Pediatric Endocrinology
- Place of Presentation
  Tokyo
- Year and Date
  2010-04-01
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2010
- Author(s)
 Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Toshiro Nagai, Shuji Takada, Maki Fukami, Kazuki Yamazawa, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata.
- Organizer
 14^<th> International Congress of Endocrinology
- Place of Presentation
 Kyoto
- Year and Date
 2010-03-29
- Data Source
 KAKENHI-PROJECT-20390101
[Presentation] The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2 : Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers2010
- Author(s)
  Masayo Kagami, Maureen J O'Sullivan, Andrew J Green, Yoshiyuki Watabe, Osamu Arisaka, Nobuhide Masawa, Kentarou Matsuoka, Maki Fukami, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata.
- Organizer
  International Symposium on Epigenome Network, Development and Reprograming of Germ Cells
- Place of Presentation
  Fukuoka
- Year and Date
  2010-11-23
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] ヒト14q32.2のインプリンティング領域において、IG-DMRとMEG3-DMRは異なった役割をはたす2010
- Author(s)
  鏡雅代、高田修治、加藤芙弥子、Anne C Ferguson-Smith、緒方勤
- Organizer
  第4回エピジェネティクス研究会
- Place of Presentation
  鳥取
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMRand the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2009
- Author(s)
  鏡雅代
- Organizer
  第32回日本分子生物学会年会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] 14番染色体インプリンティング遺伝子群の調節において, IG-DMRとMEG3-DMRは異なった役割を果たす2009
- Author(s)
  鏡雅代、高田修治、加藤芙弥子、Anne C Ferguson-Smith、緒方勤
- Organizer
  第54回日本人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 14番染色体インプリンティング遺伝子群の調節において, IG-DMRとMEG3-DMRは異なった役割をはたす2009
- Author(s)
  鏡雅代、高田修治、加藤芙弥子、Anne C Ferguson-Smith、緒方勤
- Organizer
  第3回日本エピジェネティクス研究会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 14番染色体インプリンティング遺伝子群の調節において,IG-DMRとMEG3-DMRは異なった役割をはたす.2009
- Author(s)
  鏡雅代
- Organizer
  第43回日本小児内分泌学会
- Place of Presentation
  宇都宮
- Year and Date
  2009-10-03
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] Essential role of the MEG3-DMR in the regulation of the maternally inherited human chromosome 14q32.2 imprinting region.2009
- Author(s)
  Masayo Kagami, Maki Fukami, Maureen O'Sullivan, Andrew Green, Shuji Takada, Fumiko Kato, Anne Ferguson-Smith, Tsutomu Ogata
- Organizer
  The 24th Naito Conference
- Place of Presentation
  Sapporom
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 14番染色体インプリンティング遺伝子群の調節において,IG-DMRとMEG3-DMRは異なった役割をはたす.2009
- Author(s)
  鏡雅代, 高田修司
- Organizer
  第3回日本エピジェネティクス研究会
- Place of Presentation
  東京
- Year and Date
  2009-05-23
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] Essential role of the MEG3-DMR in the regulation of the maternallyinherited human chromosome 14q32.2 imprinting region.2009
- Author(s)
  Kagami M
- Organizer
  The 24th Naito Conference
- Place of Presentation
  Sapporo
- Year and Date
  2009-06-24
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] 14番染色体インプリンティング遺伝子群の調節において,IG-DMRとMEG3-DMRは異なった役割を果たす.2009
- Author(s)
  鏡雅代
- Organizer
  第54回日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2009-09-25
- Data Source
  KAKENHI-PUBLICLY-21028026
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region2009
- Author(s)
  鏡雅代
- Organizer
  第32回日本分子生物学会年会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 14番染色体インプリンティング遺伝子群の調節において, IG-DMRとMEG3-DMRは異なった役割をはたす2009
- Author(s)
  鏡雅代、高田修治、加藤芙弥子、Anne C Ferguson-Smith、緒方勤
- Organizer
  第43回日本小児内分泌学会
- Place of Presentation
  宇都宮
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Hierarchical interaction and distinct functional properties of the IG-DMR and the MEG3-DMR at the human chromosome 14q32.2 imprinted region.2009
- Author(s)
  Masayo Kagami, Shuji Takada, Maki Fukami, Kazuki Yamazaw, Keiko Matsubara, Fumiko Kato, Anne C Ferguson-Smith, Tsutomu Ogata
- Organizer
  第32回日本分子生物学会年会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Silver-Russell症候群を呈する雌性単為生殖キメラおよびBeckwith-Wiedemann症候群を呈する雄性単為生殖キメラ2009
- Author(s)
  山澤一樹,鏡雅代,松原圭子,中林一彦,秦健一郎,肥塚直美,堀川玲子,緒方勤
- Organizer
  第32回日本小児遺伝学会
- Place of Presentation
  奈良
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] Essential role of the MEG3-DMR in the regulation of the maternally inherited human chromosome 14q32.2 imprinting region2009
- Author(s)
  Kagami M
- Organizer
  The 24th Naito Conference
- Place of Presentation
  Sapporo
- Year and Date
  2009-06-24
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] Campomelic dysplasia患者14例におけるSOX9変異の有無と臨床像の関連性2008
- Author(s)
  和田友香,山澤一樹,鏡雅代,吉形真由美,埴田卓志,澤井英明,宮河真一郎
- Organizer
  第44回日本周産期・新生児医学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群におけるH19-DMRのエピ変異と個体および胎盤表現型の検討2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第111回日本小児科学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] 14番染色体インプリンティング遺伝子群の調節にはGTL2-DMRが決定的な役割を果たす2008
- Author(s)
  鏡雅代、加藤芙弥子、西村玄、緒方勤
- Organizer
  第53回日本人類遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] シルバーラッセル症候群における分子遺伝学的および臨床学的所見とその相関2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第53回日本人類遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] 14番染色体インプリンティング遺伝子群の調節にはGTL2-DMRが決定的な役割を果たす2008
- Author(s)
  鏡雅代
- Organizer
  第53回日本人類遺伝学会学術集会
- Place of Presentation
  横浜
- Year and Date
  2008-09-30
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] 14番染色体母性片親性ダイソミーは Prader-Willi 症候群の鑑別疾患である2008
- Author(s)
  鏡雅代
- Organizer
  第42回日本小児内分泌学会学術集会
- Place of Presentation
  米子
- Year and Date
  2008-10-04
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] シルバーラッセル症候群の個体と胎盤におけるIGF2-H19ドメインの解析2008
- Author(s)
  山澤一樹,鏡雅代,和田友香
- Organizer
  第44回日本周産期・新生児医学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群の個体と胎盤におけるIGF2-H19ドメインの解析2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第2回日本エピジェネティクス研究会
- Place of Presentation
  三島
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] Silver-Russell syndrome and the IGF2-H19 domain: molecular and clinical studies in bodies and placentas2008
- Author(s)
  Yamazawa K, Kagami M, Ogata T
- Organizer
  EMBO Workshop on Genomic Imprinting, No. 44
- Place of Presentation
  Singapore
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群における分子遺伝学的および臨床学的所見とその相関2008
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第42回日本小児内分泌学会
- Place of Presentation
  米子
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] 14番染色体母性片親性ダイソミーはPrader-Willi症候群の鑑別疾患である。2008
- Author(s)
  鏡雅代、斎藤伸治、高桑聖、田中藤樹、緒方勤
- Organizer
  第42回日本小児内分泌学会学術集会
- Place of Presentation
  米子
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] シルバーラッセル症候群の個体と胎盤におけるIGF2-H19ドメインの解析2008
- Author(s)
  山澤一樹,鏡雅代,和田友香
- Organizer
  第12回小児分子内分泌研究会
- Place of Presentation
  小樽
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] 14番染色体父親性ダイソミー、母親性ダイソミーの表現型を招く疾患発症機序の解明2008
- Author(s)
  鏡雅代、加藤芙美子、西村玄、田中葉子、黒澤健司、石野史敏、緒方勤
- Organizer
  第111回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390101
[Presentation] シルバーラッセル症候群およびIUGRにおける第7、11番染色体のメチル化解析2007
- Author(s)
  山澤一樹, 鏡雅代, 和田友香
- Organizer
  第43回日本周産期・新生児医学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] シルバーラッセル症候群におけるH19-メチル化可変領域のエピ変異と個体および胎盤表現型の検討2007
- Author(s)
  山澤一樹,鏡雅代,緒方勤
- Organizer
  第41回日本小児内分泌学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19790752
[Presentation] 14番染色体父親性ダイソミー症候群の遺伝学的病因別頻度の解明
- Author(s)
  鏡　雅代
- Organizer
  第35回日本小児遺伝学会学術集会
- Place of Presentation
  久留米
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] インプリンティング異常症
- Author(s)
  鏡雅代
- Organizer
  第28回北陸小児内分泌学会
- Place of Presentation
  金沢
- Invited
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] インプリンティング異常症と生殖補助医療
- Author(s)
  鏡雅代
- Organizer
  第54回日本卵子学会
- Place of Presentation
  東京
- Invited
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 本邦における14番染色体母親性ダイソミーおよび類縁疾患に関する検討：遺伝学的原因および臨床像.
- Author(s)
  鏡雅代, 長崎啓祐, 依藤亨, 中村明枝, 沼倉周彦, 緒方勤, 深見真紀, 斉藤伸治
- Organizer
  第17回小児分子内分泌研究会
- Place of Presentation
  北海道
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 本邦における14番染色体母親性ダイソミーおよび類縁疾患に関する検討：遺伝学的原因および臨床像
- Author(s)
  鏡雅代, 長崎啓祐, 依藤亨, 中村明枝, 沼倉周彦, 緒方勤, 深見真紀, 齋藤伸治
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] インプリンティング異常症.
- Author(s)
  鏡雅代
- Organizer
  Forum on Growth Hormone Research 2013
- Place of Presentation
  京都
- Invited
- Data Source
  KAKENHI-PROJECT-23390083
[Presentation] 14番染色体父親性ダイソミー症候群：遺伝学的病因、臨床像、治療.
- Author(s)
  鏡雅代, 西村玄, 黒澤健司, 柴崎淳, 左合治彦, 深見真紀, 緒方勤
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23390083

1. YAMAZAWA Kazuki (10338113)

# of Collaborated Projects: 7 results

# of Collaborated Products: 54 results
2. OGATA Tsutomu (40169173)

# of Collaborated Projects: 7 results

# of Collaborated Products: 91 results
3. 松原圭子 (90542952)

# of Collaborated Projects: 6 results

# of Collaborated Products: 35 results
4. TAKADA Shuji (20382856)

# of Collaborated Projects: 4 results

# of Collaborated Products: 17 results
5. NAKABAYASHI Kazuhiko (10415557)

# of Collaborated Projects: 4 results

# of Collaborated Products: 11 results
6. FUKAMI Maki (40265872)

# of Collaborated Projects: 3 results

# of Collaborated Products: 9 results
7. TSUTSUI Kazuyoshi (20163842)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. Sano Shinichiro (60535574)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
9. WADA Yuka (80399485)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. Kato Fumiko (10462798)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. 松岡健太郎 (90286443)

# of Collaborated Projects: 1 results

# of Collaborated Products: 7 results
12. 遠藤大輔 (90516288)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. 関田洋一 (20431950)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. 川崎友之 (90751701)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. MATSUNAGA Tatsuo

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
16. AKUTSU Hidenori

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. SAWAKI Hamako

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. TAKEDA Yuriko

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
19. SANEFUJI Masafumi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
20. 藤澤泰子

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results

KAGAMI Masayo 鏡 雅代

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インプリンティング異常症エピ変異の病態およびDNAメチル化維持機構の解明Principal Investigator

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Elucidation of the function of miRNAs at the 14q32.2 imprinted region in the placental development and hepatoblastoma developmentPrincipal Investigator

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Elucidation of the onset mechanism of human imprinting disorders using the method of methylation analysis with high-density DNA methylation arraysPrincipal Investigator

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Paternal uniparental disomy 14 and related conditions: Placental expression analyses and histological examinationPrincipal Investigator

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ヒト生殖系列におけるインプリンティング制御機構の解明Principal Investigator

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KAGAMI Masayo 鏡雅代

[Book] エピジェネティクスと病気, インプリント異常症遺伝子医学 MOOK252013