MATSUBARA Keiko 松原圭子

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MATSUBARA KEIKO 松原圭子

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Researcher Number	90542952
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, ダイバーシティ研究室, 室長 2025: 国立研究開発法人国立成育医療研究センター, 成育こどもシンクタンク, 研究員
Affiliation (based on the past Project Information) *help	2024 – 2025: 国立研究開発法人国立成育医療研究センター, ダイバーシティ研究室, 室長 2019 – 2023: 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 上級研究員 2016 – 2018: 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, 研究員 2017: 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, 上級研究員 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, 研究員 … More 2013 – 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, 研究員 2011: (独)国立成育医療研究センター, 分子内分泌研究部, 共同研究員 2011: 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 研究員 2010: 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 共同研究員 Less
Review Section/Research Field	Principal Investigator Pediatrics / Embryonic/Neonatal medicine Except Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 54040:Metabolism and endocrinology-related / Pediatrics / Human genetics
Keywords	Principal Investigator インプリンティング異常症 / Prader-Willi症候群 / 先天異常 / 遺伝学 / 染色体構造異常 / メチル化異常 / 染色体微細構造異常 / 筋緊張低下 / インプリンティング疾患 / Prader Willi症候群 … More / インプリンティング / DNAメチル化 / プラダーウィリ症候群 / エピ変異 / ＤＮＡメチル化 / 生殖補助医療 / トリソミーレスキュー / 高齢出産 … More Except Principal Investigator ヒドロキシメチル化 / ゲノムインプリンティング / メチル化 / 先天異常症候群 / インプリンティング / エピジェネティクス / エクソーム解析 / DNAメチル化解析 / NDNF遺伝子 / エピゲノム / ゲノム / 網羅的メチル化解析 / 網羅的 / アレイ / メチル化解析 / インプリンティング異常症 / MLID / DNAメチル化 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)
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)
網羅的遺伝子・エピゲノム解析による性成熟疾患の病因の解明
- Principal Investigator
  
  鈴木江莉奈
- Project Period (FY)
  2020 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 54040:Metabolism and endocrinology-related
- Research Institution
  National Center for Child Health and Development
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)
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)
The frequency of cases with imprinting disorders in hypotonic neonates and infantsPrincipal Investigator
- Principal Investigator
  
  Matsubara Keiko
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  National Center for Child Health and Development
Elucidation of the onset mechanism of human imprinting disorders using the method of methylation analysis with high-density DNA methylation arrays
- 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
The role of imprinting control region in regulating imprinting status in 15q11-13 among patients with Prader-Willi syndromePrincipal Investigator
- Principal Investigator
  
  MATSUBARA KEIKO
- Project Period (FY)
  2013 – 2014
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development
The changing frequency of genetic causes for Prader-Willi syndrome in Japan.Principal Investigator
- Principal Investigator
  
  MATSUBARA Keiko
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development

All 2023 2022 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 Other

All Journal Article Presentation Book

[Book] ヒトインプリンティング疾患2017
- Author(s)
  松原　圭子
- Total Pages
  357
- Publisher
  医歯薬出版株式会社
- Data Source
  KAKENHI-PROJECT-15K09734
[Book] Prader-Willi症候群の基礎と臨床2011
- Author(s)
  松原圭子、緒方勤
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-22791022
[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] 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] 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] 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] (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] 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] Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.2017
- Author(s)
  Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T.
- Journal Title
  
  Clinical Genetics
  
  Volume: 91 Issue: 5 Pages: 653-660
- DOI
  10.1111/cge.12928
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K19538, KAKENHI-PROJECT-15K09734
[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] 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] Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations.2016
- Author(s)
  Suzuki E, Shima H, Toki M, Hanew K, Matsubara K, Kurahashi H, Narumi S, Ogata T, Kamimaki T, *Fukami M.
- Journal Title
  
  Cytogenet Genome Res
  
  Volume: 150 Issue: 2 Pages: 86-92
- DOI
  10.1159/000455026
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15H04710, KAKENHI-PROJECT-15K19538, KAKENHI-PROJECT-15K09734
[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] 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] Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14.2015
- Author(s)
  Suzumori N, Kagami M, Kumagai K, Goto S, Matsubara K, Sano S, Sugiura-Ogasawara M.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 167(10) Issue: 10 Pages: 2474-7
- DOI
  10.1002/ajmg.a.37194
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09734, KAKENHI-PROJECT-24592478, KAKENHI-PROJECT-25462571
[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 and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations2014
- Author(s)
  Maeda T, Higashimoto K, Jozaki K, Hitomi H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H
- Journal Title
  
  Genet Med
  
  Volume: 16(12) Issue: 12 Pages: 903-912
- DOI
  10.1038/gim.2014.46
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25460409, KAKENHI-PROJECT-25461554, KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-25860898, KAKENHI-PROJECT-26670169
[Journal Article] 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] Uniparental disomy of chromosome 8 leading to homozygosity of a <i>CYP11B1</i> mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder2014
- Author(s)
  K. Matsubara, N. Kataoka, S. Ogita, S. Sano, T. Ogata, M. Fukami and N. Katsumata
- Journal Title
  
  Endocr J
  
  Volume: 61 Issue: 6 Pages: 629-633
- DOI
  10.1507/endocrj.EJ13-0509
- NAID
  130004770452
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23591523, KAKENHI-PROJECT-25860898
[Journal Article] A novel de novo point mutation of OCT-binding site in the IGF2/H19-imprinting control region in a patient with Beckwith-Wiedemann syndrome.2013
- Author(s)
  Higashimoto K, Jozaki K, Kosho T, Matsubara K, Sato T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, SoejimaH*
- Journal Title
  
  Clin Genet
  
  Volume: in press Issue: 6 Pages: 539-544
- DOI
  10.1111/cge.12318
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23249015, KAKENHI-PROJECT-23659181, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25461554, KAKENHI-PROJECT-25461648, KAKENHI-PROJECT-25860898, KAKENHI-PROJECT-26670169
[Journal Article] 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] Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.2013
- Author(s)
  Matsubara K, Ogata T*
- Journal Title
  
  J Hum Genet
  
  Volume: 58 Issue: 3 Pages: 118-119
- DOI
  10.1038/jhg.2013.4
- NAID
  10031164067
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25860898
[Journal Article] Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion.2013
- Author(s)
  Ayabe T, Matsubara K, Ogata T, Ayabe A, Murakami N, Nagai T, Fukami M*
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161 Issue: 6 Pages: 1495-1497
- DOI
  10.1002/ajmg.a.35893
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390249, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-25860898
[Journal Article] Mosaic upd(7)mat in a patient with Silver-Russell syndrome: correlation between phenotype and mosaic ratio in the body and the placenta.2012
- Author(s)
  T. Fuke-Sato, K. Yamazawa, K. Nakabayashi, K. Matsubara, K. Matsuoka, T. Hasegawa, K. Dobashi, T. Ogata.
- Journal Title
  
  Am. J. Med. Genet. A.
  
  Volume: 158A Issue: 2 Pages: 465-468
- DOI
  10.1002/ajmg.a.34404
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22791022
[Journal Article] 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 Genet
- Data Source
  KAKENHI-PROJECT-22791022
[Journal Article] Mosaic upd(7) mat in a patient with Silver-Russell syndrome2012
- Author(s)
  Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T
- Journal Title
  
  Am J Med Genet A
  
  Volume: 158A(2) Pages: 465-8
- Data Source
  KAKENHI-PROJECT-22791022
[Journal Article] Maternal age effect on the development of Prader-Willi syndrome resulting from upd (15) mat through meiosis 1 errors2011
- Author(s)
  K.Matsubara, N.Murakami, T.Nagai, T Ogata, et al
- Journal Title
  
  J.Hum.Genet.
  
  Volume: 56 Issue: 8 Pages: 566-571
- DOI
  10.1038/jhg.2011.59
- NAID
  10030660380
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22791022
[Journal Article] Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15) mat through meiosis 1 errors2011
- Author(s)
  Matsubara K, Murakami N, Nagai T, Ogata T
- Journal Title
  
  J Hum Genet
  
  Volume: 56(8) Pages: 566-571
- NAID
  10030660380
- Data Source
  KAKENHI-PROJECT-22791022
[Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.2011
- Author(s)
  Yamazawa K, Nakabyashi K, Matsuoka K, Matsubara K, Hata K, Horikawa R, Ogata T.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 56(1) Pages: 91-93
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22791022
[Journal Article] The IG-DM and 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 Genetics
  
  Volume: 17;6(6)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22791022
[Journal Article] Prenatal findings of paternal uniparental disomy 14 : Delineation of further patient2010
- Author(s)
  Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M
- Journal Title
  
  Am J Med Genet A
  
  Volume: 152A(12) Pages: 3189-92
- Data Source
  KAKENHI-PROJECT-22791022
[Journal Article] Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency.2010
- Author(s)
  Matsubara K, Iwamoto H, Yoshida A, Ogata T
- Journal Title
  
  Fertility and Sterility
  
  Volume: 94(7)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22791022
[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 Genet
  
  Volume: 6 Pages: 1000992-1000992
- Data Source
  KAKENHI-PROJECT-22791022
[Journal Article] Prenatal findings of paternal uniparental disomy 14 : Delineation of further patient2010
- Author(s)
  Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M
- Journal Title
  
  American Journal of Medical Genetics A
  
  Volume: 152A(12) Pages: 3189-92
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22791022
[Journal Article] Growth Hormone Secretion and its Effect on Height in Pediatric Patients with Different Genotypes of Prader-Willi Syndrome
- Author(s)
  Oto Y, Obata K, Matsubara K, Kozu Y, Tsuchiya T, Sakazume S, Yoshino A, Murakami N, Ogata T, Nagai T
- Journal Title
  
  Am J Med Genet A
  
  Volume: 158A(6) Pages: 1477-80
- Data Source
  KAKENHI-PROJECT-22791022
[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] 種々の発症原因を有するインプリンティング疾患患者127名におけるMultilocus Methylation Defectsの検討2017
- Author(s)
  松原　圭子、中村　明枝、井上　毅信、川嶋　明香、深見　真紀、鏡　雅代
- Organizer
  第62回人類遺伝学会
- Data Source
  KAKENHI-PROJECT-15K09734
[Presentation] 種々の発症原因を有するインプリンティング疾患患者127名におけるMultilocus Methylation Defectsの検討2017
- Author(s)
  松原　圭子、中村　明枝、井上　毅信、川嶋　明香、深見　真紀、鏡　雅代
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09734
[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] The DNA methylation status at imprinted differentially methylated regions in the patients with hypomorphic mutations in INSR or IGF1R gene2016
- Author(s)
  Matsubara K, Kawashima Y, Nakabayashi K, Nakamura A, Inoue T, Hata K, Kagami M
- Organizer
  第50回小児内分泌学会／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
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09734
[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] Risk assessment of assisted reproductive technology and advanced maternal ages in the development of uniparental disomy2016
- Author(s)
  Keiko Matsubara
- Organizer
  ICHG/第61回人類遺伝学会
- Place of Presentation
  京都
- Year and Date
  2016-04-03
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09734
[Presentation] INSRまたはIGF1R遺伝子機能低下型変異を有する症例のDMRにおけるメチル化状態の評価2016
- Author(s)
  松原圭子、鞁嶋有紀、中林一彦、中村明枝、井上毅信、秦健一郎、深見真紀、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
- Data Source
  KAKENHI-PROJECT-15K09734
[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] Risk assessment of assisted reproductive technology and advanced maternal ages in the development of uniparental disomy2016
- Author(s)
  Keiko Matsubara, Nobuyuki Murakami, Maki Fukami, Masayo Kagami, Toshiro Nagai, and Tsutomu Ogata
- Organizer
  International Prader-Willi syndrome Organization
- Place of Presentation
  Tronto, Canada
- Year and Date
  2016-07-20
- Data Source
  KAKENHI-PROJECT-15K09734
[Presentation] 顕微授精により出生しSilver-Russell症候群の表現型の有無に差のある品胎に対する網羅的メチル化解析2015
- Author(s)
  松原圭子、長崎啓祐、中村明枝、佐野伸一朗、深見真紀、緒方勤、鏡雅代
- Organizer
  第60回人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2015-10-15
- Data Source
  KAKENHI-PROJECT-15K09734
[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] 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] 生殖補助医療と高齢出産が片親性ダイソミー発症に及ぼす影響について考える2015
- Author(s)
  松原圭子
- Organizer
  第38回分子生物学会
- Place of Presentation
  神戸
- Year and Date
  2015-12-01
- Invited
- Data Source
  KAKENHI-PROJECT-15K09734
[Presentation] 顕微授精により出生しSilver-Russell症候群の表現型の有無に差のある品胎に対する網羅的メチル化解析2015
- Author(s)
  松原圭子、長崎啓祐、中村明枝、佐野伸一朗、深見真紀、緒方勤、鏡雅代
- Organizer
  第49回小児内分泌学会
- Place of Presentation
  東京
- Year and Date
  2015-10-08
- Data Source
  KAKENHI-PROJECT-15K09734
[Presentation] 15番染色体インプリンティング調節領域欠失症例の網羅的メチル化解析2014
- Author(s)
  松原圭子、伊藤順庸、中林一彦、佐野伸一朗、中村明枝、秦健一郎、緒方勤、深見真紀、斎藤伸治、鏡雅代
- Organizer
  第37回日本小児遺伝学会学術集会
- Place of Presentation
  名古屋
- Year and Date
  2014-04-10
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] Assessment of adrenal function in patients with Prader-Willi syndrome.2013
- Author(s)
  Matsubara Keiko, Shiraishi Masahisa, Murakami Nobuyuki, Tsuchiya Takayoshi, Oto Yuji, Kagami Masayo, Fukami Maki, Ogata Tsutomu, Nagai Toshiro
- Organizer
  International Prader-WIlli syndrome organization
- Place of Presentation
  Cambridge
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] ヒトインプリンティング異常症498症例に対する包括的解析2013
- Author(s)
  松原圭子、福家智子、佐野伸一朗、中林一彦、秦健一郎、緒方勤、深見真紀、鏡雅代
- Organizer
  第４７回小児内分泌学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] Assessment of adrenal function in patients with Prader-Willi syndrome.2013
- Author(s)
  Matsubara Keiko, Shiraishi Masahisa, Murakami Nobuyuki, Tsuchiya Takayoshi, Oto Yuji, Kagami Masayo, Fukami Maki, Ogata Tsutomu, Nagai Toshiro
- Organizer
  European society of pediatric endoclonology
- Place of Presentation
  Milan
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] ヒトインプリンティング異常症498症例に対する包括的解析2013
- Author(s)
  松原圭子、福家智子、佐野伸一朗、中林一彦、秦健一郎、緒方勤、深見真紀、鏡雅代
- Organizer
  第５７回人類遺伝学会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] Prader-Willi症候群患者における副腎機能2013
- Author(s)
  松原圭子、白石昌久、村上信行、土屋貴義、大戸祐二、深見真紀、永井敏郎
- Organizer
  第１１６回小児科学会
- Place of Presentation
  広島
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] 生殖補助医療と片親性ダイソミー発症リスク,Risk assessment of ART and its related factors in the development of UPD2013
- Author(s)
  松原圭子、福家智子、鏡雅代、深見真紀、永井敏郎、緒方勤
- Organizer
  第１１６回小児科学会
- Place of Presentation
  広島
- Invited
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか2011
- Author(s)
  松原圭子、村上信行、坂爪悟、大戸祐二、緒方勤、永井敏郎
- Organizer
  第34回小児遺伝学会
- Place of Presentation
  横浜
- Year and Date
  2011-08-11
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか?2011
- Author(s)
  松原圭子、村上信行、佐藤智子、鏡雅代、永井敏郎、深見真紀、緒方勤
- Organizer
  第45回小児内分泌学会
- Place of Presentation
  大宮
- Year and Date
  2011-10-06
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか?2011
- Author(s)
  松原圭子、村上信行、佐藤智子、鏡雅代、坂爪悟、大戸祐二、緒方勤、永井敏郎
- Organizer
  第34回小児遺伝学会
- Place of Presentation
  横浜
- Year and Date
  2011-08-01
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] Risk assessment of ART and its related factors in the development of Prader-Willi syndrome2011
- Author(s)
  Keiko Matsubara, Nobuyuki Murakami, Satoru Sakazume, Yuji Oto, Toshiro Nagai, Tsutomu Ogata
- Organizer
  61st, The American Society of Human Genetics
- Place of Presentation
  Montreal
- Year and Date
  2011-10-11
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] Risk assessment of ART and its related factors in the development of Prader-Willi syndrome2011
- Author(s)
  Keiko Matsubara, Nobuyuki Murakami, Satoru Sakazume, Yuji Oto, Toshiro Nagai, Tsutomu Ogata
- Organizer
  American Society of Human Genetics
- Place of Presentation
  Montreal, Canada
- Year and Date
  2011-10-11
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] Risk assessment of ART and its related factors in the development of Prader-Willi syndrome2011
- Author(s)
  Keiko Matsubara, Nobuyuki Murakami, Satoru Sakazume, Yuji Oto, Toshiro Nagai, Tsutomu Ogata
- Organizer
  European Human Genetics Conference
- Place of Presentation
  Amsterdam
- Year and Date
  2011-05-27
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである:Prader-Willi症候群154例の分子遺伝学的解析2011
- Author(s)
  松原圭子、佐藤智子、鏡雅代、永井敏郎、緒方勤
- Organizer
  第114回小児科学会
- Place of Presentation
  東京
- Year and Date
  2011-08-12
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] Risk assessment of ART and its related factors in the development of Prader-Willi syndrome2011
- Author(s)
  Keiko Matsubara, Nobuyuki Murakami, Satoru Sakazume, Yuji Oto, Toshiro Nagai, Tsutomu Ogata
- Organizer
  European Human Genetics Conference
- Place of Presentation
  Amsterdam The Netherland
- Year and Date
  2011-05-27
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか?2011
- Author(s)
  松原圭子、村上信行、佐藤智子、鏡雅代、永井敏郎、深見真紀、緒方勤
- Organizer
  第56回人類遺伝学会
- Place of Presentation
  千葉
- Year and Date
  2011-11-10
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか2011
- Author(s)
  松原圭子、村上信行、佐藤智子、鏡雅代、永井敏郎、深見真紀、緒方勤
- Organizer
  第45回小児内分泌学会
- Place of Presentation
  大宮
- Year and Date
  2011-10-06
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか2011
- Author(s)
  松原圭子、村上信行、佐藤智子、鏡雅代、永井敏郎、深見真紀、緒方勤
- Organizer
  第56回人類遺伝学会
- Place of Presentation
  千葉
- Year and Date
  2011-11-10
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである: Prader-Willi症候群154例の分子遺伝学的解析2010
- Author(s)
  松原圭子、佐藤智子、鏡雅代、永井敏郎、緒方勤
- Organizer
  第55回人類遺伝学会
- Place of Presentation
  大宮
- Year and Date
  2010-10-07
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである:Prader-Willi症候群154例の分子遺伝学的解析2010
- Author(s)
  松原圭子
- Organizer
  小児内分泌学会
- Place of Presentation
  大阪
- Year and Date
  2010-10-07
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] Advanced maternal age increases the UPD proportion of PWS2010
- Author(s)
  Murakami N, Matsubara K, Obata K, Sakazume S、Kido Y, Ogata T, Nagai T
- Organizer
  Annual meeting of American society of human genetics
- Place of Presentation
  Washington D. C.
- Year and Date
  2010-11-02
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] 日本女性の出産年齢上昇に伴うPrader-Willi症候群の発症病因の変化2010
- Author(s)
  松原圭子、佐藤智子、鏡雅代、永井敏郎、緒方勤
- Organizer
  第4回日本エピジェネティクス研究会
- Place of Presentation
  鳥取
- Year and Date
  2010-05-28
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] 女性晩婚化に伴うプラダー・ウイリー症候群の発症病因の変化-片親性ダイソミーの増加-2010
- Author(s)
  松原圭子、坂爪悟、城戸康宏、緒方勤、永井敏郎
- Organizer
  第33回小児遺伝学会
- Place of Presentation
  仙台
- Year and Date
  2010-04-22
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである: Prader-Willi症候群154例の分子遺伝学的解析2010
- Author(s)
  松原圭子、佐藤智子、鏡雅代、永井敏郎、緒方勤
- Organizer
  第14回小児分子内分泌研究会
- Place of Presentation
  北海道
- Year and Date
  2010-07-03
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである: Prader-Willi症候群154例の分子遺伝学的解析2010
- Author(s)
  松原圭子、佐藤智子、鏡雅代、永井敏郎、緒方勤
- Organizer
  第44回小児内分泌学会
- Place of Presentation
  大阪
- Year and Date
  2010-11-20
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15) mat through meiosis 1 errors2010
- Author(s)
  Matsubara K, Sato T, Kagami M, Nagai T and Ogata T
- Organizer
  International Symposium on epigenome network, development and reprogramming of germ cells
- Place of Presentation
  Fukuoka
- Year and Date
  2010-11-22
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである: Prader-Willi症候群117例の分子遺伝学的解析2010
- Author(s)
  松原圭子、村上信行、佐藤智子、鏡雅代、永井敏郎、緒方勤
- Organizer
  第16回生殖内分泌学会
- Place of Presentation
  大阪
- Year and Date
  2010-11-20
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] MATERNAL AGE EFFECTS ON THE CHANGING PROPORTION OF GENETIC CAUSES OF PRADER-WILLI SYNDROME IN JAPAN2010
- Author(s)
  Matsubara K, Kozu Y, Sakazume S, Murakami N, Ogata T, Nagai T
- Organizer
  7th International PWS Conference
- Place of Presentation
  Taipei
- Year and Date
  2010-05-20
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] MATERNAL AGE EFFECTS ON THE CHANGING PROPORTION OF GENETIC CAUSES OF PRADER-WILLI SYNDROME IN JAPAN2010
- Author(s)
  Matsubara K, Kozu Y, Obata K, Murakami N, Saito S, Ogata T, Nagai T
- Organizer
  14th International Congress of Endocrinology
- Place of Presentation
  Tokyo
- Year and Date
  2010-04-01
- Data Source
  KAKENHI-PROJECT-22791022
[Presentation] Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia
- Author(s)
  Keiko Matsubara, Naoki Kataoka, Satoko Ogita, Shinichiro Sano,Tsutomu Ogata, Maki Fukami, Noriyuki Katsumata
- Organizer
  第48回小児内分泌学会
- Place of Presentation
  浜松
- Year and Date
  2014-09-25 – 2014-09-27
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] Comprehensive analysis for 567 patients with clinical features of human imprinting disorders.
- Author(s)
  Keiko Matsubara, Tomoko Fuke, Shinichiro Sano, Kazuhiko Nakabayashi, Kenichiro Hata, Tsutomu Ogata, Maki Fukami, Masayo Kagami
- Organizer
  014 PAS annual meeting
- Place of Presentation
  Vancouver
- Year and Date
  2014-05-03 – 2014-05-06
- Invited
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] PWS/AS責任領域の非典型的な欠失を有する症例に対する網羅的メチル解析
- Author(s)
  松原圭子、伊藤順庸、中林一彦、佐野伸一朗、中村明枝、秦健一郎、緒方勤、深見真紀、斎藤伸治、鏡雅代
- Organizer
  第59回人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] 15番染色体インプリンティング調節領域欠失症例の網羅的メチル化解析
- Author(s)
  松原圭子、伊藤順庸、中林一彦、佐野伸一朗、中村明枝、秦健一郎、緒方勤、深見真紀、斎藤伸治、鏡雅代
- Organizer
  第8回エピジェネティクス研究会
- Place of Presentation
  東京
- Year and Date
  2014-05-25 – 2014-05-27
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] PWS/AS責任領域の非典型的な欠失を有する症例に対する網羅的メチル解析
- Author(s)
  松原圭子、伊藤順庸、中林一彦、佐野伸一朗、中村明枝、秦健一郎、緒方勤、深見真紀、斎藤伸治、鏡雅代
- Organizer
  第48回小児内分泌学会
- Place of Presentation
  浜松
- Year and Date
  2014-09-25 – 2014-09-27
- Data Source
  KAKENHI-PROJECT-25860898
[Presentation] 新生児・乳児期に成長障害および筋緊張低下を示すインプリンティング異常症
- Author(s)
  松原圭子、水野誠司、鏡雅代
- Organizer
  第59回　日本未熟児新生児学会
- Place of Presentation
  愛媛
- Year and Date
  2014-11-10 – 2014-11-12
- Data Source
  KAKENHI-PROJECT-25860898

1. Kagami Masayo (70399484)

# of Collaborated Projects: 5 results

# of Collaborated Products: 30 results
2. Yamazawa Kazuki (10338113)

# of Collaborated Projects: 4 results

# of Collaborated Products: 20 results
3. 中林一彦 (10415557)

# of Collaborated Projects: 2 results

# of Collaborated Products: 5 results
4. Shibasaki Jun (30540471)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. TAKADA SHUJI (20382856)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 和田友香 (80399485)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. 鈴木江莉奈 (60726785)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
8. MATSUNAGA Tatsuo

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. AKUTSU Hidenori

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. OGATA Tsutomu

# of Collaborated Projects: 0 results

# of Collaborated Products: 14 results
11. FUKAMI Maki

# of Collaborated Projects: 0 results

# of Collaborated Products: 8 results
12. 倉橋浩樹

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

MATSUBARA Keiko 松原 圭子

MATSUBARA KEIKO 松原 圭子

Research Projects

Research Products

Co-Researchers

Elucidation of 5mC/5hmC Profiles and Development of Therapeutic Strategies for Imprinting Disorders

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Creation of treatment strategies for imprinting disorders through hydroxymethylation profiling

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網羅的遺伝子・エピゲノム解析による性成熟疾患の病因の解明

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Review Section

Research Institution

The role of hydroxymethylation in imprinting diseases caused by abnormal methylation

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Review Section

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Pathologic clarification and development of new medicine for imprinting disorders in terms of hydroxymethylation

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The frequency of cases with imprinting disorders in hypotonic neonates and infantsPrincipal 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 arrays

Principal Investigator

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The role of imprinting control region in regulating imprinting status in 15q11-13 among patients with Prader-Willi syndromePrincipal Investigator

Principal Investigator

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Research Institution

The changing frequency of genetic causes for Prader-Willi syndrome in Japan.Principal Investigator

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[Book] ヒトインプリンティング疾患2017

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[Book] Prader-Willi症候群の基礎と臨床2011

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[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

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[Journal Article] Pathogenic copy number and sequence variants in children born SGA with short stature without imprinting disorders2022

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[Journal Article] Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system2022

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Journal Title

MATSUBARA Keiko 松原圭子

MATSUBARA KEIKO 松原圭子