okamoto nobuhiko 岡本伸彦

… Alternative Names

岡本伸彦オカモトノブヒコ

OKAMOTO Nobuhiko 岡本信彦

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Researcher Number	30416242
Other IDs
Affiliation (Current)	2025: 地方独立行政法人大阪府立病院機構大阪母子医療センター(研究所), 遺伝診療科, 主任部長 2025: 地方独立行政法人大阪府立病院機構大阪母子医療センター(研究所), 分子遺伝・内分泌代謝研究部門, 臨床研究医
Affiliation (based on the past Project Information) *help	2022 – 2023: 地方独立行政法人大阪府立病院機構大阪母子医療センター(研究所), 分子遺伝病研究部門, 所長兼遺伝診療科・主任部長 2012: 大阪府立母子総合医療センター, 企画調査部, 参事 2010: 地方独立法人大阪府立病院機構, 大阪府立母子保健総合医療センター, 企画調査部参事 2010: 地方独立行政法人大阪府立病院機構大阪府立母子保健総合医療センター, 遺伝診療科, 科長 2010: 大阪府立母子保健総合医療センター(研究所), 研究員 … More 2010: 大阪府立母子保健総合医療センター研究所, 小児科医, 参事 2009 – 2010: 地方独立行政法人大阪府立病院機構大阪府立母子保健総合医療センター(研究所), 遺伝診療科, 研究員 2009: 地方独立行政法人大阪府立病院機構大阪府立母子保健総合医療センター(研究所), 代謝部門, 研究員 2008: 地方独立行政法人大阪府立病院機構大阪府立母子保健総合医療センター(研究所), 企画調査部, 研究員 2008: 地方独立行政法人大阪府立病院機構大阪府立母子保健総合医療センター(研究所), 研究所・代謝部門, 研究員 2007: 地方独立行政法人大阪府立病院機構大阪府立母子保健総合医療センター(研究所), 病院企画調査部, 参事 2007: 大阪府立母子保健総台医療センター, 調査企画部, 参事小児科医 2006 – 2007: 大阪府立母子保健総合医療センター, 調査企画部, 参事小児科医 2006: 大阪府母子保健医療総合センター, 参事 2006: Osaka Medical Center and Research Institute for Maternal and Child Health, Councilor, 参事 2006: 大阪府立母子保健総合医療センター研究所, 兼務研究長 2005 – 2006: 大阪府立母子保健総合医療センター(研究所), 参事 Less
Review Section/Research Field	Except Principal Investigator Pediatrics / Basic Section 09030:Childhood and nursery/pre-school education-related / Human genetics / Cerebral neurosurgery / Embryonic/Neonatal medicine / Pathological medical chemistry
Keywords	Except Principal Investigator ゲノム / 遺伝子診断 / SHANK3 / FISH / CGH / 22q13.3欠失症候群 / Shank3 / シナプス / 広汎性発達障害 / 染色体異常 … More / 自閉症 / 障がい児支援 / 子育て支援 / ライフステージ / 社会的決定要因 / ユニバーサルアプローチ / 社会疫学 / 健康格差 / 障がい児 / synapse / mental retardation / genome / DNA diagnosis / 22q13.3 deletion syndrome / autism / 小児自閉症 / BAC / Diagnostic tool / Microarray / Chromosome aberration / Autism / Mental retardation / Congenital anomaly / 網羅的解析 / 遺伝疾患 / 精神発達遅滞 / マイクロアレイ / neural stem cells / prenatal diagnosis / gen, analysis / neural cell adhesion molecule / X-linked hydrocephalus / 神経幹細胞 / 出生前診断 / 遺伝子解析 / 神経接着因子 / X連鎖性遺伝性水頭症 / 小児科 / 先天奇形学 / 人類遺伝学 / 分子遺伝学 / 先天異常学 / 遺伝 / 言語障害 / 精神遅滞 / 脳発達 / MeCP2 / DNAメチル化、 / エピジェネティクス / 潜在性異常 / 奇形症候群 / アレイCGH法 / 先天異常 / トランスレーショナルリサーチ / 発現制御 / 脳神経疾患 / 遺伝子 / 遺伝学 / 治療法 / 病態 / エピゲノム / 小児 / フコース / ムチン型糖鎖 / 糖鎖合成異常症 / 異常代謝学 / 分析科学 / プロテオーム / 精神運動発達遅滞 / 糖タンパク質 / 質量分析 / 代謝異常症 / 生合成 / 糖鎖 / 脂肪酸 / Prader-Willi症候群 / 過食症 / 肥満 / 摂食調節 / グレリン / プラダー・ウィリー症候群 Less

Health inequality among children and an application of universal approach to parenting supports.
- Principal Investigator
  
  植田紀美子
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 09030:Childhood and nursery/pre-school education-related
- Research Institution
  Kansai University
Identification of novel disease genes utilizing next generation sequencer
- Principal Investigator
  
  MIYAKE Noriko
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Young Scientists (A)
- Research Field
  
  Pediatrics
- Research Institution
  Yokohama City University
Understanding of pathogenesis of autism and development of its therapeutic way based on epigenomic information
- Principal Investigator
  
  KUBOTA Takeo
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  University of Yamanashi
New diagnostic approach for malformation syndromes and genome-wide search for syndrome specific genome imbalance using DNA microarray
- Principal Investigator
  
  MAKITA Yoshio
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Asahikawa Medical College
Analysis of neuropathogenesis for autism spectrum disorders caused by mutation of SHANK3 gene.
- Principal Investigator
  
  UCHINO Shigeo
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Center of Neurology and Psychiatry
Basic Research on Congenital Disorders of Glycosylation (CDG)
- Principal Investigator
  
  WADA Yoshinao
- Project Period (FY)
  2007 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pathological medical chemistry
- Research Institution
  Research Institute, Osaka Medical Center for Maternal and Child Health
Pathological and epidemiological analysis of autism spectrum disorder based on synaptic molecules
- Principal Investigator
  
  UCHINO Shigeo
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Center of Neurology and Psychiatry
Development of array based comparative genomic hybridization (CGH) as a diagnostic tool for cryptic chromosome aberrations in congenital disorders
- Principal Investigator
  
  INAZAWA Johji
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Tokyo Medical and Dental University
プラダー・ウィリー症候群の摂食亢進におけるグレリンの役割
- Principal Investigator
  
  児島将康
- Project Period (FY)
  2004 – 2006
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Kurume University
Clinical evaluation and development of treatment for X linked hydrocephalus by gene mutation analysis of neural cell adhesion molecule L1CAM
- Principal Investigator
  
  YAMASAKI Mami
- Project Period (FY)
  2004 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Cerebral neurosurgery
- Research Institution
  National Hospital Organization Osaka National Hospital

All 2012 2011 2010 2009 2008 2007 2006 2004

All Journal Article Presentation

[Journal Article] KDM6A point mutations cause Kabuki syndrome2012
- Author(s)
  Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, *Matsumoto N (*: co-corresponding)
- Journal Title
  
  Hum Mut
  
  Volume: 34(1):108-110 Issue: 1 Pages: 108-110
- DOI
  10.1002/humu.22229
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005
[Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012
- Author(s)
  Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
- Journal Title
  
  Nat Genet
  
  Volume: 44 Issue: 4 Pages: 376-378
- DOI
  10.1038/ng.2219
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390104, KAKENHI-PROJECT-21591329, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-23390275, KAKENHI-PROJECT-23590383, KAKENHI-PROJECT-23591506, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24249019, KAKENHI-PROJECT-24591500, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PLANNED-24118007
[Journal Article] Homozygous c. 14576G> A Variant of<I> RNF213</I> Predicts Early-Onset and Severe Form of Moyamoya Disease2012
- Author(s)
  Miyatake S, Miyake N, Touho H, Nishimura-T, A, Kondo Y, Okada ; I, Tsurusaki ; Y, Doi H, Sakai H, Saitsu ; H, Shimojima K, Yamamoto T, Higurashi M, Kawahara, N, Kawauchi, H, Nagasaka, K, Okamoto N, Mori, T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsuba S, Kure S, Matsumoto N
- Journal Title
  
  Neurology
  
  Volume: 78(11) Issue: 11 Pages: 803-10
- DOI
  10.1212/wnl.0b013e318249f71f
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591117, KAKENHI-PROJECT-21591334, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-22890199, KAKENHI-PUBLICLY-23110534, KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24240042, KAKENHI-PROJECT-24659486, KAKENHI-ORGANIZER-24118001
[Journal Article] Novel variants of the SHANKS gene in Japanese autistic patients with severe delayed speech development.2011
- Author(s)
  Waga C, Okamoto N, Ondo Y, Goto Y, Kohsaka S, Uchino S
- Journal Title
  
  Psychiatr.Genet.
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591239
[Journal Article] Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients2011
- Author(s)
  Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 155A(8):1949-1958
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23689052
[Journal Article] Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.2011
- Author(s)
  Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, 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. 56(2)
  
  Pages: 110-24
- NAID
  10030657707
- Data Source
  KAKENHI-PROJECT-20390301
[Journal Article] 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.2011
- Author(s)
  Nakamura E, Makita Y, Okamoto T, Nagaya K, Hayashi T, Sugimoto M, Manabe H, Taketazu G, Kajino H, Fujieda K
- Journal Title
  
  Eur J Med Genet. 54(3)
  
  Pages: 354-6
- Data Source
  KAKENHI-PROJECT-20390301
[Journal Article] Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly.2008
- Author(s)
  Hayashi S, Okamoto N, Makita Y, Hata A, Imoto I, Inazawa J.
- Journal Title
  
  Am J Med Genet A. 146A(22)
  
  Pages: 2905-10
- Data Source
  KAKENHI-PROJECT-20390301
[Journal Article] 22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome?2007
- Author(s)
  岡本伸彦
- Journal Title
  
  American Journal of Medical Genetics 143A
  
  Pages: 2804-2809
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18591176
[Journal Article] 22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome2007
- Author(s)
  岡本伸彦
- Journal Title
  
  American Journal of Medical Genetics 143A
  
  Pages: 2804-2809
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18591176
[Journal Article] 22q13 microduplication in two patients with common clinical manifestation : A recognizable syndrome?2007
- Author(s)
  Nobuhiko Okamoto
- Journal Title
  
  American Journal of Medical Genetics Vol.143A
  
  Pages: 2804-2809
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18591176
[Journal Article] Molecular mechanisms and neuroimaging criteria for severe L1 syndrome With X-linked hydrocephalus.2006
- Author(s)
  Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kmiguti H, Yamasaki M
- Journal Title
  
  Journal of Neurosurgery : pediatrics 105(5)
  
  Pages: 403-412
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16390424
[Journal Article] Molecular mechanisms and neuroimageing criteria for severe L1 syndrome With X-linked hydrocephalus.2006
- Author(s)
  Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M.
- Journal Title
  
  Journal of Neurosurgery : pediatrics 105(5)
  
  Pages: 403-412
- Data Source
  KAKENHI-PROJECT-16390424
[Journal Article] Molecular mechanisms and neuroimageing criteria for severe L1 syndrome With X-linked hydrocephalus.2006
- Author(s)
  Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M
- Journal Title
  
  Journal of Neurosurgery : pediatrics 105(5)
  
  Pages: 403-412
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16390424
[Journal Article] Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.2004
- Author(s)
  Okamoto N, Kanemura Y, Yamasaki M(7名中, 1, 6, 7番目, 4名省略)
- Journal Title
  
  J Hum Genet 49
  
  Pages: 334-337
- NAID
  10013132109
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16390424
[Journal Article] Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.2004
- Author(s)
  Okamoto N, Kanemura Y, Yamasaki M(7名中、1、6、7番目、4名省略)
- Journal Title
  
  J Hum Genet 49
  
  Pages: 334-337
- NAID
  10013132109
- Data Source
  KAKENHI-PROJECT-16390424
[Journal Article] Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.2004
- Author(s)
  Okamoto N, Kanemura Y, Yamasaki M, et al.
- Journal Title
  
  J Hum Genet 49
  
  Pages: 334-337
- NAID
  10013132109
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16390424
[Presentation] 先天性糖鎖合成異常症の分子診断プログラム(第3報)2010
- Author(s)
  和田芳直、角谷真知子、岡本伸彦
- Organizer
  第35回日本医用マススペクトル学会年会
- Place of Presentation
  名古屋市
- Year and Date
  2010-09-09
- Data Source
  KAKENHI-PROJECT-19390093
[Presentation] Xp11.2微細重複症候群の一例2010
- Author(s)
  岡本伸彦、林深、稲澤譲二、蒔田芳男、羽田明
- Organizer
  第55回日本人類遺伝学会
- Place of Presentation
  埼玉
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] 新規症候群の可能性がある10p12.1-p11.23欠失の2症例2010
- Author(s)
  岡本奈那、林深、本田尚三、小栗泉、長谷川知子、小崎里華、井本逸勢、蒔田芳男、羽田明、森山啓司、稲澤譲二
- Organizer
  第55回日本人類遺伝学会
- Place of Presentation
  埼玉
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] 複数のゲノムアレイによる先天異常疾患におけるゲノム構造異常2010
- Author(s)
  林深、岡本奈那、本田尚三、井本逸勢、蒔田芳男、羽田明、稲澤譲二
- Organizer
  第55回日本人類遺伝学会
- Place of Presentation
  埼玉
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] アレイCGHで診断された1p34.3微細欠失2009
- Author(s)
  岡本伸彦、林深、井本逸勢、稲澤譲治、蒔田芳男、羽田明
- Organizer
  第54回日本人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] 小頭症と小脳脳幹部低形成を伴う発達遅滞12例におけるCASK遺伝子の解析2009
- Author(s)
  林深、岡本伸彦、水野誠司、小野正恵、小崎里華、奥山虎之、知念安紹、蒔田芳男、羽田明、井本逸勢、稲澤譲治
- Organizer
  第54回日本人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] 小頭症と小脳脳幹部低形成を呈するCASK異常症の臨床像2009
- Author(s)
  岡本伸彦、平井聡里、青天目信、荒井洋、林深、井本逸勢、稲澤譲治、蒔田芳男
- Organizer
  第51回日本小児神経学会総会
- Place of Presentation
  米子
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] 小頭症と小脳脳幹部低形成を伴う発達遅滞の原因遺伝子の候補であるCASKの解析2009
- Author(s)
  林深、岡本伸彦、水野誠司、小野正恵、小崎里華、奥山虎之、知念安紹、蒔田芳男、羽田明、井本逸勢、稲澤譲治
- Organizer
  第51回日本小児神経学会総会
- Place of Presentation
  米子
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] ゲノムアレイを用いた精神遅滞の診断プラットフォームの開発2009
- Author(s)
  蒔田芳男、斉藤伸治、羽田明、吉橋博史、黒澤健司、小崎里華、小野正恵、沼部博直、水野誠司、福嶋義光、岡本伸彦、三渕浩、知念安紹、林深、井本逸勢、稲澤譲治
- Organizer
  第112回日本小児科学会学術集会
- Place of Presentation
  奈良
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] アレイCGH法を用いた多発奇形を伴う精神遅滞症例解析の4年間の実績2009
- Author(s)
  林深、岡本奈那、本田尚三、蒔田芳男、羽田明、井本逸勢、稲澤譲治
- Organizer
  第54回日本人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] 新規症候群の可能性のある10q24微細欠失を伴う2症例の報告2009
- Author(s)
  岡本奈那、林深、黒澤健司、水野誠司、蒔田芳男、羽田明、井本逸勢、森山啓司、稲澤譲治
- Organizer
  第54回日本人類遺伝学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] Novel mutations in the SHANKS gene in autistic patients with severe delayed speech development.2009
- Author(s)
  Uchino S, Waga C, Okamoto N, Goto Y, Kohsaka S
- Organizer
  The 22nd Biennial Meeting of the International Society for Neurochemistry (ISN)/Asian Pacific Society for Neurochemistry (APSN) Joint Meeting.
- Place of Presentation
  Busan, Korea
- Year and Date
  2009-08-27
- Data Source
  KAKENHI-PROJECT-20591239
[Presentation] SHANK3異常症例の臨床的検討2008
- Author(s)
  岡本伸彦
- Organizer
  日本小児神経学会
- Place of Presentation
  東京
- Year and Date
  2008-05-29
- Data Source
  KAKENHI-PROJECT-20591239
[Presentation] 自閉症患者におけるシナプス機能分子SHANK3の遺伝子解析2008
- Author(s)
  内野茂夫、和賀央子、岡本伸彦、高坂新一
- Organizer
  第51回日本神経化学会、シンポジウム「発達障害の神経化学」
- Place of Presentation
  富山
- Year and Date
  2008-09-13
- Data Source
  KAKENHI-PROJECT-20591239
[Presentation] SHANK3異常症例の臨床的検討2008
- Author(s)
  岡本伸彦、内野茂夫
- Organizer
  第50回日本小児神経学会
- Place of Presentation
  東京
- Year and Date
  2008-05-29
- Data Source
  KAKENHI-PROJECT-20591239
[Presentation] ゲノムアレイを用いた先天異常症の効率的診断法の確立と疾患特異的構造異常の探索2008
- Author(s)
  蒔田芳男、斉藤伸治、羽田明、石井拓麿、吉橋博史、黒澤健司、小崎里華、小野正恵、沼部博直、水野誠司、古庄知己、福嶋義光、岡本伸彦、三渕浩、知念安紹、林深、井本逸勢、稲澤譲治
- Organizer
  第53回日本人類遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] 先天性糖鎖合成異常症の分子診断プログラム-第2報-2008
- Author(s)
  和田芳直, 角谷真知子, 田尻道子, 岡本伸彦
- Organizer
  日本医用マススペクトル学会第33回年会
- Place of Presentation
  東京
- Year and Date
  2008-09-26
- Data Source
  KAKENHI-PROJECT-19390093
[Presentation] ゲノムアレイを用いた先天異常症の効率的診断法の確立と疾患特異的構造異常の探索2008
- Author(s)
  蒔田芳男、藤枝憲二、斉藤伸治、羽田明、石井拓麿、吉橋博史、黒澤健司、小崎里華、小野正恵、沼部博直、水野誠司、古庄知己、福嶋義光、岡本伸彦、三渕浩、知念安紹、林深、井本逸勢、稲澤譲治
- Organizer
  第111回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20390301
[Presentation] 自閉症とSHANK3異常の関連2007
- Author(s)
  岡本伸彦
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2007-09-15
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18591176
[Presentation] The relation between autism and abnormality of SHANK32007
- Author(s)
  Nobuhiko Okamoto
- Organizer
  The Japan Society of Human Genetics
- Place of Presentation
  Tokyo
- Year and Date
  2007-09-15
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18591176
[Presentation] 先天性糖鎖合成異常症CDGの分子診断プログラム2007
- Author(s)
  和田芳直、角谷真知子、岡本伸彦
- Organizer
  第32回日本医用マススペクトル学会年会
- Place of Presentation
  京都
- Year and Date
  2007-09-28
- Data Source
  KAKENHI-PROJECT-19390093

1. KUBOTA Takeo (70293511)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
2. MAKITA Yoshio (20271778)

# of Collaborated Projects: 2 results

# of Collaborated Products: 15 results
3. HATA Akira (00244541)

# of Collaborated Projects: 2 results

# of Collaborated Products: 13 results
4. INAZAWA Johji (30193551)

# of Collaborated Projects: 2 results

# of Collaborated Products: 14 results
5. UCHINO Shigeo (30392434)

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
6. WADA Yoshinao (00250340)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
7. SHIBUKAWA Yukinao (90393264)

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8. TAJIRI Michiko (70581312)

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# of Collaborated Products: 1 results
9. DAIMON Etsuko (90581314)

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10. HIRAOKA Kenzo (80107218)

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11. TEZUKA Hideo (70155456)

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12. MIZUNO Seiji (20393150)

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13. ITOH Masayuki (50243407)

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14. NAMBA Takashi (70462794)

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15. WAGA Chikako (80462795)

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16. GONDA Yuko (60424181)

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17. MIYAKE Noriko (40523494)

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18. KATO Mitsuhiro (10292434)

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19. YAMASAKI Mami (10359309)

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20. KUSUOKA Hideo (00112011)

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21. KORETSUNE Yukihiro (50243217)

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22. KANEMURA Yonehiro (80344175)

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# of Collaborated Products: 6 results
23. KAMIGUCHI Hiroyuki (10233933)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
24. IMOTO Issei (30258610)

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25. OKUYAMA Torayuki (40177192)

# of Collaborated Projects: 1 results

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26. 児島将康 (20202062)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
27. 佐藤貴弘 (50368883)

# of Collaborated Projects: 1 results

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28. 松石豊治郎 (60157237)

# of Collaborated Projects: 1 results

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29. 永井敏郎 (90296129)

# of Collaborated Projects: 1 results

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30. 西芳寛 (20352122)

# of Collaborated Projects: 1 results

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31. 植田紀美子 (60538081)

# of Collaborated Projects: 1 results

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32. 本庄かおり (60448032)

# of Collaborated Projects: 1 results

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33. KUROIWA Yoshiyuki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
34. KOYANO Shigeru

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
35. 福嶋義光

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

okamoto nobuhiko 岡本 伸彦

岡本 伸彦 オカモト ノブヒコ

OKAMOTO Nobuhiko 岡本 信彦

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[Journal Article] KDM6A point mutations cause Kabuki syndrome2012

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[Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012

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[Journal Article] Homozygous c. 14576G> A Variant of<I> RNF213</I> Predicts Early-Onset and Severe Form of Moyamoya Disease2012

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[Journal Article] Novel variants of the SHANKS gene in Japanese autistic patients with severe delayed speech development.2011

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[Journal Article] Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients2011

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[Journal Article] Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.2011

okamoto nobuhiko 岡本伸彦

岡本伸彦オカモトノブヒコ

OKAMOTO Nobuhiko 岡本信彦