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

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Researcher Number	20252851
Other IDs	https://orcid.org/0000-0002-9484-3505
Affiliation (Current)	2024: 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 / 発達障害 / アレイCGH / 中枢神経障害 / Pelizaeus-Merzbacher病 / WAGR症候群 … More / リピート / バリアント / long-read sequencer / 染色体異常 / inv-dup-del / DUP-INV/TRP-DUP / chromothripsis / 染色体微細異常 / 染色体微細構造異常 / long sequence / デジタルPCR / 染色体構造異常 / 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 / ネフローゼ症候群 / ネフリン / 蛋白尿 / ポドサイト / 細胞周期 / mitotic catastrophe / 尿中ポドサイト / 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

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
尿中ポドサイトを用いた難治性ネフローゼ症候群の病態進展機序の解明
- Principal Investigator
  
  三浦健一郎
- 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
トランスポゾンと核内高次構造から解き明かす複雑な染色体構造異常の発生メカニズムPrincipal Investigator
- Principal Investigator
  
  山本俊至
- 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

[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 NKX2-1 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 & 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 13N 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 ALDH7A1 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 PLP1 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 SZT2 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. 三浦健一郎 (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

# of Collaborated Products: 0 results
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

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# of Collaborated Products: 1 results
35. 神田祥一郎

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# of Collaborated Products: 1 results
36. 柴田磨己

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# of Collaborated Products: 2 results
37. 加藤武馬

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# of Collaborated Products: 1 results
38. 宮井俊輔

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# of Collaborated Products: 1 results
39. 前垣義弘

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# 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

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# of Collaborated Products: 1 results

yamamoto toshiyuki 山本 俊至

Yamamoto Toshiyuki 山本 俊至

YAMAMOTO Toshiyuki 山本 俊至

山本 俊至 ヤマモト トシユキ

Research Projects

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Co-Researchers

Development of treatment for late-onset renal dysfunction in WAGR syndromePrincipal Investigator

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トランスポゾンと核内高次構造から解き明かす複雑な染色体構造異常の発生メカニズムPrincipal Investigator

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Elucidation of the mechanism for neurodevelopmental disorder derived from chromosomal microstructural abnormalitiesPrincipal Investigator

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Elucidation of synaptic dysfunctions in patients with developmental disorderPrincipal Investigator

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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

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Comprehensive analysis for genomic contribution in neuron network and transcriptsPrincipal Investigator

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Contribution of large scale genomic copy number variation in the pathogenesis of congenital disordersPrincipal Investigator

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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

yamamoto toshiyuki 山本俊至

Yamamoto Toshiyuki 山本俊至

YAMAMOTO Toshiyuki 山本俊至

山本俊至ヤマモトトシユキ

[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