Hasegawa Tomonobu 長谷川奉延

… Alternative Names

HASEGAWA Tomonobu 長谷川奉延

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Researcher Number	20189533
Other IDs
External Links
Affiliation (Current)	2025: 慶應義塾大学, 医学部(信濃町), 教授
Affiliation (based on the past Project Information) *help	2016 – 2023: 慶應義塾大学, 医学部(信濃町), 教授 2015: 慶應義塾大学, 医学部, 教授 2012 – 2013: 慶應義塾大学, 医学部, 教授 2008 – 2011: Keio University, 医学部, 准教授 2007: 慶応義塾大学, 医学部小児科, 准教授 … More 2007: Keio University, 医学部・小児科, Associate Professor 2006: 慶応義塾大学, 医学部・小児科, 助教授 2002 – 2006: KEIO UNIVERSITY, PEDIATRICS, ASSOCIATE PROFESSOR, 医学部, 助教授 2001: 慶応義塾大学, 医学部, 専任講師 2000 – 2001: 慶應義塾大学, 医学部, 講師 Less
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 54040:Metabolism and endocrinology-related / Pediatrics Except Principal Investigator Pediatrics / Endocrinology / Pediatrics
Keywords	Principal Investigator StAR / MIRAGE症候群 / StAR knockout mice / 脂肪沈着 / StARノックアウトマウス / 先天性甲状腺機能低下症 / 副腎 / 遺伝子改変マウス / SAMD9 / 病理所見 … More / 表現型 / モデルマウス / ゲノム編集 / 疾患モデルマウス / 疾患モデルメダカ / 疾患モデル動物 / 疾患モデル細胞 / MIRAGEs症候群 / immortalized adrenal steroidogenic cell line / トランスジェニックマウス / 不死化副腎皮質ステロイ / 不死化副腎皮質ステロイドホルモン産生細胞 / neurosteroids / Apo A1 / 先天性リポイド副腎過形成 / HDL-コレステロール / Apolipoprotein A1 / コレステロール側鎖切断酵素 / 神経ステロイドホルモン / ApoA1 / lipid deposit / ovary / testes / GnRH double knockout mice / StAE / 精子形成 / テストステロン / 卵胞成熟 / エストラジオール / ゴナドトロピン / steroidogenic acute regulatory protein / 卵巣 / 精巣 / GnRHダブルノックアウトマウス / 分子機能 / TSHR / 環境因子 / 機能解析 / 有病率 / DUOX2 / 小児内分泌学 … More Except Principal Investigator SNP / SHOX / 下垂体疾患 / 病態モデル / 下垂体疾患モデル / iPS細胞 / 遺伝子異常 / 疾患特異的iPS細胞 / 下垂体機能低下症 / 先天性下垂体形成不全 / 下垂体 / 疾患iPS細胞 / Urine steroid hormone analysis / Endocrinology / 46, XX DSD / Steroidogenesis / Cytochrome P450 Oxidoreductase / 男性ホルモン / 胎盤アロマターゼ / 尿ステロイド代謝産物解析 / 性分化異常 / チトクロムP450オキシドレダクターゼ / Backdoor pathway / 内分泌学 / 性分化異常症 / ステロイド産生障害 / Cytochrome P450 oxidoreductase / LYMPHOEDEMA / GONADAL FUNCTION / SHORT STATURE / TURNER SKELETAL FEATURES / HAPLOINSUFFICIENCY / SEX CHROMOSOME / X染色体短腕欠失 / 量効果 / Langer type skeletal dysplasia / dyscondrosteosis / 下肢長比 / 座高 / 成長パターン / リンパ浮腫 / 性腺機能 / 特発性低身長 / ターナー骨格徴候 / 半量不全 / 性染色体 / 甲状腺 / 罹患率 / 遺伝子 / 小児 / リスク因子 / 遺伝 / 先天性甲状腺機能低下症 Less

Pathogenesis of adrenal insufficiency in MIRAGE syndrome revealed by genetically modified mousePrincipal Investigator
- Principal Investigator
  
  Hasegawa Tomonobu
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 54040:Metabolism and endocrinology-related
- Research Institution
  Keio University
The pathogenesis of MIRAGE syndrome revealed by model mice using genome editingPrincipal Investigator
- Principal Investigator
  
  Hasegawa Tomonobu
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 54040:Metabolism and endocrinology-related
- Research Institution
  Keio University
Congenital pituitary hypoplasia modeling using induced pluripotent cells
- Principal Investigator
  
  Takahashi Yutaka
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Endocrinology
- Research Institution
  Kobe University
Model cell-line and model animals of MIRAGE syndromePrincipal Investigator
- Principal Investigator
  
  Hasegawa Tomonobu
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
Can simultaneous mutations in TSHR and DUOX2 cause congenital hypothyroidism?
- Principal Investigator
  
  SUWANAI Ayuko
- Project Period (FY)
  2012 – 2013
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
Prevalence, clinical manifestation, and molecular mechanism of congenital hypothyroidism due to DUOX2 abnormalityPrincipal Investigator
- Principal Investigator
  
  HASEGAWA TOMONOBU
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
Molecular Mechanisms and Pathophysiology of Congenital HypothyroidismPrincipal Investigator
- Principal Investigator
  
  HASEGAWA Tomonobu
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
Clarification of molecular bases involved in 46, XX disorders development in patients with cytochrome P450 oxidoreductase deficiency
- Principal Investigator
  
  FUKAMI Maki
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development
StAR gene structure-function analysis using immortalized adrenal steroidogenic cell linePrincipal Investigator
- Principal Investigator
  
  HASEGAWA Tomonobu
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  KEIO UNIVERSITY
Analyses of congenital lipoid adrenal hyperplasia and nuerodteroids using StAR knockout micePrincipal Investigator
- Principal Investigator
  
  HASEGAWA Tomonobu
- Project Period (FY)
  2003 – 2004
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
The pathogenesis of congenital lipoid adrenal hyperplasia in gonads revealed by StAR knockout micePrincipal Investigator
- Principal Investigator
  
  HASEGAWA Tomonobu
- Project Period (FY)
  2001 – 2002
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Keio University
CLARIFICATION OF CLINICAL ROLE AND GROWTH REGULATION MECHANISM OF THE SHOX GENE ON THE HUMAN PSEUDOAUTOSOMAL REGION
- Principal Investigator
  
  MATSUO Nobutake
- Project Period (FY)
  2000 – 2002
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT
  Keio University

[Book] Principles of molecular medicine (2^<nd> edition)2006
- Author(s)
  Tomonobu, Hasegawa
- Total Pages
  1268
- Publisher
  Human Press
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17591113
[Book] Principles of molecular medicine (2^<nd> edition)2006
- Author(s)
  Tomonobu Hasegawa
- Total Pages
  1268
- Publisher
  Human Press
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17591113
[Book] Disorders of pubertal development2006
- Author(s)
  Tomonobu Hasegawa
- Publisher
  Human Press(印刷中)
- Data Source
  KAKENHI-PROJECT-17591113
[Book] Principles of Molecular Medicine, 2^<nd> edition2005
- Author(s)
  Tomonobu Hasegawa
- Publisher
  Human Press(in press)
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591132
[Book] Priniciples of Molecular Medicine
- Author(s)
  Tomonobu Hasegawa
- Publisher
  Human Press(in press)
- Data Source
  KAKENHI-PROJECT-15591132
[Book] Disorders of pubertal development. In ; Principles of Molecular Medicine, 2^<nd> edition
- Author(s)
  Tomonobu Hasegawa.
- Publisher
  Human Press (in press)
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591132
[Journal Article] Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome.2021
- Author(s)
  Mitsui-Sekinaka K, Narumi S, Sekinaka Y, Uematsu K, Yoshida Y, Amano N, Shima H, Hasegawa T, Nonoyama S.
- Journal Title
  
  J Clin Immunol.
  
  Volume: 41 Issue: 3 Pages: 709-711
- DOI
  10.1007/s10875-020-00964-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H03627, KAKENHI-PROJECT-20H03652, KAKENHI-PROJECT-18K08527, KAKENHI-PROJECT-20K22916, KAKENHI-PROJECT-20K16942
[Journal Article] MIRAGE症候群　先天性副腎低形成症を主徴とする新たな遺伝子疾患2018
- Author(s)
  鳴海覚志、長谷川奉延
- Journal Title
  
  最新医学
  
  Volume: 73 Pages: 1115-1120
- NAID
  40021652362
- Data Source
  KAKENHI-PROJECT-18K08527
[Journal Article] MIRAGE症候群2018
- Author(s)
  鳴海覚志、長谷川奉延
- Journal Title
  
  周産期医学
  
  Volume: 48 Pages: 1526-1530
- Data Source
  KAKENHI-PROJECT-18K08527
[Journal Article] MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.2018
- Author(s)
  Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S.
- Journal Title
  
  PLoS One.
  
  Volume: 13 Issue: 11 Pages: e0206184-e0206184
- DOI
  10.1371/journal.pone.0206184
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K11194, KAKENHI-PROJECT-18K08527, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17J40246, KAKENHI-PROJECT-16K09979
[Journal Article] 全身症状を生じる新たな遺伝子疾患「MIRAGE症候群」2017
- Author(s)
  天野直子、長谷川奉延
- Journal Title
  
  感染・免疫・炎症
  
  Volume: 47 Pages: 142-143
- Data Source
  KAKENHI-PROJECT-15K09599
[Journal Article] SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 72016
- Author(s)
  Narumi S*, et al., Matsumoto N, et al.
- Journal Title
  
  Nat Genet
  
  Volume: 48 Issue: 7 Pages: 792-797
- DOI
  10.1038/ng.3569
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-24591515, KAKENHI-PROJECT-26462714, KAKENHI-PROJECT-15K09599
[Journal Article] SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.2016
- Author(s)
  Narumi S, Amano N, Ishii T, Katsumata N, Hasegawa T, et al
- Journal Title
  
  Nat Genet
  
  Volume: in press
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15K09599
[Journal Article] Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess.2013
- Author(s)
  Kasahara T, Narumi S, Okasora K, Takaya R, Tamai H, Hasegawa T
- Journal Title
  
  Am J Med Genet A
  
  Volume: 161A Issue: 1 Pages: 214-217
- DOI
  10.1002/ajmg.a.35693
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591517
[Journal Article] Congenital hypothyroidism caused by a novel mutation of the dual oxidase2 (DUOX2) gene.2013
- Author(s)
  Yoshizawa-Ogasawara A, Ogikubo S, Satoh M, Narumi S, Hasegawa T
- Journal Title
  
  J Pediatr Endor Met
  
  Volume: 26 Issue: 1-2 Pages: 45-52
- DOI
  10.1515/jpem-2012-0082
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591517
[Journal Article] Molecular Basis of Thyroid Dyshormonogenesis : Genetic Screening in Population-Based Japanese Patients2011
- Author(s)
  Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T.
- Journal Title
  
  J Clin Endicrinol Metab
  
  Volume: 96 Issue: 11 Pages: E1838-E1842
- DOI
  10.1210/jc.2011-1573
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591517
[Journal Article] One novel and two recurrent THRB mutations associated with resistance to thyroid hormone : Structure-based computational mutation prediction2010
- Author(s)
  Narumi S, Cho H, Tamada I, Kozu Y, Tsuchiya T, Nagai T, Hasegawa T
- Journal Title
  
  Clin Pediatr Endocrinol 19
  
  Pages: 91-99
- NAID
  10031199615
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] Transcription factors mutations and congenital hypothyroidism : Systematic careening of a population-based cohort of Japanese patients2010
- Author(s)
  Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T
- Journal Title
  
  J Clin Endocrinol Metab 95
  
  Pages: 1981-1985
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification.2010
- Author(s)
  Asakura Y, Narumi S, Muroya K, Fujita K, Aida N, Hasegawa T, Adachi M.
- Journal Title
  
  Am J Med Genet
  
  Volume: 152A Pages: 1793-1797
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] Progression of Goiter in Pendred Syndrome is Associated with Increase of Thyroidal Iodine Uptake but not with Iodine Organification Defect : Report of a Patient with SLC26A4 Mutations2010
- Author(s)
  Asakura Y, Narumi S, Muroya K, Fujita K, Aida N, Hasegawa T, Adachi M
- Journal Title
  
  Am J Med Genet 152A
  
  Pages: 1793-1797
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] 家族性先天性甲状腺機能低下症の臨床的・分子遺伝学的検討2010
- Author(s)
  長崎啓祐、鳴海覚志、浅見直、小川洋平、菊池透、長谷川奉延、内山聖
- Journal Title
  
  ホと臨床 57
  
  Pages: 1001-1005
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] Transcription-factor mutations and congenital hypothyroidism : Systematic genetic screening of a population-based cohort of Japanese patients2010
- Author(s)
  Narumi S, Muroya K, Asakura Y, Adachi M, Hasegawa T
- Journal Title
  
  J Clin Endocrinol Metab 95
  
  Pages: 1981-1985
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] One novel and two recurrent THRB mutations associated with resistance to thyroid hormone : Structure-based computational mutation prediction.2010
- Author(s)
  Narumi S, Cho H, Tamada I, Kozu Y, Tsuchiya T, Nagai T, Hasegawa T.
- Journal Title
  
  Clin Pediatr Endocrinol
  
  Volume: 19 Pages: 91-99
- NAID
  10031199615
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] TSHR mutations as a cause of congenital hypothyroidism in Japan : a population-based genetic study2009
- Author(s)
  Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M, Hasegawa T
- Journal Title
  
  J Clin Endocrinol Metab 94
  
  Pages: 1317-1323
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] 先天性甲状腺機能低下症におけるTSH不応症の臨床的および遺伝学的検討2008
- Author(s)
  長崎啓祐、鳴海覚志、浅見直、菊池透、長谷川奉延、内山聖
- Journal Title
  
  ホと臨床 56
  
  Pages: 1213-1216
- Data Source
  KAKENHI-PROJECT-20591232
[Journal Article] Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency : implication for the backdoor pathway to dihydrotestosterone.2006
- Author(s)
  Homma K, Hasegawa T, Fukami M et al.
- Journal Title
  
  Journal of Clinical Endocrinology and Metabolism 91(7)
  
  Pages: 2643-2649
- Data Source
  KAKENHI-PROJECT-18591178
[Journal Article] Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency : implication for the backdoor pathway to dihydrotestosterone.2006
- Author(s)
  Homma K, Hasegawa T, Nagai T, Adachi M, Horikawa R, Fujiwara I, Tajima T, Takeda R, Fukami M, Ogata T.
- Journal Title
  
  J Clin Endocrinol Metab 91(7)
  
  Pages: 2643-9
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18591178
[Journal Article] Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.2006
- Author(s)
  Homma K, Hasegawa T, Fukami M, et. al.
- Journal Title
  
  J Clin Endocrinol Metab 91(7)
  
  Pages: 2643-2649
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18591178
[Journal Article] 先天性リポイド副腎過形成症の乳児の卵巣機能2004
- Author(s)
  上牧務, 長谷川奉延
- Journal Title
  
  ホルモンと臨床 52(増刊号)
  
  Pages: 104-107
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591132
[Journal Article] Ovarian function in an infant girl with congenital lipoid adrenal hyperplasia2004
- Author(s)
  Tsutomu Kamimaki, Tomonobu Hasegawa.
- Journal Title
  
  Hormone to Rinsyo 45 (Suppl)
  
  Pages: 104-107
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591132
[Journal Article] 先天性甲状腺機能低下症
- Author(s)
  鳴海覚志、長谷川奉延
- Journal Title
  
  ホと臨床 (in press)
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 副腎で輝く星・副腎に見える蜃気楼2021
- Author(s)
  長谷川奉延
- Organizer
  名古屋糖尿病・内分泌Online研究会
- Invited
- Data Source
  KAKENHI-PROJECT-18K08527
[Presentation] 小児期発症原発性副腎機能低下症の分子基盤2020
- Author(s)
  長谷川奉延
- Organizer
  第93回日本内分泌学会学術総会教育講演
- Invited
- Data Source
  KAKENHI-PROJECT-18K08527
[Presentation] 生化学的評価で原因特定が困難な小児期発症原発性副腎皮質機能低下症における既知単一遺伝病の頻度および新たに疾患単位として確立したMIRAGE症候群2019
- Author(s)
  長谷川奉延
- Organizer
  第27回日本ステロイドホルモン学会学術集会シンポジウム
- Invited
- Data Source
  KAKENHI-PROJECT-18K08527
[Presentation] Novel Genetic Mechanisms in Adrenal Disorders.2019
- Author(s)
  長谷川奉延
- Organizer
  6th Annual Endocrinology Debate and Global Exchange
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K08527
[Presentation] 副腎で輝く星・副腎に見える蜃気楼2019
- Author(s)
  長谷川奉延
- Organizer
  第6回PA・Aldosterone関連疾患研究会特別講演
- Invited
- Data Source
  KAKENHI-PROJECT-18K08527
[Presentation] Cutting edge: 日本から発信する新しい疾患概念 MIRAGE症候群―新規疾患単位の確立とその後の“思いもよらない”展開―2018
- Author(s)
  長谷川奉延
- Organizer
  第28回臨床内分泌代謝Update
- Invited
- Data Source
  KAKENHI-PROJECT-18K08527
[Presentation] MIRAGE症候群 - 原発性副腎皮質機能低下症の新規責任遺伝子同定、疾患単位確立、そして機能解析 -2017
- Author(s)
  長谷川奉延
- Organizer
  New Insights of Molecular Genetics on Grwoth Disorders
- Invited
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] 副腎低形成はMIRAGE症候群の必発徴候ではない：SGA出生46,XY性分化疾患49例におけるSAMD9変異スクリーニング2017
- Author(s)
  島彦仁、林美恵、天野直子、石井智弘、長谷川奉延、立花貴史、大城誠、五十嵐麻希、今雅史、深見真紀、鳴海覚志
- Organizer
  第51回日本小児内分泌学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE症候群―新規疾患単位の確立とその後の展開―2017
- Author(s)
  長谷川奉延
- Organizer
  第27回臨床内分泌代謝Updateモーニングセミナー
- Invited
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE症候群　－責任遺伝子同定、新規疾患単位確立、機能解析－2016
- Author(s)
  長谷川奉延
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應大学三田北館ホールと会議室（東京都三田）
- Year and Date
  2016-12-09
- Invited
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE Syndrome: A New Form of Syndromic Adrenal Hypoplasia Caused by Activating SAMD9 Mutations.2016
- Author(s)
  Narumi S, Amano N, Ishii T, Katsumata N, Fukuzawa R, Shimizu A, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T.
- Organizer
  The Endocrine Society’s 98th Annual Meeting&Expo
- Place of Presentation
  Boston, USA
- Year and Date
  2016-04-01
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE症候群　－原発性副腎皮質機能低下症の新規責任遺伝子同定、疾患単位確立、そして機能解析－2016
- Author(s)
  長谷川奉延
- Organizer
  Endocrinology and Metabolism Conference in Fukuoka
- Place of Presentation
  ホテルモントレ・ラスール福岡（福岡県福岡市）
- Invited
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE Syndrome: A New Adrenal Hypoplasia Syndrome Caused by Heterozygous SAMD9 Mutations.2016
- Author(s)
  Amano N, Narumi S, Ishii T, Katsumata N, Fukuzawa R, Shimizu A, Miyake N, Matsumoto N, Hasegawa T
- Organizer
  The 17th Adrenal Cortex Conference
- Place of Presentation
  Boston (U.S.A.)
- Year and Date
  2016-03-29
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE症候群：機能亢進型SAMD9変異を原因とする新規症候群の発見2015
- Author(s)
  鳴海覚志、天野直子、石井智弘、勝又規行、福澤龍二、芝田晋介、岡野栄之、清水厚志、三宅紀子、松本直通、長谷川奉延
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE症候群の分子病態2015
- Author(s)
  鳴海覚志、天野直子、石井智弘、柴田晋介、岡野栄之、長谷川奉延
- 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（東京江戸川区）
- Year and Date
  2015-10-08
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE症候群：機能亢進型SAMD9変異を原因とする新規症候群の発見2015
- Author(s)
  鳴海覚志、天野直子、石井智弘、勝又規行、福澤龍二、清水厚志、三宅紀子、松本直道、長谷川奉延
- Organizer
  第25回臨床内分泌代謝Update
- Place of Presentation
  東京国際フォーラム（東京都千代田区）
- Year and Date
  2015-11-28
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] MIRAGE症候群：副腎低形成を伴う新規症候群の疾患概念の確立と責任遺伝子の同定2015
- Author(s)
  天野直子、鳴海覚志、石井智弘、勝又規行、福澤龍二、清水厚志、三宅紀子、松本直通、長谷川奉延
- 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（東京江戸川区）
- Year and Date
  2015-10-08
- Data Source
  KAKENHI-PROJECT-15K09599
[Presentation] 遺伝性甲状腺ホルモン合成障害を初診時に予測できる:ROC解析によるカットオフ値の提唱2013
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、長崎啓祐、阿部貴行、長谷川奉延
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] Monoallelic mutations in TSHR and DUOX2 do not act as single Mendelian factors but as risk factors for congenital hypothyroidism : Pathway burden hypothesis2013
- Author(s)
  Abe K. Narumi S, Amano N, Ishii T, Muroya K, Asakura Y, Adachi M, Sasaki G, Nagasaki K, Abe T, Hasegawa T.
- Organizer
  9th Joint Meeting of Paediatric Endocrinology ESPE–PES–APEG–APPES–ASPAE–JSPE–SLEP
- Place of Presentation
  Milan,Italy
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 従来法vs次世代法:先天性甲状腺機能低下症における遺伝子診断アプローチの精度比較2013
- Author(s)
  鳴海覚志、阿部清美、室谷浩二、朝倉由美、安達昌功、長谷川奉延
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] A study of iodine organization in transient hypothyroidism with biallelic DUOX2 mutations : organization defect is not an invariable feature2013
- Author(s)
  Nagasaki K, Narumi S, Abe K, Asami T, Sato H, Ogawa Y, Kikuchi T, Hasegawa T, Saitoh A.
- Organizer
  9th Joint Meeting of Paediatric Endocrinology ESPE–PES–APEG–APPES–ASPAE–JSPE–SLEP
- Place of Presentation
  Milan, Italy
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] Monoallelic mutations in TSHR and DUOX2 do not act as single Mendelian factors but as risk factors for congenital hypothyroidism: Pathway burden hypothesis.2013
- Author(s)
  Abe K. Narumi S, Amano N, Ishii T, Muroya K, Asakura Y, Adachi M, Sasaki G, Nagasaki K, Abe T, Hasegawa T
- Organizer
  9th Joint Meeting of Paediatric Endocrinology ESPE-PES-APEG-APPES-ASPAE-JSPE-SLEP
- Place of Presentation
  Milan, Italy
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 先天性甲状腺機能低下症私たちは今どこにいるの?これからどこに行くの?2013
- Author(s)
  長谷川奉延
- Organizer
  第27回東北成長障害・成長因子研究会
- Place of Presentation
  仙台
- Year and Date
  2013-03-09
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 遺伝性甲状腺ホルモン合成障害を初診時に予測できる：ROC解析によるカットオフ値の提唱2013
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、長崎啓祐、阿部貴行、長谷川奉延
- 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（東京都台東区）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 従来法vs次世代法：先天性甲状腺機能低下症における遺伝子診断アプローチの精度比較2013
- Author(s)
  鳴海覚志、阿部清美、室谷浩二、朝倉由美、安達昌功、長谷川奉延
- 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（東京都台東区）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マススクリーニングで発見されなかった先天性甲状腺機能低下症の3例2013
- Author(s)
  上村美季、鳴海覚志、梅木郁美、箱田明子、菅野潤子、長谷川奉延、藤原幾磨
- 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（東京都台東区）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] Levothyroxine内服量の経時的変化からみたDUOX2遺伝子異常とTSHR遺伝子異常との相違2013
- Author(s)
  木戸佑二、室谷浩二、阿部清美、飯島弘之、花川純子、朝倉由美、鳴海覚志、長谷川奉延、安達昌功
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 橋本病母体より出生し、新生児マススクリーニングは正常判定であったDUOX2異常症の1例2013
- Author(s)
  河口亜津彩、本庄紗帆、母坪智行、星野恵美子、黒岩由紀、布施茂登、森俊彦、横田美紀、阿部清美、鳴海覚志、長谷川奉延
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 橋本病母体より出生し、新生児マススクリーニングは正常判定であったDUOX2異常症の1例2013
- Author(s)
  河口亜津彩、本庄紗帆、母坪智行、星野恵美子、黒岩由紀、布施茂登、森俊彦、横田美紀、阿部清美、鳴海覚志、長谷川奉延
- 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（東京都台東区）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] Levothyroxine内服量の経時的変化からみたDUOX2遺伝子異常とTSHR遺伝子異常との相違2013
- Author(s)
  木戸佑二、室谷浩二、阿部清美、飯島弘之、花川純子、朝倉由美、鳴海覚志、長谷川奉延、安達昌功
- 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（東京都台東区）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マススクリーニングで発見されなかった先天性甲状腺機能低下症の3例2013
- Author(s)
  上村美季、鳴海覚志、梅木郁美、箱田明子、菅野潤子、長谷川奉延、藤原幾磨
- Organizer
  第47回日本小児内分泌学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] A study of iodine organization in transient hypothyroidism with biallelic DUOX2 mutations: organization defect is not an invariable feature.2013
- Author(s)
  Nagasaki K, Narumi S, Abe K, Asami T, Sato H, Ogawa Y, Kikuchi T, Hasegawa T, Saitoh A
- Organizer
  9th Joint Meeting of Paediatric Endocrinology ESPE-PES-APEG-APPES-ASPAE-JSPE-SLEP
- Place of Presentation
  Milan, Italy
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 次世代シーケンシングによる先天性甲状腺機能低下症の包括的遺伝子解析2012
- Author(s)
  鳴海覚志、阿部清美、天野直子、石井智弘、長谷川奉延
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  福岡
- Year and Date
  2012-11-30
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 先天性甲状腺機能低下症発症におけるPathway Burden仮説の提唱2012
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、佐々木悟郎、長崎啓祐、阿部貴行、長谷川奉延
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  福岡
- Year and Date
  2012-11-30
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 先天性甲状腺機能低下症発症におけるPathway Burden仮説の提唱2012
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、佐々木悟郎、長崎啓祐、阿部貴行、長谷川奉延
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 両アレル性DUOX2変異例におけるヨード有機化能の検討2012
- Author(s)
  長崎啓祐、鳴海覚志、阿部清美、佐藤英利、小川洋平、浅見直、長谷川奉延、菊池透
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  福岡
- Year and Date
  2012-11-30
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 先天性甲状腺機能低下症発症におけるPathway Burden仮説の提唱2012
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、佐々木悟郎、長崎啓祐、阿部貴行、長谷川奉延
- Organizer
  第46回日本小児内分泌学会学術集会
- Place of Presentation
  大阪国際会議場
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マス・スクリーニングでは発見されなかった複合ヘテロ接合性DUOX2変異の一女児例2011
- Author(s)
  笠原俊彦、鳴海覚志、岡空圭輔、高谷竜三、長谷川奉延、玉井浩
- Organizer
  第54回日本甲状腺学会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マス・スクリーニング陰性であった両アレル性DUOX2変異による一過性先天性甲状腺機能低下症の一例2011
- Author(s)
  笠原俊彦、鳴海覚志、岡空圭輔、高谷竜三、長谷川奉延、玉井浩
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮(ポスター)
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] DUOX2変異による偽性優性遺伝を示した先天性甲状腺機能低下症の一家系2011
- Author(s)
  阿部清美、濱島崇、鳴海覚志、長谷川奉延
- Organizer
  第54回日本甲状腺学会学術集会
- Place of Presentation
  大阪国際交流センター（大阪）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 両アレル性DUOX2変異による一過性先天性甲状腺機能低下症の1家系2011
- Author(s)
  滝沢文彦、小野真、松原洋平、高澤啓、保坂篤人、鳴海覚志、阿部清美、長谷川奉延、鹿島田健一、水谷修紀
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮ソニックシティ（埼玉）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マス・スクリーニング陰性であった両アレル性DUOX2変異による一過性先天性甲状腺機能低下症の一例2011
- Author(s)
  笠原俊彦、鳴海覚志、岡空圭輔、高谷竜三、長谷川奉延、玉井浩
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮ソニックシティ（埼玉）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] DUOX2変異による偽性優性遺伝を示した先天性甲状腺機能低下症の一家系2011
- Author(s)
  阿部清美、濱島崇、鳴海覚志、長谷川奉延
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] DUOX2変異による偽性優性遺伝を示した先天性甲状腺機能低下症の一家系2011
- Author(s)
  阿部清美、濱島崇、鳴海覚志、長谷川奉延
- Organizer
  第54回日本甲状腺学会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] DUOX2変異による偽性優性遺伝を示した先天性甲状腺機能低下症の一家系2011
- Author(s)
  阿部清美、濱島崇、鳴海覚志、長谷川奉延
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮ソニックシティ（埼玉）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 新生児マス・スクリーニングでは発見されなかった複合ヘテロ接合性DUOX2変異の一女児例2011
- Author(s)
  笠原俊彦、鳴海覚志、岡空圭輔、高谷竜三、長谷川奉延、玉井浩
- Organizer
  第54回日本甲状腺学会学術集会
- Place of Presentation
  大阪国際交流センター（大阪）
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 両アレル性DUOX2変異による一過性先天性甲状腺機能低下症の1家系2011
- Author(s)
  滝沢文彦、小野真、松原洋平、高澤啓、保坂篤人、鳴海覚志、阿部清美、長谷川奉延、鹿島田健一、水谷修紀
- Organizer
  第45回日本小児内分泌学会学術集会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 甲状腺ホルモン受容体β遺伝子にヘテロ接合性変異を認めた甲状腺ホルモン不応症の7歳女児例2010
- Author(s)
  後藤元秀、河田泰定、山本幸代、石井雅宏、荒木俊介、川越倫子、久保和泰、楠原浩一、鳴海覚志、長谷川奉延
- Organizer
  第44回日本小児内分泌学会学術集会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Genetic congenital hypothyroidism : who's at risk?, and how do we identify them?2010
- Author(s)
  Narumi S, Amano N, ishii T, Murota K, Asakura Y, Adachi M, Hasegawa T
- Organizer
  Pediatric Academic Societies' 2010 Annual meeting
- Place of Presentation
  Tronto
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] PAX8変異の機能喪失機序は多様である:転写因子解析のピットフォール2010
- Author(s)
  鳴海覚志、室谷浩二、朝倉由美、安達昌功、長谷川奉延
- Organizer
  第44回日本小児内分泌学会
- Place of Presentation
  大阪
- Year and Date
  2010-10-08
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Congenital hypothyroidism due to PAX8 mutations : Clinical and genetic features2010
- Author(s)
  Narumi S, Muroya K, Asakura Y, Amano N, Ishii T, Adachi M, Hasegawa T
- Organizer
  International Symposium on Pediatric Endocrinology, official ICE 2010 Satellite Symposium
- Place of Presentation
  Tokyo
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 一過性甲状腺機能低下症におけるDUOX2遺伝子解析の検討2010
- Author(s)
  長崎啓祐、鳴海覚志、小川洋平、菊池透、浅見直、長谷川奉延、内山聖
- Organizer
  第53回日本甲状腺学会
- Place of Presentation
  長崎
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Congenital hypothyroidism due to PAX8 mutations : Clinical and genetic features2010
- Author(s)
  Narumi S, Muroya K, Asakura Y, Amano N, Ishii T, Adachi M, Hasegawa T
- Organizer
  International Symposium on Pediatric Endocrinology, official ICE 2010 Satellite Symposium
- Place of Presentation
  東京
- Year and Date
  2010-03-31
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] PAX8変異の機能喪失の機序は多様である:転写因子解析のピットフォール2010
- Author(s)
  鳴海覚志、室谷浩二、朝倉由美、安達昌功、長谷川奉延
- Organizer
  第44回日本小児内分泌学会学術集会
- Place of Presentation
  大阪
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 甲状腺形成異常におけるCopy number variation異常解析2010
- Author(s)
  鳴海覚志、室谷浩二、朝倉由美、安達昌功、長崎啓祐、天野直子、石井智弘、石井美穂、江見充、長谷川奉延
- Organizer
  第53回日本甲状腺学会
- Place of Presentation
  長崎
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] TSH受容体遺伝子(TSHR)に新規変異V711fsを認めた甲状腺機能低下症の1家系2010
- Author(s)
  小野真、鳴海覚志、宮井健太郎、松原洋平、高澤啓、滝沢文彦、鹿島田健一、長谷川奉延、大西寿和
- Organizer
  第83回日本内分泌学会学術総会
- Place of Presentation
  京都
- Year and Date
  2010-03-26
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Genetic congenital hypothyroidism : who's at risk?, and how do we identify them?2010
- Author(s)
  Narumi S, Amano N, Ishii T, Muroya K, Asakura Y, Adachi M, Hasegawa T.
- Organizer
  Pediatric Academic Societies' 2010 Annual Meeting
- Place of Presentation
  トロント
- Year and Date
  2010-05-01
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 重症型甲状腺機能低下、Tgの高値を示し、DUOX2異常をヘテロ接合性に認めた同胞例2009
- Author(s)
  吉田彩子、鈴木潤一、齊藤宏、和田美夏、浦上達彦、鳴海覚志、長谷川奉延
- Organizer
  第43回日本小児内分泌学会
- Place of Presentation
  宇都宮
- Year and Date
  2009-10-03
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] TSH受容体遺伝子に新規変異を認めた甲状腺機能低下症の1家族例2009
- Author(s)
  小野真、鳴海覚志、大西寿和、宮井健太郎、松原洋平、高澤啓、滝沢文彦、鹿島田健一、長谷川奉延、水谷修紀
- Organizer
  第43回日本小児内分泌学会
- Place of Presentation
  宇都宮
- Year and Date
  2009-10-01
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] PAX8変異陽性甲状腺細胞は胎児甲状腺様の組織像を呈する2009
- Author(s)
  鳴海覚志、吉田明、安達昌功、朝倉由美、室谷浩二、亀山香織、長谷川奉延
- Organizer
  第43回日本小児内分泌学会
- Place of Presentation
  宇都宮
- Year and Date
  2009-10-01
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 新生児マススクリーニングでは発見されなかったPAX-8遺伝子異常による原発性甲状腺機能低下症の1家系2009
- Author(s)
  山本幸代、荒木俊介、久保和泰、川越倫子、河田泰定、土橋一重、白幡聡、鳴海覚志、長谷川奉延
- Organizer
  第82回日本内分泌学会学術総会
- Place of Presentation
  前橋
- Year and Date
  2009-04-23
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] TGを含む3遺伝子に配列変化を認めた甲状腺機能低下症の同胞例2009
- Author(s)
  鳴海覚志、井ノ口美香子、天野直子、石井智弘、長谷川奉延
- Organizer
  第19回臨床内分泌代謝Update
- Place of Presentation
  東京
- Year and Date
  2009-03-13
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Genetic congenital hypothyroidism : who's at risk?, and how do we identify them?2009
- Author(s)
  Narumi S, Murota K, Asakura Y, Amano N, Ishii T, Adachi M, Hasegawa T
- Organizer
  LWPES/ESPE 8^<th> Joint Meeting
- Place of Presentation
  New York
- Year and Date
  2009-09-12
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] PAX8変異陽性甲状腺細胞は胎児甲状腺様の組織像を呈する2009
- Author(s)
  鳴海覚志、吉田明、安達昌功、朝倉由美、室谷浩二、亀山香織、長谷川奉延
- Organizer
  第52回日本甲状腺学会
- Place of Presentation
  名古屋
- Year and Date
  2009-11-04
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] Genetic congenital hypothyroidism : who's at risk?, and how do we identify them?2009
- Author(s)
  Narumi S, Murota, K, Asakura, Y, Amano N, Ishii T, Adachi M, Hasegawa T
- Organizer
  LWPES/ESPE 8^<th> Joint Meeting
- Place of Presentation
  ニューヨーク
- Year and Date
  2009-09-12
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 家族性先天性甲状腺機能低下症の臨床的・分子遺伝学的検討2008
- Author(s)
  長崎啓祐、鳴海覚志、小川洋平、菊池透、長谷川奉延、浅見直
- Organizer
  第42回日本小児内分泌学会
- Place of Presentation
  米子
- Year and Date
  2008-10-02
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 先天性甲状腺機能低下症におけるTSH不応症の臨床的及び遺伝学的検討2008
- Author(s)
  長崎啓祐、鳴海覚志、浅見直、小川洋平、菊池透、長谷川奉延、内山聖
- Organizer
  第51回日本甲状腺学会
- Place of Presentation
  宇都宮
- Year and Date
  2008-11-22
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 先天性甲状腺機能低下症における甲状腺転写因子群の包括的遺伝子解析2008
- Author(s)
  鳴海覚志、室谷浩二、朝倉由美、天野直子、石井智弘、安達昌功、長谷川奉延
- Organizer
  第42回日本小児内分泌学会
- Place of Presentation
  米子
- Year and Date
  2008-10-02
- Data Source
  KAKENHI-PROJECT-20591232
[Presentation] 先天性甲状腺機能低下症発症におけるPathway Burden仮説の提唱
- Author(s)
  阿部清美、鳴海覚志、天野直子、石井智弘、室谷浩二、朝倉由美、安達昌功、佐々木悟郎、長崎啓祐、阿部貴行、長谷川奉延
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  アクロス福岡
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 両アレル性DUOX2変異例におけるヨード有機化能の検討
- Author(s)
  長崎啓祐、鳴海覚志、阿部清美、佐藤英利、小川洋平、浅見直、長谷川奉延、菊池透
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  アクロス福岡
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 次世代シーケンシングによる先天性甲状腺機能低下症の包括的遺伝子解析
- Author(s)
  鳴海覚志、阿部清美、天野直子、石井智弘、長谷川奉延
- Organizer
  第55回日本甲状腺学会
- Place of Presentation
  アクロス福岡
- Data Source
  KAKENHI-PROJECT-23591517
[Presentation] 先天性甲状腺機能低下症　私たちは今どこにいるの？これからどこに行くの？
- Author(s)
  長谷川奉延
- Organizer
  第27回東北成長障害・成長因子研究会
- Place of Presentation
  仙台国際ホテル
- Invited
- Data Source
  KAKENHI-PROJECT-23591517

1. NARUMI Satoshi (40365317)

# of Collaborated Projects: 5 results

# of Collaborated Products: 0 results
2. 石井智弘 (70265867)

# of Collaborated Projects: 3 results

# of Collaborated Products: 8 results
3. 天野直子 (70348689)

# of Collaborated Projects: 3 results

# of Collaborated Products: 9 results
4. 高田修治 (20382856)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
5. NARUMI Satoshi (21791006)

# of Collaborated Projects: 1 results

# of Collaborated Products: 77 results
6. SUWANAI Ayuko (90383851)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. MATSUO Nobutake (50173802)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. OGATA Tsutomu (40169173)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. KOSAKI Kenjiro (30234743)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. FUKAMI Maki (40265872)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
11. Takahashi Yutaka (70301281)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. 勝又規行 (10260340)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
13. 木下政人 (60263125)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. 奥山虎之

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. 五十嵐麻希

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
16. 松本直通

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Hasegawa Tomonobu 長谷川 奉延

HASEGAWA Tomonobu 長谷川 奉延

Research Projects

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Pathogenesis of adrenal insufficiency in MIRAGE syndrome revealed by genetically modified mousePrincipal Investigator

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The pathogenesis of MIRAGE syndrome revealed by model mice using genome editingPrincipal Investigator

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Congenital pituitary hypoplasia modeling using induced pluripotent cells

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Model cell-line and model animals of MIRAGE syndromePrincipal Investigator

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Can simultaneous mutations in TSHR and DUOX2 cause congenital hypothyroidism?

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Prevalence, clinical manifestation, and molecular mechanism of congenital hypothyroidism due to DUOX2 abnormalityPrincipal Investigator

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Molecular Mechanisms and Pathophysiology of Congenital HypothyroidismPrincipal Investigator

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Clarification of molecular bases involved in 46, XX disorders development in patients with cytochrome P450 oxidoreductase deficiency

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StAR gene structure-function analysis using immortalized adrenal steroidogenic cell linePrincipal Investigator

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Analyses of congenital lipoid adrenal hyperplasia and nuerodteroids using StAR knockout micePrincipal Investigator

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The pathogenesis of congenital lipoid adrenal hyperplasia in gonads revealed by StAR knockout micePrincipal Investigator

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CLARIFICATION OF CLINICAL ROLE AND GROWTH REGULATION MECHANISM OF THE SHOX GENE ON THE HUMAN PSEUDOAUTOSOMAL REGION

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[Book] Principles of molecular medicine (2^<nd> edition)2006

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Total Pages

Hasegawa Tomonobu 長谷川奉延

HASEGAWA Tomonobu 長谷川奉延

[Journal Article] MIRAGE症候群　先天性副腎低形成症を主徴とする新たな遺伝子疾患2018