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SAITOH Shinji  齋藤 伸治

… Alternative Names

斎藤 伸治  サイトウ シンジ

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Researcher Number 00281824
Other IDs
  • ORCIDhttps://orcid.org/0000-0001-6911-3351
Affiliation (Current) 2025: 名古屋市立大学, 医薬学総合研究院(医学), 教授
Affiliation (based on the past Project Information) *help 2019 – 2024: 名古屋市立大学, 医薬学総合研究院(医学), 教授
2016 – 2018: 名古屋市立大学, 大学院医学研究科, 教授
2017: 名古屋市立大学, 医学(系)研究科(研究院)
2011 – 2015: 名古屋市立大学, 医学(系)研究科(研究院), 教授
2014: 名古屋市立大学, 大学院医学研究科, 教授 … More
2013: 名古屋市立大学, 医学研究科, 教授
2011: 名古屋市立大学, 大学院・医学研究科, 教授
2010: 北海道大学, 北海道大学病院, 講師
2009: Hokkaido University, 大学病院, 講師
2009: 北海道大学病院, 講師
2007: Hokkaido University, Hokkaido University Hospital, Lecturer
2006 – 2007: Hokkaido Univ., Hokkaido University Hosp., Lecturer, 大学病院, 講師
2006: Hokkaido University, Assistant Professor
2005 – 2006: 北海道大学, 北海道大学病院, 講師
2005: 北海道大学, 病院・講師
2005: 北海道大学, 北海道大学・病院, 講師
2003: Hokkaido Univ., Grad.School of Med., Inst., 医学部・歯学部附属病院, 助手
2003: 北海道大学, 医学部付属病院, 助手
2002 – 2003: 北海道大学, 医学部附属病院, 助手
1998 – 2002: 北海道大学, 医学部・附属病院, 助手
1997: 北海道大学, 医学部附属病院, 助手 Less
Review Section/Research Field
Principal Investigator
Pediatrics / Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Medium-sized Section 52:General internal medicine and related fields / Biological Sciences
Except Principal Investigator
Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Human genetics / Rehabilitation science/Welfare engineering / Basic Section 48040:Medical biochemistry-related … More / Basic Section 52040:Radiological sciences-related / Broad Section I / Embryonic/Neonatal medicine / 基礎・地域看護学 / Pediatrics Less
Keywords
Principal Investigator
巨脳症 / Angelman syndrome / Prader-Willi syndrome / histone acetylation / epigenetics / imprinting / ゲノム刷り込み現象 / 神経発生 / 遺伝子診断 / ATR-X … More / DNA methylation / 精神遅滞 / Prader-Willi症候群 / iPS細胞 / オルガノイド / 神経幹細胞 / 外側放射状グリア / 脳オルガノイド / エンドソーム / MAGEL2 / VPS35L / retromer / retriever / 膜蛋白 / エンドソームリサイクル / MYCN / 脳形成 / 脳・神経 / 次世代シーケンシング / mTOR / Genetic counseling / Epigenetics / Genetic diagnosis / エビジェネティクス / 遺伝カウンセリング / エピジェネティクス / アンジェルマン症候群 / carrier diagnosis / DNA diagnosis / mental retardation / ATRX / サラセミア / 保因者診断 / Proder-Willi症候群 / ヒストンアセチル化 / DNAメチル化 / 虹彩欠損 / 小脳萎縮 / Gillespie症候群 / 脳磁図 / てんかん / Angelmen症候群 / 小児神経学 / DNAmethylation / UBE3A / Angelman症候群 … More
Except Principal Investigator
小児 / 脳オルガノイド / 脳・神経 / 再生医学 / 性腺機能低下症 / 遺伝子変異 / DAX-1 / エピジェネティック / RNA-FISH / 相同染色体 / エピジェネティクス / 遺伝子発現 / ゴナドトロピン / 脳磁図 / リハビリテーション / 再利用 / 膜タンパク / 胎生致死 / 個体発生 / リサイクリング・エンドソーム / 脳形成障害 / リン脂質 / PNPLA8 / 髄芽腫 / 小児がん / 一次繊毛 / 神経幹細胞 / 脳神経 / セグメンテーション / MRI / 遺伝病 / AI / 脳神経疾患 / 神経化学 / 1細胞解析 / X染色体不活化 / 1細胞解析 / 内在性神経幹細胞 / 脳室下帯 / 内在性幹細胞 / 低酸素性虚血性脳症 / 胆汁うっ滞 / 次世代高速シークエンサー / 遺伝子解析 / 体質性黄疸 / 遺伝学的解析 / 新生児胆汁うっ滞 / Rotor症候群 / Dubin-Johnson症候群 / 遺伝性抱合型高ビリルビン血症 / B型肝炎 / B型慢性肝炎 / ワクチンエスケープ変異 / ワクチン / HBV / 母子感染 / 遺伝子 / B型肝炎ウイルス / エスケープ変異 / B型肝炎 / テストステロン治療 / hCG-rhFSH治療 / ゴナドトロピン分泌低下症 / Epileptic syndrome / Spatial filtering analysis / Magnetoencephalography / Children / Epilepsy / てんかん症候群 / 空間フィルター法 / てんかん / visual evaluation / spatial frequency / observation / rehabilitation / residual vision / pupillary response / contrast sensitivity / cerebral visual impairment / 縮瞳 / 視察法 / 視覚評価 / 空間周波数 / 視察 / 残存視覚 / 瞳孔反応 / コントラスト感度 / 大脳性視覚障害 / father's adaptation / family support / disabled child / 父親の役割 / 障害の受容 / 父親の受容過程 / 家族支援 / 障害児 / Gonadotropin / Gene regulation / Gene exression / Congenital adrenal hypoplasia / Molecular enetics / ゴナドロピン / 遺伝子制御 / 先天性副腎低形成症 / 15q1 / 三次元距離 / 核内配置 / SNRPN / 片親性発現 / 3D-FISH解析 / RNA-FISH解析 / 単一細胞解析 / 3D-FISH / インプリンティング / 三次元核内配置 / ゴナドトロピン療法 / 性腺 / 低身長 / 思春期 / 小児内分泌学 / 言語機能検査 / 非侵襲的評価 / 言語発達遅滞 / 急性脳症 / 言語機能 / Werdnig-Hoffmann / 系統的アプローチ / パソコン / コミュニケーション / 自発的活動 / 作業療法 / スイッチ活動 / 遠隔支援 / アンケート / Werdnig-Hoffman / 脊髄性筋萎縮症 / ND5,ND6遺伝子 / 呼吸鎖酵素複合体I / タウリン修飾 / アンチコドン修飾異常 / Leigh症侯群 / 13513変異 / 呼吸鎖酵素複合体1 / tRNA修飾異常 / ロイシン転移RNA / Leigh症候群 / MELAS / ミトコンドリア病 Less
  • Research Projects

    (31 results)
  • Research Products

    (166 results)
  • Co-Researchers

    (72 People)
  •  Integrative approach for mechanism of megalencephalyPrincipal Investigator

    • Principal Investigator
      齋藤 伸治
    • Project Period (FY)
      2024 – 2026
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Nagoya City University
  •  To elucidate the mechanisms of tumor development of neural stem cells using medulloblastoma organoid model.

    • Principal Investigator
      嶋田 逸誠
    • Project Period (FY)
      2024 – 2027
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Nagoya City University
  •  PNPLA関連神経変性疾患の発症メカニズム解明と治療法開発

    • Principal Investigator
      根岸 豊
    • 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
      Nagoya City University
  •  The role of the recycling systems of cell surface protein on the mammalian development

    • Principal Investigator
      大石 久史
    • Project Period (FY)
      2023 – 2025
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 48040:Medical biochemistry-related
    • Research Institution
      Nagoya City University
  •  遺伝病のthin slice撮像と人工知能による磁気共鳴画像診断法の樹立

    • Principal Investigator
      中川 基生
    • Project Period (FY)
      2021 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52040:Radiological sciences-related
    • Research Institution
      Nagoya City University
  •  Endosomal recycling disorders: a novel disease entity caused by endosomal recycling defectsPrincipal Investigator

    • Principal Investigator
      Saitoh Shinji
    • Project Period (FY)
      2020 – 2021
    • Research Category
      Grant-in-Aid for Challenging Research (Exploratory)
    • Review Section
      Medium-sized Section 52:General internal medicine and related fields
    • Research Institution
      Nagoya City University
  •  Neurogenesis and its pathogenesis in the neonatal brain: an integrated understanding using advanced analytical techniques

    • Principal Investigator
      澤本 和延
    • Project Period (FY)
      2020 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (S)
    • Review Section
      Broad Section I
    • Research Institution
      Nagoya City University
  •  Uncover pathomechanism of megalencephaly using brain organdies.Principal Investigator

    • Principal Investigator
      Saitoh Shinji
    • Project Period (FY)
      2020 – 2023
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Nagoya City University
  •  A role of MYCN in neurodevelopment and in a novel syndromePrincipal Investigator

    • Principal Investigator
      Saitoh Shinji
    • Project Period (FY)
      2018 – 2019
    • Research Category
      Grant-in-Aid for Challenging Research (Exploratory)
    • Review Section
      Medium-sized Section 52:General internal medicine and related fields
    • Research Institution
      Nagoya City University
  •  A study of molecular genetic analysis to hereditary conjugated hyperbilirubinemia with next-generation sequencing

    • Principal Investigator
      Takao Togawa
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Nagoya City University
  •  Clinical application of neural repair mechanisms in the brain by endogenous neural stem cells to neonatal hypoxic-ischemic encephalopathy

    • Principal Investigator
      KATO TAKENORI
    • Project Period (FY)
      2017 – 2020
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Embryonic/Neonatal medicine
    • Research Institution
      Nagoya City University
  •  Comprehensive analysis of HBV genes in pediatric HBV carriers

    • Principal Investigator
      Ito Koichi
    • Project Period (FY)
      2016 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Nagoya City University
  •  Genetic and biochemical analyses of mTOR related megalencephalyPrincipal Investigator

    • Principal Investigator
      Saitoh Shinji
    • Project Period (FY)
      2016 – 2017
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Nagoya City University
  •  Comprehensive next-generation sequencing analyses for therapeutic application to get fertility in congental hypogonadotropic hypogonadism males

    • Principal Investigator
      Mizuno Haruo
    • Project Period (FY)
      2015 – 2018
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      International University of Health and Welfare
      Nagoya City University
  •  Research for single cell expression analysis and epigenetic mechanism using RNA-FISH analyses

    • Principal Investigator
      Wakui Keiko
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Shinshu University
  •  Molecular genetic study of Gillespie syndromePrincipal Investigator

    • Principal Investigator
      Saitoh Shinji
    • Project Period (FY)
      2014 – 2015
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Nagoya City University
  •  Comprehensive next-generation sequencing analyses of the regulation of onset of puberty

    • Principal Investigator
      MIZUNO HARUO
    • Project Period (FY)
      2012 – 2014
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Nagoya City University
  •  The three-dimensional distances between the genes on each homologous chromosome in each cell as nuclear organization and genomic expression of the imprinted gene.

    • Principal Investigator
      WAKUI Keiko
    • Project Period (FY)
      2012 – 2013
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Human genetics
    • Research Institution
      Shinshu University
  •  Recovering process from language dysfunction caused by brain damage in children using magnetoencephalography

    • Principal Investigator
      SHIRAISHI Hideaki
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Hokkaido University
  •  Pathophysilogy of brain dysfunction in Angelman and Prader-Willi syndrome.Principal Investigator

    • Principal Investigator
      SAITOH Shinji
    • Project Period (FY)
      2009 – 2011
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Nagoya City University
      Hokkaido University
  •  Remote support aimed at the acquisition of switch activities for children with spinal muscular atrophy type I

    • Principal Investigator
      SAKAI Shinya
    • Project Period (FY)
      2007 – 2009
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Rehabilitation science/Welfare engineering
    • Research Institution
      Hokkaido University
  •  Magnetoencepharographic analyses by spatial filtering for child patients with epilepsy

    • Principal Investigator
      SHIRAISHI Hideaki
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Hokkaido University
  •  小児ミトコンドリア病の表現型を決定する遺伝的因子について

    • Principal Investigator
      SUDOH Akira (須藤 彰)
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Hokkaido University
  •  The validity and reliability of pupillary responses to gratings for children with cerebral visual impairment

    • Principal Investigator
      SAKAI Shinya
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Rehabilitation science/Welfare engineering
    • Research Institution
      Hokkaido University
  •  Establishment of genetic diagnosis and genetic counseling of Angelman syndrome.Principal Investigator

    • Principal Investigator
      SAITOH Shinji
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Hokkaido University
  •  Molecular genetic study of X-linked mental retardation・αthalassemia syndrome (ATR-X)Principal Investigator

    • Principal Investigator
      SAITOH Shinji
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      HOKKAIDO UNIVERSITY
  •  A study of how to support for "a family with a disabled child" focusing on father's adaptation process and the relationship between parents.

    • Principal Investigator
      SAITOH Sakae
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      基礎・地域看護学
    • Research Institution
      University of Tsukuba
      Hokkaido University
  •  ヒト15q11-q13およびマウス相同領域における刷り込み地図の作成に関する研究Principal Investigator

    • Principal Investigator
      斉藤 伸治
    • Project Period (FY)
      2001
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas (C)
    • Review Section
      Biological Sciences
    • Research Institution
      Hokkaido University
  •  Reactivation of imprinted genes in Prader-Willi syndrome.Principal Investigator

    • Principal Investigator
      SAITOH Shinji
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      HOKKAIDO UNIVERSITY
  •  Angelman症候群患者におけるUBE3A遺伝子の変異解析とその応用Principal Investigator

    • Principal Investigator
      斉藤 伸治
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Encouragement of Young Scientists (A)
    • Research Field
      Pediatrics
    • Research Institution
      Hokkaido University
  •  STRUCTURE-FUNCTION ANALYSIS OF DAX-1 USING Molecular analysis

    • Principal Investigator
      FUJIEDA kenji
    • Project Period (FY)
      1997 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Hokkaido University

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

All Journal Article Presentation Book

  • [Book] 徐派睡眠時持続性棘・徐波(をもつ)てんかん(ECSWS)日本てんかん学会編集「てんかん専門医ガイドブック」2014

    • Author(s)
      白石秀明、亀山茂樹、馬場啓至、赤松直樹、池田昭夫、岡田元宏、小国弘量、川合謙介、須貝研司、廣瀬伸一、渡辺雅子、池田仁、伊藤ますみ、井上有史、今井克美、岩崎真樹、臼井直敬、大石実、大槻泰介、奥村彰久、柿田明美、加藤天美、加藤光広、兼子直、兼本浩祐、木下真幸子、久保田英幹、小林勝弘、齋藤伸治、斎藤義朗、笹川睦男 他
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-23591488
  • [Book] 診断手順と技法、Prader-Willi症候群の基礎と臨床2011

    • Author(s)
      齋藤伸治、永井敏郎
    • Publisher
      診断と治療社
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Book] Angelman症候群の運動発達、小児科臨床ピクシス19ここまでわかった小児の発達2010

    • Author(s)
      齋藤伸治、五十嵐隆
    • Publisher
      中山書店
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Journal Article] Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants2023

    • Author(s)
      Inoue Yuta、Tsuchida Naomi、Okamoto Nobuhiko、Shuichi Shimakawa、Ohashi Kei、Saitoh Shinji、Ogawa Atsushi、Hamada Keisuke、Sakamoto Masamune、Miyake Noriko、Hamanaka Kohei、Fujita Atsushi、Koshimizu Eriko、Miyatake Satoko、Mizuguchi Takeshi、Ogata Kazuhiro、Uchiyama Yuri、Matsumoto Naomichi
    • Journal Title

      Clinical Genetics

      Volume: 103 Issue: 5 Pages: 590-595

    • DOI

      10.1111/cge.14292

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21K06051, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-21K15907, KAKENHI-PROJECT-23K24308, KAKENHI-PROJECT-23K18278, KAKENHI-PROJECT-23K07229, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-23K27520, KAKENHI-PROJECT-23K27568
  • [Journal Article] An Optochemical Oxygen Scavenger Enabling Spatiotemporal Control of Hypoxia2023

    • Author(s)
      Ieda Naoya、Sawada Masato、Oguchi Runa、Itoh Masato、Hirakata Seina、Saitoh Daisuke、Nakao Akito、Kawaguchi Mitsuyasu、Sawamoto Kazunobu、Yoshihara Toshitada、Mori Yasuo、Nakagawa Hidehiko
    • Journal Title

      Angewandte Chemie International Edition

      Volume: 62 Issue: 20

    • DOI

      10.1002/anie.202217585

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K06395, KAKENHI-PROJECT-22K06505, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20K05752, KAKENHI-PUBLICLY-21H00290, KAKENHI-PROJECT-21K15208, KAKENHI-ORGANIZER-21H05258, KAKENHI-PLANNED-21H05259, KAKENHI-PROJECT-23K25173
  • [Journal Article] Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome2023

    • Author(s)
      Nishio Yosuke、Kato Kohji、Tran Mau-Them Frederic、Futagawa Hiroshi、Quelin Chloe、Masuda Saori、Vitobello Antonio、Otsuji Shiomi、Shawki Hossam H.、Oishi Hisashi、Thauvin-Robinet Christel、Takenouchi Toshiki、Kosaki Kenjiro、Takahashi Yoshiyuki、Saitoh Shinji
    • Journal Title

      Human Genetics and Genomics Advances

      Volume: 4 Issue: 4 Pages: 100238-100238

    • DOI

      10.1016/j.xhgg.2023.100238

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-23K14945, KAKENHI-PROJECT-23KJ1817, KAKENHI-PROJECT-23K05601, KAKENHI-PROJECT-20H03646
  • [Journal Article] Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant2022

    • Author(s)
      Yamamoto Kosuke、Ohashi Kei、Fujimoto Masanori、Ieda Daisuke、Nakamura Yuji、Hattori Ayako、Kaname Tadashi、Ieda Kuniko、Nishino Ichizo、Saitoh Shinji
    • Journal Title

      Brain and Development

      Volume: 44 Issue: 8 Pages: 578-582

    • DOI

      10.1016/j.braindev.2022.04.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Journal Article] Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A2022

    • Author(s)
      Isobe Kouji、Ieda Daisuke、Miya Fuyuki、Miyachi Rieko、Otsuji Shiomi、Asai Masami、Tsunoda Tatsuhiko、Kosaki Kenjiro、Hattori Ayako、Saitoh Shinji、Mizuno Mihoko
    • Journal Title

      Brain and Development

      Volume: 44 Issue: 3 Pages: 249-253

    • DOI

      10.1016/j.braindev.2021.11.007

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-20H03646
  • [Journal Article] Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.2022

    • Author(s)
      Narita K, Muramatsu H, Narumi S, Nkawa T, Okumura A, et al.
    • Journal Title

      Sci Rep

      Volume: 12(1) Issue: 1 Pages: 14589-14589

    • DOI

      10.1038/s41598-022-14161-6

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-21K07810, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-18K07890, KAKENHI-PROJECT-20H00629
  • [Journal Article] The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice.2022

    • Author(s)
      Yamaguchi N, Suzuki A, Yoshida A, Tanaka T, Aoyama K, Oishi H, Hara Y, Ogi T, Amano I, Kameo S, Koibuchi N, Shibata Y, Ugawa S, Mizuno H, Saitoh S
    • Journal Title

      Sci Rep.

      Volume: 12 Issue: 1 Pages: 11259-11259

    • DOI

      10.1038/s41598-022-15151-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K11714, KAKENHI-PROJECT-20K16934, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20H00629
  • [Journal Article] Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy2022

    • Author(s)
      Sakamoto M et al, Saitoh Sは30番目
    • Journal Title

      Genetics in Medicine

      Volume: 24 Issue: 12 Pages: 2453-2463

    • DOI

      10.1016/j.gim.2022.08.007

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K17936, KAKENHI-PROJECT-23K21501, KAKENHI-PROJECT-23K24308
  • [Journal Article] Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction2022

    • Author(s)
      Fujimoto Masanori、Nakamura Yuji、Iwaki Toshihiko、Sato Emi、Ieda Daisuke、Hattori Ayako、Shiraki Anna、Mizuno Seiji、Saitoh Shinji
    • Journal Title

      Journal of Human Genetics

      Volume: 68 Issue: 2 Pages: 87-90

    • DOI

      10.1038/s10038-022-01088-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Journal Article] Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases2022

    • Author(s)
      Kato Daiki、Mitsuhashi Satomi、Miya Fuyuki、Saitoh Shinji、Okamoto Nobuhiko、Tsunoda Tatsuhiko、Kochi Yuta
    • Journal Title

      Journal of Human Genetics

      Volume: 67 Issue: 12 Pages: 739-742

    • DOI

      10.1038/s10038-022-01071-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-21K19501
  • [Journal Article] Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome2022

    • Author(s)
      Otsuji Shiomi、Nishio Yosuke、Tsujita Maki、Rio Marlene、Huber Celine、Anton-Plagaro Carlos、Mizuno Seiji、Kawano Yoshihiko、Miyatake Satoko、Simon Marleen、van Binsbergen Ellen、van Jaarsveld Richard H、Matsumoto Naomichi、Cormier-Daire Valerie、J.Cullen Peter、Saitoh Shinji、Kato Kohji
    • Journal Title

      Journal of Medical Genetics

      Volume: 60 Issue: 4 Pages: 359-367

    • DOI

      10.1136/jmg-2022-108602

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K08631, KAKENHI-PROJECT-19K23823, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20K16897, KAKENHI-PROJECT-23K14945, KAKENHI-PROJECT-23KJ1817, KAKENHI-PROJECT-23K27520
  • [Journal Article] <i>Itpr1</i> regulates the formation of anterior eye segment tissues derived from neural crest cells2021

    • Author(s)
      Kinoshita Akira、Ohyama Kaname、Tanimura Susumu、Matsuda Katsuya、Kishino Tatsuya、Negishi Yutaka、Asahina Naoko、Shiraishi Hideaki、Hosoki Kana、Tomiwa Kiyotaka、Ishihara Naoko、Mishima Hiroyuki、Mori Ryoichi、Nakashima Masahiro、Saitoh Shinji、Yoshiura Koh-ichiro
    • Journal Title

      Development

      Volume: 148 Issue: 16 Pages: 188755-188755

    • DOI

      10.1242/dev.188755

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-21H04853, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08886, KAKENHI-PROJECT-21K06069, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-20K20617
  • [Journal Article] Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant2021

    • Author(s)
      Hori Ikumi、Ieda Daisuke、Ito Shogo、Ebe Seimi、Nakamura Yuji、Ohashi Kei、Aoyama Kohei、Hattori Ayako、Kokubo Minoru、Saitoh Shinji
    • Journal Title

      Brain and Development

      Volume: 43 Issue: 4 Pages: 590-595

    • DOI

      10.1016/j.braindev.2020.12.008

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17308, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-20H03646
  • [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 Syndrome2021

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

      J Pediatr Hematol Oncol

      Volume: 43 Issue: 2 Pages: e250-e254

    • DOI

      10.1097/mph.0000000000001796

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H05700
  • [Journal Article] Temporal inversion of the acid-base equilibrium in newborns: an observational study2021

    • Author(s)
      Mizutani Yuko、Kinoshita Masahiro、Lin Yung-Chieh、Fukaya Satoko、Kato Shin、Hisano Tadashi、Hida Hideki、Iwata Sachiko、Saitoh Shinji、Iwata Osuke
    • Journal Title

      PeerJ

      Volume: 9 Pages: e11240-e11240

    • DOI

      10.7717/peerj.11240

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K15722, KAKENHI-PROJECT-18K07795, KAKENHI-PROJECT-18K07882, KAKENHI-PROJECT-18K10718, KAKENHI-PROJECT-17K18005, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20H00102, KAKENHI-PROJECT-21K07802, KAKENHI-PROJECT-21K10891
  • [Journal Article] A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders2021

    • Author(s)
      Kato Kohji、Miya Fuyuki、Oka Yasuyoshi、Mizuno Seiji、Saitoh Shinji
    • Journal Title

      Journal of Human Genetics

      Volume: 66 Issue: 5 Pages: 491-498

    • DOI

      10.1038/s10038-020-00868-9

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-18H03372, KAKENHI-PROJECT-20K16897, KAKENHI-PROJECT-19K23823
  • [Journal Article] Evidence of both foetal inflammation and hypoxia-ischaemia is associated with meconium aspiration syndrome2021

    • Author(s)
      Yokoi K, Iwata O, Kobayashi S, Kobayashi M, Saitoh S, Goto H
    • Journal Title

      Sci Rep

      Volume: 11 Issue: 1 Pages: 16799-16799

    • DOI

      10.1038/s41598-021-96275-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-20H05700
  • [Journal Article] Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability2021

    • Author(s)
      Okamoto Nobuhiko、Miya Fuyuki、Kitai Yukihiro、Tsunoda Tatsuhiko、Kato Mitsuhiro、Saitoh Shinji、Kanemura Yonehiro、Kosaki Kenjiro
    • Journal Title

      Neurological Sciences

      Volume: - Issue: 7 Pages: 2975-2978

    • DOI

      10.1007/s10072-021-05152-y

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20H03646
  • [Journal Article] SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation2021

    • Author(s)
      Negishi Yutaka、Aoki Yusuke、Itomi Kazuya、Yasuda Kazushi、Taniguchi Hiroaki、Ishida Atsushi、Arakawa Takeshi、Miyamoto Sachiko、Nakashima Mitsuko、Saitsu Hirotomo、Saitoh Shinji
    • Journal Title

      Brain and Development

      Volume: 43 Issue: 7 Pages: 804-808

    • DOI

      10.1016/j.braindev.2021.03.004

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-21K15885
  • [Journal Article] Phosphorylated proteome analysis of a novel germline ABL1 mutation causing an autosomal dominant syndrome with ventricular septal defect2021

    • Author(s)
      Yamamoto Hidenori、Hayano Satoshi、Okuno Yusuke、Onoda Atsuto、Kato Kohji、Nagai Noriko、Fukasawa Yoshie、Saitoh Shinji、Takahashi Yoshiyuki、Kato Taichi
    • Journal Title

      International Journal of Cardiology

      Volume: 326 Pages: 81-87

    • DOI

      10.1016/j.ijcard.2020.10.032

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K08319, KAKENHI-PROJECT-20K08155, KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-19K17324, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-19K17357, KAKENHI-PROJECT-20K16897, KAKENHI-PROJECT-19K23823
  • [Journal Article] A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction2021

    • Author(s)
      Aiba Kaori、Nakamura Yuji、Sugimoto Mari、Yatsuka Yukiko、Okazaki Yasushi、Murayama Kei、Ohtake Akira、Yokochi Kenji、Saitoh Shinji
    • Journal Title

      European Journal of Medical Genetics

      Volume: 64 Issue: 8 Pages: 104251-104251

    • DOI

      10.1016/j.ejmg.2021.104251

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-20H03646
  • [Journal Article] Four pedigrees with aminoacyl-tRNA synthetase abnormalities2021

    • Author(s)
      Okamoto Nobuhiko、Miya Fuyuki、Tsunoda Tatsuhiko、Kanemura Yonehiro、Saitoh Shinji、Kato Mitsuhiro、Yanagi Kumiko、Kaname Tadashi、Kosaki Kenjiro
    • Journal Title

      Neurological Sciences

      Volume: 43 Issue: 4 Pages: 2765-2774

    • DOI

      10.1007/s10072-021-05626-z

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20K09916
  • [Journal Article] Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings2021

    • Author(s)
      Ohashi K, Fukuhara S, Miyachi T, Asai T, Imaeda M, Goto M, Kurokawa Y, Anzai T, Tsurusaki Y, Miyake N, Matsumoto N, Yamagata T, Saitoh S
    • Journal Title

      J Autism Dev Disord

      Volume: なし Issue: 12 Pages: 4655-4662

    • DOI

      10.1007/s10803-021-04910-3

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-19K08258
  • [Journal Article] Utility of breakpoint‐specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome2021

    • Author(s)
      Hayakawa Kozue、Kawase Koya、Fujimoto Masanori、Nakamura Yuji、Saitoh Shinji
    • Journal Title

      Pediatrics International

      Volume: 63 Issue: 12 Pages: 1534-1536

    • DOI

      10.1111/ped.14644

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-20K16933
  • [Journal Article] Airway gas temperature within endotracheal tube can be monitored using rapid response thermometer2021

    • Author(s)
      Nakane Shigeharu、Tsuda Kennosuke、Kinoshita Masahiro、Kato Shin、Iwata Sachiko、Lin Yung-Chieh、Mizuno Mihoko、Saitoh Shinji、Iwata Osuke
    • Journal Title

      Scientific Reports

      Volume: 11 Issue: 1 Pages: 9537-9537

    • DOI

      10.1038/s41598-021-88787-3

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H00102, KAKENHI-PROJECT-18K07795, KAKENHI-PROJECT-17K18005, KAKENHI-PROJECT-18K15722, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-21K07802, KAKENHI-PROJECT-21K10891
  • [Journal Article] Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.2020

    • Author(s)
      Kato K, Okuno Y, Vasilev FF, Otomo T, Oishi H, Muramatsu H, Kawano Y, Oka Y, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S.
    • Journal Title

      Journal of Medical genetics

      Volume: 57 Issue: 4 Pages: 245-253

    • DOI

      10.1136/jmedgenet-2019-106213

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17H00783, KAKENHI-PROJECT-17H01877, KAKENHI-PROJECT-17H05088, KAKENHI-PROJECT-17K10075, KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-19K23823, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-18K19585, KAKENHI-PROJECT-20H00629
  • [Journal Article] The identification of two pathogenic variants in a family with mild and severe forms of developmental delay2020

    • Author(s)
      Miyake Noriko、Heydari Shermineh、Garshasbi Masoud、Saitoh Shinji、Nasiri Jafar、Hamanaka Kohei、Takata Atsushi、Matsumoto Naomichi、Beheshti Farnaz Hosseini、Chaleshtori Ahmad Reza Salehi
    • Journal Title

      Journal of Human Genetics

      Volume: 66 Issue: 4 Pages: 445-448

    • DOI

      10.1038/s10038-020-0809-8

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-19H03621
  • [Journal Article] Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes2020

    • Author(s)
      Ieda Daisuke、Negishi Yutaka、Miyamoto Tomomi、Johmura Yoshikazu、Kumamoto Natsuko、Kato Kohji、Miyoshi Ichiro、Nakanishi Makoto、Ugawa Shinya、Oishi Hisashi、Saitoh Shinji
    • Journal Title

      PLOS ONE

      Volume: 15 Issue: 8 Pages: e0237814-e0237814

    • DOI

      10.1371/journal.pone.0237814

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K21497, KAKENHI-PROJECT-20K21583, KAKENHI-ORGANIZER-19H05739, KAKENHI-PLANNED-19H05740, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-18K15682
  • [Journal Article] De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes2020

    • Author(s)
      Kondo Yuto、Aoyama Kohei、Suzuki Hisato、Hattori Ayako、Hori Ikumi、Ito Koichi、Yoshida Aya、Koroki Mari、Ueda Kentaro、Kosaki Kenjiro、Saitoh Shinji
    • Journal Title

      Human Genome Variation

      Volume: 7 Issue: 1 Pages: 19-19

    • DOI

      10.1038/s41439-020-0107-1

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K17308, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20H03646
  • [Journal Article] Genome-wide methylation analysis in Silver?Russell syndrome, Temple syndrome, and Prader?Willi syndrome2020

    • Author(s)
      Hara-Isono Kaori、Matsubara Keiko、Fuke Tomoko、Yamazawa Kazuki、Satou Kazuhito、Murakami Nobuyuki、Saitoh Shinji、Nakabayashi Kazuhiko、Hata Kenichiro、Ogata Tsutomu、Fukami Maki、Kagami Masayo
    • Journal Title

      Clinical Epigenetics

      Volume: 12 Issue: 1 Pages: 159-159

    • DOI

      10.1186/s13148-020-00949-8

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-20H00539, KAKENHI-PROJECT-19H03628
  • [Journal Article] MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome2019

    • Author(s)
      Kato Kohji、Miya Fuyuki、Hamada Nanako、Negishi Yutaka、Narumi-Kishimoto Yoko、Ozawa Hiroshi、Ito Hidenori、Hori Ikumi、Hattori Ayako、Okamoto Nobuhiko、Kato Mitsuhiro、Tsunoda Tatsuhiko、Kanemura Yonehiro、Kosaki Kenjiro、Takahashi Yoshiyuki、Nagata Koh-ichi、Saitoh Shinji
    • Journal Title

      Journal of Medical Genetics

      Volume: 印刷中 Issue: 6 Pages: 388-395

    • DOI

      10.1136/jmedgenet-2018-105487

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16K08264, KAKENHI-PROJECT-18K19524, KAKENHI-PROJECT-18H02690, KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-19K07059
  • [Journal Article] A novel CUL4B splice site variant in a young male exhibiting less pronounced features2019

    • Author(s)
      Nakamura Yuji、Okuno Yusuke、Muramatsu Hideki、Kawai Tomoko、Satou Kazuhito、Ieda Daisuke、Hori Ikumi、Ohashi Kei、Negishi Yutaka、Hattori Ayako、Takahashi Yoshiyuki、Kojima Seiji、Saitoh Shinji
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 43-43

    • DOI

      10.1038/s41439-019-0074-6

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K19524
  • [Journal Article] Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy2019

    • Author(s)
      Negishi Yutaka、Ieda Daisuke、Hori Ikumi、Nozaki Yasuyuki、Yamagata Takanori、Komaki Hirofumi、Tohyama Jun、Nagasaki Keisuke、Tada Hiroko、Saitoh Shinji
    • Journal Title

      Orphanet Journal of Rare Diseases

      Volume: 14 Issue: 1 Pages: 277-277

    • DOI

      10.1186/s13023-019-1249-4

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K08258, KAKENHI-PROJECT-18K15682, KAKENHI-PROJECT-18K19524
  • [Journal Article] A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome2019

    • Author(s)
      Ieda Daisuke、Hori Ikumi、Nakamura Yuji、Ohashi Kei、Negishi Yutaka、Hattori Ayako、Arisaka Atsuko、Hasegawa Setsuko、Saitoh Shinji
    • Journal Title

      Human Genome Variation

      Volume: 6 Issue: 1 Pages: 15-15

    • DOI

      10.1038/s41439-019-0046-x

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-18K19524
  • [Journal Article] Transition from Leigh syndrome to MELAS syndrome in a patient with heteroplasmic MT-ND3 m.10158T>C2019

    • Author(s)
      Kori Atsuko、Hori Ikumi、Tanaka Tatsushi、Aoyama Kohei、Ito Koichi、Hattori Ayako、Ban Kyoko、Okazaki Yasushi、Murayama Kei、Saitoh Shinji
    • Journal Title

      Brain and Development

      Volume: 41 Issue: 9 Pages: 803-807

    • DOI

      10.1016/j.braindev.2019.05.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19H03624, KAKENHI-PROJECT-18K19524
  • [Journal Article] Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease2019

    • Author(s)
      Nakamura Yuji、Kato Kohji、Tsuchida Naomi、Matsumoto Naomichi、Takahashi Yoshiyuki、Saitoh Shinji
    • Journal Title

      PLOS ONE

      Volume: 14 Issue: 8 Pages: e0221482-e0221482

    • DOI

      10.1371/journal.pone.0221482

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-18K19524
  • [Journal Article] Antiviral therapy for hepatitis B virus during second pregnancies2018

    • Author(s)
      Wakano Y, Sugiura T, Endo T, Ito K, Suzuki M, Tajiri H, Tanaka Y, Saitoh S.
    • Journal Title

      J Obstet Gynaecol Res

      Volume: 44 Issue: 3 Pages: 566-569

    • DOI

      10.1111/jog.13540

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K10070, KAKENHI-PROJECT-17K11516
  • [Journal Article] Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood2018

    • Author(s)
      Kato Kohji、Mizuno Seiji、Inaba Mie、Fukumura Shinobu、Kurahashi Naoko、Maruyama Koichi、Ieda Daisuke、Ohashi Kei、Hori Ikumi、Negishi Yutaka、Hattori Ayako、Saitoh Shinji
    • Journal Title

      Brain and Development

      Volume: 40 Issue: 8 Pages: 678-684

    • DOI

      10.1016/j.braindev.2018.04.008

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-18K19524
  • [Journal Article] Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan.2018

    • Author(s)
      Togawa T, Tatsuki Mizuochi, Tokio Sugiura, Hironori Kusano, Ken Tanikawa, Takato Sasaki, Fumio Ichinose, Seiichi Kagimoto, Takahisa Tainaka, Hiroo Uchida, Shinji Saitoh
    • Journal Title

      The Journal of Pediatrics

      Volume: - Pages: 161-167

    • DOI

      10.1016/j.jpeds.2017.12.058

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-17K10148, KAKENHI-PROJECT-16K19096, KAKENHI-PROJECT-17K11516
  • [Journal Article] IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis2018

    • Author(s)
      Shigemizu Daichi、Miya Fuyuki、Akiyama Shintaro、Okuda Shujiro、Boroevich Keith A、Fujimoto Akihiro、Nakagawa Hidewaki、Ozaki Kouichi、Niida Shumpei、Kanemura Yonehiro、Okamoto Nobuhiko、Saitoh Shinji、Kato Mitsuhiro、Yamasaki Mami、Matsunaga Tatsuo、Mutai Hideki、Kosaki Kenjiro、Tsunoda Tatsuhiko
    • Journal Title

      Scientific Reports

      Volume: 8 Issue: 1 Pages: 5608-5608

    • DOI

      10.1038/s41598-018-23978-z

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15530, KAKENHI-PROJECT-16K19068, KAKENHI-PROJECT-18K09336, KAKENHI-PLANNED-18H05511, KAKENHI-PROJECT-16H04726, KAKENHI-PROJECT-18H02680, KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-16H06299
  • [Journal Article] CTCF deletion syndrome: Clinical features and epigenetic delineation2017

    • Author(s)
      Hori I, Kawamura R, Nakabayashi K, Watanabe H, Higashimoto K, Tomikawa J, Ieda D, Ohashi K, Negishi Y, Hattori A, Sugio Y, Wakui K, Hata K, Soejima H, Kurosawa K, Saitoh S
    • Journal Title

      Journal of Medical Genetics

      Volume: 54 Issue: 12 Pages: 836-842

    • DOI

      10.1136/jmedgenet-2017-104854

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-17K07248, KAKENHI-PROJECT-17K08687, KAKENHI-PROJECT-26293365, KAKENHI-PROJECT-15K08330
  • [Journal Article] A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate2017

    • Author(s)
      Kato Koji、Miya Fuyuki、Hori Ikumi、Ieda Daisuke、Ohashi Kei、Negishi Yutaka、Hattori Ayako、Okamoto Nobuhiko、Kato Mitsuhiro、Tsunoda Tatsuhiko、Yamasaki Mami、Kanemura Yonehiro、Kosaki Kenjiro、Saitoh Shinji
    • Journal Title

      Journal of Human Genetics

      Volume: 62 Issue: 9 Pages: 861-863

    • DOI

      10.1038/jhg.2017.53

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-16K15530
  • [Journal Article] Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism2017

    • Author(s)
      Aoyama Kohei、Mizuno Haruo、Tanaka Tatsushi、Togawa Takao、Negishi Yutaka、Ohashi Kei、Hori Ikumi、Izawa Masako、Hamajima Takashi、Saitoh Shinji
    • Journal Title

      Journal of Pediatric Endocrinology and Metabolism

      Volume: 30 Issue: 10 Pages: 1111-1118

    • DOI

      10.1515/jpem-2017-0035

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09627
  • [Journal Article] A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.2017

    • Author(s)
      Negishi Y, Miya F, Hattori A, Johmura Y, Nakagawa M, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Nakanishi M, Saitoh S.
    • Journal Title

      BMC Med Genet.

      Volume: 18 Issue: 1 Pages: 4-4

    • DOI

      10.1186/s12881-016-0363-6

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16H06148, KAKENHI-PROJECT-16K07211, KAKENHI-PROJECT-16K15238, KAKENHI-PROJECT-16K15530, KAKENHI-PROJECT-26250027, KAKENHI-PROJECT-16K15239, KAKENHI-PROJECT-17H01398
  • [Journal Article] Effects of 4-phenylbutyrate therapy in a preterm infant with cholestasis and liver fibrosis2016

    • Author(s)
      Ito S, Hayashi H, Sugiura T, Ito K, Ueda H, Togawa T, Endo T, Tanikawa K, Kage M, Kusuhara H, Saitoh S.
    • Journal Title

      Pediatr Int.

      Volume: Feb 4 Issue: 6 Pages: 506-509

    • DOI

      10.1111/ped.12839

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25461625, KAKENHI-PROJECT-26460192, KAKENHI-PROJECT-26870489, KAKENHI-PROJECT-16K10070
  • [Journal Article] Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing2016

    • Author(s)
      Togawa T, Sugiura T, Ito K, Endo T, Aoyama K, Ohashi K, Negishi Y, Kudo T, Ito R, Kikuchi A, Arai-Ichinoi N, Kure S, Saitoh S.
    • Journal Title

      J Pediatr.

      Volume: 171 Pages: 171-177

    • DOI

      10.1016/j.jpeds.2016.01.006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25461625, KAKENHI-PROJECT-26870489, KAKENHI-PROJECT-16K10070
  • [Journal Article] Single nucleotide polymorphisms in AGTR1, TFAP2B, and TRAF1 are not associated with the incidence of patent ductus arteriosus in Japanese preterm infants.2016

    • Author(s)
      Kawase K, Sugiura T, Nagaya Y, Yamada T, Sugimoto M, Ito K, Togawa T, Nagasaki R, Kato T, Kouwaki M, Koyama N, Saitoh S.
    • Journal Title

      Pediatr Int.

      Volume: Nov 30 Issue: 6 Pages: 461-466

    • DOI

      10.1111/ped.12861

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-25461625, KAKENHI-PROJECT-26870489, KAKENHI-PROJECT-16K10070
  • [Journal Article] 高ウイルス量妊婦へのテノホビル投与によるB型肝炎ウイルス母子感染予防2016

    • Author(s)
      大江 雅美子, 杉浦 時雄, 遠藤 剛, 伊藤 孝一, 齋藤 伸治
    • Journal Title

      日本周産期・新生児医学会雑誌

      Volume: 52 Pages: 165-168

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K10070
  • [Journal Article] B型肝炎ウイルス母子感染予防の新方式は周知されているか?2016

    • Author(s)
      河嵜 翔太, 杉浦 時雄, 遠藤 剛, 伊藤 孝一, 加藤 丈典, 齋藤 伸治
    • Journal Title

      日本周産期・新生児医学会雑誌

      Volume: 52 Pages: 874-878

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-16K10070
  • [Journal Article] Magnetoencephalography localizing spike sources of atypical benign partial epilepsy2014

    • Author(s)
      Shiraishi H, Haginoya K, Nakagawa E,Saitoh S, Kaneko Y, Nakasato N, Chan D, Otsubo H
    • Journal Title

      Brain Dev

      Volume: 36 Issue: 1 Pages: 21-27

    • DOI

      10.1016/j.braindev.2012.12.011

    • NAID

      120005397862

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591488, KAKENHI-PROJECT-25670291, KAKENHI-PROJECT-26461540
  • [Journal Article] Successful treatment of male congenital hypogonadotropic hypogonadism with rFSH pretreatment followed by GnRH2014

    • Author(s)
      Mizuno H, Aoyama K, Saitoh S.
    • Journal Title

      Horm Res Paediatr

      Volume: 82 (suppl 1) Pages: 159-160

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24591520
  • [Journal Article] Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization2012

    • Author(s)
      Kawamura, R., Tanabe, H., Wada, T., Saitoh, S., Fukushima, Y., Wakui, K.
    • Journal Title

      Chromosome Res.

      Volume: 20

    • NAID

      120006576054

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24659156
  • [Journal Article] Childhood-onset anti-MuSK antibody positive myasthenia gravis demonstrates a distinct clinical course.2012

    • Author(s)
      Takahashi Y, Sugiyama M, Ueda Y, Itoh T, Yagyu K, Shiraishi H, Ukeba-Terashita Y, Nakanishi M, Nagashima T, Imai T, Motomura M, Saitoh S.
    • Journal Title

      Brain & development

      Volume: 34 Issue: 9 Pages: 784-786

    • DOI

      10.1016/j.braindev.2011.12.014

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591488
  • [Journal Article] Magnetoencephalographic analysis of paroxysmal fast activity in patients with epileptic spasms.2012

    • Author(s)
      Sueda K, Takeuchi F, Shiraishi H, Nakane S, Sakurai K, Yagyu K, Asahina N, Kohsaka S, Saitoh S.
    • Journal Title

      Epilepsy Research.

      Volume: 104 Issue: 1-2 Pages: 68-77

    • DOI

      10.1016/j.eplepsyres.2012.09.001

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591488, KAKENHI-PROJECT-23659341
  • [Journal Article] A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity.2012

    • Author(s)
      Tsurusaki Y, Saitoh S, Tomizawa K, Sudo A, Asahina N, Shiraishi H, Ito J, Tanaka H, Doi H, Saitsu H, Miyake N, Matsumoto N.
    • Journal Title

      Neurogenetics.

      Volume: 13 Issue: 4 Pages: 327-332

    • DOI

      10.1007/s10048-012-0337-6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591488, KAKENHI-PROJECT-23659341, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24790893, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007
  • [Journal Article] Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.2012

    • Author(s)
      Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K.
    • Journal Title

      Chromosome Res.

      Volume: 20 Issue: 6 Pages: 659-672

    • DOI

      10.1007/s10577-012-9300-5

    • NAID

      120006576054

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-24659156, KAKENHI-PUBLICLY-23125505
  • [Journal Article] West Syndrome Associated with Mosaic Duplication of FOXG1 in a Patient with Maternal Uniparental Disomy of Chromosome 142011

    • Author(s)
      Tohyama J, Yamamoto T, Hosoki K, Nagasaki K, Akasaka N, Ohashi T, Kobayashi Y, Saitoh S
    • Journal Title

      Am J Med Genet Part A

      Volume: 155 Issue: 10 Pages: 2584-2588

    • DOI

      10.1002/ajmg.a.34224

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-11J04823, KAKENHI-PROJECT-21591306, KAKENHI-PROJECT-21591334, KAKENHI-PUBLICLY-23110534
  • [Journal Article] Comparison of three methods for localizing interictal epileptiform discharges with magnetoencephalography2011

    • Author(s)
      Shiraishi H, Ahlfors SP, Stufflebeam SM, Knake S, Larsson PG, Hamalainen MS, Takano K, Okajima M, Hatanaka K, Saitoh S, Dale AM, Halgren E
    • Journal Title

      J Clin Neurophysiol

      Volume: 28 Issue: 5 Pages: 431-40

    • DOI

      10.1097/wnp.0b013e318231c86f

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591306, KAKENHI-PROJECT-22249021, KAKENHI-PROJECT-23591488
  • [Journal Article] A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome2011

    • Author(s)
      Takahashi Y, Hosoki K, Matsushita M, Funatsuka M, Saito K, Kanazawa H, Goto Y-i, Saitoh S
    • Journal Title

      Am J Med Genet Part B : Neuropsychiatric Genetics

      Volume: 156 Issue: 7 Pages: 799-807

    • DOI

      10.1002/ajmg.b.31221

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-11J04823, KAKENHI-PROJECT-21591306
  • [Journal Article] Direct correlation between the facial nerve nucleus and hemi-facial seizures associated with a gangliocytoma of the floor of the fourth ventricle : a case report2011

    • Author(s)
      Yagyu K, Sueda K, Shiraishi H, Asahina N, Sakurai K, Kohsaka S, Sawamura Y, Saitoh S
    • Journal Title

      Epilepsia

      Volume: 52 Issue: 12 Pages: 204-6

    • DOI

      10.1111/j.1528-1167.2011.03299.x

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591306, KAKENHI-PROJECT-23591488
  • [Journal Article] Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies2011

    • Author(s)
      Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J
    • Journal Title

      J Hum Genet

      Volume: 56 Issue: 2 Pages: 110-124

    • DOI

      10.1038/jhg.2010.129

    • Data Source
      KAKENHI-PROJECT-21591306, KAKENHI-PROJECT-23791155
  • [Journal Article] The applications of time-frequency analyses to ictal magnetoencephalography in neocortical epilepsy2010

    • Author(s)
      Yagyu K, Takeuchi F, Shiraishi H, Nakane S, Sueda K, Asahina N, Kohsaka S, Umeoka S, Usui N, Baba K, Saitoh S
    • Journal Title

      Epilepsy Res

      Volume: 90 Issue: 3 Pages: 199-206

    • DOI

      10.1016/j.eplepsyres.2010.05.001

    • NAID

      120002383268

    • Data Source
      KAKENHI-PROJECT-21591306
  • [Journal Article] Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay2010

    • Author(s)
      Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai SI, Ogata K, Kato M, Fukuda A, Matsumoto N
    • Journal Title

      Am J Hum Genet

      Volume: 86 Issue: 6 Pages: 881-891

    • DOI

      10.1016/j.ajhg.2010.04.013

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591306, KAKENHI-PROJECT-22689011
  • [Journal Article] Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype2010

    • Author(s)
      Yamazawa K, Nakabayashi K, Kagami M, Sato T, Saitoh S, Horikawa R, Hizuka N, Ogata T
    • Journal Title

      J Med Genet

      Volume: 47 Issue: 11 Pages: 782-785

    • DOI

      10.1136/jmg.2010.079343

    • Data Source
      KAKENHI-PROJECT-21591306
  • [Journal Article] MEG time-frequency analyses for pre and post surgical evaluation of patients with epileptic rhythmic fast activity2010

    • Author(s)
      Sueda K, Takeuchi F, Shiraishi H, Nakane S, Asahina N, Kohsaka S, Nakama H, Otsuki T, Sawamura Y, Saitoh S
    • Journal Title

      Epilepsy Res

      Volume: 88 Issue: 2-3 Pages: 100-107

    • DOI

      10.1016/j.eplepsyres.2009.10.002

    • NAID

      120002015023

    • Data Source
      KAKENHI-PROJECT-21591306
  • [Journal Article] Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype2009

    • Author(s)
      Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S
    • Journal Title

      J Pediatr

      Volume: 155 Issue: 6 Pages: 900-903

    • DOI

      10.1016/j.jpeds.2009.06.045

    • Data Source
      KAKENHI-PROJECT-21591306
  • [Journal Article] Aberrant Somatosensory Evoked Responses Imply GABAergic Dysfunction in Angelman Syndrome.2008

    • Author(s)
      Egawa K, Asahina N, Shiraishi H, Kamada K, Takeuchi F, Nakane S, Sudo A, Kohsaka S, Saitoh S.
    • Journal Title

      Neuroimage 39

      Pages: 593-599

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591136
  • [Journal Article] Magnetoencephalographic analysis for rhythmic epileptiform discharges in a patient with symptomatic localization related epilepsy.2007

    • Author(s)
      Shiraishi H, Takeuchi F, Egawa K, Sueda K, Asahina N, Kohsaka S, Nakane S, Saitoh S.
    • Journal Title

      Hokkaido Epilepsy Research 26

      Pages: 31-36

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591136
  • [Journal Article] Possible involvement of the tip of temporal lobe in Landau-Kleffner syndrome.2007

    • Author(s)
      Shiraishi H, Takano K, Shiga T, Okajima M, Sudo A, Asahina N, Kohsaka S, Fukuhara M, Saitoh S.
    • Journal Title

      Brain Dev 29

      Pages: 529-33

    • NAID

      10024136841

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591136
  • [Journal Article] Long-term sequential magnetoencephalographic analyses for patients with atypical benign partial epilepsy in childhood.2007

    • Author(s)
      Shiraishi H, Egawa K, Asahina N, Nakane S, Udo Y, Satake A, Kohsaka S, Saitoh S.
    • Journal Title

      International Congress Series 1300

      Pages: 689-692

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591136
  • [Journal Article] Graded magnetoencephalographic analysis for patients with epilepsy. -For the global application for every patient with epilepsy-2007

    • Author(s)
      Shiraishi H, Takeuchi F, Egawa K, Sueda K, Asahina N, Kohsaka S, Nakane S, Saitoh S.
    • Journal Title

      Progress in Computed Imaging 29

      Pages: 43-49

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18591136
  • [Journal Article] An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP2006

    • Author(s)
      Asahina N, Okamoto T, Sudo A, Kanazawa N, Tsujino S, Saitoh S
    • Journal Title

      Brain & Development 28

      Pages: 131-133

    • NAID

      10017319647

    • Data Source
      KAKENHI-PROJECT-17659307
  • [Journal Article] Disorders of genomic imprinting (Prader- Willi/Angelman syndrome)2005

    • Author(s)
      Saitoh S
    • Journal Title

      Igaku-no-ayumi (in Japanese) 215

      Pages: 124-127

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-17591064
  • [Journal Article] 親由来遺伝子発現パターン異常症(Prader-Willi/Angelman症候群)2005

    • Author(s)
      斉藤伸治
    • Journal Title

      医学のあゆみ 215

      Pages: 124-127

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-17591064
  • [Journal Article] Uiparental disomy and imprinting defects in Japanese patients with Angelman syndrome.2005

    • Author(s)
      Saitoh S, Wada T, Okajima M, Takano K, Sudo A, Niikawa N.
    • Journal Title

      Brain Dev 27

      Pages: 389-391

    • Data Source
      KAKENHI-PROJECT-17659307
  • [Journal Article] A Woman with a phenotype of X-Linked a-Thalassemia/ Mental Retardation syndrome (ATR-X) and dup(16p13.11 and 13.3)2005

    • Author(s)
      Akahoshi K, Hattori Y, Ohashi H, Saitoh S, Fukushima Y, Wada T
    • Journal Title

      Am J Med Genet 132A

      Pages: 414-418

    • Data Source
      KAKENHI-PROJECT-17591064
  • [Journal Article] Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome.2005

    • Author(s)
      Saitoh S et al.
    • Journal Title

      Brain Dev 27

      Pages: 389-391

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-17591064
  • [Journal Article] 主要な先天異常症候群のメディカルマネージメント:Prader-Willi症候群2005

    • Author(s)
      斉藤伸治
    • Journal Title

      小児内科 37

      Pages: 1369-1373

    • Data Source
      KAKENHI-PROJECT-17591064
  • [Journal Article] Analysis of DNA methylation2005

    • Author(s)
      Saitoh S
    • Journal Title

      Nippon Rinsho (in Japanese) 63 supp 12

      Pages: 176-180

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-17591064
  • [Journal Article] DNAメチル化解析2005

    • Author(s)
      斉藤伸治
    • Journal Title

      日本臨床 遺伝子診療学 -遺伝子診断の進歩と遺伝子治療の展望- 63巻増刊号12

      Pages: 176-180

    • Data Source
      KAKENHI-PROJECT-17591064
  • [Journal Article] Germline mosaicism of a novel mutation of UBE3A in Angelman syndrome.2005

    • Author(s)
      Hosoki K, Takano K, Sudo A, Tanaka S, Saitoh S
    • Journal Title

      Am J Med Genet 138A

      Pages: 187-189

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-17591064
  • [Journal Article] Germline mosaicism of a novel UBE3A mutation in Angelman syndrome.2005

    • Author(s)
      Hosoki K, Takano K, Sudo A, Tanaka S, Saitoh S.
    • Journal Title

      Am J Med Genet 138A

      Pages: 187-189

    • Data Source
      KAKENHI-PROJECT-17659307
  • [Journal Article] DNAメチル化解析2005

    • Author(s)
      斉藤伸治
    • Journal Title

      日本臨床 遺伝子診療学-遺伝子診断の進歩と遺伝子治療の展望- 63巻増刊号12

      Pages: 176-180

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-17591064
  • [Journal Article] Clinical Phenotype and Candidate Genes for the 5q31.3 Microdeletion Syndrome

    • Author(s)
      Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S
    • Journal Title

      Am J Med Genet A

      Volume: (in press)

    • Data Source
      KAKENHI-PROJECT-21591306
  • [Journal Article] Hand-foot-genital syndrome with a 7p15 deletion demonstrates a clinically recognizable syndrome

    • Author(s)
      Hosoki K, Ohta T, Fujita K, Nishigaki S, Shiomi M, Niikawa N, Saitoh S
    • Journal Title

      Pediatr Int

      Volume: (in press)

    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] Blood flow regulates neuronal migration in the adult olfactory bulb2024

    • Author(s)
      荻野崇、斎藤明里、澤田雅人、竹村晶子、長瀬次郎、河瀬穂乃美、稲田浩之、Vicente Herranz-Perez、向山洋介、依馬正次、Jose Manuel Garcia-Verdugo、鍋倉淳一 、澤本和延
    • Organizer
      第17回神経発生討論会・第20回成体脳のニューロン新生懇談会合同大会
    • Data Source
      KAKENHI-PROJECT-20H05700
  • [Presentation] Gain-of-function MYCN causes a megalencephaly- polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.2023

    • Author(s)
      Nishio Y, Kato K, Mau-Them Frederic T, Futagawa H, Quelin C, Masuda S, Vitobello A, Otsuji S, Shawki HH, Oishi H, Thauvin-Robinet C, Takenouchi T, Kosaki K, Takahashi Y, Saitoh S.
    • Organizer
      American Society of Human Genetics 2023 meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] Gain-of-function MYCN causes a megalencephaly- polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.2023

    • Author(s)
      Nishio Y, Kato K, Mau-Them Frederic T, Futagawa H, Quelin C, Masuda S, Vitobello A, Otsuji S, Shawki HH, Oishi H, Thauvin-Robinet C, Takenouchi T, Kosaki K, Takahashi Y, Saitoh S.
    • Organizer
      Asian Society of Pediatric Research 2023 meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] Angelman syndrome with mosaic paternal uniparental disomy caused by mitotic nondisjunction.2022

    • Author(s)
      Fujimoto M, Nakamura Y, Iwaki T, Sato E, Ieda D, Hattori A, Shiraki A, Mizuho S, Saitoh S.
    • Organizer
      American Society of Human Genetics Annual Meeting 2022
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.2022

    • Author(s)
      Otsuji S, Nishio Y, Tsujita M, Rio M, Huber C, Anton-Plagaro C, Mizuno S, Kawano Y, Miyatake S, Simon M, van Binsbergen E, van Jaarsveld RH, Matsumoto N, Cormier-Daire V, J Cullen P, Saitoh S, Kato K
    • Organizer
      American Society of Human Genetics Annual Meeting 2022
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] Biallelic variants in PNPLA8 disrupt cortical gyrification through aberrant mitochondrial dynamics.2022

    • Author(s)
      Nakamura Y, Shimada IS, Fujimoto M, Sato E, Ieda D, Hattori A, Miya F, Tsunoda T, Okubo Y, Haginoya K, Koshimizu E, Miyatake S, Matsumoto N, Arioka Y, Ozaki N, Kato Y, Saitoh S.
    • Organizer
      第64回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] 成体脳内を移動する新生ニューロンにおける一次繊毛の時空間的制御2021

    • Author(s)
      松本真実、澤田雅人、Diego Garcia-Gonzalez、Vicente Herranz-Perez、荻野崇、Huy Bang Nguyen、Truc Quynh Thai、成田啓之、熊本奈都子、鵜川眞也、斎藤祐見子、竹田扇、金子奈穂子、Konstantin Khodosevich、Hannah Monyer、Jose Manuel Garcia-Verdugo、大野伸彦、澤本和延
    • Organizer
      第165回名古屋市立大学医学会例会
    • Data Source
      KAKENHI-PROJECT-20H05700
  • [Presentation] MYCN gain-of-function variants induce excess proliferation of neurons and cause a novel megalencephaly syndrome.2021

    • Author(s)
      Yosuke Nishio, Kohji Kato, Tran Mau-Them Frederic, Shiomi Otsuji, Chloe Quelin, Hisashi Oishi, Yoshiyuki Takahashi, Shinji Saitoh
    • Organizer
      American Society of Human Genetics Virtual Meeting 2021
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Scinzel-like syndrome: Description of two novel cases confirming the pathogenicity and clinical diversity.2021

    • Author(s)
      Otsuji S, Kato K, Lequesne CH, Mizuno S, Rio M, Miyatake S, Nishio Y, Matsumoto N, Cormier-Daire V, Saitoh S
    • Organizer
      American Society of Human Genetics Virtual Meeting 2021
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20K21583
  • [Presentation] PNPLA8 deficiency induces microcephaly and reduces neurogenesis in a brain organoid model.2021

    • Author(s)
      Nakamura Y, Shimada I, Fujimoto M, Sato E, Ieda D, Hattori A, Miya F, Tsunoda T, Okubo Y, Haginoya K, Koshimizu E, Miyatake S, Matsumoto N, Arioka Y, Ozaki N, Kato Y, Saitoh S
    • Organizer
      第63回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] NAA15遺伝子の変異に伴う重度知的発達症ならびに自閉スペクトラム症の男児の一例.2021

    • Author(s)
      大橋圭、川岡奈緒実、谷合弘子、三宅紀子、松本直通、齋藤伸治
    • Organizer
      第63回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-20K21583
  • [Presentation] VPS35L pathogenic variants cause 3C/Ritscher-Scinzel-like syndrome: Description of two novel cases confirming the pathogenicity and clinical diversity.2021

    • Author(s)
      Otsuji S, Kato K, Lequesne CH, Mizuno S, Rio M, Miyatake S, Nishio Y, Matsumoto N, Cormier-Daire V, Saitoh
    • Organizer
      American Society of Human Genetics Virtual Meeting 2021
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] ミトコンドリアホスホリパーゼPNPLA8機能喪失は神経系細胞においてミトコンドリアダイナミクス異 常を引き起こす.2021

    • Author(s)
      中村勇治、嶋田逸誠、加藤洋一、齋藤伸治
    • Organizer
      第66回日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-20K21583
  • [Presentation] NAA15遺伝子の変異に伴う重度知的発達症ならびに自閉スペクトラム症の男児の一例.2021

    • Author(s)
      大橋圭、川岡奈緒実、谷合弘子、三宅紀子、松本直通、齋藤伸治
    • Organizer
      第63回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] ミトコンドリアホスホリパーゼPNPLA8機能喪失は神経系細胞においてミトコンドリアダイナミクス異 常を引き起こす.2021

    • Author(s)
      中村勇治、嶋田逸誠、加藤洋一、齋藤伸治
    • Organizer
      第66回日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] Mild Phenotypic features associated with non-truncating UBE3A mutations in Angelman syndrome2020

    • Author(s)
      Nakamura Y, Hosoki K, Ieda D, Hori I, Negishi Y, Hattori A, Saitoh S
    • Organizer
      第62回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-20H05700
  • [Presentation] Mild Phenotypic features associated with non-truncating UBE3A mutations in Angelman syndrome.2020

    • Author(s)
      Yuji Nakamura, Kana Hosoki, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Ayako Hattori, Shinji Saitoh
    • Organizer
      第62回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-20K21583
  • [Presentation] A novel case with biallelic VPS35L variants confirms VPS35L as a causative gene of 3C/Ritscher-Schinzel-like syndrome.2020

    • Author(s)
      Shiomi Otsuji, Kohji Kato, Seiji Mizuno, Satoko Miyatake, Naomichi Matsumoto, Shinji Saitoh
    • Organizer
      第65回人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] 当院でエキソーム解析を実施した小児神経疾患症例の臨床的検討2020

    • Author(s)
      堀いくみ, 宮冬樹, 中島光子, 中村勇治, 家田大輔, 大橋圭, 根岸豊, 服部文子, 安藤直樹, 角田達彦, 才津浩智, 金村米博, 小崎健次郎, 齋藤伸治
    • Organizer
      第62回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-20H05700
  • [Presentation] A novel case with biallelic VPS35L variants confirms VPS35L as a causative gene of 3C/Ritscher-Schinzel-like syndrome2020

    • Author(s)
      Otsuji S, Kato K, Mizuno S, Miyatake S, Matsumoto N, Saitoh S
    • Organizer
      第65回人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-20H05700
  • [Presentation] 当院でエキソーム解析を実施した小児神経疾患症例の臨床的検討.2020

    • Author(s)
      堀いくみ, 宮冬樹, 中島光子, 中村勇治, 家田大輔, 大橋圭, 根岸豊, 服部文子, 安藤直樹, 角田達彦, 才津浩智, 金村米博, 小崎健次郎, 齋藤伸治
    • Organizer
      第62回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] A novel case with biallelic VPS35L variants confirms VPS35L as a causative gene of 3C/Ritscher-Schinzel-like syndrome.2020

    • Author(s)
      Shiomi Otsuji, Kohji Kato, Seiji Mizuno, Satoko Miyatake, Naomichi Matsumoto, Shinji Saitoh
    • Organizer
      第65回人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-20K21583
  • [Presentation] Mild Phenotypic features associated with non-truncating UBE3A mutations in Angelman syndrome.2020

    • Author(s)
      Yuji Nakamura, Kana Hosoki, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Ayako Hattori, Shinji Saitoh
    • Organizer
      第62回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-20H03646
  • [Presentation] 当院でエキソーム解析を実施した小児神経疾患症例の臨床的検討2020

    • Author(s)
      堀いくみ, 宮冬樹, 中島光子, 中村勇治, 家田大輔, 大橋圭, 根岸豊, 服部文子, 安藤直樹, 角田達彦, 才津浩智, 金村米博, 小崎健次郎, 齋藤伸治
    • Organizer
      第62回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-20K21583
  • [Presentation] Decreased postnatal neurogenesis in a mouse model of preterm birth2020

    • Author(s)
      Gokenya S, Kawase K, Ito A, Sawada M, Iwata O, Saitoh S, Sawamoto K
    • Organizer
      第63回 日本神経化学会大会
    • Data Source
      KAKENHI-PROJECT-20H05700
  • [Presentation] Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease.2019

    • Author(s)
      Nakamura Y, Kato K, Tsuchida N, Matsumoto N, Takahashi Y, Saitoh S
    • Organizer
      69th American Society of Human Genetics Annual Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K19524
  • [Presentation] Altered mTOR signaling in patients with SZT2-related neurological disease.2019

    • Author(s)
      Nakamura Y, Tsuchida N, Kato K, Ieda D, Hori I, Hattori A, Matsumoto N, Saitoh S
    • Organizer
      第61回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K19524
  • [Presentation] Clinical, genetic, and biochemical analyses for PI3K-AKT-mTOR pathway-associated megalencephaly.2019

    • Author(s)
      Hori I, Miya F, Nakamura Y, Ieda D, Negishi Y, Hattori A, Tsunoda T, Kanemura Y, Kosaki K, Saitoh S
    • Organizer
      第61回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-18K19524
  • [Presentation] Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.2019

    • Author(s)
      Kato K, Oka Y, Muramatsu H, Vasilev F, Otomo T, Oishi H, Kawano Y, Nakazawa Y, Ogi T, Takahashi Y, Saitoh S
    • Organizer
      Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K19524
  • [Presentation] 視床下部過誤腫による思春期早発症5例の多様な臨床像2018

    • Author(s)
      青山幸平, 田中達之, 鈴木敦詞, 齋藤伸治, 水野晴夫
    • Organizer
      第272回日本小児科学会東海地方会
    • Data Source
      KAKENHI-PROJECT-15K09627
  • [Presentation] 高ウイルス量妊婦への核酸アナログ投与によるB型肝炎ウイルス母子感染予防2018

    • Author(s)
      杉浦時雄、伊藤孝一、齋藤伸治、田中靖人、他
    • Organizer
      第272回日本小児科学会東海地方会
    • Data Source
      KAKENHI-PROJECT-16K10070
  • [Presentation] PI3K-AKT-mTOR経路が関連する巨脳症2018

    • Author(s)
      齋藤伸治
    • Organizer
      第60回日本小児神経学会
    • Invited
    • Data Source
      KAKENHI-PROJECT-18K19524
  • [Presentation] MYCNの新生機能獲得型変異は新規の巨脳症症候群の原因となる Authors2018

    • Author(s)
      加藤耕治、宮冬樹、浜田奈菜子、根岸豊、岸本洋子、小沢弘、伊藤英則、堀いくみ、服部文子、岡本信彦、加藤光広、角田達彦、金村米博、小崎健次郎、高橋義行、永田浩一、齋藤伸治
    • Organizer
      第63回日本人類遺伝学会
    • Data Source
      KAKENHI-PROJECT-18K19524
  • [Presentation] A de novo gain-of-function mutation in MYCN causes a novel megalencephaly syndrome2018

    • Author(s)
      Kohji Kato1,2, Fuyuki Miya3,4, Nanako Hamada5, Yutaka Negishi1, Yoko Narumi-Kishimoto 6, Hiroshi Ozawa6, Hidenori Ito5, Ikumi Hori1, Ayako Hattori1, Nobuhiko Okamoto7, Mitsuhiro Kato8, Tatsuhiko Tsunoda3,4, Yonehiro Kanemura9,10, Kenjiro Kosaki11, Yoshiyuki Takahashi2, Koh-ichi Nagata5, Shinji Saitoh
    • Organizer
      Annual Meeting of American Society of Human Genetics 2018
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K19524
  • [Presentation] OCCULT HEPATITIS B VIRUS INFECTION IN CHILDREN BORN TO HEPATITIS B VIRUS MOTHERS AFTER PASSIVE-ACTIVE IMMUNOPROPHYLAXIS IN JAPAN2017

    • Author(s)
      Shogo Ito, Koichi Ito, Takeshi Endo, Tokio Sugiura, Yasuhito Tanaka, Shinji Saitoh.
    • Organizer
      North American Society for Pediatric Gastroenterology, Hepatology and Nutrition Annual Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10070
  • [Presentation] ANTIVIRAL THERAPY DURING PREGNANCY SUCCESSFULLY PREVENTED MOTHER-TO-CHILD TRANSMISSION OF HEPATITIS B VIRUS INFECTION2017

    • Author(s)
      T. Sugiura,K. Ito, S. Saitoh,et al.
    • Organizer
      North American Society for Pediatric Gastroenterology, Hepatology and Nutrition Annual Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10070
  • [Presentation] PI3K-AKT-mTOR経路異常による巨脳症の臨床的・分子遺伝学的・生化学的検討2017

    • Author(s)
      堀いくみ、根岸豊、宮冬樹、角田達彦、金村米博、小崎健次郎、齋藤伸治
    • Organizer
      第62回日本人類遺伝学会学術集会
    • Data Source
      KAKENHI-PROJECT-16K15530
  • [Presentation] Bilateral hypoplasia of the internal carotid artery in two Japanese patients with Alagille syndrome2016

    • Author(s)
      Koichi Ito, Shigeru Honda, Takeshi Endo, Takao Togawa, Tokio Sugiura, Shinji Saitoh
    • Organizer
      The 5th World Congress of Pediatric Gastroenterology, Hepatology and Nutrition
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2016-10-05
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10070
  • [Presentation] CTCF遺伝子欠失を認めた2女児の臨床的および遺伝学的検討2016

    • Author(s)
      堀いくみ, 河村理恵, 中林一彦, 家田大輔, 大橋圭, 根岸豊, 服部文子, 杉尾嘉嗣, 涌井敬子, 黒澤健司, 秦健一郎, 副島英伸, 齋藤伸治
    • Organizer
      第39回日本小児遺伝学会学術集会
    • Place of Presentation
      慶應義塾大学三田北館ホール
    • Year and Date
      2016-12-09
    • Data Source
      KAKENHI-PROJECT-15K08330
  • [Presentation] B型肝炎ウイルス母子感染予防の新方式は周知されているか?2016

    • Author(s)
      河崎 翔太, 杉浦 時雄, 遠藤 剛, 伊藤 孝一, 加藤 丈典, 齋藤 伸治
    • Organizer
      第43回日本小児栄養消化器肝臓学会
    • Place of Presentation
      つくば国際会議場(茨城県・つくば市)
    • Year and Date
      2016-09-16
    • Data Source
      KAKENHI-PROJECT-16K10070
  • [Presentation] ペグインターフェロン治療中にHBe抗原セロコンバージョンが得られたB型慢性肝炎5歳例2016

    • Author(s)
      伊藤 孝一, 遠藤 剛, 戸川 貴夫, 杉浦 時雄, 三宅 能成, 斎藤 伸治
    • Organizer
      第119回日本小児科学会学術集会
    • Place of Presentation
      ロイトン札幌(北海道・札幌市)
    • Year and Date
      2016-05-13
    • Data Source
      KAKENHI-PROJECT-16K10070
  • [Presentation] Molecular genetic diagnosis of idiopathic hypogonadotropic hypogonadism by using targeted next-generation sequencing2016

    • Author(s)
      Aoyama K, Suzuki A, Tanaka T, Mizuno H, Saitoh S
    • Organizer
      55th Annual Meeting of European Society for Pediatric Endocrinology
    • Place of Presentation
      Paris, France
    • Year and Date
      2016-09-10
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09627
  • [Presentation] The various phenotype of ten CHARGE syndrome cases identified pathogenic CHD7 mutations2016

    • Author(s)
      Aoyama K, Mizuno H, Tanaka T, Suzuki A, Inaba M, Mizuno S, Saitoh S
    • Organizer
      the 9th Biennial Scientific Meeting of the Asia Pacific Pediatric Endocrinology Society
    • Place of Presentation
      東京国際フォーラム(東京都・千代田区)
    • Year and Date
      2016-11-17
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09627
  • [Presentation] 高ウイルス量妊婦への核酸アナログ投与によるB型肝炎ウイルス母子感染予防2016

    • Author(s)
      若野 泰宏, 杉浦 時雄, 遠藤 剛, 伊藤 孝一, 齋藤 伸治, 田中 靖人, 高野 智子, 田尻 仁, 鈴木 光幸
    • Organizer
      第43回日本小児栄養消化器肝臓学会
    • Place of Presentation
      つくば国際会議場(茨城県・つくば市)
    • Year and Date
      2016-09-16
    • Data Source
      KAKENHI-PROJECT-16K10070
  • [Presentation] Implementation of a new protocol to prevent mother-to-child transmission of hepatitis B virus infection in Japan2016

    • Author(s)
      Tokio Sugiura, Shota Kawasaki, Takeshi Endo, Koichi Ito, Takenori Kato, Shinji Saitoh
    • Organizer
      The 5th World Congress of Pediatric Gastroenterology, Hepatology and Nutrition
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2016-10-05
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10070
  • [Presentation] Combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway associated megalencephaly syndromes.2016

    • Author(s)
      Negishi Y, Miya F, Hattori A, Ando N, Hori I, Togawa T, Aoyama K, Ohashi K, Fukumura S, Mizuno S, Umemura A, Kishimoto Y, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S
    • Organizer
      International Congress of Human Genetics
    • Place of Presentation
      国立京都国際会館(京都府・京都市)
    • Year and Date
      2016-04-04
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15530
  • [Presentation] Successful pegylated interferon therapy for chronic hepatitis B in 5-year-old child patient2016

    • Author(s)
      Shota Kawasaki, Koichi Ito, Takeshi Endo, Tokio Sugiura, Yoshishige Miyake, Shinji Saitoh
    • Organizer
      The 5th World Congress of Pediatric Gastroenterology, Hepatology and Nutrition
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2016-10-05
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K10070
  • [Presentation] The dose dependent effect of growth hormone therapy in patients with IGF-1 receptor haploinsufficiency due to heterozygous deletion.2015

    • Author(s)
      Mizuno H, Aoyama K, Tanaka T, Saitoh S
    • Organizer
      54th Annual Meeting of the European Society for Paediatric Endocrinology
    • Place of Presentation
      Barcelona, Spain
    • Year and Date
      2015-10-01
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09627
  • [Presentation] 先天性低ゴナドトロピン性性腺機能低下症に対する網羅的解析2015

    • Author(s)
      青山幸平, 水野晴夫, 田中達之, 齋藤伸治
    • Organizer
      第49回日本小児内分泌学会学術集会
    • Place of Presentation
      タワーホール船堀(東京都江戸川区)
    • Year and Date
      2015-10-08
    • Data Source
      KAKENHI-PROJECT-15K09627
  • [Presentation] Longitudinal evaluation of patients with autonomous ovarian follicular cysts2013

    • Author(s)
      Mizuno H, Sugiyama Y, Aoyama K, Saitoh S
    • Organizer
      ESPE/PES/APEG/APPES/JESP/SLEP 9th Joint Meeting of Paediatric Endocrinology
    • Place of Presentation
      Milano Convention Centre (Milano, Italy)
    • Data Source
      KAKENHI-PROJECT-24591520
  • [Presentation] IGF-1受容体ヘテロ接合性欠失例に対する成長ホルモン治療の反応性についての検討2013

    • Author(s)
      水野晴夫, 青山幸平, 谷合弘子, 黒澤健司, 要 匡, 齋藤伸治
    • Organizer
      第47回日本小児内分泌学会学術集会
    • Place of Presentation
      浅草ビューホテル(東京)
    • Data Source
      KAKENHI-PROJECT-24591520
  • [Presentation] CHARGE症候群の思春期年齢以降での精巣機能の検討2013

    • Author(s)
      水野晴夫, 杉山由賀里, 林 祐太郎, 水野健太郎, 齋藤伸治
    • Organizer
      第86回日本内分泌学会学術集会
    • Place of Presentation
      仙台国際センター(仙台)
    • Data Source
      KAKENHI-PROJECT-24591520
  • [Presentation] CHARGE症候群の思春期年齢以降での精巣機能の検討2013

    • Author(s)
      水野 晴夫, 杉山 由賀里, 林 祐太郎, 水野健太郎, 齋藤伸治
    • Organizer
      第86回日本内分泌学会学術総会
    • Place of Presentation
      仙台国際センター(仙台)
    • Data Source
      KAKENHI-PROJECT-24591520
  • [Presentation] ゴナドトロピン単独欠損症男児における精巣機能の検討2012

    • Author(s)
      水野 晴夫, 岩山 秀之, 石田 敦士, 杉山 由賀里, 齋藤 伸治, 林 祐太郎
    • Organizer
      第85回日本内分泌学会学術総会
    • Place of Presentation
      名古屋国際会議場(名古屋)
    • Data Source
      KAKENHI-PROJECT-24591520
  • [Presentation] RNA-FISH法を用いたSNRPN・UBE3A遺伝子の 発現パターン解析2012

    • Author(s)
      河村 理恵、 齋藤 伸治、田辺 秀之、和田 敬仁、福嶋 義光、涌井 敬子
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-24659156
  • [Presentation] Nonlinear and nonrandom genome organization of SNRPN, UBE3A, and GABRB3 in the normal human nucleus by three-color 3D-fluorescence in situ hybridization2012

    • Author(s)
      Kawamura, R.(代表), Tanabe, H., Wada, T., Saitoh, S., Fukushima, Y., Wakui, K.
    • Organizer
      European Human Genetics Conference 2012
    • Place of Presentation
      Nürnberg, Germany
    • Year and Date
      2012-06-24
    • Data Source
      KAKENHI-PROJECT-24659156
  • [Presentation] Nonlinear and nonrandom genome organization of SNRPN, UBE3A, and GABRB3 in the normal human nucleus by three-color 3D-fluorescence in situ hybridization2012

    • Author(s)
      Kawamura R, Tanabe H, Wada T, Saitoh S, Fukushima Y, Wakui K.
    • Organizer
      European Human Genetics Conference 2012
    • Place of Presentation
      Nurnberg, Germany
    • Data Source
      KAKENHI-PROJECT-24659156
  • [Presentation] RNA-FISH法を用いたSNRPN・UBE3A遺伝子の発現パターン解析2012

    • Author(s)
      河村理恵(代表),齋藤伸治,田辺秀之,和田敬仁,福嶋義光,涌井敬子
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Year and Date
      2012-10-27
    • Data Source
      KAKENHI-PROJECT-24659156
  • [Presentation] Magnetoencephalography and Ethosuximide to identify atypical benign partial epilepsy : Rolandic-sylvian and thalamo-cortical epilepsy network2011

    • Author(s)
      Shiraishi H, Haginoya K, Nakagawa E, Saitoh S, Kohsaka S, Kaneko Y, Sugai K, Uematsu M, Kakisaka Y, Nakasato N, Chan D, Hanaya R, Akiyama T, Otsubo H
    • Organizer
      the 65th Annual Meeting of the American Epilepsy Society
    • Place of Presentation
      Baltimore Convention Center(Baltimore, USA)
    • Data Source
      KAKENHI-PROJECT-23591488
  • [Presentation] 5q31.3 microdeletion syndrome is a clinically discernible new syndrome characterized by severe neonatal hypotonia, feeding difficulties, respiratory distress, and severe developmental delay2011

    • Author(s)
      HOSOKI K, OHTA T, NATSUME J, IMAI S, OKUMURA A, MATSUI T, HARADA N, SCAGLIA F, BACINO CA, NIIKAWA N, SAITOH S
    • Organizer
      61th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2011-10-14
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] 5q31微細欠失は乳児期の筋緊張低下と重度精神遅滞を示す新しい症候群である2011

    • Author(s)
      齋藤伸治, 等
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      パシフィコ横浜(神奈川県)
    • Year and Date
      2011-05-26
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] 5q31微細欠失は乳児期の筋緊張低下と重度精神遅滞を示す新しい症候群である2011

    • Author(s)
      齋藤伸治、細木華奈、夏目淳、今井純好、中島翠、植田佑樹、朝比奈直子、白石秀明
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2011-05-26
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] Prader-Willi症候群の摂食の改善について2011

    • Author(s)
      高野亨子、小沢浩、稲田穣、上石晶子、有本潔、木実谷哲史、久保田雅也、齋藤伸治
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2011-05-26
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] PWS様表現型を示す微細染色体異常2011

    • Author(s)
      細木華奈、太田亨、新川詔夫、齋藤伸治
    • Organizer
      第56回日本人類遺伝学会
    • Place of Presentation
      幕張
    • Year and Date
      2011-11-10
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] Magnetoencephalography and Ethosuximide to identify atypical benign partial epilepsy: Rolandic-sylvian and thalamo-cortical epilepsy network2011

    • Author(s)
      Shiraishi H, Haginoya K, Nakagawa E, Saitoh S, Kohsaka S, Kaneko Y, Sugai K, Uematsu M, Kakisaka Y, Nakasato N, Chan D, Hanaya R, Akiyama T, Otsubo H
    • Organizer
      the 65th Annual Meeting of the American Epilepsy Society
    • Place of Presentation
      Baltimore Convention Center, Baltimore(USA)
    • Data Source
      KAKENHI-PROJECT-23591488
  • [Presentation] PWS様表現型を示す微細染色体異常2010

    • Author(s)
      細木華奈、太田亨、新川詔夫、齋藤伸治
    • Organizer
      第55回日本人類遺伝学会
    • Place of Presentation
      さいたま
    • Year and Date
      2010-10-28
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] 磁図計測を用いた皮質形成異常の早期診断2010

    • Author(s)
      白石秀明、植田佑樹、伊藤智城、高橋有美、香坂忍、齋藤伸治
    • Organizer
      第113回日本小児科学会総会
    • Place of Presentation
      盛岡
    • Year and Date
      2010-04-23
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] ゲノム刷り込み関連疾患Prader-Willi症候群の表現型を規定する遺伝学的因子の検討2010

    • Author(s)
      細木華奈、太田亨、新川詔夫、齋藤伸治
    • Organizer
      第33回日本分子生物学会年会
    • Place of Presentation
      神戸
    • Year and Date
      2010-12-07
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] 微細染色体異常はプラダー・ウィリー症候群の重要な鑑別診断である2010

    • Author(s)
      斉藤伸治, 等
    • Organizer
      第52回日本不児神経学会総会
    • Place of Presentation
      福岡
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] 微細染色体異常はプラダー・ウィリー症候群の重要な鑑別診断である2010

    • Author(s)
      齋藤伸治、高橋有美、植田佑樹、伊藤智城、白石秀明
    • Organizer
      第52回日本小児神経学会総会
    • Place of Presentation
      福岡
    • Year and Date
      2010-05-20
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] SLC9A6変異はアンジェルマン症候群の表現型を示すX連鎖精神遅滞である2009

    • Author(s)
      高橋有美、斎藤加代子、伊藤智城、柳生一自、朝比奈直子、白石秀明、齋藤伸治
    • 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-21591306
  • [Presentation] プラダー・ウィリー症候群様表現型を呈した微細染色体異常2009

    • Author(s)
      細木華奈、太田亨、沼部博直、高田史男、塩見正司、新川詔夫、齋藤伸治
    • Organizer
      第54回日本人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-25
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] 日本人Angelman症候群の分子遺伝学的および臨床的解析2009

    • Author(s)
      細木華奈、齋藤伸治
    • Organizer
      第16回遺伝子診療学会
    • Place of Presentation
      札幌
    • Year and Date
      2009-07-31
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] A novel SLC9A6 gene mutation in a Japanese patient resembling Angelman syndrome2009

    • Author(s)
      Takahashi Y, Funatsuka M, Saitoh K, Hosoki K, Ueda Y, Itoh T, Yagyu K, Shiraishi H, Saitoh S
    • Organizer
      59th Annual Meeting of American Society of Human Genetics
    • Place of Presentation
      Honolulu, USA
    • Year and Date
      2009-10-23
    • Data Source
      KAKENHI-PROJECT-21591306
  • [Presentation] 中大脳動脈領域に孔脳症を有する症候性局在関連てんかんは手術適応となる

    • Author(s)
      植田佑樹、中島翠、大塚耕右、柳生一自、朝比奈直子、白石秀明、香坂忍、中山東城,福輿なおみ、植松貢、須藤章、齋藤伸治
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      パシフィコ横浜, 横浜市
    • Data Source
      KAKENHI-PROJECT-23591488
  • [Presentation] 低ゴナドトロピン性性腺機能低下症10例に対するIon PGMを用いた網羅的遺伝子解析

    • Author(s)
      青山幸平, 水野晴夫, 田中達之, 齋藤伸治
    • Organizer
      第48回日本小児内分泌学会学術集会
    • Place of Presentation
      アクトシティ浜松(浜松)
    • Year and Date
      2014-09-25 – 2014-09-27
    • Data Source
      KAKENHI-PROJECT-24591520
  • [Presentation] Successful treatment of male congenital hypogonadotropic hypogonadism with rFSH pretreatment followed by GnRH

    • Author(s)
      Mizuno H, Aoyama K, Saitoh S
    • Organizer
      the 53rd The European Society for Paediatric Endocrinology meeting
    • Place of Presentation
      Convention Center Dublin (Dublin, Ireland)
    • Year and Date
      2014-09-18 – 2014-09-20
    • Data Source
      KAKENHI-PROJECT-24591520
  • [Presentation] 脳磁図の特性を生かした小児てんかん診療の構築を目指して

    • Author(s)
      植田佑樹、竹内文也、中島翠、大塚耕右、朝比奈直子、高橋香代子、中根進児、香坂忍、白石秀明、齋藤伸治
    • Organizer
      第26回日本生体磁気学会
    • Place of Presentation
      九州大学百年講堂, 福岡市
    • Data Source
      KAKENHI-PROJECT-23591488
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  • 68.  加藤 耕治
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  • 69.  岡崎 康司
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  • 70.  城村 由和
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  • 71.  松本 直通
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  • 72.  辻田 麻紀
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