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yamamoto toshiyuki  山本 俊至

… Alternative Names

Yamamoto Toshiyuki  山本 俊至

YAMAMOTO Toshiyuki  山本 俊至

山本 俊至  ヤマモト トシユキ

Less
Researcher Number 20252851
Other IDs
  • ORCIDhttps://orcid.org/0000-0002-9484-3505
Affiliation (Current) 2025: 東京女子医科大学, 医学部, 教授
Affiliation (based on the past Project Information) *help 2017 – 2024: 東京女子医科大学, 医学部, 教授
2015 – 2016: 東京女子医科大学, 医学部, 准教授
2013: 東京女子医科大学, 医学部, 教授
2010 – 2012: 東京女子医科大学, 医学部, 准教授
2010: 東京女子医科大学, 付置研究所, 准教授 … More
2008 – 2009: 東京女子医科大学, 付置研究所, 講師
2008 – 2009: Tokyo Women's Medical University, 国際統合医科学インスティテュート, 准教授
2007: Tokyo Women's Medical University, 国際統合医科学インスティテュート, 講師
2002: 鳥取大, 助手
2001 – 2002: 鳥取大学, 遺伝子実験施設, 助手
1998 – 1999: 鳥取大学, 遺伝子実験施設, 助手
1995 – 1996: 鳥取大学, 遺伝子実験施設, 助手
1994: 鳥取大学, 医学部, 助手 Less
Review Section/Research Field
Principal Investigator
Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics / Pediatrics / Biological Sciences / Neurochemistry/Neuropharmacology
Except Principal Investigator
Basic Section 52050:Embryonic medicine and pediatrics-related / Basic Section 53020:Cardiology-related / Pediatrics / Embryonic/Neonatal medicine / Pediatrics / Embryonic/Neonatal medicine
Keywords
Principal Investigator
ゲノムコピー数 / マイクロアレイ / ゲノム / マイクロアレイ染色体検査 / ロングリードシーケンス / 染色体構造異常 / 発達障害 / アレイCGH / 中枢神経障害 / Pelizaeus-Merzbacher病 … More / WAGR症候群 / リピート / バリアント / 染色体異常 / inv-dup-del / DUP-INV/TRP-DUP / chromothripsis / 染色体微細異常 / DUP-TRP/INV-DUP / INV-DUP-DEL / 染色体サブテロメア / 全ゲノム解析 / long-read sequencer / 染色体微細構造異常 / long sequence / デジタルPCR / 神経発達障害 / ゲノムコピー数変化 / 次世代シーケンス / ゲノム構造異常 / ゲノム編集 / 遺伝子ノックダウン / シナプス機能 / ヒトiPS細胞 / ゲノムコピー数異常 / 形態異常 / シナプス伝達異常 / 中枢神経 / 疾患iPS細胞 / 小児 / iPS細胞 / LIS1遺伝子 / 染色体重複 / 染色体微細欠失 / fiber-FISH / 先天異常学 / 遺伝 / Fiver-FISH法 / CGHアレイ / ゲノム病 / fiver-FISH法 / ゲノムコピー数多型 / 発生・分化 / 人類学 / 遺伝子 / 原因遺伝子 / ゲノム刷り込み現象 / ウイルス動脈輪経閉塞症 / モヤモヤ病 / ハマルチン / 結節性硬化症 / Proteolipid protein遺伝子 / 髄鞘形成不全症 … More
Except Principal Investigator
巣状分節性糸球体硬化症 / ERストレス / アストロサイト / MLC1 / ゲノム編集 / 治療法開発 / 抗ネフリン抗体 / 免疫・炎症 / 接着分子 / T細胞 / サイトカイン / 炎症 / 動脈硬化 / 遺伝子変異 / 早発性冠動脈疾患 / 家族性高コレステロール血症 / RNA sequencing / ネフリン / 蛋白尿 / ポドサイト / mitotic catastrophe / 細胞周期 / 尿中ポドサイト / ネフローゼ症候群 / lysosomal storage disease / treatment / chemical chaperon / G_<M1>-ガングリオドシドーシス / 先天代謝異常症 / 中枢神経障害 / GM1-ガングリオシドーシス / 先天代謝異常 / 低分子物質 / 治療 / 中枢神経 / ケミカルシャペロン / Prader-Willi syndrome / Fragile X syndrome / BRAIN DYSPLASIA / BRAIN MALFORMATION / BRAIN DEVELOPMENT / 母斑症 / Carbohydrate-deficient glycoprotein症候群 / 奇形症候群 / Prader-Willi症候群 / 脆弱X染色体 / プラダー・ビリ-症候群 / 神経成長因子 / プラダーヴィリ-症候群 / 脆弱X症候群 / 脳形成不全 / 脳奇形 / 脳形成 / 遺伝学的解析 / てんかん / 小児 / プロモーター / SCN1A / 体細胞モザイク / 微小欠失 / 非翻訳領域 / Dravet症候群 / SCN1A遺伝子 / 8-イソプロスタン / P-セレクチン / アンギオテンシン変換酵素 / エリスロポエチン / リボゾーム蛋白 / 臍帯血 / RNA発現解析 / 脳室周囲白質軟化症 / ドコサヘキサエン酸 / トロンボキサンA2 / 脂肪酸組成 / RNA発現 / 胎児発育不全 / 新生児脳障害 Less
  • Research Projects

    (18 results)
  • Research Products

    (451 results)
  • Co-Researchers

    (41 People)
  •  Development of treatment for late-onset renal dysfunction in WAGR syndromePrincipal Investigator

    • Principal Investigator
      山本 俊至
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Tokyo Women's Medical University
  •  巣状分節性糸球体硬化症の遺伝子解析と抗ネフリン抗体に基づく移植後再発予測法の確立

    • Principal Investigator
      三浦 健一郎
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Tokyo Women's Medical University
  •  Pathophysiology analysis for the development of therapeutic methods for megalencephalic leukoencephalopathy

    • Principal Investigator
      下島 圭子
    • Project Period (FY)
      2023 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Tokyo Women's Medical University
  •  Investigation of disease progression in difficult-to-treat nephrotic syndrome using urinary podocytes

    • Principal Investigator
      Miura Kenichiro
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Tokyo Women's Medical University
  •  Mechanisms of complex chromosome structural abnormalities elucidated from transposons and three-dimensional structuresPrincipal Investigator

    • Principal Investigator
      Yamamoto Toshiyuki
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Tokyo Women's Medical University
  •  早発性冠動脈疾患を発症する家族性高コレステロール血症の獲得免疫異常と遺伝子変異

    • Principal Investigator
      佐藤 加代子
    • Project Period (FY)
      2021 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 53020:Cardiology-related
    • Research Institution
      Tokyo Women's Medical University
  •  Elucidation of the mechanism for neurodevelopmental disorder derived from chromosomal microstructural abnormalitiesPrincipal Investigator

    • Principal Investigator
      Yamamoto Toshiyuki
    • Project Period (FY)
      2018 – 2020
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Tokyo Women's Medical University
  •  Elucidation of synaptic dysfunctions in patients with developmental disorderPrincipal Investigator

    • Principal Investigator
      Yamamoto Toshiyuki
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tokyo Women's Medical University
  •  Conprehensive analysis of SCN1A noncoding region for epileptic disorders

    • Principal Investigator
      NAKAYAMA Tojo
    • Project Period (FY)
      2012 – 2013
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  疾患患者由来iPS細胞の神経系分化誘導による中枢神経発達障害の病態解析Principal Investigator

    • Principal Investigator
      山本 俊至
    • Project Period (FY)
      2011 – 2012
    • Research Category
      Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
    • Review Section
      Biological Sciences
    • Research Institution
      Tokyo Women's Medical University
  •  Comprehensive analysis for genomic contribution in neuron network and transcriptsPrincipal Investigator

    • Principal Investigator
      YAMAMOTO Toshiyuki
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tokyo Women's Medical University
  •  Analyses on Perinatal Brain Injury on the basis of Evaluation of Fetus-Placenta System.

    • Principal Investigator
      OKUMURA Akihisa
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Embryonic/Neonatal medicine
    • Research Institution
      Juntendo University
  •  Contribution of large scale genomic copy number variation in the pathogenesis of congenital disordersPrincipal Investigator

    • Principal Investigator
      YAMAMOTO Toshiyuki
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tokyo Women's Medical University
  •  ゲノム刷り込み現象のスクリーニングによるモヤモヤ病原因遺伝子の単離Principal Investigator

    • Principal Investigator
      山本 俊至
    • Project Period (FY)
      2001 – 2002
    • Research Category
      Grant-in-Aid for Young Scientists (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  A study of the new therapeutic method and the clinical application for central nervous involvement in inherited metabolic diseases.

    • Principal Investigator
      NANBA Eiji
    • Project Period (FY)
      2001 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  中枢神経障害の病態発症における結節性硬化症原因遺伝子1型産物ハマルチンの機能解析Principal Investigator

    • Principal Investigator
      山本 俊至
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Neurochemistry/Neuropharmacology
    • Research Institution
      Tottori University
  •  中枢神経髄鞘形成不全症の遺伝子治療に関する基礎研究Principal Investigator

    • Principal Investigator
      山本 俊至
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Tottori University
  •  Immuno, Molecular and Genetic Studies on Aetiology of Brain Dysplasia

    • Principal Investigator
      TAKESHITA Kenzo
    • Project Period (FY)
      1994 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Embryonic/Neonatal medicine
    • Research Institution
      TOTTORI UNIVERSITY

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2013 2012 2011 2010 2009 2008 2007 Other

All Journal Article Presentation Book

  • [Book] Prof.山本のマイクロアレイ染色体検査入門2021

    • Author(s)
      山本 俊至
    • Total Pages
      136
    • Publisher
      診断と治療社
    • ISBN
      9784787824769
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Book] 症例でわかる小児神経疾患の遺伝学的アプローチ2019

    • Author(s)
      山本俊至
    • Total Pages
      212
    • Publisher
      診断と治療社
    • ISBN
      4787824376
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Book] 1p36欠失症候群ハンドブック2012

    • Author(s)
      山本俊至
    • Total Pages
      152
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Book] 臨床遺伝に関わる人のためのマイクロアレイ染色体検査2012

    • Author(s)
      山本俊至
    • Total Pages
      306
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Book] 臨床遺伝に関わる人のためのマイクロアレイ染色体検査2012

    • Author(s)
      山本俊至
    • Total Pages
      306
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Book] E. 先天異常・染色体異常、実践小児神経科(大野耕策・前垣義弘編)2008

    • Author(s)
      山本俊至
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] てんかんの原因-2イオンチャネル異常, 小児科臨床ピクシス(五十嵐隆, 岡 明編)2008

    • Author(s)
      山本俊至
    • Total Pages
      274
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] アレイCGH診断ガイドブック(稲澤譲治, 蒔田芳男, 羽田 明 編)Allagile症候群2008

    • Author(s)
      山本俊至, 大橋博文
    • Total Pages
      3
    • Publisher
      医薬ジャーナル社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] 遺伝に関する相談にどう答えるか, 小児科臨床ピクシス(五十嵐隆, 岡 明編)2008

    • Author(s)
      山本俊至
    • Total Pages
      274
    • Publisher
      医薬ジャーナル社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] 遺伝に関する相談にどう答えるか、小児科臨床ピクシス(五十嵐隆, 岡明編)2008

    • Author(s)
      山本俊至
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] アレイCGH診断ガイドブック(稲澤譲治, 蒔田芳男, 羽田 明 編)Wolf-Hirschhorn症候群2008

    • Author(s)
      山本俊至, 前垣義弘
    • Total Pages
      3
    • Publisher
      医薬ジャーナル社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] E. 先天異常・染色体異常, 実践小児神経科(大野耕策・前垣義弘編)2008

    • Author(s)
      山本俊至
    • Total Pages
      312
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] Allagile 症候群、アレイCGH診断ガイドブック(稲澤譲治, 蒔田芳男, 羽田明編)2008

    • Author(s)
      山本俊至・大橋博文
    • Publisher
      医薬ジャーナル社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] てんかんの原因-2イオンチャネル異常、小児科臨床ピクシス(五十嵐隆, 岡明編)2008

    • Author(s)
      山本俊至
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] Wolf-Hirschhorn 症候群、アレイCGH診断ガイドブック(稲澤譲治, 蒔田芳男,羽田明編)2008

    • Author(s)
      山本俊至・前垣義弘
    • Publisher
      医薬ジャーナル社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] 知的障害者の健康管理マニュアル(大野耕策 編)、知的障害の原因2007

    • Author(s)
      前垣義弘, 山本俊至
    • Total Pages
      6
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] 知的障害の原因、知的障害者の健康管理マニュアル(大野耕策 編)2007

    • Author(s)
      前垣義弘・山本俊至
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] 知的障害者の健康管理マニュアル(大野耕策 編)、その他の知的障害の原因2007

    • Author(s)
      山本俊至, 前垣義弘
    • Total Pages
      5
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Book] その他の知的障害の原因、知的障害者の健康管理マニュアル (大野耕策 編)2007

    • Author(s)
      山本俊至,・前垣義弘
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder2024

    • Author(s)
      Shimomura R, Yanagishita T, Ishiguro K, Shichiji M, Sato T, Shimojima Yamamoto K, Nagata M, Ishihara Y, Miyashita Y, Ishigaki K, Nagata S, Asano Y, Yamamoto T
    • Journal Title

      Human Genome Variation

      Volume: 11 Issue: 1 Pages: 2-2

    • DOI

      10.1038/s41439-023-00262-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K07257, KAKENHI-PROJECT-21K07873
  • [Journal Article] Haploinsufficiency of <i>NKX2-1</i> is likely to contribute to developmental delay involving 14q13 microdeletions2024

    • Author(s)
      Machida O, Sakamoto H, Shimojima Yamamoto K, Hasegawa Y, Nii S, Okada H, Nishikawa K, Sumimoto S, Nishi E, Okamoto N, Yamamoto T
    • Journal Title

      Intractable & Rare Diseases Research

      Volume: 13 Issue: 1 Pages: 36-41

    • DOI

      10.5582/irdr.2023.01119

    • ISSN
      2186-361X, 2186-3644
    • Year and Date
      2024-02-29
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K07257, KAKENHI-PROJECT-21K07873
  • [Journal Article] A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy2023

    • Author(s)
      Kuroda Yukiko、Matsufuji Mayumi、Enomoto Yumi、Osaka Hitoshi、Takanashi Jun‐Ichi、Yamamoto Toshiyuki、Numata‐Uematsu Yurika、Tabata Kenshiro、Kurosawa Kenji、Inoue Ken
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 191 Issue: 8 Pages: 2245-2248

    • DOI

      10.1002/ajmg.a.63229

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K07192, KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-21H02886
  • [Journal Article] Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C2023

    • Author(s)
      Tamura T, Shimojima Yamamoto K, Imaizumi T, Yamamoto H, Miyamoto Y, Yagasaki H, Morioka I, Kanno H, Yamamoto T
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 191 Issue: 6 Pages: 1632-1638

    • DOI

      10.1002/ajmg.a.63182

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K07257, KAKENHI-PROJECT-21K07873
  • [Journal Article] Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2‐associated syndrome2023

    • Author(s)
      Kurosaka Hiroshi、Yamamoto Sayuri、Hirasawa Kyoko、Yanagishita Tomoe、Fujioka Kaoru、Yagasaki Hideaki、Nagata Miho、Ishihara Yasuki、Yonei Ayumi、Asano Yoshihiro、Nagata Namiki、Tsujimoto Takayuki、Inubushi Toshihiro、Yamamoto Toshiyuki、Sakai Norio、Yamashiro Takashi
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 191 Issue: 7 Pages: 1984-1989

    • DOI

      10.1002/ajmg.a.63225

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Journal Article] Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.2023

    • Author(s)
      Nakahara E, Shimojima Yamamoto K, Ogura H, Aoki T , Utsugisawa T, Azuma K, Akagawa H, Watanabe K, Muraoka M, Nakamura F, Kamei M, Tatebayashi K, Shinozuka J, Yamane T, Hibino M, Katsura Y, Nakano-Akamatsu S, Kadowaki N, Maru Y, Etsuro Ito E, Ohga S, Yagasaki H, Morioka I, Yamamoto T and Kanno H.
    • Journal Title

      Hum Genome Var

      Volume: 10 Issue: 1 Pages: 8-8

    • DOI

      10.1038/s41439-023-00235-y

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19H03506, KAKENHI-PROJECT-20K08239, KAKENHI-PROJECT-23K21429, KAKENHI-PROJECT-21K07873
  • [Journal Article] Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns2023

    • Author(s)
      Shimojima Yamamoto K, Tamura T, Okamoto N, Nishi E, Noguchi A, Takahashi I, Sawaishi Y, Shimizu M, Kanno H, Minakuchi Y, Toyoda A, Yamamoto T
    • Journal Title

      Journal of Human Genetics

      Volume: 68 Issue: 11 Pages: 751-757

    • DOI

      10.1038/s10038-023-01181-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K07257, KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-22H04925
  • [Journal Article] Long-read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements2023

    • Author(s)
      Tamura T, Shimojima Yamamoto K, Okamoto N, Yagasak H, Morioka I, Kanno H, Minakuchi Y, Toyoda A, Yamamoto T
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 191 Issue: 1 Pages: 112-119

    • DOI

      10.1002/ajmg.a.62997

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-22H04925
  • [Journal Article] Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers2023

    • Author(s)
      Yamazaki Aya、Kuroda Tomoko、Kawasaki Nami、Kato Keiichi、Shimojima Yamamoto Keiko、Iwasa Takeshi、Kuwahara Akira、Taniguchi Yuka、Takeshita Toshiyuki、Kita Yosuke、Mikami Mikio、Irahara Minoru、Yamamoto Toshiyuki
    • Journal Title

      Journal of Human Genetics

      Volume: 69 Issue: 1 Pages: 41-45

    • DOI

      10.1038/s10038-023-01202-9

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K02944, KAKENHI-PROJECT-23K07257, KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-20H03828
  • [Journal Article] Preimplantation Genetic Testing for Aneuploidy for Recurrent Pregnancy Loss and Recurrent Implantation Failure in Minimal Ovarian Stimulation Cycle for Women Aged 35-42 Years: Live Birth Rate, Developmental Follow-up of Children, and Embryo Ranking2023

    • Author(s)
      Kato Keiichi、Kuroda Tomoko、Yamadera-Egawa Rie、Ezoe Kenji、Aoyama Naoki、Usami Akemi、Miki Tetsuya、Yamamoto Toshiyuki、Takeshita Toshiyuki
    • Journal Title

      Reproductive Sciences

      Volume: 30 Issue: 3 Pages: 974-983

    • DOI

      10.1007/s43032-022-01073-z

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Journal Article] Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features2023

    • Author(s)
      Tamura Takeaki、Yamamoto Shimojima Keiko、Shiihara Takashi、Sakazume Satoru、Okamoto Nobuhiko、Yagasaki Hiroshi、Morioka Ichiro、Kanno Hitoshi、Yamamoto Toshiyuki
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 191 Issue: 2 Pages: 400-407

    • DOI

      10.1002/ajmg.a.63034

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Journal Article] Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features2023

    • Author(s)
      Shimojima Yamamoto K, Yoshimura A, Yamamoto T
    • Journal Title

      Human Genome Variation

      Volume: 10 Issue: 1 Pages: 22-22

    • DOI

      10.1038/s41439-023-00250-z

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K07257, KAKENHI-PROJECT-21K07873
  • [Journal Article] Dynamic coronary CT Angiography-Estimated coronary flow in Non-Obstructive, Plaque-free coronary Arteries: Association with dyslipidemia and diabetes2022

    • Author(s)
      Izoe Yukako、Nagao Michinobu、Sato Kayoko、Sakai Akiko、Ando Kiyoe、Kanai Miwa、Yamamoto Astushi、Sakai Shuji、Chida Koichi
    • Journal Title

      IJC Heart &amp; Vasculature

      Volume: 42 Pages: 101098-101098

    • DOI

      10.1016/j.ijcha.2022.101098

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08117
  • [Journal Article] Non-invasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader-Willi syndrome caused by trisomy rescue in the neonatal period2022

    • Author(s)
      Okuda T, Moroto M, Yamamoto T
    • Journal Title

      Journal of Obsterics and Gynecology Research

      Volume: 48 Issue: 8 Pages: 2214-2218

    • DOI

      10.1111/jog.15236

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Journal Article] Precise clinicopathologic findings for application of genetic testing in pediatric kidney transplant recipients with focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome2022

    • Author(s)
      Miura Kenichiro、Kaneko Naoto、Hashimoto Taeko、Ishizuka Kiyonobu、Shirai Yoko、Hisano Masataka、Chikamoto Hiroko、Akioka Yuko、Kanda Shoichiro、Harita Yutaka、Yamamoto Toshiyuki、Hattori Motoshi
    • Journal Title

      Pediatric Nephrology

      Volume: 38 Issue: 2 Pages: 417-429

    • DOI

      10.1007/s00467-022-05604-3

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07861, KAKENHI-PROJECT-20K08237, KAKENHI-PROJECT-20K08584, KAKENHI-PROJECT-21K07829, KAKENHI-PROJECT-21K07857, KAKENHI-PROJECT-21K07873
  • [Journal Article] Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis2022

    • Author(s)
      Yamamoto Keiko Shimojima、Utshigisawa Taiju、Ogura Hiromi、Aoki Takako、Kawakami Takahiro、Ohga Shoichi、Ohara Akira、Ito Etsuro、Yamamoto Toshiyuki、Kanno Hitoshi
    • Journal Title

      Human Genome Variation

      Volume: 9 Issue: 1 Pages: 1-1

    • DOI

      10.1038/s41439-021-00179-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-23K21429
  • [Journal Article] Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review2022

    • Author(s)
      Machida O, Yamamoto Shimojima K, Shiihara T, Akamine S, Kira R, Hasegawa Y, Nishi E, Okamoto N, Nagata S, Yamamoto T
    • Journal Title

      Intractable & Rare Diseases Research

      Volume: 11 Issue: 3 Pages: 143-148

    • DOI

      10.5582/irdr.2022.01065

    • ISSN
      2186-361X, 2186-3644
    • Year and Date
      2022-08-31
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Journal Article] Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants2022

    • Author(s)
      Inoue Yoko、Machida Osamu、Kita Yosuke、Yamamoto Toshiyuki
    • Journal Title

      Intractable & Rare Diseases Research

      Volume: 11 Issue: 3 Pages: 120-124

    • DOI

      10.5582/irdr.2022.01067

    • ISSN
      2186-361X, 2186-3644
    • Year and Date
      2022-08-31
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K02944, KAKENHI-PROJECT-21K07873
  • [Journal Article] Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, epilepsy, and early craniosynostosis2022

    • Author(s)
      Eto K, Machida O, Yanagishita T, Yamamoto Shimojima K, Chiba K, Aihara Y, Nagata M, Isihara Y, Miyashita Y, Asano Y, Nagata S, Toshiyuki Yamamoto T
    • Journal Title

      Human Genome Variation

      Volume: 9 Issue: 1 Pages: 43-43

    • DOI

      10.1038/s41439-022-00220-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-21K08027, KAKENHI-PROJECT-23K24328
  • [Journal Article] Genotype-phenotype correlation in six patients with interstitial deletions spanning 13q312022

    • Author(s)
      Muramatsu M, Shimojima Yamamoto K, Pin Fee Chong P-F, Ryutaro Kira R, Nobuhiko Okamoto N, Yamamoto T
    • Journal Title

      NO TO HATTATSU

      Volume: 54 Issue: 5 Pages: 317-322

    • DOI

      10.11251/ojjscn.54.317

    • ISSN
      0029-0831, 1884-7668
    • Language
      Japanese
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Journal Article] Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity2022

    • Author(s)
      Aso K, Soutome T, Satoh M, Aoki T, Ogura H, Yamamoto T, Kanno H, Takahashi H
    • Journal Title

      Clinical Case Reports

      Volume: 10 Issue: 7

    • DOI

      10.1002/ccr3.6070

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Journal Article] Inverted-duplication-deletion of chromosome 10q identified in a patient with systemic lupus erythematosus2022

    • Author(s)
      Kaneko S, Shimbo A, Irabu H, Yamamoto T, Shimizu M
    • Journal Title

      Pediatrics International

      Volume: 65 Issue: 1

    • DOI

      10.1111/ped.15396

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Journal Article] A Japanese patient with a 2p25.3 terminal deletion presented with early‐onset obesity, intellectual disability and diabetes mellitus: A case report2021

    • Author(s)
      Sakaue Taka‐aki、Obata Yoshinari、Fujishima Yuya、Kozawa Junji、Otsuki Michio、Yamamoto Toshiyuki、Maeda Norikazu、Nishizawa Hitoshi、Shimomura Iichiro
    • Journal Title

      Journal of Diabetes Investigation

      Volume: 13 Issue: 2 Pages: 391-396

    • DOI

      10.1111/jdi.13645

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Journal Article] Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 152021

    • Author(s)
      Ueda K, Ogawa S, Matsuda K, Hasegawa Y, Nishi E, Yanagi K, Kaname T, Yamamoto T, Okamoto N.
    • Journal Title

      Am J Med Genet A

      Volume: 185 Issue: 10 Pages: 3092-3098

    • DOI

      10.1002/ajmg.a.62371

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-21K07873
  • [Journal Article] HECW2-related disorder in four Japanese patients2021

    • Author(s)
      Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T
    • Journal Title

      Am Med Genet A

      Volume: 185 Issue: 10 Pages: 2895-2902

    • DOI

      10.1002/ajmg.a.62363

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-19H03652
  • [Journal Article] A case of heterozygous familial hypercholesterolemia requiring strict low-density lipoprotein cholesterol management with proprotein convertase subtilisin/kexin 9 inhibitor after coronary artery bypass grafting2021

    • Author(s)
      Abe Takuro、Sato Kayoko、Sekiguchi Haruki、Nakao Masashi、Im Jihaeng、Sakai Akiko、Yamamoto Toshiyuki、Shoda Morio、Hagiwara Nobuhisa
    • Journal Title

      Journal of Cardiology Cases

      Volume: 24 Issue: 3 Pages: 126-130

    • DOI

      10.1016/j.jccase.2021.02.012

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K08117
  • [Journal Article] Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures2021

    • Author(s)
      Shimojima Yamamoto Keiko、Yanagishita Tomoe、Yamamoto Hisako、Miyamoto Yusaku、Nagata Miho、Ishihara Yasuki、Miyashita Yohei、Asano Yoshihiro、Sakata Yasushi、Yamamoto Toshiyuki
    • Journal Title

      Human Genome Variation

      Volume: 8 Issue: 1 Pages: 43-43

    • DOI

      10.1038/s41439-021-00176-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-18H04078, KAKENHI-PROJECT-19H03652
  • [Journal Article] Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease2021

    • Author(s)
      Yamamoto-Shimojima Keiko、Akagawa Hiroyuki、Yanagi Kumiko、Kaname Tadashi、Okamoto Nobuhiko、Yamamoto Toshiyuki
    • Journal Title

      Human Genome Variation

      Volume: 8 Issue: 1 Pages: 14-14

    • DOI

      10.1038/s41439-021-00144-y

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-20K09916, KAKENHI-PROJECT-21K07873
  • [Journal Article] Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet2021

    • Author(s)
      Numata-Uematsu Yurika、Uematsu Mitsugu、Yamamoto Toshiyuki、Saitsu Hirotomo、Katata Yu、Oikawa Yoshitsugu、Saijyo Naoya、Inui Takehiko、Murayama Kei、Ohtake Akira、Osaka Hitoshi、Takanashi Jun-ichi、Kure Shigeo、Inoue Ken
    • Journal Title

      Molecular Genetics and Metabolism Reports

      Volume: 29 Pages: 100800-100800

    • DOI

      10.1016/j.ymgmr.2021.100800

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08237, KAKENHI-PROJECT-21K07873, KAKENHI-PROJECT-21H02886, KAKENHI-PROJECT-20H03648
  • [Journal Article] Clinical spectrum of individuals with de novo EBF3 variants or deletions2021

    • Author(s)
      Nishi Eriko、Uehara Tomoko、Yanagi Kumiko、Hasegawa Yuiko、Ueda Kimiko、Kaname Tadashi、Yamamoto Toshiyuki、Kosaki Kenjiro、Okamoto Nobuhiko
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 185 Issue: 10 Pages: 2913-2921

    • DOI

      10.1002/ajmg.a.62369

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Journal Article] Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons2021

    • Author(s)
      Ichise Eisuke、Chiyonobu Tomohiro、Ishikawa Mitsuru、Tanaka Yasuyoshi、Shibata Mami、Tozawa Takenori、Taura Yoshihiro、Yamashita Satoshi、Yoshida Michiko、Morimoto Masafumi、Higurashi Norimichi、Yamamoto Toshiyuki、Okano Hideyuki、Hirose Shinichi
    • Journal Title

      Human Molecular Genetics

      Volume: - Issue: 14 Pages: 1337-1348

    • DOI

      10.1093/hmg/ddab113

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17347, KAKENHI-PROJECT-20K16898, KAKENHI-PROJECT-21K07780, KAKENHI-PROJECT-21K07855, KAKENHI-PROJECT-21K07873
  • [Journal Article] Coronary flow quantification estimated by dynamic 320-detector CT angiography: validation by <sup>13</sup>N ammonia PET myocardial flow reserve2021

    • Author(s)
      Matsuo Yuka、Nagao Michinobu、Yamamoto Atsushi、Ando Kiyoe、Nakao Risako、Fukushima Kenji、Momose Mitsuru、Sakai Akiko、Sato Kayoko、Sakai Shuji
    • Journal Title

      The British Journal of Radiology

      Volume: 94 Issue: 1127

    • DOI

      10.1259/bjr.20201415

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K08209, KAKENHI-PROJECT-21K08117
  • [Journal Article] Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X‐chromosome inactivation2020

    • Author(s)
      Yamamoto‐Shimojima Keiko、Osawa Mitsujiro、Saito Megumu K.、Yamamoto Toshiyuki
    • Journal Title

      Congenital Anomalies

      Volume: 61 Issue: 2 Pages: 63-67

    • DOI

      10.1111/cga.12403

    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Journal Article] Analyses of breakpoint-junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing.2020

    • Author(s)
      Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Ondo Y, Yamamoto T.
    • Journal Title

      J Hum Genet

      Volume: in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Journal Article] A novel α-spectrin pathogenic variant in trans to α-spectrin LELY causing neonatal jaundice with hemolytic anemia from hereditary pyropoikilocytosis coexisting with Gilbert syndrome.2020

    • Author(s)
      Suzuki T, Togawa T, Kanno H, Ogura H, Yamamoto T, Sugiura T, Kouwaki M, Saitoh S.
    • Journal Title

      J Pediatr Hemat/Onc

      Volume: in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Journal Article] Myocardial Flow Reserve in Coronary Artery Disease with Low Attenuation Plaque: Coronary CTA and 13N-ammonia PET Assessments2020

    • Author(s)
      Yamamoto Atsushi、Nagao Michinobu、Ando Kiyoe、Nakao Risako、Sakai Akiko、Watanabe Eri、Momose Mitsuru、Sato Kayoko、Fukushima Kenji、Sakai Shuji、Hagiwara Nobuhisa
    • Journal Title

      Academic Radiology

      Volume: - Pages: S17-S24

    • DOI

      10.1016/j.acra.2020.11.012

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07733, KAKENHI-PROJECT-19K08209, KAKENHI-PROJECT-21K08117
  • [Journal Article] Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome2020

    • Author(s)
      Imaizumi Taichi、Yamamoto-Shimojima Keiko、Yanagishita Tomoe、Ondo Yumiko、Nishi Eriko、Okamoto Nobuhiko、Yamamoto Toshiyuki
    • Journal Title

      Human Genetics

      Volume: 139 Issue: 12 Pages: 1555-1563

    • DOI

      10.1007/s00439-020-02196-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133
  • [Journal Article] Application of induced pluripotent stem cells in epilepsy2020

    • Author(s)
      Hirose Shinichi、Tanaka Yasuyoshi、Shibata Mami、Kimura Yuichi、Ishikawa Mitsuru、Higurashi Norimichi、Yamamoto Toshiyuki、Ichise Eisuke、Chiyonobu Tomohiro、Ishii Atsushi
    • Journal Title

      Molecular and Cellular Neuroscience

      Volume: 108 Pages: 103535-103535

    • DOI

      10.1016/j.mcn.2020.103535

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17347, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-20H03651, KAKENHI-PROJECT-18K07802, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K15735
  • [Journal Article] The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.2020

    • Author(s)
      Kato T, Inagaki H, Miyai S, Suzuki F, Naru Y, Shinkai Y, Kato A, Kanyama K, Mizuno S, Muramatsu Y, Yamamoto T, Shinya M, Tazaki Y, Hiwatashi S, Ikeda T, Ozaki M, Kurahashi H.
    • Journal Title

      Hum Genet.

      Volume: 139(11) Issue: 11 Pages: 1417-1427

    • DOI

      10.1007/s00439-020-02186-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K09790, KAKENHI-PROJECT-18K07803
  • [Journal Article] Deletion in the cobalamin synthetase W domain-containing protein 1 gene is associated with congenital anomalies of the kidney and urinary tract.2020

    • Author(s)
      Kanda S, Ohmuraya M, Akagawa H, Horita S, Yoshida Y, Kaneko N, Sugawara N, Ishizuka K, Miura K, Harita Y, Yamamoto T, Oka A, Araki K, Furukawa T, Hattori M.
    • Journal Title

      J Am Soc Nephrol

      Volume: 31 Issue: 1 Pages: 139-147

    • DOI

      10.1681/asn.2019040398

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07872, KAKENHI-PROJECT-19K08405, KAKENHI-PROJECT-17K09689, KAKENHI-PROJECT-17K10158, KAKENHI-PROJECT-18K07029, KAKENHI-PROJECT-20K08584, KAKENHI-PROJECT-18K07857
  • [Journal Article] Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing2020

    • Author(s)
      Imaizumi Taichi、Yamamoto-Shimojima Keiko、Yanagishita Tomoe、Ondo Yumiko、Yamamoto Toshiyuki
    • Journal Title

      Journal of Human Genetics

      Volume: 65 Issue: 9 Pages: 735-741

    • DOI

      10.1038/s10038-020-0762-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133
  • [Journal Article] De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides?Baraitser syndrome2020

    • Author(s)
      Cappuccio Gerarda、Telethon Undiagnosed Diseases Program、Sayou Camille、Tanno Pauline Le、Tisserant Emilie、Bruel Ange-Line、Kennani Sara El、,,,,Yamamoto Toshiyuki、et al.
    • Journal Title

      Genetics in Medicine

      Volume: 22 Issue: 11 Pages: 1838-1850

    • DOI

      10.1038/s41436-020-0898-y

    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Journal Article] Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern2020

    • Author(s)
      Yanagishita Tomoe、Imaizumi Taichi、Yamamoto‐Shimojima Keiko、Yano Tamami、Okamoto Nobuhiko、Nagata Satoru、Yamamoto Toshiyuki
    • Journal Title

      Human Mutation

      Volume: 41 Issue: 12 Pages: 2119-2127

    • DOI

      10.1002/humu.24108

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133
  • [Journal Article] Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B2020

    • Author(s)
      Fujita Takako、Ihara Yukiko、Hayashi Hitomi、Ishii Atsushi、Ideguchi Hiroshi、Inoue Takahito、Imaizumi Taichi、Yamamoto Toshiyuki、Hirose Shinichi
    • Journal Title

      Congenital Anomalies

      Volume: 60 Issue: 6 Pages: 189-193

    • DOI

      10.1111/cga.12383

    • NAID

      50014626632

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-18K07803
  • [Journal Article] Duchenne型筋ジストロフィー患者の母親で認められたモザイク変異と遺伝カウンセリング.2020

    • Author(s)
      村松みゆき, 白井謙太朗, 今泉太一, 柳下友映, 山本圭子, 山本俊至.
    • Journal Title

      脳と発達

      Volume: 52 Pages: 41-44

    • NAID

      130007786531

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Journal Article] Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.2020

    • Author(s)
      Yamamoto-Shimojima K, Imaizumi T, Akagawa H, Kanno H, Yamamoto T.
    • Journal Title

      Am J Med Genet A

      Volume: 182 Issue: 3 Pages: 521-526

    • DOI

      10.1002/ajmg.a.61432

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-16K10041
  • [Journal Article] PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia2019

    • Author(s)
      Okumura Akihisa、Shimojima Keiko、Kurahashi Hirokazuら.
    • Journal Title

      Seizure

      Volume: 71 Pages: 1-5

    • DOI

      10.1016/j.seizure.2019.05.017

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10086, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07890, KAKENHI-PROJECT-19K17381, KAKENHI-PROJECT-16H06276
  • [Journal Article] Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP12019

    • Author(s)
      Yamamoto-Shimojima Keiko、Imaizumi Taichi、Aoki Yusuke、Inoue Ken、Kaname Tadashi、Okuno Yusuke、Muramatsu Hideki、Kato Kohji、Yamamoto Toshiyuki
    • Journal Title

      Journal of Human Genetics

      Volume: 未定 Issue: 7 Pages: 665-671

    • DOI

      10.1038/s10038-019-0600-x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16H05361, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
  • [Journal Article] Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.2019

    • Author(s)
      Yanagishita T, Yamamoto-Shimojima K, Nakano S, Sasaki T, Shigematsu H, Imai K, Yamamoto T.
    • Journal Title

      Brain Dev.

      Volume: 41 Issue: 5 Pages: 452-455

    • DOI

      10.1016/j.braindev.2018.12.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
  • [Journal Article] Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders2019

    • Author(s)
      Yamamoto Toshiyuki、Imaizumi Taichi、Yamamoto-Shimojima Keiko、Kurahashi Hirokazuら,
    • Journal Title

      Brain and Development

      Volume: 41 Issue: 9 Pages: 776-782

    • DOI

      10.1016/j.braindev.2019.05.007

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10086, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07890, KAKENHI-PROJECT-19K10613, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
  • [Journal Article] Sequential radiologic findings in osteopathia striata with cranial sclerosis.2019

    • Author(s)
      Tomita Y, Chong P-F, Yamamoto T, Akaminea S, Imaizumi T, Kira R.
    • Journal Title

      Diagn Interv Imaging.

      Volume: 100 Issue: 9 Pages: 529-531

    • DOI

      10.1016/j.diii.2019.04.001

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-19K10613
  • [Journal Article] Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction.2019

    • Author(s)
      Yanagishita T, Yamamoto-Shimojima K, Nakano S, Sasaki T, Shigematsu H, Imai K, Yamamoto T.
    • Journal Title

      Congenital Anomalies (Kyoto)

      Volume: 印刷中 Issue: 1 Pages: 10-14

    • DOI

      10.1111/cga.12325

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803
  • [Journal Article] A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.2019

    • Author(s)
      Miyamoto S, Nakashima M, Ohashi T, Hiraide T, Kurosawa K, Yamamoto T, Takanashi J, Osaka H, Inoue K, Miyazaki T, Wada Y, Okamoto N, Saitsu H.
    • Journal Title

      Mol Genet Genomic Med.

      Volume: 7 Issue: 8

    • DOI

      10.1002/mgg3.814

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Journal Article] Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion.2019

    • Author(s)
      Hoshina T, Seto T, Shimono T, Sakamoto H, Okuyama T, Hamazaki T, Yamamoto T.
    • Journal Title

      Hum Genome Var.

      Volume: 6 Issue: 1 Pages: 47-47

    • DOI

      10.1038/s41439-019-0079-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Journal Article] De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic west syndrome.2019

    • Author(s)
      Imaizumi T, Mogami Y, Okamoto N, Yamamoto-Shimojima K, Yamamoto T.
    • Journal Title

      Congenital Anomalies (Kyoto)

      Volume: 印刷中 Issue: 6 Pages: 193-194

    • DOI

      10.1111/cga.12322

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803
  • [Journal Article] Compound Heterozygous <i>ALDH7A1</i> Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy2019

    • Author(s)
      Yanagishita T, Yamamoto-Shimojima K, Koike T, Nasu H, Takahashi Y, Akiyama T, Nagata S, Yamamoto T.
    • Journal Title

      Tokyo Women's Medical University Journal

      Volume: 3 Issue: 0 Pages: 73-77

    • DOI

      10.24488/twmuj.2019005

    • NAID

      130007770823

    • ISSN
      2432-6186
    • Year and Date
      2019-12-20
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
  • [Journal Article] Advantages of ddPCR in detection of <i>PLP1</i> duplications2019

    • Author(s)
      Imaizumi T, Yamamoto-Shimojima K, Yamamoro T.
    • Journal Title

      Intractable & Rare Diseases Research

      Volume: 8 Issue: 3 Pages: 198-202

    • DOI

      10.5582/irdr.2019.01067

    • NAID

      130007709095

    • ISSN
      2186-361X, 2186-3644
    • Year and Date
      2019-08-31
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
  • [Journal Article] Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.2019

    • Author(s)
      Sato T, Sugiura-Ogasawara M, Ozawa F, Yamamoto T, Kato T, Kurahashi H, Kuroda T, Aoyama N, Kato K, Kobayashi R, Fukuda A, Utsunomiya T, Kuwahara A, Saito H, Takeshita T, Irahara M.
    • Journal Title

      Hum Reprod.

      Volume: 34 Issue: 12 Pages: 2340-2348

    • DOI

      10.1093/humrep/dez229

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K09267, KAKENHI-PROJECT-17K11259
  • [Journal Article] Natural histories of patients with Wolf-Hirschhorn syndrome derived from variable chromosomal abnormalities.2019

    • Author(s)
      Yamamoto-Shimojima K, Kouwaki M, Kawashima Y, Itomi K, Momosaki K, Ozasa S, Okamoto N, Yokochi K, Yamamoto T.
    • Journal Title

      Congenit Anom (Kyoto).

      Volume: 59 Issue: 5 Pages: 169-173

    • DOI

      10.1111/cga.12318

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
  • [Journal Article] An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU2018

    • Author(s)
      Shimada Shino、Oguni Hirokazu、Otani Yui、Nishikawa Aiko、Ito Susumu、Eto Kaoru、Nakazawa Tomoyuki、Yamamoto-Shimojima Keiko、Takanashi Jun-ichi、Nagata Satoru、Yamamoto Toshiyuki
    • Journal Title

      Brain and Development

      Volume: 40 Issue: 9 Pages: 813-818

    • DOI

      10.1016/j.braindev.2018.05.010

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-16K10329
  • [Journal Article] Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia2018

    • Author(s)
      Akahoshi Keiko、Yamamoto Toshiyuki
    • Journal Title

      Neuropsychiatric Disease and Treatment

      Volume: Volume 14 Pages: 1773-1778

    • DOI

      10.2147/ndt.s168469

    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Journal Article] Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders ? leukodystrophy and autism2018

    • Author(s)
      Yamamoto Toshiyuki、Yamamoto-Shimojima Keiko、Ueda Yuki、Imai Katsumi、Takahashi Yukitoshi、Imagawa Eri、Miyake Noriko、Matsumoto Naomichi
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 18-18

    • DOI

      10.1038/s41439-018-0020-z

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07865
  • [Journal Article] Somatic mosaic deletions involving SCN1A cause Dravet syndrome2018

    • Author(s)
      Nakayama Tojo、Ishii Atsushi、Yoshida Takeshi、Nasu Hirosato、Shimojima Keiko、Yamamoto Toshiyuki、Kure Shigeo、Hirose Shinichi
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 176 Issue: 3 Pages: 657-662

    • DOI

      10.1002/ajmg.a.38596

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-16K15532
  • [Journal Article] Early-Onset Diabetes Mellitus in a Patient With a Chromosome 13q34qter Microdeletion Including IRS2.2018

    • Author(s)
      Babaya N, Noso S, Hiromine Y, Ito H, Taketomo Y, Yamamoto T, Kawabata Y, Ikegami H.
    • Journal Title

      J Endocr Soc.

      Volume: 11 Issue: 10 Pages: 1207-1213

    • DOI

      10.1210/js.2018-00175

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K09852, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K08493, KAKENHI-PROJECT-18K08530
  • [Journal Article] Identification of a rare homozygous <i>SZT2</i> variant due to uniparental disomy in a patient with a neurodevelopmental disorder2018

    • Author(s)
      Imaizumi Taichi、Kumakura Akira、Yamamoto-Shimojima Keiko、Ondo Yumko
    • Journal Title

      Intractable & Rare Diseases Research

      Volume: 7 Issue: 4 Pages: 245-250

    • DOI

      10.5582/irdr.2018.01117

    • NAID

      130007533901

    • ISSN
      2186-361X, 2186-3644
    • Year and Date
      2018-11-30
    • Language
      English
    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
  • [Journal Article] Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA2018

    • Author(s)
      Shimojima Keiko、Okamoto Nobuhiko、Ohmura Kayo、Nagase Hiroaki、Yamamoto Toshiyuki
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 18007-18007

    • DOI

      10.1038/hgv.2018.7

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K08918, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
  • [Journal Article] Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome2018

    • Author(s)
      Shimada Shino、Hirasawa Kyoko、Takeshita Akiko、Nakatsukasa Hidetsugu、Yamamoto-Shimojima Keiko、Imaizumi Taichi、Nagata Satoru、Yamamoto Toshiyuki
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 176 Issue: 12 Pages: 2803-2807

    • DOI

      10.1002/ajmg.a.40500

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
  • [Journal Article] A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer2018

    • Author(s)
      Akizawa Yoshika、Yamamoto Toshiyuki、Tamura Kazuo、Kanno Toshiyuki、Takahashi Nobuko、Ohki Takeshi、Omori Teppei、Tokushige Katsutoshi、Yamamoto Masakazu、Saito Kayoko
    • Journal Title

      Human Genome Variation

      Volume: 5 Issue: 1 Pages: 13-13

    • DOI

      10.1038/s41439-018-0013-y

    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Journal Article] Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan.2017

    • Author(s)
      Yamamoto T, Shimojima K, Matsufuji M, Mashima R, Sakai E, Okuyama T.
    • Journal Title

      Brain Dev.

      Volume: 39(5) Issue: 5 Pages: 422-425

    • DOI

      10.1016/j.braindev.2016.12.004

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-16K08958, KAKENHI-PROJECT-17J40108
  • [Journal Article] Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: literature review and description of an additional patient2017

    • Author(s)
      Shimojima K, Okamoto N, Yamamoto T
    • Journal Title

      Congenit Anom

      Volume: in press

    • NAID

      130008142363

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-15K09631
  • [Journal Article] Mandibulofacial dysostosis with microcephaly: A case presenting with seizures2017

    • Author(s)
      Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K.
    • Journal Title

      Brain Dev.

      Volume: 39(2) Issue: 2 Pages: 177-181

    • DOI

      10.1016/j.braindev.2016.08.008

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-15K09631
  • [Journal Article] An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment.2017

    • Author(s)
      Shirai K, Higashi Y, Shimojima K, Yamamoto T.
    • Journal Title

      Am J Med Genet A.

      Volume: 173(4) Issue: 4 Pages: 1124-1127

    • DOI

      10.1002/ajmg.a.38134

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
  • [Journal Article] Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.2016

    • Author(s)
      Shimojima K, Ondo Y, Matsufuji M, Sano N, Tsuru H, Oyoshi T, Higa N, Tokimura H, Arita K, Yamamoto T.
    • Journal Title

      Eur J Med Genet.

      Volume: 59(11) Issue: 11 Pages: 559-563

    • DOI

      10.1016/j.ejmg.2016.10.006

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-15K09631
  • [Journal Article] Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.2015

    • Author(s)
      Yamamoto T, Shimojima K, Yano T, Ueda Y, Takayama R, Ikeda H, Imai K.
    • Journal Title

      Brain Dev

      Volume: 38 Issue: 3 Pages: 280-284

    • DOI

      10.1016/j.braindev.2015.09.004

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-24791090
  • [Journal Article] Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.2015

    • Author(s)
      Yamamoto T, Shimojima K, Shibata T, Akiyama M, Oka M, Akiyama T, Yoshinaga H, Kobayashi K.
    • Journal Title

      Human Genome Variation

      Volume: 2 Issue: 1 Pages: 15048-15048

    • DOI

      10.1038/hgv.2015.48

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-24791090
  • [Journal Article] Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.2015

    • Author(s)
      Sangu N, Shimojima K, Okumura A, Ando T, Yamamoto T.
    • Journal Title

      Epilepsy Res

      Volume: 118 Pages: 10-13

    • DOI

      10.1016/j.eplepsyres.2015.09.010

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-24791090
  • [Journal Article] Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.2015

    • Author(s)
      Yamamoto T, Shimojima K, Kimura N, Mogami Y, Usui D, Takayama R, Ikeda H, Imai K.
    • Journal Title

      Human Genome Variation

      Volume: 2 Issue: 1 Pages: 15042-15042

    • DOI

      10.1038/hgv.2015.42

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-24791090
  • [Journal Article] A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia2015

    • Author(s)
      Shimojima K, Okamoto N, Yamamoto T.
    • Journal Title

      Am J Med Genet A

      Volume: 170A Issue: 4 Pages: 1076-1079

    • DOI

      10.1002/ajmg.a.37545

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-24791090
  • [Journal Article] Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients2013

    • Author(s)
      Shimada S, Okamoto N, Hirasawa K, Yoshii K, Tani Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T
    • Journal Title

      Am J Med Genet

      Volume: in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Journal Article] MECP2 duplication syndrome in both genders.2013

    • Author(s)
      Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T
    • Journal Title

      Brain Dev

      Volume: 35(5) Issue: 5 Pages: 411-419

    • DOI

      10.1016/j.braindev.2012.07.010

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591497, KAKENHI-PROJECT-24791090, KAKENHI-PUBLICLY-23110534
  • [Journal Article] A novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism2013

    • Author(s)
      Sangu N, Shimosato T, Inoda H, Shimada S, Shimojima K, Ando T, Yamamoto T
    • Journal Title

      Congenit Anom (Kyoto)

      Volume: in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Journal Article] De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features2013

    • Author(s)
      Yamamoto T, Matsuo M, Shimada S, Sangu N, Shimojima K, Aso S, Saito K.
    • Journal Title

      Mol Cytogenet.

      Volume: 6(1) Issue: 1 Pages: 15-15

    • DOI

      10.1186/1755-8166-6-15

    • NAID

      120007163712

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24791090, KAKENHI-PUBLICLY-23110534
  • [Journal Article] マイクロアレイ染色体検査の臨床応用2012

    • Author(s)
      山本俊至
    • Journal Title

      日小児誌

      Volume: 116 Pages: 32-39

    • NAID

      10030289353

    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Journal Article] Growth profiles of 34 patients with Wolf-Hirschhorn syndrome2012

    • Author(s)
      Yamamoto T, 他1名
    • Journal Title

      J Pediatr Genet

      Volume: 1 Pages: 33-37

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] マイクロアレイ染色体検査の臨床応用2012

    • Author(s)
      山本俊至
    • Journal Title

      日小児誌

      Volume: 116 Pages: 32-39

    • NAID

      10030289353

    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years2012

    • Author(s)
      Yamamoto T, 他4名
    • Journal Title

      Am J Med Genet

      Volume: 158A Pages: 220-223

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication2012

    • Author(s)
      Keiko Shimojima
    • Journal Title

      Journal of Human Genetics

      Volume: 57 Issue: 9 Pages: 580-586

    • DOI

      10.1038/jhg.2012.71

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22591071, KAKENHI-PROJECT-23710082, KAKENHI-PROJECT-24791090, KAKENHI-PUBLICLY-23110534
  • [Journal Article] Homozygous c. 14576G> A variant of RNF213 predicts early-onset and severe form of moyamoya disease2012

    • Author(s)
      Yamamoto T, 他24名
    • Journal Title

      Neurology

      Volume: 78 Pages: 803-10

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia2012

    • Author(s)
      Yamamoto T, 他7名
    • Journal Title

      Brain Dev

      Volume: 34 Pages: 230-233

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] iPS細胞の小児神経疾患の病態解析への応用2011

    • Author(s)
      山本俊至, 他1名
    • Journal Title

      脳21

      Volume: 14 Pages: 218-223

    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis2011

    • Author(s)
      Yamamoto T, 他3名
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 810-812

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] アレイCGH法:新技術によるてんかんの遺伝子研究2011

    • Author(s)
      山本俊至, 他1名
    • Journal Title

      Epilepsy

      Volume: 5 Pages: 47-52

    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ62011

    • Author(s)
      Yamamoto T, 他5名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 13-119

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale2011

    • Author(s)
      Yamamoto T, 他5名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 215-220

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] ゲノムコピー数異常と疾患iPS細胞を用いた病態解析2011

    • Author(s)
      山本俊至, 他1名
    • Journal Title

      東京女子医科大学雑誌

      Volume: 81 Pages: 215-219

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extra axial space2011

    • Author(s)
      Yamamoto T, 他10名
    • Journal Title

      Neuropediatrics

      Volume: 42 Pages: 163-166

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay2011

    • Author(s)
      Yamamoto T, 他4名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 2997-3001

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] 次世代シーケンサーによる遺伝子解析2011

    • Author(s)
      山本俊至
    • Journal Title

      小児科

      Volume: 52 Pages: 1591-1597

    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Journal Article] てんかん診療最前線アレイCGH法新技術によるてんかんの遺伝子研究2011

    • Author(s)
      山本俊至, ら
    • Journal Title

      Epilepsy

      Volume: 5 Pages: 47-52

    • NAID

      40018856476

    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Journal Article] Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.32011

    • Author(s)
      Yamamoto T, 他6名
    • Journal Title

      Epilepsia

      Volume: 52

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] SCN1B is Not Related to Benign Partial Epilepsy in Infancy or Convulsions with Gastroenteritis2011

    • Author(s)
      Yamamoto T, 他5名
    • Journal Title

      Neuropediatrics

      Volume: 42 Pages: 135-137

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB2011

    • Author(s)
      Yamamoto T, 他13名
    • Journal Title

      J Med Genet

      Volume: 48 Pages: 117-122

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome2011

    • Author(s)
      Yamamoto T, 他9名
    • Journal Title

      J Med Genet

      Volume: 48 Pages: 117-122

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB.2011

    • Author(s)
      Tanaka T, Motoi N, Tsuchihashi Y, Tazawa R, Kaneko C, Nei T, Yamamoto T, Hayashi T, Tagawa T, Nagayasu T, Kuribayashi F, Ariyoshi K, Nakata K, Morimoto K.
    • Journal Title

      J Med Genet

      Volume: 48 Pages: 205-209

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Spondylometphyseal dysplasia with cone-rod dystrophy. A case report2011

    • Author(s)
      Yamamoto T, 他5名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 845-849

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] てんかん診療最前線アレイCGH法新技術によるてんかんの遺伝子研究2011

    • Author(s)
      山本俊至, ら
    • Journal Title

      Epilepsy

      Volume: 5 Pages: 47-52

    • NAID

      40018856476

    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.2011

    • Author(s)
      Filges I, Shimojima K, Okamoto N, Rothlisb erger B, Weber P, Huber AR, Nishizawa T, Datta AN, Miny P, Yamamoto T.
    • Journal Title

      J Med Genet

      Volume: 48 Pages: 117-122

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] ゲノムコピー数異常と疾患iPS細胞を用いた病態解析2011

    • Author(s)
      山本俊至, ら
    • Journal Title

      東京女子医科大学雑誌

      Volume: 81 Pages: 215-219

    • Peer Reviewed
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Journal Article] 次世代シーケンサーによる遺伝子解析2011

    • Author(s)
      山本俊至
    • Journal Title

      小児科

      Volume: 12 Pages: 1591-1597

    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] CDKL5 alterations lead to early epileptic encephalopathy in both genders2011

    • Author(s)
      Yamamoto T, 他17名
    • Journal Title

      Epilepsia

      Volume: 52 Pages: 1835-1842

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] 9q22 Deletion-first familial case2011

    • Author(s)
      Yamamoto T, 他7名
    • Journal Title

      Orphanet J Rare Dis

      Volume: 6 Pages: 45-45

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] 疾患形成における標的分子の役割成人発症のGM-CSF受容体commonβ鎖発現異常による先天性肺胞蛋白症症例の分子機序2011

    • Author(s)
      山本俊至, 他9名
    • Journal Title

      分子呼吸器病

      Volume: 15 Pages: 106-110

    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.2011

    • Author(s)
      Yamamoto T, Shimojima K, Nishizawa T, Matsuo M, Ito M, Imai K.
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 113-119

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale.2011

    • Author(s)
      Kibe T, Mori Y, Okanishi T, Shimojima K, Yokochi K, Yamamoto T.
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 215-220

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV2011

    • Author(s)
      Yamamoto T, 他3名
    • Journal Title

      Am J Med Genet A

      Volume: 155A Pages: 1568-1573

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011

    • Author(s)
      Yamamoto T, 他6名
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 561-556

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 142011

    • Author(s)
      Yamamoto T, 他7名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 2584-2588

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome2011

    • Author(s)
      Yamamoto T, 他2名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 2293-2297

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] 先天性大脳白質形成不全症Pelizaeus-Merzbacher病とその類縁疾患2011

    • Author(s)
      山本俊至, 他6名
    • Journal Title

      脳と発達

      Volume: 43 Pages: 435-442

    • NAID

      10030290993

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ62011

    • Author(s)
      Yamamoto, T., et al
    • Journal Title

      Am J Med Genet A

      Volume: 155A Issue: 1 Pages: 113-119

    • DOI

      10.1002/ajmg.a.33735

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334, KAKENHI-PROJECT-22890199, KAKENHI-PUBLICLY-23110534
  • [Journal Article] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination2011

    • Author(s)
      Yamamoto T, 他6名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 732-736

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Genomic copy number variations at 17p13.3 and epileptogenesis.2010

    • Author(s)
      Shimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T.
    • Journal Title

      Epilepsy Res

      Volume: 89 Pages: 303-309

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Interstitial microdeletion of 4p16.3 : Contribution of WHSC1 haploinsufficiency to the pathigenesis of developmental delay in Wolf-Hirshhorn syndrome2010

    • Author(s)
      Yamamoto T, 他8名
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 1028-1032

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6.2010

    • Author(s)
      Takatsuki S, Nakamura R, Haga Y, Mitsui K, Hashimoto T, Shimojima K, Saji T, Yamamoto T.
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 1020-1025

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Co-occurrence of Prader-Willi and Sotos syndromes.2010

    • Author(s)
      Okamoto N, Akimaru N, Matsuda K, Suzuki Y, Shimojima K, Yamamoto T.
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 2103-2109

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalacia2010

    • Author(s)
      Okumura A, Yamamoto T, Kidokoro H, et al
    • Journal Title

      Early Hum Dev 86巻

      Pages: 665-667

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591306
  • [Journal Article] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.2010

    • Author(s)
      Komoike Y, Shimojima K, LiangJ-S, Fujii H, Maegaki Y, Osawa M, Fujii S, Higashinakagawa T, Yamamoto T.
    • Journal Title

      J Hum Genet

      Volume: 55 Pages: 155-162

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalacia.2010

    • Author(s)
      Okumura A, Yamamoto T, Kidokoro H, Kato T, Kubota T, Shoji H, Sato H, Shimojima K, Shimizu T.
    • Journal Title

      Early Hum Dev

      Volume: 86 Pages: 665-667

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome. Result of Japanese cohort study2010

    • Author(s)
      Yamamoto T, 他10名
    • Journal Title

      Epilepsia

      Volume: 51 Pages: 2449-2452

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalacia.2010

    • Author(s)
      Okumura A, Yamamoto T, Kidokoro H, et al.
    • Journal Title

      Early Human Development

      Volume: 86 Pages: 665-667

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591306
  • [Journal Article] Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.2010

    • Author(s)
      Inage E, Suzuki M, Minowa K, Akimoto N, Hisata K, Shoji H, Okumura A, Shimojima K, Shimizu T, Yamamoto T.
    • Journal Title

      Eur J Med Genet

      Volume: 53 Pages: 159-161

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.2010

    • Author(s)
      Komoike Y, Fujii K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi T, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T.
    • Journal Title

      Genesis

      Volume: 48 Pages: 233-243

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications2010

    • Author(s)
      Yamamoto T, 他16名
    • Journal Title

      Brain Dev

      Volume: 32 Pages: 171-179

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Serum levels of CA 15-3, KL-6 and BCA225 are positively correlated with each other in general population.2010

    • Author(s)
      Ri G, Ohno S, Yamamoto T, Ito E, Furutani M, Furutani Y, Umeda Y, Tsukahara T, Hagita N, Matsuoka R.
    • Journal Title

      Anticancer Research

      Volume: 29 Pages: 4239-4242

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Co-occurrence of Prader-Willi and Sotos syndromes2010

    • Author(s)
      Yamamoto T, 他5名
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 2103-2109

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] アレイCGHによるデジタル染色体解析の進歩と臨床応用2010

    • Author(s)
      山本俊至
    • Journal Title

      脳と発達

      Volume: 42 Pages: 138-143

    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] アレイCGH法:新技術によるてんかんの遺伝子研究2010

    • Author(s)
      山本俊至、下島圭子
    • Journal Title

      Epilepsy

      Volume: 42 Pages: 138-143

    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy.2010

    • Author(s)
      Shimojima K, Imai K, Yamamoto T.
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 2820-2826

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Genomic copy number variations at 17p13.3 and epileptogenesis2010

    • Author(s)
      Yamamoto T, 他8名
    • Journal Title

      Epilepsy Res

      Volume: 89 Pages: 303-309

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome2010

    • Author(s)
      Yamamoto T, 他9名
    • Journal Title

      Eur J Med Genet

      Volume: 53 Pages: 159-161

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] アレイCGH法によるデジタル染色体解析における遺伝カウンセリングの重要性2010

    • Author(s)
      山本俊至
    • Journal Title

      日本遺伝カウンセリング学会雑誌

      Volume: 31 Pages: 137-141

    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy2010

    • Author(s)
      Yamamoto T, 他2名
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 2820-2826

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.2010

    • Author(s)
      Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T.
    • Journal Title

      Brain Dev

      Volume: 32 Pages: 171-179

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalacia2010

    • Author(s)
      Yamamoto T, 他8名
    • Journal Title

      Early Hum Dev

      Volume: 86 Pages: 665-667

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish2010

    • Author(s)
      Yamamoto T, 他8名
    • Journal Title

      J Hum Genet

      Volume: 55 Pages: 155-162

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Serum levels of CA15-3, KL-6 and BCA225 are positively correlated with each other in general population2010

    • Author(s)
      Yamamoto T, 他9名
    • Journal Title

      Anticencer Research

      Volume: 29 Pages: 4239-4242

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.2010

    • Author(s)
      Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T
    • Journal Title

      Brain Dev 32

      Pages: 171-179

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Interstitial microdeletion of 4p 16.3 : Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome.2010

    • Author(s)
      Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K.
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 1028-1032

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB62010

    • Author(s)
      Yamamoto T, 他7名
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 1020-1025

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly2010

    • Author(s)
      Yamamoto T, 他16名
    • Journal Title

      Genesis

      Volume: 48 Pages: 233-243

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study.2010

    • Author(s)
      Otsuka M, Oguni H, Liang J-S, Ikeda H, Imai K, Hirasawa K, Imai K, Tachikawa E, Shimojima K, Osawa M, Yamamoto T.
    • Journal Title

      Epilepsia

      Volume: 51 Pages: 2449-2452

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Proximal interstitial 1p36 deletion syndrome : the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2)2009

    • Author(s)
      Yamamoto T, 他3名
    • Journal Title

      Brain Dev

      Volume: 31 Pages: 629-633

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.2009

    • Author(s)
      Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Yamamoto T., Robertson SP, Nishimura G, Nonaka I, Nishino I
    • Journal Title

      Neuromuscular Disorders 19

      Pages: 485-488

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] ACTA2 is not a major disease-causing gene for moyamoya disease2009

    • Author(s)
      Yamamoto T, 他1名
    • Journal Title

      J Hum Genet

      Volume: 54 Pages: 687-688

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay.2009

    • Author(s)
      Shimojima K, Saito K, Yamamoto T
    • Journal Title

      Am J Med Genet 149A

      Pages: 1818-1822

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Clinical features of microdeletion 9q22.3 (pat).2009

    • Author(s)
      Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T
    • Journal Title

      Clin Genet 75

      Pages: 384-393

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.2009

    • Author(s)
      Shimojima K, Komoike Y, Tohyama J, Takahashi S, Paez MT, Nakagawa E, Goto Y, Ohno K, Ohtsu M, Oguni H, Osawa M, Higashinakagawa T, Yamamoto T
    • Journal Title

      Genomics 94

      Pages: 414-422

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A newly recognized microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behavior, short stature, microcephaly, and dysmorphic features : a new patient with 3.2-Mb deletion.2009

    • Author(s)
      Liang J-S, Shimojima K, Ohno K, Sugiura C, Une Y, Ohno K, Yamamoto T
    • Journal Title

      J Med Genet 46

      Pages: 645-647

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae2009

    • Author(s)
      Yamamoto T, 他4名
    • Journal Title

      Eur J Med Genet

      Volume: 52 Pages: 433-435

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Variations in Clinical Findings of Patients with Identical Tuberous Sclerosis Gene Mutations2009

    • Author(s)
      Sakurai Y, Saito Y, Nanba E, Yamamoto T, Ohno K
    • Journal Title

      Yonago Acta Medica 52

      Pages: 57-72

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Vertebral fusion in a patient with supernumerary-der(22) t(11 ; 22) syndrome2009

    • Author(s)
      Yamamoto T, 他6名
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 1722-1726

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] TULIP1(RALGAPA1) haploinsufficiency with brain development delay2009

    • Author(s)
      Yamamoto T, 他12名
    • Journal Title

      Genomics

      Volume: 94 Pages: 414-422

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A newly recognized microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behavior, short stature, microcephaly, and dysmorphic features : a new patient with 3.2-Mb deletion2009

    • Author(s)
      Yamamoto T, 他6名
    • Journal Title

      J Med Genet

      Volume: 46 Pages: 645-647

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Brainstem disconnection associated with nodular heterotopia and proatlantal arteries2009

    • Author(s)
      Okumura A, Lee T, Yamamoto T, et al
    • Journal Title

      Am J Med Genet Part A 149巻A

      Pages: 2479-2483

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20591306
  • [Journal Article] Nemaline(actin) myopathy with myofibrillar dysgenesis and abnormal ossification2009

    • Author(s)
      Yamamoto T, 他12名
    • Journal Title

      Neuromuscul Disord

      Volume: 19 Pages: 485-458

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH2009

    • Author(s)
      Yamamoto T, 他1名
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 1076-1080

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Clinical features of microdeletion 9q22.3(pat)2009

    • Author(s)
      Yamamoto T, 他5名
    • Journal Title

      Clin Genet

      Volume: 75 Pages: 384-393

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH.2009

    • Author(s)
      Shimojima K, Yamamoto T
    • Journal Title

      Am J Med Genet 149A

      Pages: 1076-1080

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Brainstem disconnection associated with nodular heterotopia and proatlantal arteries2009

    • Author(s)
      Yamamoto T, 他8名
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 2479-83

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay2009

    • Author(s)
      Yamamoto T, 他2名
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 1818-1822

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Proximal interstitial lp36 deletion syndrome : the most proximal 3.5-Mb micro deletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).2009

    • Author(s)
      Shimojima K, Paez MT, Kurosawa K, Yamamoto T
    • Journal Title

      Brain Dev 31

      Pages: 629-633

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH2009

    • Author(s)
      Shimojima K, Yamamoto T
    • Journal Title

      American Journal of Medical Genetics 149A

      Pages: 1076-1080

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] A familial 593-kb microdeletion of 16p11.2 associated with mental retar dation and hemivertebrae.2009

    • Author(s)
      Shimojima K, Inoue T, Fujii Y, Ohno K, Yamamoto T
    • Journal Title

      Eur J Med Genet 52

      Pages: 433-435

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome.2009

    • Author(s)
      Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, Kawano Y
    • Journal Title

      Am J Med Genet 149A

      Pages: 1722-1726

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Variations in clinical findings of patients with identical tuberous sclerosis gene mutations2009

    • Author(s)
      Yamamoto T, 他4名
    • Journal Title

      Yonago Acta Medica

      Volume: 52 Pages: 57-72

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] ACTA2 is not a major disease-causing gene for moyamoya disease.2009

    • Author(s)
      Shimojima K, Yamamoto T
    • Journal Title

      J Hum Genet 54

      Pages: 687-688

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder2009

    • Author(s)
      Yamamoto T, 他2名
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 1359-1563

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder.2009

    • Author(s)
      Shimojima K, Tanaka K, Yamamoto T
    • Journal Title

      Am J Med Genet 149A

      Pages: 1359-1363

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Clinical features of microdeletion 9q22.3 (pat)2009

    • Author(s)
      Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T
    • Journal Title

      Clinical Genetics 75

      Pages: 384-393

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Variations in clinical findings of patients with identical tuberous scleros is gene mutations.2009

    • Author(s)
      Sakurai Y, Saito Y, Nanba E, Yamamoto T, Ohno K
    • Journal Title

      Yonago Acta Medica 52

      Pages: 57-72

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Parents' decision-making after having a child with an unbalanced chromosomal translocation2008

    • Author(s)
      Yamamoto T, Nishikawa T, Yamanaka M, Takada F, Kurosawa K.
    • Journal Title

      Journal of Pediatric Neurology 6

      Pages: 203-208

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Tetralogy of Fallot Associated With Pulmonary Atresia and Major Aortopulmonary Collateral Arteries in a Patient With Interstitial Deletion of 16q21-q22.12008

    • Author(s)
      Yamamoto T, Dowa Y, Ueda H, Kawataki M, Asou T, Sasaki Y, Harada N, Matsumoto N, Matsuoka R, Kurosawa K
    • Journal Title

      American Journal of Medical Genetics 146A巻

      Pages: 1575-1580

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Two Patients With Atypical Interstitial Deletions of 8p23.1 : Mapping of Phenotypical Traits2008

    • Author(s)
      Paez MT, Yamamoto T, Hayashi K, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R
    • Journal Title

      American Journal of Medical Genetics 146A

      Pages: 1158-1165

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Two Patients With Atypical Interstitial Deletions of 8p23.1 : Mapping of Phenotypical Traits2008

    • Author(s)
      Paez MT, Yamamoto T, Hayashi K, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R
    • Journal Title

      American Journal of Medical Genetics 146A巻

      Pages: 1158-1165

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Tetralogy of Fallot Associated With Pulmonary Atresia and Major Aortopulmonary Collateral Arteries in a Patient With Interstitial Deletion of 16q21-q22.12008

    • Author(s)
      Yamamoto T, Dowa Y, Ueda H, Kawataki M, Asou T, Sasaki Y, Harada N, Matsumoto N, Matsuoka R, Kurosawa K
    • Journal Title

      American Journal of Medical Genetics 146A

      Pages: 1575-1580

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Two Patients With Atypical Interstitial Deletions of 8p23.1: Mapping of Phenotypical Traits2008

    • Author(s)
      Paez MT, Yamamoto T, Hayashi K, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R
    • Journal Title

      American Journal of Medical Genetics (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Application of Array-Based Comparative Genome Hybridization in Children with Developmental Delay/Mental Retardation2008

    • Author(s)
      Liang J-S, Shimojima K, Yamamoto T
    • Journal Title

      Pediatric Neonatology 49

      Pages: 213-217

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Novel SLC12A1 (NKCC2) Mutations in Two Families with Bartter Syndrome Type 12008

    • Author(s)
      Adachi M, Asakura Y, Sato Y, Tajima T, Nakajima T, Yamamoto T, Fujieda K
    • Journal Title

      Endcrine Journal 54

      Pages: 1003-1007

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Application of Array-Based Comparative Genome Hybridization in Children with Developmental Delay/Mental Retardation2008

    • Author(s)
      Liang J-S, Shimojima K, Yamamoto T
    • Journal Title

      Pediatric Neonatology 49巻

      Pages: 213-217

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] 先天性心疾患2008

    • Author(s)
      下島圭子, 山本俊至
    • Journal Title

      ゲノム医学 2巻

      Pages: 67-71

    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Tetralogy of Fallot Associated With Pulmonary Atresia and Major Aortopulmonary Collateral Arteries in a Patient With Interstitial Deletion of 16q21-q22.12008

    • Author(s)
      下島圭子, 山本俊至
    • Journal Title

      ゲノム医学 2

      Pages: 67-71

    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Novel SLC12A1(NKCC2)Mutations in Two Families with Bartter Syndrome Type 12008

    • Author(s)
      Adachi M, Asakura Y, Sato Y, Tajima T, Nakajima T, Yamamoto T, Fujieda K
    • Journal Title

      Endcrine Journal (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Tetralogy of Fallot Associated With Pulmonary Atresia and Major Aortopulmonary Collateral Arteries in a Patient With Interstitial Deletion of 16q21-q22.12008

    • Author(s)
      Yamamoto T, Dowa Y, Ueda H, Kawataki M, Asou T, Sasaki Y, Harada N, Matsumoto N, Matsuoka R, Kurosawa K
    • Journal Title

      American Journal of Medical Genetics (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C(Opitz Trigonocephaly)Syndrome2007

    • Author(s)
      Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K
    • Journal Title

      American Journal of Human Genetics 81

      Pages: 835-841

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] 軽度発達障害の症状の理解2007

    • Author(s)
      山本俊至
    • Journal Title

      地域リハビリテーション 2

      Pages: 576-579

    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] GPC3 Mutations in Seven Patients with Simpson-Golabi-Behmel Syndrome2007

    • Author(s)
      Sakazume S, Okamoto N, Yamamoto T, Kurosawa K, Numabe H, Ohash Yi, Kako Y, Nagai T, Ohashi H
    • Journal Title

      American Journal of Medical Genetics 143

      Pages: 1703-1707

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome2007

    • Author(s)
      Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K
    • Journal Title

      American Journal of Human Genetics 81巻

      Pages: 835-841

    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] A newly recognized microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behavior, short stature, microcephaly, and dysmorphic features : a new patient with 3.2-Mb deletion

    • Author(s)
      Liang J-S, Shimojima K, Ohno K, Sugiura C, Une Y, Ohno K, Yamamoto T
    • Journal Title

      Journal of Medical Genetics (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Proximal interstitial 1p36 deletion syndrome : the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3) (p14.1q26.2)

    • Author(s)
      Shimoiima K, Paez MT, Kurosawa K, Yamamoto T
    • Journal Title

      Brain and Development (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.

    • Author(s)
      Komoike Y, Fuju K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi T, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T
    • Journal Title

      Genesis (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.

    • Author(s)
      Shimojima K, Isidor B, Le Caignec C, Kondo A, Sakata S, Ohno K, Yamamoto T.
    • Journal Title

      Am J Med Genet

      Volume: (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] 疾患の責任遺伝子に関する研究の進歩

    • Author(s)
      山本俊至
    • Journal Title

      脳と発達

      Volume: (印刷中)

    • NAID

      10030801902

    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Journal Article] ゲノムコピー数異常と疾患iPS細胞を用いた病態解析

    • Author(s)
      山本俊至、下島圭子
    • Journal Title

      東京女子医科大学雑誌

      Volume: (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A newly recognized microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behavior, short stature, microcephaly, and dysmorphic features : a new patient with 3.2-Mb deletion

    • Author(s)
      Liang J-S, Shimojima K, Ohno K, Sugiura C, Une Y, Ohno K, Yamamoto T.
    • Journal Title

      Journal of Medical Genetics (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] 疾患の責任遺伝子に関する研究の進歩

    • Author(s)
      山本俊至
    • Journal Title

      脳と発達

      Volume: (印刷中)

    • NAID

      10030801902

    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications

    • Author(s)
      Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, and Yamamoto T
    • Journal Title

      Brain and Development (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Vertebral Fusion in a Patient with Supernumerary-der(22)t(11;22) Syndrome

    • Author(s)
      Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S and Kawano Y
    • Journal Title

      American Journal of Medical Genetics (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications

    • Author(s)
      Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T
    • Journal Title

      Brain and Development (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathigenesis of developmental delay in Wolf-Hirshhorn syndrome.

    • Author(s)
      Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K
    • Journal Title

      Am J Med Genet (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.

    • Author(s)
      Komoike Y, Shimojima K, Liang JS, Fujii H, Maegaki Y, Osawa M, Fujii S, Higashinakagawa T, Yamamoto T
    • Journal Title

      J Hum Genet (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay

    • Author(s)
      Shimojima K, Saito K, Yamamoto T
    • Journal Title

      American Journal of Medical Genetics (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Spondylometaphyseal dysplasia with cone-rod dystrophy A case report.

    • Author(s)
      Kitoh H, Kaneko H, Nishimura G, Kondo M, Yamamoto T, Ishiguro N.
    • Journal Title

      Am J Med Genet

      Volume: (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region

    • Author(s)
      Yamamoto T, 他7名
    • Journal Title

      Eur J Med Genet

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Clinical features of microdeletion 9q22.3 (pat)

    • Author(s)
      Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T
    • Journal Title

      Clinical Genetics (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] Brainstem disconnection associated with nodular heterotopia and proatlantal arteries.

    • Author(s)
      Okumura A, Lee T, Shimojima K, Hisada K, Shoji H, Takanashi J, Yamamoto T, Shimizu T, Barkovich JA
    • Journal Title

      Am J Med Genet (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.

    • Author(s)
      Inage E, Suzuki M, Minowa K, Akimoto N, Hisata K, Shoji H, Okumura A, Shimojima K, Shimizu T, Yamamoto T
    • Journal Title

      Eur J Med Genet (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Genomic copy number variations at 17p13.3 and epileptogenesis.

    • Author(s)
      Shimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T
    • Journal Title

      Epilepsy Res (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH

    • Author(s)
      Shimojima K, Yamamoto T
    • Journal Title

      American Journal of Medical Genetics (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Journal Article] 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

    • Author(s)
      Yamamoto T, 他12名
    • Journal Title

      Seizure

      Volume: (in press)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] 疾患の責任遺伝子に関する研究の進歩

    • Author(s)
      山本俊至
    • Journal Title

      脳と発達

      Volume: (in press)

    • NAID

      10030801902

    • Data Source
      KAKENHI-PROJECT-21591334
  • [Journal Article] Vertebral Fusion in a Patient with Supernumerary-der(22)t(11 ; 22) Syndrome

    • Author(s)
      Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, Kawano Y
    • Journal Title

      American Journal of Medical Genetics (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 遺伝学的診断の進め方:染色体アレイ解析から全ゲノム解析まで2023

    • Author(s)
      山本俊至
    • Organizer
      第65回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder2023

    • Author(s)
      2. Shimomura R, Yanagishita T, Ishiguro K, Shichiji M, Sato T, Shimojima Yamamoto K, Ishigaki K, Nagata S, Nagata M, Asano Y, Yamamoto T
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] A novel FBN1 variant associated with mild cardiac phenotype of neonatal Marfan syndrome2023

    • Author(s)
      Shirai K, Shimomura R, Kameyama S, Kondo T, Yamamoto T
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] 生殖医療分野における遺伝学的検査の質保証2023

    • Author(s)
      山本俊至
    • Organizer
      第30回日本遺伝子診療学会大会/第8回クリニカルバイオバンク学会シンポジウム・合同学術集会
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] 保険適用となったマイクロアレイ染色体検査を実施した37例の検討2023

    • Author(s)
      坂本晴子, 秋丸憲子, 藤野寿典, 住本真一, 山本俊至
    • Organizer
      第47回日本遺伝カウンセリング学会学術集会
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] Type 2 congenital generalized lipodystrophy by NOTCH2 variant2023

    • Author(s)
      Imaizumi T, Shimomura R, Machida O, Yanagishita T, Shimojima Yamamoto K, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Yamamoto T
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] Potocki-Lupski症候群家族会の支援2023

    • Author(s)
      柳下友映, 下村里奈, 町田 修, 山本圭子, 永田 智, 山本俊至
    • Organizer
      第65回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-23K07257
  • [Presentation] PGT-SR using aCGH and FISH analysis for detecting unbalanced chromosome segments involving less than 5Mb: A Case Report2023

    • Author(s)
      Kato K, Kawasaki N, Hayashi H, Ohata K, Miki T, Usami A, Yamamoto T, Kuroda T
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] Type 2 congenital generalized lipodystrophy by NOTCH2 variant2023

    • Author(s)
      Imaizumi T, Shimomura R, Machida O, Yanagishita T, Shimojima Yamamoto K, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Yamamoto T
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K07257
  • [Presentation] MAGI1を含む3p14微細欠失の2例2023

    • Author(s)
      町田 修, 柳下友映, 下村里奈, 田村豪良, 下島圭子, 岡本伸彦, 永田 智, 山本俊至
    • Organizer
      第65回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-23K07257
  • [Presentation] Efficiency of PGT-SR in chromosomally balanced translocation couples2023

    • Author(s)
      Yamazaki A, Kawasaki N, Kuroda T, Kato K, Takeshita T, Kuwahara A, Iwasa T, Irahara M, Yamamoto T
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] マイクロアレイ染色体検査結果の解釈について2023

    • Author(s)
      山本俊至
    • Organizer
      第7回認定遺伝カウンセラーアドバンスド研修会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder2023

    • Author(s)
      Shimomura R, Yanagishita T, Ishiguro K, Shichiji M, Sato T, Shimojima Yamamoto K, Ishigaki K, Nagata S, Nagata M, Asano Y, Yamamoto T
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] Impairment of endothelial function in patients with ischemia with non-obstructive coronary arteries.2023

    • Author(s)
      Akiko Sakai, Kayoko Sato, Risako Nakao, Atsushi Yamamoto, Michinobu Nagao, Junichi Yamaguchi
    • Organizer
      第85回日本循環器学会学術集会
    • Data Source
      KAKENHI-PROJECT-21K08117
  • [Presentation] 乳がんの術前におけるBRCA遺伝学的検査が患者に及ぼす心理的影響について2023

    • Author(s)
      佐藤裕子, 浦野真理, 加藤環, 松尾真理, 池田有美, 山本俊至, 齋藤加代子
    • Organizer
      第47回日本遺伝カウンセリング学会学術集会
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] Homozygous KCTD3 nonsense variant due to UPD associated with syndromic developmental epileptic encephalopathy2023

    • Author(s)
      Yamamoto T, Shimojima Yamamoto K, Yoshimura A, Kanno H
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] 2番染色体の短腕と長腕の2か所に偶発的に生じた微細欠失による神経発達障害を示した1例2023

    • Author(s)
      町田 修, 拜地愛子, 下村里奈, 柳下友映, 永田 智, 下島圭子, 石原康貴, 宮下洋平, 朝野仁裕, 山本俊至
    • Organizer
      第46回日本小児遺伝学会
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] 遺伝と医療倫理について2023

    • Author(s)
      山本俊至
    • Organizer
      第693回日本小児科学会東京都地方会講話会
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] 2番染色体の短腕と長腕の2か所に偶発的に生じた微細欠失による神経発達障害を示した1例2023

    • Author(s)
      町田 修, 拜地愛子, 下村里奈, 柳下友映, 永田 智, 下島圭子, 石原康貴, 宮下洋平, 朝野仁裕, 山本俊至
    • Organizer
      第46回日本小児遺伝学会
    • Data Source
      KAKENHI-PROJECT-23K07257
  • [Presentation] A novel GNAO1 variant identified in a patient with clinically diagnosed as cerebral palsy2023

    • Author(s)
      Machida O, Imaizumi T, Miyamoto Y, Shimomura R, Yanagishita T, Shimojima Yamamoto K, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Yamamoto T
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] MAGI1を含む3p14微細欠失の2例2023

    • Author(s)
      町田 修, 柳下友映, 下村里奈, 田村豪良, 下島圭子, 岡本伸彦, 永田 智, 山本俊至
    • Organizer
      第65回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] バリアント解釈の見直しを契機に確定診断に至ったStormorken症候群の一例2023

    • Author(s)
      近藤恵里, 浦野真理, 佐藤裕子, 加藤環, 松尾真理, 朝野仁裕, 山本俊至, 齋藤加代子
    • Organizer
      第47回日本遺伝カウンセリング学会学術集会
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder2023

    • Author(s)
      Shimomura R, Yanagishita T, Ishiguro K, Shichiji M, Sato T, Shimojima Yamamoto K, Ishigaki K, Nagata S, Nagata M, Asano Y, Yamamoto T
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K07257
  • [Presentation] Homozygous KCTD3 nonsense variant due to UPD associated with syndromic developmental epileptic encephalopathy2023

    • Author(s)
      Yamamoto T, Shimojima Yamamoto K, Yoshimura A, Kanno H
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K07257
  • [Presentation] 精神運動発達遅滞と筋緊張低下を呈し、全エクソームシーケンスにより確定診断に至ったGNAO1異常症の1例2023

    • Author(s)
      橋詰拓摩, 佐藤孝俊, 柳下友映, 村上てるみ, 朝野仁裕, 山本俊至, 永田 智
    • Organizer
      第80回日本小児神経学会関東地方会
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] A novel GNAO1 variant identified in a patient with clinically diagnosed as cerebral palsy2023

    • Author(s)
      Machida O, Imaizumi T, Miyamoto Y, Shimomura R, Yanagishita T, Shimojima Yamamoto K, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Yamamoto T
    • Organizer
      Human Genetics Asia 2023
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K07257
  • [Presentation] Potocki-Lupski症候群家族会の支援2023

    • Author(s)
      柳下友映, 下村里奈, 町田 修, 山本圭子, 永田 智, 山本俊至
    • Organizer
      第65回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] 巣状分節性糸球体硬化症の小児腎移植患者における臨床病理学的評価に基づく遺伝子解析の検討2022

    • Author(s)
      三浦健一郎、金子直人、橋本多恵子、石塚喜世伸、白井陽子、久野正貴、近本裕子、秋岡祐子、神田祥一郎、張田豊、山本俊至、服部元史
    • Organizer
      第58回日本移植学会総会
    • Data Source
      KAKENHI-PROJECT-21K07829
  • [Presentation] Precise clinicopathologic findings for application of genetic testing in pediatric kidney transplant recipients with focal segmental glomerulosclerosis/steroid-resistant nephrotic syndrome.2022

    • Author(s)
      Miura K, Kaneko N, Hashimoto T, Ishizuka K, Shirai Y, Hisano M, Chikamoto H, Akioka Y, Kanda S, Harita Y, Yamamoto T, Hattori M.
    • Organizer
      19th International Pediatric Nephrology Association Congress
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07829
  • [Presentation] 13N- ammonia PET for diagnosis and monitoring of microvascular angina.2022

    • Author(s)
      Akiko Sakai, Kayoko Sato, Risako Nakao, Kiyoe Ando, Atsushi Yamamoto, Mitsuru Momose, Michinobu Nagao, Nobuhisa Hagiwara
    • Organizer
      第84回日本循環器学会学術集会 (Synposium)
    • Data Source
      KAKENHI-PROJECT-21K08117
  • [Presentation] 【シンポジウム8】「NIPT(Non-Invasive Prenatal Genetic Testing)の現状と今後」2022

    • Author(s)
      山本俊至
    • Organizer
      第58回 日本周産期・新生児医学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] マイクロアレイ検査とてんかんについて2022

    • Author(s)
      山本俊至
    • Organizer
      第13回 北海道小児神経研究会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] アレイCGHの臨床現場での活用2022

    • Author(s)
      山本俊至
    • Organizer
      New Insights of Molecular Genetics on Growth Disorders 2022
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] Clinical application of genetic testing in pediatric kidney transplant recipients with FSGS.2022

    • Author(s)
      Miura K, Kaneko N, Hashimoto T, Ishizuka K, Shirai Y, Hisano M, Chikamoto H, Akioka Y, Kanda S, Harita Y, Yamamoto T, Hattori M.
    • Organizer
      Transplantation Science Symposium Asian Regional Meeting 2022,
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-21K07829
  • [Presentation] 【教育講演】出生前診断・着床前診断の現状と課題2022

    • Author(s)
      山本俊至
    • Organizer
      第125回日本小児科学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] 染色体微細構造異常とてんかん症候群2021

    • Author(s)
      山本俊至
    • Organizer
      第54回日本てんかん学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] 保険診療となるマイクロアレイ染色体検査の小児神経疾患領域での運用2021

    • Author(s)
      山本俊至
    • Organizer
      第63回日本小児神経学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-21K07873
  • [Presentation] 小児神経科医が知っておくべき臨床遺伝学的検査.2020

    • Author(s)
      山本俊至
    • Organizer
      第20回常総セミナー
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Presentation] 小児神経科医が知っておくべきゲノム医療2019

    • Author(s)
      山本俊至
    • Organizer
      第69回日本小児神経学会関東地方会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Presentation] 着床前染色体異数性診断(PGT-A)に用いる染色体数的異常の診断方法の検討.2019

    • Author(s)
      山本俊至, 山本圭子, 恩藤由美子, 青山直樹, 黒田知子, 加藤恵一.
    • Organizer
      臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Presentation] 神経発達障害に対するクリニカルシーケンスの診断効率.2019

    • Author(s)
      山本俊至, 今泉太一, 山本圭子, 柳下友映, 瀬戸俊之, 岡本伸彦.
    • Organizer
      日本人類遺伝学会第64回大会
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Presentation] 4pモノソミー症候群10例における遺伝子型・表現型相関解析2019

    • Author(s)
      山本俊至, 山本-下島圭子, 幸脇正典, 鞁嶋有紀, 糸見和也, 百崎謙, 小篠史郎, 岡本伸彦, 横地健治
    • Organizer
      第60回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Presentation] Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.2019

    • Author(s)
      Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Seto T, Okamoto N.
    • Organizer
      The 59th Annual Meeting of the Japanese Teratology Society/ The 13th World Congress of the International Cleftlip and Palate Foundation -CLEFT 2019-
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Presentation] 着床前染色体異数性診断の現状と課題2019

    • Author(s)
      山本俊至
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-18K07803
  • [Presentation] Neuro-functional analysis using disease-specific iPS cells2017

    • Author(s)
      Yamamoto T, Shimojima K
    • Organizer
      Bulletin of the Japanese Sciety for Neurochemistry
    • Data Source
      KAKENHI-PROJECT-15K09631
  • [Presentation] Genetic basis of benign infantile epilepsy.2015

    • Author(s)
      Yamamoto T
    • Organizer
      International Symposium on Benign Infantile Seizures (ISBIS), The 17th Annual Meeting of Infantile Seizure Society
    • Place of Presentation
      National Center of Sciences Building (Tokyo, Japan)
    • Year and Date
      2015-09-25
    • Invited / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09631
  • [Presentation] 疾患患者由来iPS細胞の樹立と病態解析:中枢神経障害への応用2012

    • Author(s)
      下島圭子, 山本俊至
    • Organizer
      第54回日本小児神経学会総会
    • Place of Presentation
      札幌
    • Year and Date
      2012-05-17
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Presentation] エクソーム解析の前にやっておくべきこと2012

    • Author(s)
      山本俊至
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Year and Date
      2012-10-25
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Presentation] 細胞遺伝学の進歩2012

    • Author(s)
      山本俊至
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Year and Date
      2012-10-25
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Presentation] 先天性小児神経疾患領域における遺伝医学の進歩2012

    • Author(s)
      山本俊至
    • Organizer
      第52回日本先天異常学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2012-07-06
    • Invited
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Presentation] CDKL5変異は男児における難治性てんかん脳症にも関連している2011

    • Author(s)
      山本俊至, 他17名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Schinzel-Giedion症候群の原因遺伝子SETBP1のハプロ不全は非特異的な精神発達遅滞の原因となる2011

    • Author(s)
      山本俊至, 他2名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 皮質下嚢胞を伴う巨脳性白質脳症の1例2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011

    • Author(s)
      Yamamoto, T., et al
    • Organizer
      12th International Congress of Human Genetics
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011

    • Author(s)
      Yamamoto, T., et al
    • Organizer
      12th International Congress of Human Genetics
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Presentation] A novel mutation in GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome2011

    • Author(s)
      Yamamoto T, 他2名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] CDKL5遺伝子異常に伴うてんかんの早期診断の手がかり2011

    • Author(s)
      山本俊至, 他11名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Collybistinの機能喪失はてんかんを伴う症候性X連鎖精神発達遅滞の原因となる2011

    • Author(s)
      山本俊至, ら
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Presentation] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish2011

    • Author(s)
      Yamamoto T, 他8名
    • Organizer
      The 60th Annual Meeting ASHG
    • Place of Presentation
      Washington DC, USA
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 1p36欠失症候群の本邦における実態と欠失範囲の同定2011

    • Author(s)
      山本俊至, 他3名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 新規微細欠失症候群の確立; 5q31.3 deletion syndrome2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Xq11.1に位置するARHGEF9遺伝子のnullisomyは精神遅滞・てんかんの原因となる2011

    • Author(s)
      山本俊至, 他3名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 新規変異を認めたSimpson-Golabi-Behmel Syndromeの一例2011

    • Author(s)
      山本俊至, 他5名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] CDKL5微小欠損に肺炎球菌感染症を反復したIgG2サブクラス欠損症の1例2011

    • Author(s)
      山本俊至, 他8名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Collybistinの機能喪失はてんかんを伴う症候性X連鎖精神発達遅滞の原因となる2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 14q24.3微細欠失によるEIF2B2のunmasked mutationで発症したVanishing White Metter disease2011

    • Author(s)
      山本俊至, 他7名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 小児てんかん脳症におけるCDKL5の包括的解析2011

    • Author(s)
      山本俊至, 他9名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Schinzel-Giedion症候群の原因遺伝子SETBP1のハプロ不全は非特異的な精神発達遅滞の原因となる2011

    • Author(s)
      山本俊至, ら
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Presentation] Pelizaeus-Merzbacher病患者由来iPS細胞の樹立と病態解析2011

    • Author(s)
      山本俊至, 他8名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 小児てんかん脳症におけるCDKL5の包括的解析2011

    • Author(s)
      山本俊至, ら
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Presentation] 先天性大脳白質形成不全症の診断基準と疾患分類の作成2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 先天性大脳白質形成不全症の統合的研究の推進2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] トリオサンプルを用いた先天性疾患のエクソーム解析2011

    • Author(s)
      山本俊至, 他8名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] トリオサンプルを用いた先天性疾患のエクソーム解析2011

    • Author(s)
      山本俊至, ら
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Presentation] 中枢神経病態解析を目指したダウン症候群患者由来iPS細胞の樹立2011

    • Author(s)
      山本俊至, 他1名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 1p36欠失症候群の本邦における実態と欠失範囲の同定2011

    • Author(s)
      山本俊至, ら
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PUBLICLY-23110534
  • [Presentation] A comprehensive nationwide epidemiological survey for Pelizaeus-Merzbacher disease and associated disorders in Japan2011

    • Author(s)
      Yamamoto T, 他9名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011

    • Author(s)
      Yamamoto T, 他8名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 5q31.3新規微細欠失症候群2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      第34回日本小児遺伝学会学術集会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Pelizaeus-Merzbacher病患者由来iPS細胞の樹立と病態解析2011

    • Author(s)
      山本俊至, 他8名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] MECP2領域微細重複の4例2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination2011

    • Author(s)
      Yamamoto T, 他6名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Skeletal anomalies and severe language disorder with submicroscopic deletion in 12q13 including HOXC cluster2011

    • Author(s)
      Yamamoto T, 他2名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] TULIP1(RALGAPA1)haploinsufficiency with brain development delay.2010

    • Author(s)
      K.Shimojima, Y.Komoike, J.Tohyama, S.Takahashi, M.Paez, E.Nakagawa, Y.Goto, K.Ohno, M.Ohtsu, H.Oguni, M.Osawa, T.Higashinakagawa, T.Yamamoto.
    • Organizer
      60th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      Washington DC
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 点頭てんかんを発症したWilliams症候群の2症例2010

    • Author(s)
      向田壮一, 今井克美, 下島圭子, 山本俊至, 池上真理子, 池田浩子, 高山留美子, 最上友紀子, 高橋幸利
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 先天性大脳白質形成不全症:難治性疾患克服事業による希少疾患の統合的研究の推進2010

    • Author(s)
      井上健, 岩城明子, 小坂仁, 黒澤健司, 高梨潤一, 出口貴美子, 山本俊至
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] シンポジウム臨床細胞遺伝学領域へのマイクロアレイ技術の導入:わが国の取組みCytogenetic Array解析-結果解釈の重要性2010

    • Author(s)
      山本俊至
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Failure of spermatogenesis in distal Xp nullisomy might be associated with miss-conjunction of sex chromosomes.2010

    • Author(s)
      Y.Kido, S.Sakazume, K.Obata, N.Murakami, Y.Ooto, K.Shimojima, T.Yamamoto, T.Nagai.
    • Organizer
      60th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      Washington DC
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 軽症胃腸炎に伴うけいれん患者におけるSCN1B遺伝子解析2010

    • Author(s)
      山下進太郎, 山本俊至, 下島圭子, 奥村彰久, 大友義之, 新島新一
    • Organizer
      第44回日本てんかん学会
    • Place of Presentation
      岡山
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Prader-Willi症候群とソトス症候群の合併例2010

    • Author(s)
      山本俊至, 他4名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] TULIP1のハプロ不全は、発達遅滞と難治性てんかんの原因となる2010

    • Author(s)
      山本俊至, 他12名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Atypical benign partial epilepsy様のてんかんを呈した8p欠失/重複の2例てんかん責任領域の検討2010

    • Author(s)
      中山東城, 青天目信, 中川栄二, 斎藤義朗, 下島圭子, 山本俊至, 奥村恵子, 藤江弘美, 植松貢, 小牧宏文, 須貝研司, 佐々木征行
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 染色体検査における事前説明の重要性に関する考察:娘の染色体検査結果の受容が困難であった母親の事例より2010

    • Author(s)
      山本俊至, 他3名
    • Organizer
      第34回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2010-05-28
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] ダウン症候群責任領域のハプロ不全による臨床症状2010

    • Author(s)
      山本俊至, 下島圭子, 伊藤昌弘, 今井克美
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 複数のde novoゲノムコピー数異常が同時に生じることは稀ではない?2010

    • Author(s)
      山本俊至, 他3名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] モーニングセミナー先天性大脳白質形成不全症の診断と治療に向けた研究2010

    • Author(s)
      井上健, 小坂仁, 黒澤健司, 高梨潤一, 山本俊至, 岩城明子
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.2010

    • Author(s)
      T.Yamamoto, Y.Komoike, K.Shimojima, J-S.Liang, Y.Fujii, Y.Maegaki, M.Osawa, S.Fujii,T.Higashinakagawa.
    • Organizer
      60th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      Washington DC
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] イブニングセミナー、アレイCGH法によるデジタル染色体解析における遺伝カウンセリングの重要性2010

    • Author(s)
      山本俊至
    • Organizer
      第34回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Atypical benign partial epilepsy様のてんかんを呈した8p欠失/9p重複の2例:てんかん責任領域の検討2010

    • Author(s)
      山本俊至, 他12名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] TULIP1のハプロ不全は、発達遅滞と難治性てんかんの原因となる2010

    • Author(s)
      下島圭子, 遠山潤, 大津真優, 中川栄二, 後藤雄一, 大野耕策, 小国弘量, 大澤真木子, 山本俊至
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 皮質下嚢胞を伴う巨脳性白質脳症の1例2010

    • Author(s)
      西村洋子, 豊嶋大作, 戸川雅美, 近藤章子, 前垣義弘, 大野耕策, 山本俊至
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 染色体検査における事前説明の重要性に関する考察G-band法でX染色体構造異常を指摘された女児例の遺伝カウンセリングから2010

    • Author(s)
      下島圭子, 山本俊至, 浦野真理, 齋藤加代子
    • Organizer
      第34回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] アレイCGH解析で診断に至ったJacobsen症候群の1例2010

    • Author(s)
      高橋郁子, 高橋勉, 澤田賢一, 下島圭子, 山本俊至
    • Organizer
      第33回日本小児遺伝学会学術集会
    • Place of Presentation
      盛岡
    • Year and Date
      2010-04-22
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] ランチョンセミナーアレイCGH法が臨床遺伝学にもたらしたもの2010

    • Author(s)
      山本俊至
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Prader-Willi症候群とSotos症候群の合併例2010

    • Author(s)
      岡本伸彦, 秋丸憲子, 松田圭子, 下島圭子, 山本俊至
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 17番染色体p13.1領域の微細欠失とゼブラフィッシュによるGABARAP機能解析2010

    • Author(s)
      蒋池勇太, 下島圭子, 梁昭鉱, 藤井裕士, 前垣義弘, 大澤真木子, 藤井早紀子, 東中川徹, 山本俊至
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] TULIP1のハプロ不全は、発達遅滞と難治性てんかんの原因となる2010

    • Author(s)
      山本俊至, 他8名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] MODY原因遺伝子領域における微細ゲノム構造異常の解析2010

    • Author(s)
      滝澤美保, 岩崎直子, 山本俊至, 岩本安彦
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] MODY(Maturity-Onset Diabetes of the Young)原因遺伝子領域におけるゲノム構造異常の解析2010

    • Author(s)
      滝澤美保, 岩崎直子, 山本俊至, 尾形真規子, 藤巻理沙, 富岡光枝, 岩本安彦
    • Organizer
      第53回日本糖尿病学会年次学術集会
    • Place of Presentation
      岡山
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] CDKL5遺伝子異常を有する乳児早期発症てんかんの検討発作型と脳波について2010

    • Author(s)
      大谷早苗, 今井克美, 高橋宏佳, 高山留美子, 最上友紀子, 大谷英之, 池田浩子, 重松秀夫, 美根潤, 高橋幸利, 下島圭子, 山本俊至, 井上有史
    • Organizer
      第44回日本てんかん学会
    • Place of Presentation
      岡山
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 9q34欠失症候群5例の臨床研究2010

    • Author(s)
      山本俊至, 他2名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 次世代シーケンサーによる遺伝性筋疾患の網羅的遺伝子変異解析2010

    • Author(s)
      近藤恵理, 山本俊至, 古川徹, 斎藤加代子
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 顔貌異常、肝硬変、小脳髄を呈した剖検例2010

    • Author(s)
      神田祥子, 林雅晴, 渥美聡, 田沼直之, 熊田聡子, 山本俊至
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] TULIP1 haploinsufficiency with brain development delay2010

    • Author(s)
      Yamamoto T, 他12名
    • Organizer
      The 60th Annual Meeting ASHG
    • Place of Presentation
      Washington DC, USA
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 9q34欠失症候群5例の臨床研究2010

    • Author(s)
      岡本伸彦, 山本俊至, 下島圭子
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] ジストロフィン遺伝子を含む6-Mbの欠失を認めたXp21隣接遺伝子症候群の1例2010

    • Author(s)
      渡辺美緒, 椎原隆, 片山綾子, 小牧宏文, 下島圭子, 山本俊至
    • Organizer
      日本人類遺伝学会第55回大会20101027-20101030
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 点頭てんかんを発症したWilliams症候群の2症例2010

    • Author(s)
      山本俊至, 他8名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] シンポジウム. Cytogenetic Array-国内の取り組み-. Cytogenetic Array-結果解釈の重要性2010

    • Author(s)
      山本俊至
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Williams症候群責任領域近傍のYWHAGは点頭てんかんと心肥大の原因となり得る2010

    • Author(s)
      蒋池勇太, 下島圭子, 藤井克則, 東浩二, 安川久美, 河野陽一, 大澤真木子, 東中川徹, 山本俊至
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 6番染色体長腕中間部欠失を認めた3例Prader-Willi like phenotypeの責任領域の検討2010

    • Author(s)
      下島圭子, 岡本伸彦, 益山龍雄, 荒井康裕, 山本俊至
    • Organizer
      第33回日本小児遺伝学会学術集会
    • Place of Presentation
      盛岡
    • Year and Date
      2010-04-22
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] ゲノム構造異常を伴うMODY5に認められた表現型の多様性、またはHeterogeneous phenotype associated with MODY5 caused by a genomic rearrangement.2010

    • Author(s)
      岩崎直子, 滝澤美保, 山本俊至, 斎藤加代子, 尾形真規子, 岩本安彦
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 複数のde novoゲノムコピー数異常が同時に生じることは稀ではない?2010

    • Author(s)
      山本俊至, 下島圭子, 木部哲也, 横地健治
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 先天性大脳白質形成不全症の診断と治療に向けた研究2010

    • Author(s)
      井上健, 小坂仁, 黒澤健司, 高梨潤一, 山本俊至, 岩城明子
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Diamond Blackfan貧血に関する新規の病因候補遺伝子同定2010

    • Author(s)
      菅野仁, 山本俊至, 大賀正一, 立石浩, 濱田貴子, 槍澤大樹, 小倉浩美, 藤井寿一
    • Organizer
      第17回日本遺伝子診療学会大会
    • Place of Presentation
      津
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Williams症候群責任領域近傍のYWHAGは点頭てんかんと心肥大の原因となり得る2010

    • Author(s)
      山本俊至, 他9名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] ランチョン;アレイCGH法が臨床遺伝にもたらしたもの2010

    • Author(s)
      山本俊至
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 17番染色体p13.1領域の微細欠失とゼブラフィッシュによるGABARAP機能解析2010

    • Author(s)
      山本俊至, 他8名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] TULIP1のハプロ不全は精神発達遅滞とてんかんの原因となり得る2010

    • Author(s)
      下島圭子, 蒋池勇太, 遠山潤, Paez MarcoT, 中川栄二, 後藤雄一, 大野耕策, 高橋苑子, 大津真優, 小国弘量, 大澤真木子, 東中川徹, 山本俊至
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      さいたま
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] アレイCGHによるデジタル染色体解析における遺伝カウンセリングの重要性2010

    • Author(s)
      山本俊至
    • Organizer
      第34回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2010-05-28
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] ダウン症候群責任領域のハプロ不全による臨床症状2010

    • Author(s)
      山本俊至, 他3名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Diamond-Blackfan貧血の病因候補遺伝子探索を目的としたアレイCGH2009

    • Author(s)
      菅野仁, 山本俊至, 濱田貴子, 斎藤加代子, 槍澤大樹, 藤井寿一
    • Organizer
      第13回日本遺伝子診療学会大会
    • Place of Presentation
      札幌
    • Year and Date
      2009-07-30
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 16番染色体短腕モノソミーの同胞例2009

    • Author(s)
      松尾真理, 永田仁郎, 山本俊至, 下島圭子, 斎藤加代子, 大澤真木子
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 高密度オリゴアレイCGH法による微細染色体異常診断と遺伝カウンセリング2009

    • Author(s)
      山本俊至, 下島圭子, 斎藤加代子
    • Organizer
      第112回日本小児科学会学術集会
    • Place of Presentation
      奈良
    • Year and Date
      2009-04-19
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 14番由来のマーカー染色体を持ちWest症候群をきたした14番染色体母性片親性ダイソミーの1例2009

    • Author(s)
      遠山潤, 長崎啓祐, 山本俊至, 斉藤伸治
    • Organizer
      第32回日本小児遺伝学会学術集会
    • Place of Presentation
      奈良
    • Year and Date
      2009-04-16
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Wolf-Hirshhorn症候群責任領域の検討2009

    • Author(s)
      奥野博庸, 前山克博, 佐藤清二, 山本俊至, 鳥居千春, 小崎里華, 小崎健次郎
    • Organizer
      第32回日本小児遺伝学会学術集会
    • Place of Presentation
      奈良
    • Year and Date
      2009-04-16
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 重症RS ウイルス性肺炎により呼吸不全に至った染色体異常46,XX,del(2)(q23q24.2)を伴う乳児の治療経験[指定発言]2009

    • Author(s)
      山本俊至
    • Organizer
      第562回日本小児科学会東京都地方会講話会
    • Place of Presentation
      本郷
    • Year and Date
      2009-01-10
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 16歳で確定診断に至った21qモノソミーモザイクの一例2009

    • Author(s)
      松尾真理, 渥美聡, 下島圭子, 小森穂子, 斎藤加代子, 大澤真木子, 山本俊至
    • Organizer
      第33回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      西宮
    • Year and Date
      2009-07-24
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 先天性大脳白質形成不全の全国疫学調査および遺伝子解析研究の推進について2009

    • Author(s)
      井上健, 小坂仁, 黒澤健司, 高梨潤, 山本俊至, 岩城明子
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] アレイCGH法で明らかになった家族性ゲノムコピー数変化2009

    • Author(s)
      山本俊至, 下島圭子, 斎藤加代子
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] EP300遺伝子領域の重複はRubinstein-Taybi症候群の臨床症状の一部を生じる2009

    • Author(s)
      下島圭子, 田中恭子, 山本俊至
    • Organizer
      第32回日本小児遺伝学会学術集会
    • Place of Presentation
      奈良
    • Year and Date
      2009-04-16
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 22番染色体q11.21-q11.23重複による精神発達遅滞とてんかん2009

    • Author(s)
      下島圭子, 今井克美, 山本俊至
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] MODY症例における原因遺伝子領域のgenomic rearrangementの検索2009

    • Author(s)
      滝澤美保, 岩崎直子, 山本俊至, 尾形真規子, 渡辺淳, 鶴見昌史, 浅井邦也, 水野杏一, 岩本安彦
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] CADPS2ハプロ不全と広汎性発達障害を合併した1例2009

    • Author(s)
      岡本伸彦, 松田圭子, 秋丸憲子, 下島圭子, 山本俊至
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 声帯麻痺が主症状の13番染色体長腕部分欠失の一例2009

    • Author(s)
      高野由紀子, 大森意索, 清水光政, 渡邊とよ子, 山本俊至
    • Organizer
      第32回日本小児遺伝学会学術集会
    • Place of Presentation
      奈良
    • Year and Date
      2009-04-16
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Microdeletion and triplication around 17p13 including PAFAH1B/LIS1 in three patients with MR and epilepsy.2009

    • Author(s)
      Yamamoto T, Shimojima K, Sugiura C, Takahashi H, Kubota Y, Takahashi Y, Saito K
    • Organizer
      59th Annual Meeting of American Society of Human genetics
    • Place of Presentation
      Honolulu
    • Year and Date
      2009-10-21
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] Cerebrocostomandibular syndromeの一女児例2009

    • Author(s)
      西恵理子, 山本俊至, 藤巻英彦, 孫田みゆき, 山田恭聖, 水野誠司
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 筋緊張低下と精神発達遅滞を認め、アレイCGH法で3q13.2q13.31の1.9-Mbの中間部欠失を認めた1女児例2009

    • Author(s)
      下島圭子, 斎藤加代子, 山本俊至
    • Organizer
      第33回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      西宮
    • Year and Date
      2009-07-24
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] 多発奇形と精神発達遅滞を伴いアレイCGH法により5q31に5Mbの欠失を認めた女児例2009

    • Author(s)
      下島圭子, 近藤章子, 坂田晋史, 大野耕策, 山本俊至
    • Organizer
      第112回日本小児科学会学術集会
    • Place of Presentation
      奈良
    • Year and Date
      2009-04-19
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] アレイCGH法によるデジタル染色体解析の進歩2009

    • Author(s)
      山本俊至
    • Organizer
      第51回日本小児神経学会総会
    • Place of Presentation
      米子
    • Year and Date
      2009-05-28
    • Data Source
      KAKENHI-PROJECT-21591334
  • [Presentation] ヒト15番染色体セントロメア領域におけるCNV 分布2008

    • Author(s)
      山本俊至, 下島圭子
    • Organizer
      第31回日本分子生物学会年会・第81回日本生化学会大会合同大会
    • Place of Presentation
      神戸
    • Year and Date
      2008-12-09
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 高密度オリゴアレイを利用したPelizaeus-Merzbacher病の効率的な診断システム2008

    • Author(s)
      下島圭子, 星野 愛, 小沢 浩, 久保田雅也, 斉藤加代子, 山本俊至
    • Organizer
      第111回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] アレイCGHにより22q13.1-q13.31の中間部重複を同定しか1男児例2008

    • Author(s)
      下島圭子, 田中恭子, 山本俊至
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      横浜
    • Year and Date
      2008-09-22
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 小児神経疾患の診断における高密度オリゴアレイの意義2008

    • Author(s)
      山本俊至, 下島圭子, 遠山 潤, 奥村彰久, 前垣義弘, 小国弘量
    • Organizer
      第50回日本小児神経学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] Hepatocyte nuclear factor-1遺伝子領域を含む巨大欠失を認めたMODY52008

    • Author(s)
      岩崎直子, 尾形真規子, 藤巻理沙, 滝澤美保, 富岡光枝, 山本俊至, 岩本安彦
    • Organizer
      第51回日本糖尿病学会年次学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 血清Helicobacter pylori IgG抗体価および血清ペプシノゲン値と内視鏡所見の検討2008

    • Author(s)
      春山浩美, 水野謙治, 岸野真衣子, 小西洋之, 中村真一, 白鳥敬子, 山本俊至
    • Organizer
      第50回日本消化器病学会総会
    • Place of Presentation
      東京
    • Year and Date
      2008-10-01
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] A newly recognized microdeletion syndrome of 2p15-16.1 : a new patient with 3.2-Mb deletion2008

    • Author(s)
      Jao-Shwann Liang, 下島圭子, 大野光洋, 杉浦千登勢, 大野耕策, 山本俊至
    • Organizer
      日本人類遺伝学会第53 回大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGHアレイにより1p36の中間部微細欠失を認めた3番染色体逆位の1例2008

    • Author(s)
      下島圭子, Marco T Paez, 黒澤健司, 山本俊至
    • Organizer
      第31回日本小児遺伝学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] New microdeletion syndrome involving 2p15-16.1 in a patient with developmental delay identified by CGH-array2008

    • Author(s)
      Jao-Shwann Liang, Keiko Shimojima, Koyo Ohno, Chitose Sugiura, Yukiharu Une, Kousaku Ohno, Toshivuki Yamamoto
    • Organizer
      第50回日本小児神経学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGH アレイにより1p36 の中間部微細欠失を認めた3 番染色体逆位の1 例2008

    • Author(s)
      下島圭子, Marco T Paez, 黒澤健司, 山本俊至
    • Organizer
      第31回日本小児遺伝学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 声帯麻痺を合併し、新生児仮死で出生したPelizaeus-Merzbacher 病の一症例2008

    • Author(s)
      垣内五月, 木村有希, 森田清子, 近藤雅楽子, 大森意索, 清水光政, 渡辺とよ子, 下島圭子, 山本俊至
    • Organizer
      第44回日本周産期・新生児医学会
    • Place of Presentation
      横浜
    • Year and Date
      2008-07-14
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 半年で大脳白質変性の急速な進行をきたしたvanishing white matter diseaseの乳児発症例2008

    • Author(s)
      星野 愛, 冨田 直, 熊田聡子, 花房由希子, 仁後綾子, 奥村さやか, 栗原栄二, 山本俊至
    • Organizer
      第50回日本小児神経学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 新生児発作の診断の手引きとその受け入れ状況2008

    • Author(s)
      奥村彰久, 新島新一, 山本仁, 山野恒一
    • Organizer
      第44回日本周産期新生児医学会総会
    • Place of Presentation
      横浜(仮称)
    • Year and Date
      2008-07-15
    • Data Source
      KAKENHI-PROJECT-20591306
  • [Presentation] アレイCGH により22q13.1-q13.31 の中間部重複を同定した1 男児例2008

    • Author(s)
      下島圭子, 田中恭子, 山本俊至
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 声帯麻痺を合併し、新生児仮死で出生したPelizaeus-Merzbacher病の-症例2008

    • Author(s)
      垣内五月, 木村有希, 森田清子, 近藤雅楽子, 大森意索, 清水光政, 渡辺とよ子, 下島圭子, 山本俊至
    • Organizer
      第44回日本周産期・新生児医学会
    • Place of Presentation
      横浜
    • Year and Date
      2008-07-14
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 特異顔貌・発達遅滞・てんかんを呈し46,Y,dup(X)(p21.1p22.1) を呈する一卵性双生児の男児2008

    • Author(s)
      矢野珠巨, 沢石由記夫, 山本俊至,渡部泰弘, 高橋勉
    • Organizer
      第42回日本てんかん学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 高密度オリゴアレイによる小児神経疾患の診断2008

    • Author(s)
      山本俊至, 下島圭子, 遠山 潤, 奥村彰久, 前垣義弘, 小国弘量
    • Organizer
      第111回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] アレイCGH とfiber-FISH 法を用いたゲノム重複メカニズムの解明2008

    • Author(s)
      下島圭子, 井上岳彦, 齋藤加代子, 山本俊至
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] アナログとデジタルによるゲノム構造解析 : アレイCGH とfiber-FISH 法の融合2008

    • Author(s)
      下島圭子, 山本俊至
    • Organizer
      第31回日本分子生物学会年会・第81回日本生化学会大会合同大会
    • Place of Presentation
      神戸
    • Year and Date
      2008-12-09
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 多彩な症状を示した16p11.2 微細欠失の母子例2008

    • Author(s)
      山本俊至, 下島圭子, 井上岳彦, 藤井裕士, 大野耕策
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 高密度オリゴアレイ ; 先天異常への臨床応用(シンポジウム)2008

    • Author(s)
      山本俊至
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 高密度オリゴアレイとfiver-FISH法を用いたPelizaeus-Merzbacher病におけるPLP1遺伝子の重複メカニズムの解明2008

    • Author(s)
      下島圭子, 井上岳彦, 齋藤加代子, 山本俊至
    • Organizer
      第50回日本小児神経学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] A newly recognized microdeletion syndrome of 2p15-16.1 : a new patient with 3.2-Mb deletion2008

    • Author(s)
      Jao-Shwann Liang, 下島圭子, 大野光洋, 杉浦千登勢, 大野耕策, 山本俊至
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      横浜
    • Year and Date
      2008-09-22
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] Hepatocyte nuclear factor-1 遺伝子領域を含む巨大欠失を認めたMODY52008

    • Author(s)
      岩〓直子, 尾形真規子, 藤巻理沙, 滝澤美保, 富岡光枝, 山本俊至, 岩本安彦
    • Organizer
      第51回日本糖尿病学会年次学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 7番染色体長腕同一腕内ダブル欠失新しい欠失メカニズム?2008

    • Author(s)
      下島圭子, 奥村彰久, 山本俊至
    • Organizer
      第111回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2008-04-28
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] Wolf-Hirshhorn症候群患者家族会におけるアンケート調査2008

    • Author(s)
      下島圭子, 山本俊至
    • Organizer
      第32回日本遺伝カウンセリング学会学術集会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 多彩な症状を示した16p11.2微細欠失の母子例2008

    • Author(s)
      山本俊至, 下島圭子, 井上岳彦, 藤井裕士, 大野耕策
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      横浜
    • Year and Date
      2008-09-22
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 高密度オリゴアレイとfiver-FISH 法を用いたPelizaeus-Merzbacher 病におけるPLP1遺伝子の重複メカニズムの解明2008

    • Author(s)
      下島圭子, 井上岳彦, 齋藤加代子, 山本俊至
    • Organizer
      第50回日本小児神経学会総会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] ヒト15番染色体セントロメア領域におけるCNV分布2008

    • Author(s)
      山本俊至, 下島圭子
    • Organizer
      第31回日本分子生物学会年会・第81回日本生化学会大会 合同大会
    • Place of Presentation
      神戸
    • Year and Date
      2008-12-09
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 特異顔貌・発達遅滞・てんかんを呈し46, Y, dup(X)(p21.1p22.1)を呈する一卵性双生児の男児2008

    • Author(s)
      矢野珠巨, 沢石由記夫, 山本俊至, 渡部泰弘, 高橋 勉
    • Organizer
      第42回日本てんかん学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] Williams症候群のトータルケア-当院における包括的遺伝子医療プロジェクト2008

    • Author(s)
      下島圭子, 古谷道子, 山本俊至, 古谷喜幸, 竹内大二, 稲井 慶, 中西敏雄, 松岡瑠美子
    • Organizer
      第44回日本小児循環器学会総会・学術集会
    • Place of Presentation
      郡山
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] アナログとデジタルによるゲノム構造解析 : アレイCGHとfiber-FISH法の融合2008

    • Author(s)
      下島圭子, 山本俊至
    • Organizer
      第31回日本分子生物学会年会・第81回日本生化学会大会 合同大会
    • Place of Presentation
      神戸
    • Year and Date
      2008-12-09
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] アレイCGHとfiber-FISH法を用いたゲノム重複メカニズムの解明2008

    • Author(s)
      下島圭子, 井上岳彦, 齋藤加代子, 山本俊至
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      横浜
    • Year and Date
      2008-09-22
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] New microdeletion syndrome involving 2p15-16.1 in a patient with developmental delay identified by CGH-array2008

    • Author(s)
      Liang J-S, Shimojima K, Ohno K, Sugiura C, Une Y, Ohno K, Yamamoto T
    • Organizer
      第50回日本小児神経学会総会
    • Place of Presentation
      東京会
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] Whole gene deletion mutation of the HNF-1 gene in Japanese patients with MODY2008

    • Author(s)
      Iwasaki N, Yamamoto T, Watanabe J, Ogata M, Takizawa M, Iwamoto Y
    • Organizer
      44th Annual Meeting of the EASD European Association for the Study of Diabetes
    • Place of Presentation
      Rome, Italy
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGHアレイによる小児神経疾患患者におけるゲノムコピー数異常の解析2007

    • Author(s)
      山本俊至, 下島圭子
    • Organizer
      第30回日本分子生物学会・第80回日本生化学会大会合同大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 染色体転座切断点解析によるOpitz三角頭蓋症候群の原因同定と病態解析2007

    • Author(s)
      要 匡, 柳 久美子, 知念安紹, 蒔田芳男, 前原博樹, 岡本伸彦, 山本俊至, 黒澤健司, 福嶋義光, Opitz JM, 吉浦孝一郎, 新川詔夫, 成富研二
    • Organizer
      第30回日本分子生物学会・第80回日本生化学会大会合同大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGH アレイにてPTCH 遺伝子を含む9q22領域の微細欠失を認めGorlin 症候群と診断された1 例2007

    • Author(s)
      下島圭子, 安達昌功, 黒澤健司, 山本俊至
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] アレイCGH で確定した7番染色体部分欠失(q21→q22)の1例2007

    • Author(s)
      山本俊至, 奥村彰久
    • Organizer
      第49回日本小児神経学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGHアレイによる小児神経疾患の診断2007

    • Author(s)
      山本俊至, 下島圭子, Marco T Paez, Yen-ha Tran, 新井正一
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] Critical region for trigonocephaly in a patient with monosomy 9p syndrome analyzed by CGH-array2007

    • Author(s)
      Shimojima K, Yamamoto T
    • Organizer
      3rd Congress of Asian Society for Pediatric Research
    • Place of Presentation
      Tokyo
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] Candidate gene analyses for moyamoya disease2007

    • Author(s)
      Marco T Paez, Masaki Shintani, Keiko Shimojima, Hidenori Sugano, Toshiyuki Yamamoto
    • Organizer
      第30回日本分子生物学会・第80回日本生化学会大会合同大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGHアレイにより診断された14番染色体長腕微細欠失による症候性全般てんかんの1例2007

    • Author(s)
      下島圭子, 山本俊至, 遠山 潤
    • Organizer
      第1回てんかん学会関東甲信越地方会
    • Place of Presentation
      東京
    • Year and Date
      2007-05-19
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGHアレイによるPelizaeus-Merzbacher病の遺伝子診断2007

    • Author(s)
      下島圭子, Yen Ha Tran, Marco T Paez, 新井正一, 山本俊至
    • Organizer
      第31回遺伝カウンセリング学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGH アレイによる小児神経疾患の診断2007

    • Author(s)
      山本俊至, 下島圭子, Marco T Paez, Yen-ha Tran, 新井正一
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGHアレイにてPTCH遺伝子を含む9q22領域の微細欠失を認めGorlin症候群と診断された1例2007

    • Author(s)
      下島圭子, 安達昌功, 黒澤健司, 山本俊至
    • Organizer
      第551回日本小児科学会東京都地方会講和会
    • Place of Presentation
      東京
    • Year and Date
      2007-10-13
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGH アレイにより診断された14番染色体長腕微細欠失による症候性全般てんかんの1例2007

    • Author(s)
      下島圭子, 山本俊至, 遠山潤
    • Organizer
      第1回てんかん学会関東甲信越地方会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGHアレイにてPTCH遺伝子を含む9q22領域の微細欠失を認めGorlin症候群と診断された1例2007

    • Author(s)
      下島圭子, 安達昌功, 黒澤健司, 山本俊至
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGH アレイによるPelizaeus-Merzbacher 病の遺伝子診断2007

    • Author(s)
      下島圭子, Yen Ha Tran, Marco T Paez, 新井正一, 山本俊至
    • Organizer
      第31回遺伝カウンセリング学会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] Single nucleotide polymorphisms of TIMP2 gene in Japanese patients with moyamoya disease2007

    • Author(s)
      Marco T Paez, Toshiyuki Yamamoto
    • Organizer
      第49回日本小児神経学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGHアレイにより診断された22番染色体長腕サブテロメア欠失によるてんかん・精神発達障害の1例2007

    • Author(s)
      新井正一, Yenha Tran, 下島圭子, Marco T Paez, 山本俊至, 遠山 潤
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] Comprehensive molecular investigation for moyamoya disease2007

    • Author(s)
      Marco Paez, Masaki Shintani, Keiko Shimojima, Hidenori Sugano, Toshiyuki Yamamoto
    • Organizer
      3rd Congress of Asian Society for Pediatric Research
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGH アレイにてPTCH 遺伝子を含む9q22 領域の微細欠失を認めGorlin 症候群と診断された1 例2007

    • Author(s)
      下島圭子, 安達昌功, 黒澤健司, 山本俊至
    • Organizer
      第551回日本小児科学会東京都地方会講和会
    • Place of Presentation
      東京
    • Year and Date
      2007-10-13
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGHアレイ法による9p欠失症候群男児例における欠失範囲の同定と三角頭蓋の原因遺伝子座の究明2007

    • Author(s)
      下島圭子, 山本俊至
    • Organizer
      第30回日本分子生物学会・第80回日本生化学会大会合同大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] アレイCGH法による先天性心疾患のゲノム構造の解析2007

    • Author(s)
      浅川修一, 村山裕治, 山本俊至, 古谷喜幸, 松岡瑠美子, 清水信義
    • Organizer
      第30回日本分子生物学会・第80回日本生化学会大会合同大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] 大動脈弁上狭窄患者におけるelastin遺伝子解析の意義2007

    • Author(s)
      Tran Yenha, 新井正一, 古谷喜幸, 城尾邦隆, 山本俊至, 松岡瑠美子
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] Critical region for trigonocephaly in a patient with monosomy 9p syndrome analyzed by CGH-array2007

    • Author(s)
      Keiko Shimojima, Toshiyuki Yamamoto
    • Organizer
      3rd Congress of Asian Society for Pediatric Research
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGH アレイにより診断された22番染色体長腕サブテロメア欠失によるてんかん・精神発達障害の1例2007

    • Author(s)
      新井正一, Yenha Tran, 下島圭子, MarcoT Paez, 山本俊至, 遠山 潤
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] C症候群の原因解析2007

    • Author(s)
      柳 久美子, 要 匡, 知念安紹, 蒔田芳男, 岡本伸彦, 前原博樹, 久保田義顕, 尾池雄一, 山本俊至, 黒澤健司, 福嶋義光, Axel Bohring, John Opitz M, 吉浦孝一郎, 新川詔夫, 成富研二
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] CGH アレイ法による9p 欠失症候群男児例における欠失範囲の同定と三角頭蓋の原因遺伝子座の究明2007

    • Author(s)
      下島圭子, 山本俊至
    • Organizer
      第30回日本分子生物学会・第80回日本生化学会大会合同大会
    • Place of Presentation
      横浜
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] アレイCGHで確定した7番染色体部分欠失(q21→q22)の1例2007

    • Author(s)
      山本俊至, 奥村彰久
    • Organizer
      第49回日本小児神経学会総会
    • Place of Presentation
      大阪
    • Data Source
      KAKENHI-PROJECT-19591225
  • [Presentation] Polymorphisms analysis of endoglin gene in patients with moyamoya disease2007

    • Author(s)
      Marco T paez, 下島圭子, 新谷正樹, 山本俊至, 菅野秀宣
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19591225
  • 1.  Miura Kenichiro (70408483)
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 3 results
  • 2.  NANBA Eiji (40237631)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 3.  SHIMOJIMA Keiko (30578935)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 25 results
  • 4.  OKUMURA Akihisa (60303624)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 5.  HAYAKAWA Masahiro (40343206)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 6.  NAKAYAMA Tojo (40613302)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 7.  KURE Shigeo (10205221)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 8.  HIROSE Shinichi (60248515)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 9.  TAKESHITA Kenzo (90037375)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 10.  MAEOKA Yukinori (30273890)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 11.  AKABOSHI Shinziro (90231810)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 12.  SUZUKI Yoshiyuki (90010389)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 13.  MAEGAWA Shinji (70314606)
    # of Collaborated Projects: 1 results
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  • 14.  汐田 まどか (00252867)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 15.  服部 元史 (50192274)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 16.  栗原 秀剛 (80311976)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 17.  佐藤 加代子 (20246482)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 18.  安藤 太郎 (30894802)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 19.  江口 誠 (60852150)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 20.  江原 寛昭
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 21.  NAGAO Michinobu
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 22.  HARITA Yutaka
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 23.  BABAYA Naru
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 24.  NOSO Shinsuke
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 25.  KAWABATA Yumiko
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 26.  HIROMINE Yoshihisa
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 27.  KITA Yosuke
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 28.  倉橋 宏和
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 29.  要 匡
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 30.  柳 久美子
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 31.  井上 健
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 32.  高梨 潤一
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 33.  鶴崎 美徳
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 34.  丸 義朗
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 35.  神田 祥一郎
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 36.  柴田 磨己
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 37.  加藤 武馬
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 38.  宮井 俊輔
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 39.  前垣 義弘
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 40.  池上 博司
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 41.  石井 敦士
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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