YAMADA Kenichirou 山田憲一郎

… Alternative Names

山田憲一郎ヤマダケンイチロウ

YAMADA Kenichiro 山田憲一郎

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Researcher Number	30291173
Other IDs
Affiliation (Current)	2025: 愛知県医療療育総合センター発達障害研究所, 遺伝子医療研究部, 主任研究員
Affiliation (based on the past Project Information) *help	2019 – 2022: 愛知県医療療育総合センター発達障害研究所, 遺伝子医療研究部, 主任研究員 2011 – 2018: 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 主任研究員 2010: 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 研究員 2009: 愛知県心身障害者コロニー発逹障害研究所, 遺伝学部, 研究員 2009: 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 主任研究者 2000 – 2006: Department of Genetics, Institute for Developmental Disease, Aichi Human Service Center, 遺伝学部, 研究員
Review Section/Research Field	Principal Investigator Biological pharmacy / Basic Section 55010:General surgery and pediatric surgery-related / Pediatrics / Pediatric surgery Except Principal Investigator Pediatrics / Pathological medical chemistry / Neurology / Biological Sciences / Science and Engineering
Keywords	Principal Investigator 巨大結腸症 / 知的障害 / 重度知的障害 / 全エクソーム解析 / 病因遺伝子 / DiGeorge症候群 / TBX1 / ZEB2 / モワット・ウィルソン症候群 / 特徴的な顔貌 … More / 精神運動発達遅滞 / グルタチオン / バリン代謝 / ミトコンドリア / HIBCH欠損症 / 脱毛 / IFAP症候群 / BRESEK/BRESHECK症候群 / 魚鱗癬 / 小胞体ストレス / BRESHECK/IFAP症候群 / MBTPS2 / 遣伝子 / 蛋白質 / 脳・神経 / 脳神経疾患 / 遺伝子 / シグナル伝達 / PLEKHA5 / ヒルシュスプルング病症候群 / siRNA / Sip1 / ZFHX1B … More Except Principal Investigator 知的障害 / SLC19A3 / SIP1 / ZFHX1B / nonsense mutation / 疾患モデルマウス / 遺伝子改変マウス / 病因遺伝子 / ノックインマウス / 精神遅滞 / 小児神経学 / 脳発達障害 / 神経呈 / てんかん / ヒルシュスプルング病 / 神経細胞死 / ミクログリア / 治療 / チアミン / SLC19A3遺伝子 / frame shift mutation / agenesis of corpus callosum / congenital heart disease / facial dysmorphism / microcephaly / translocation / autosomal dominant / mental retardation / 常染色体優勢遺伝 / 発達障害 / 第2染色体 / 巨大結腸症 / 染色体転座 / 常染色体優性遺伝 / aberrant splicing / α-mannosidosis / α-mannosidase / HEK293細胞 / α-マンノシダーゼ / α-マンノシダーゼ-シス / スプライシング異常 / 不安定mRNA / 軽症型 / ナンセンス変異 / α-マンノシドーシス / 染色体逆位 / 欠失 / 逆位 / 均衡型相互転座 / 先天異常 / Sandhoff病 / 重度精神遅滞 / PLEKHA5 / 重度知的障害 / サイアミントランスポーター / スーパーオキシドディスムターゼ / 培養上清 / 細胞増殖促進物質 / 活性酸素 / ミトコンドリア / アデニン / 突然変異 / 低分子物質 / 増殖促進物質 / 誘導期 / 分裂酵母 Less

Identification of novel causal genes in patients clinically diagnosed with Mowat-Wilson syndrome presenting Hirschsprung diseasePrincipal Investigator
- Principal Investigator
  
  Yamada Kenichiro
- Project Period (FY)
  2019 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 55010:General surgery and pediatric surgery-related
- Research Institution
  Institute for Developmental Research Aichi Developmental Disability Center
Search for the therapeutic methods for SLC19A3 deficiency using disease model mice.
- Principal Investigator
  
  Wakamatsu Nobuaki
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kagawa University
The treatment strategy for HIBCH deficiency targeting mitochondrial dysfunctionPrincipal Investigator
- Principal Investigator
  
  Yamada Kenichiro
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
Clinical and genetic characterization of patients with intellectual disability caused by chromosome structural abnormalities.
- Principal Investigator
  
  Fukushi Daisuke
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
MBTPS2 mutation causes BRESEK/BRESHECK syndromePrincipal Investigator
- Principal Investigator
  
  YAMADA Kenichiro
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatric surgery
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
The pathogenic mechanisms of severe intellectual disabiIity caused by PLEKHA5 or SLC19A3 mutations studied using mouse models of the diseases.
- Principal Investigator
  
  WAKAMATSU Nobuaki
- Project Period (FY)
  2009 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
Molecular and biochemical analysis of the severe mental retardation caused by PLEKHA5 or SLC19A3 mutations.
- Principal Investigator
  
  WAKAMATSU Nobuaki
- Project Period (FY)
  2006 – 2009
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
重度知的障害の染色体転座部位に局在するPLEKHA5の機能解析Principal Investigator
- Principal Investigator
  
  山田憲一郎
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Biological pharmacy
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
二本鎖RNAを用いたSmad結合タンパク1(Sip1)の核内シグナル伝達の解明Principal Investigator
- Principal Investigator
  
  山田憲一郎
- Project Period (FY)
  2003 – 2004
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Biological pharmacy
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
分裂酵母の生産する細胞増殖促進物質に関する研究
- Principal Investigator
  
  武藤宣博
- Project Period (FY)
  2001 – 2002
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Science and Engineering
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
知的障害を呈する神経堤発達障害の病因遺伝子の同定と機能解析
- Principal Investigator
  
  WAKAMATSU Nobuaki
- Project Period (FY)
  2001
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas (C)
- Review Section
  
  Biological Sciences
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
Identification and characterization of genes in patients with severe mental retardation caused by autosomal dominant trait.
- Principal Investigator
  
  WAKAMATSU Nobuaki
- Project Period (FY)
  2001 – 2002
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pathological medical chemistry
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
Molecular genetic analysis and trial of making mouse model of α-mannosidosis.
- Principal Investigator
  
  WAKAMATSU Nobuaki
- Project Period (FY)
  1999 – 2000
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Aichi Human Service Center

[Book] ZEB2 （関連疾患：Mowat-Wilson症候群）. 小児科診療.2021
- Author(s)
  山田憲一郎、林深、若松延昭
- Total Pages
  3
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-19K09062
[Book] HPRT欠損症(Lesch-Nyhan症候群).先天代謝異常ハンドブック,II各論,12章プリン・ピリミジン代謝異常,遠藤文雄編2013
- Author(s)
  山田裕一
- Publisher
  中山書店
- Data Source
  KAKENHI-PROJECT-21390319
[Book] 痛風と核酸代謝36遺伝病診療：HPRT欠損症診断「核酸代謝の研究はいかに生命科学の発展に寄与したか」2013
- Author(s)
  山田裕一
- Total Pages
  134
- Publisher
  日本痛風・核酸代謝学会
- Data Source
  KAKENHI-PROJECT-21390319
[Book] HGPRTaseの遺伝子異常と女児例の発見.特集「日本が貢献した世界的新知見」,高尿酸血症と痛風2013
- Author(s)
  山田裕一
- Data Source
  KAKENHI-PROJECT-21390319
[Book] 先天代謝異常ハンドブック，II各論, 12章プリン・ピリミジン代謝異常，遠藤文雄編2013
- Author(s)
  山田裕一
- Publisher
  中山書店
- Data Source
  KAKENHI-PROJECT-21390319
[Book] 別冊　新領域別症候群シリーズ No.19「先天代謝異常症候群（第２版）-病因・病態研究．診断治療の進歩-」（上）ヒポキサンチン-グアニンホスホリボシルトランスフェラーゼ欠損症．2012
- Author(s)
  山田裕一
- Publisher
  日本臨牀
- Data Source
  KAKENHI-PROJECT-21390319
[Book] PRPP合成酵素遺伝子PRPS]の遺伝子異常に起因する4つの症候群.痛風と核酸代謝2012
- Author(s)
  山田裕一
- Data Source
  KAKENHI-PROJECT-21390319
[Book] ヒポキサンチンーグアニンホスホリボシルトランスフェラーゼ欠損症.別冊日本臨床新領域別症候群シリーズNo.19「先天代謝異常症候群(第2版)-病因・病態研究.診断治療の進歩-」(上)2012
- Author(s)
  山田裕一
- Data Source
  KAKENHI-PROJECT-21390319
[Book] Aneuploidy and intellectual disability, in Aneuploidy in Health and Disease, Storchova Z ed, InTech-Open Access Publisher2012
- Author(s)
  Fukushi D, Mizuno S, Yamada K, Kimura R, Yamada Y, Kumagai T, Wakamatsu N
- Publisher
  Rijeka, Croatia
- Data Source
  KAKENHI-PROJECT-21390319
[Book] 小児科診療-増刊号「特集小児の治療指針」, 核酸代謝異常(Lesch-Nyhan 症候群など)2010
- Author(s)
  山田裕一
- Publisher
  診断と治療社(印刷中)
- Data Source
  KAKENHI-PROJECT-18390305
[Book] 小児科診療-増刊号「特集小児の治療指針」,核酸代謝異常(Lesch-Nyhan症候群など)2010
- Author(s)
  山田裕一
- Publisher
  診断と治療社(印刷中)
- Data Source
  KAKENHI-PROJECT-21390319
[Book] 核酸代謝異常(Lesch-Nyhan症候群など).小児科診療一増刊号「特集小児の治療指針」2010
- Author(s)
  山田裕一
- Data Source
  KAKENHI-PROJECT-21390319
[Book] 高尿酸血症と痛風(HPRT欠損症「特集:尿酸産生異常の成因」, 17)2009
- Author(s)
  山田裕一
- Data Source
  KAKENHI-PROJECT-18390305
[Book] HPRT欠損症.「特集:尿酸産生異常の成因」.高尿酸血症と痛風172009
- Author(s)
  山田裕一
- Data Source
  KAKENHI-PROJECT-21390319
[Book] 腎とフリーラジカル(培養平滑筋細胞・メサンギウム細胞のExtracellular-Superoxide Dismutase産生, 第9集)2008
- Author(s)
  山田晴生, 山田裕一, 足立哲夫, 宮本敢右, 木村行宏, 鹿島悠佳理, 竹澤有美子, 前田邦博, 水野奈津子, 森由貴, 青山龍平, 吉野雅人, 若松亮, 山口諭, 管憲広, 渡辺一司, 北川渡, 三浦直人, 西川和裕, 普天間新生, 今井裕一
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-18390305
[Book] 日本臨牀(HPRT欠損症「特集:高尿酸血症・痛風Update」, 66)2008
- Author(s)
  山田裕一
- Data Source
  KAKENHI-PROJECT-18390305
[Book] 腎とフリーラジカル(腹腔内Extracellular-superoxide dismutase産生の誘導, 第9集)2008
- Author(s)
  山田晴生, 足立哲夫, 山田裕一, 宮本敢右, 木村行宏, 鹿島悠佳理, 竹澤有美子, 前田邦博, 水野奈津子, 森由貴, 青山龍平, 吉野雅人, 若松亮, 山口諭, 管憲広, 渡辺一司, 北川渡, 三浦直人, 西川和裕, 普天間新生, 今井裕一
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-18390305
[Book] 痛風と核酸代謝(プリン代謝系酵素の酵素化学的研究および遺伝子解析)2007
- Author(s)
  山田裕一
- Data Source
  KAKENHI-PROJECT-18390305
[Book] 実験医学(見えない染色体異常-染色体構築と分配機構の異常による先天性疾患)2007
- Author(s)
  小野教夫, 木村礼子, 山田憲一郎, 若松延昭
- Data Source
  KAKENHI-PROJECT-18390305
[Book] 腎とフリーラジカル(CAPD療法での腹腔内Extracellular Superoxide Dismutase産生, 第8集)2006
- Author(s)
  山田晴生, 山田裕一, 足立哲夫, 吉野雅文1, 渡辺一司, 北川渡, 西川和裕, 普天間新生, 今井裕一
- Data Source
  KAKENHI-PROJECT-18390305
[Book] 医学のあゆみ別冊, 酸化ストレス(吉川敏一編, 細胞外型Cu, Zn-Superoxide dismutaseと慢性腎不全)2006
- Author(s)
  山田晴生, 足立哲夫, 山田裕一, 今井裕一
- Data Source
  KAKENHI-PROJECT-18390305
[Book] 血液透析患者の血清抗malondialdehyde-modified LDL (MDA-LDL)抗体とその意義. 腎とフリーラジカル第8集2006
- Author(s)
  山田晴生, 足立哲夫, 山田裕一, 森由貴, 青山龍平, 三浦直人, 佐久間正人, 西川和裕, 普天間新生, 今井裕一
- Data Source
  KAKENHI-PROJECT-18390305
[Book] Genetic Errors Associated with Purine and Pyrimidine Metabolism in Humans: Diagnosis and Treatment(Moriwaki Y ed, Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.)2006
- Author(s)
  Yamada Y, Wakamatsu N
- Publisher
  Research Signpost, Kerala
- Data Source
  KAKENHI-PROJECT-18390305
[Book] 小児科診療-増刊号「特集小児の治療指針」(核酸代謝異常(Lesch-Nyhan症候群など))
- Author(s)
  山田裕一
- Publisher
  (印刷中)
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation.2018
- Author(s)
  Fukushi D, Yamada K, Suzuki K, Inaba M, Nomura N, Suzuki Y, Katoh K, Mizuno S, Wakamatsu N.
- Journal Title
  
  Gene
  
  Volume: 655 Pages: 65-70
- DOI
  10.1016/j.gene.2018.02.049
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10070
[Journal Article] Novel mutation in HPRT1 causing a splicing error with multiple variations.2017
- Author(s)
  Baba S, Saito T, Yamada Y, Takeshita E, Nomura N, Yamada K, Wakamatsu N, Sasaki M.
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids
  
  Volume: 36 Issue: 1 Pages: 1-6
- DOI
  10.1080/15257770.2016.1163381
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26462225, KAKENHI-PROJECT-15K09610
[Journal Article] Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.2017
- Author(s)
  Fukushi D, Kurosawa K, Suzuki Y, Suzuki K, Yamada K, Watanabe S, Yokochi K, Wakamatsu N.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 173(8) Issue: 8 Pages: 2201-2209
- DOI
  10.1002/ajmg.a.38313
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10070, KAKENHI-PROJECT-15K06764, KAKENHI-PROJECT-15K09610
[Journal Article] The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS).2017
- Author(s)
  Suzuki Y, Enokido Y, Yamada K, Inaba M, Kuwata K, Hanada N, Morishita T, Mizuno S, Wakamatsu N.
- Journal Title
  
  Oncotarget
  
  Volume: 8(28) Issue: 28 Pages: 45470-45483
- DOI
  10.18632/oncotarget.17566
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10070, KAKENHI-PROJECT-16K14586, KAKENHI-PROJECT-15K06764, KAKENHI-PROJECT-15K09610, KAKENHI-PLANNED-25117007
[Journal Article] High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.2017
- Author(s)
  Suzuki K, Yamada K, Fukuhara Y, Tsuji A, Shibata K, Wakamatsu N.
- Journal Title
  
  PLoS One
  
  Volume: 12(6) Issue: 6 Pages: 1-17
- DOI
  10.1371/journal.pone.0180279
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10070, KAKENHI-PROJECT-15K09610
[Journal Article] Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion2015
- Author(s)
  Yamada K, Aiba K, Kitaura Y, Kondo Y, Nomura N, Nakamura Y, Fukushi D, Murayama K, Shimomura Y, Pitt J, Yamaguchi S, Yokochi K, Wakamatsu N
- Journal Title
  
  Journal of Medical Genetics
  
  Volume: 52 Issue: 10 Pages: 691-698
- DOI
  10.1136/jmedgenet-2015-103231
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09593, KAKENHI-PROJECT-15K09610, KAKENHI-PROJECT-26462225, KAKENHI-PROJECT-25461576
[Journal Article] Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.2014
- Author(s)
  Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 164(4) Issue: 4 Pages: 924-933
- DOI
  10.1002/ajmg.a.36373
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592636, KAKENHI-PROJECT-25461576, KAKENHI-PROJECT-26462225
[Journal Article] Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP22014
- Author(s)
  Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 164A(4) Pages: 924-933
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592636
[Journal Article] Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.2014
- Author(s)
  Naiki M, Ochi N, Kato YS , Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N
- Journal Title
  
  Am J Med Genet A
  
  Volume: in press Issue: 5 Pages: 1180-1187
- DOI
  10.1002/ajmg.a.36434
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592636, KAKENHI-PROJECT-24659268, KAKENHI-PROJECT-26462225
[Journal Article] The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations2014
- Author(s)
  Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nish E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N.
- Journal Title
  
  Am J Med Genet A
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592636
[Journal Article] Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy2014
- Author(s)
  Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 164(5) Pages: 1180-1187
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592636
[Journal Article] The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.2014
- Author(s)
  Yamada Y, Nomura N, Yamada K, et al. （32名中3番目）
- Journal Title
  
  Am J Med Genet A
  
  Volume: in press Issue: 8 Pages: 1899-908
- DOI
  10.1002/ajmg.a.36551
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592636, KAKENHI-PROJECT-25461542, KAKENHI-PROJECT-26462225
[Journal Article] HGPRTaseの遺伝子異常と女児例の発見．特集「日本が貢献した世界的新知見」2013
- Author(s)
  山田裕一
- Journal Title
  
  高尿酸血症と痛風
  
  Volume: 21 Pages: 27-32
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype2013
- Author(s)
  Yamada K, Takado Y, Kato YS, Yamada Y, Ishiguro H, Wakamatsu N.
- Journal Title
  
  J Biochem.
  
  Volume: 153(1) Pages: 111-119
- NAID
  40019546596
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592636
[Journal Article] Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype.2013
- Author(s)
  Yamada K, Takado Y, Kato YS, Yamada Y. Ishiguro H, Wakamatsu N
- Journal Title
  
  J Biochem
  
  Volume: 153 Pages: 111-119
- NAID
  40019546596
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Genotype-phenotype correlations in neurogenetics : Lesch-Nyhan disease as a model disorder.2013
- Author(s)
  Fu R, Ceballos-Picot I, Torres R, Larovere L, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JQ O'Neill PJ, Jinnah HA, for the Lesch-Nyhan Disease International Study Group
- Journal Title
  
  Brain
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Identification and characterization of splicing variants ofPLEKHA5 (Plekha5) during brain development.2012
- Author(s)
  Yamada K, Nomura N, Yamano A, Yamada Y, Wakamatsu N
- Journal Title
  
  Gene
  
  Volume: 492 Issue: 1 Pages: 270-275
- DOI
  10.1016/j.gene.2011.10.018
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319, KAKENHI-PROJECT-22591270, KAKENHI-PROJECT-23592636
[Journal Article] MBTPS2 mutation causes BRESEK/BRESHECK syndrome.2012
- Author(s)
  Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 158A Issue: 1 Pages: 97-102
- DOI
  10.1002/ajmg.a.34373
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319, KAKENHI-PROJECT-22591270, KAKENHI-PROJECT-23592636, KAKENHI-PROJECT-24590185
[Journal Article] MBTPS2 mutation causes BRESEK/BRESHECK syndrome2012
- Author(s)
  Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 158 Pages: 97-102
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592636
[Journal Article] PRPP合成酵素遺伝子PRPS1の遺伝子異常に起因する４つの症候群．2012
- Author(s)
  山田裕一
- Journal Title
  
  痛風と核酸代謝
  
  Volume: 36 Pages: 1-8
- NAID
  130001921987
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Identification and characterization of splicing variants of PLEKHA5 (Plekha5) during brain development2012
- Author(s)
  Yamada K, Nomura N, Yamano A, Yamada Y, Wakamatsu N.
- Journal Title
  
  Gene. 15
  
  Volume: 492(1) Pages: 270-275
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592636
[Journal Article] Clinical and genomic characterization of sibling with a distal duplication of chromosome 9q [9q34.1-qter].2011
- Author(s)
  Mizuno S, Fukushi D, Kimura R, Yamada K, Yamada Y, Kumagai T, Wakamatsu N
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A Issue: 9 Pages: 2274-2280
- DOI
  10.1002/ajmg.a.34160
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319, KAKENHI-PROJECT-22591270
[Journal Article] Hypoxanthme guanine phosphoribosyltransferase (HPRT) mutations in Asian population.2011
- Author(s)
  Yamada Y, Wakamatsu N, Taniguchi A, Kaneko K, Fujimori S
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids
  
  Volume: 30 Issue: 12 Pages: 1248-1255
- DOI
  10.1080/15257770.2011.603714
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319, KAKENHI-PROJECT-22591270
[Journal Article] 核酸代謝異常(Lesch-Nyhan症候群など)2010
- Author(s)
  山田裕一
- Journal Title
  
  小児科診療-増刊号「特集小児の治療指針」
  
  Volume: 73 Pages: 520-522
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-Hnked inborn errors of purine metabolism.2010
- Author(s)
  Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids
  
  Volume: 29 Issue: 4-6 Pages: 291-294
- DOI
  10.1080/15257771003738691
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319, KAKENHI-PROJECT-22591270
[Journal Article] Characterization of a de novo balanced t(4;20)(q33;q12)translocation in a patient with mental retardation.2010
- Author(s)
  Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N
- Journal Title
  
  BMC Medical Genetics
  
  Volume: 11 Pages: 171-171
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Analysis of purine in purine-rich cauliflower.2010
- Author(s)
  Yamaoka N, Kaneko K, Kudo Y, Aoki M, Yasuda M, Mawatari K, Nakagomi K, Yamada Y, Yamamoto T
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids
  
  Volume: 29 Pages: 518-521
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Characterization of a de novo balanced t(4;20)(q33;ql2) translocation in a patient with mental retardation.2010
- Author(s)
  Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki K, Yamada Y, Mizuno S, Wakamatsu N
- Journal Title
  
  Am JMed Genet A
  
  Volume: 152A Issue: 12 Pages: 3057-3057
- DOI
  10.1002/ajmg.a.33174
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319, KAKENHI-PROJECT-22591270
[Journal Article] Characterization of a de novo balanced t(4; 20)(q33;q12)translocation in a patient with mental retardation2010
- Author(s)
  Yamada K, Yamada Y, Wakamatsu N, et al.
- Journal Title
  
  Am J Med Genet (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.2010
- Author(s)
  Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N
- Journal Title
  
  BMC Medical Genetics
  
  Volume: 11 Issue: 1 Pages: 171-171
- DOI
  10.1186/1471-2350-11-171
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319, KAKENHI-PROJECT-22591213, KAKENHI-PROJECT-22591270
[Journal Article] Characterization of a de novo balanced t(4;20)(q33;q12)translocation in a patient with mental retardation.2010
- Author(s)
  Yamada K, Fukushi D, Ono T, Kondo Y, Kimura R, Nomura N, Kosaki K, Yamada Y, Mizuno S, Wakamatsu N
- Journal Title
  
  Am J Med Genet, A
  
  Volume: 152A Pages: 3057-3057
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Mawatari K, Nakagomi K, Yamada Y, Yamamoto T : Content of purine nucleotides, nucleosides, and bases in purine-rich cauliflower.2010
- Author(s)
  Yamaoka N, Yamada Y, et al.
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.2010
- Author(s)
  Yamada Y, Wakamatsu N, et al.
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Mawatari K, Nakagomi K, Yamada Y, Yamamoto T : Content of purine nucleotides, nucleosides, and bases in purine-rich cauliflower2010
- Author(s)
  Yamaoka N, Yamada Y, et al.
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Characterization of a de novo balanced t(4;20)(q33;q12)translocation in a patient with mental retardation.2010
- Author(s)
  Yamada K, Yamada Y, Wakamatsu N, et al.
- Journal Title
  
  Am J Med Genet (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.2010
- Author(s)
  Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids
  
  Volume: 29 Pages: 291-294
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism2010
- Author(s)
  Yamada Y, Wakamatsu N, et al.
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article]2009
- Author(s)
  山田裕一
- Journal Title
  
  高尿酸血症と痛風 17巻2号「特集:尿酸産生異常の成因」,HPRT欠損症.(メディカルレビュー社)
  
  Pages: 118-123
- Data Source
  KAKENHI-PROJECT-21390319
[Journal Article]2009
- Author(s)
  山田裕一
- Journal Title
  
  高尿酸血症と痛風17巻2号「特集:尿酸産生異常の成因」, HPRT欠損症(メディカルレビュー社)
  
  Pages: 118-123
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.2008
- Author(s)
  Ishida Y, Ishimaru A, Tauchi H, Yamaguchi A, Yokoyama M, Hiroi K, Wakamatsu N, Yamada Y
- Journal Title
  
  Eur J Pediatr 167
  
  Pages: 957-959
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy2008
- Author(s)
  Ishida Y, Wakamatsu N, Yamada Y, et al.
- Journal Title
  
  Eur J Pediatr 167
  
  Pages: 957-959
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article]2008
- Author(s)
  山田裕一
- Journal Title
  
  日本臨牀66巻4号「特集:高尿酸血症・痛風Update」, HPRT欠損症(日本臨牀社)
  
  Pages: 687-693
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Molecular analysis of HPRT deficiencies: novel mutations and the spectrum of Japanese mutations.2008
- Author(s)
  Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids 27
  
  Pages: 570-574
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Molecular analysis of HPRT deficiencies : novel mutations and the spectrum of Jananese mutations2008
- Author(s)
  Yamada Y, Wakamatsu N, et al.
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids 27
  
  Pages: 570-574
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Mowat-Wilson syndrome affecting 3 siblings.2008
- Author(s)
  Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N
- Journal Title
  
  J Child Neurol 23
  
  Pages: 274-278
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Mowat-Wilson syndrome affecting 3 siblings2008
- Author(s)
  Ohtsuka M, Yamada Y, Wakamatsu N, et al.
- Journal Title
  
  J Child Neurol 23
  
  Pages: 274-278
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Molecular analysis of HPRT deficiencies:novel mutations and the spectrum of Japanese mutations.2008
- Author(s)
  Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S
- Journal Title
  
  Nucleosides Nucleotides and Nucleic Acids (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Molecular analysis of HPRT deficiencies : An update of the spectrum of Asian mutations with novel mutations.2007
- Author(s)
  Yamada Y, et al.
- Journal Title
  
  Molecular Genetics and Metabolism 90
  
  Pages: 70-76
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.2007
- Author(s)
  Yamada Y, Nomura N, Yamada K, Wakamatsu N
- Journal Title
  
  Mol Genet Metab 90
  
  Pages: 70-76
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.2007
- Author(s)
  Ishida Y, Ishimaru A, Tauchi H, Yamaguchi A, Yokoyama M, Hiroi K, Wakamatsu N, Yamada Y
- Journal Title
  
  Eur J Pediatr (Epub ahead of print)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] HPRT 欠損症の遺伝子解析:新たな6変異とアジア人変異の総括.2007
- Author(s)
  山田裕一,野村紀子,若松延昭
- Journal Title
  
  痛風と核酸代謝 31(1)
  
  Pages: 31-40
- NAID
  10019737160
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] HPRT欠損症の遺伝子解析:新たな6変異とアジア人変異の総括.2007
- Author(s)
  山田裕一, 野村紀子, 若松延昭
- Journal Title
  
  痛風と核酸代謝 31
  
  Pages: 31-40
- NAID
  10019737160
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] 見えない染色体異常-染色体構築と分配機構の異常による先天性疾患2007
- Author(s)
  小野教夫, 木村礼子, 山田憲一郎, 若松延昭
- Journal Title
  
  実験医学 25
  
  Pages: 776-781
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Molecular analysis of HPRT deficiencies : An update of the spectrum of Asian mutations with novel mutations2007
- Author(s)
  Yamada Y, et al.
- Journal Title
  
  Molecular Genetics and Metabolism 90・1
  
  Pages: 70-76
- Data Source
  KAKENHI-PROJECT-17790087
[Journal Article] Two cases of partial trisomy 21 (pter-q22. 1) without the major features of Down syndrome.2006
- Author(s)
  Kondo Y, Mizuno S, Ohara K, Nakamura T, Yamada K, Yamamori S, Hayakawa C, Ishii T, Yamada Y, Wakamatsu N
- Journal Title
  
  Am J Med Genet 140A
  
  Pages: 227-232
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.2004
- Author(s)
  Ishihara N, Yamada K.Yamada Y, Wakamatsu N, et al.
- Journal Title
  
  Journal of Medical Genetics 41
  
  Pages: 387-393
- Data Source
  KAKENHI-PROJECT-15790067
[Journal Article] Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) inAsian HPRT deficient families.2004
- Author(s)
  Yamada Y, Yamada K, Sonta S, Wakamatsu N, Ogasawara N.
- Journal Title
  
  Nucleosides Nucleotides and Nucleic Acid 8&9
  
  Pages: 1173-1176
- Data Source
  KAKENHI-PROJECT-15790067
[Journal Article] Disruption in the hypoxanthine phosphoribosyltransferase gene caused by translocation in a patient with Lesch-Nyhan syndrome.2004
- Author(s)
  Mizunuma M, Yamada Y, Yamada K. Wakamatsu N, et al.
- Journal Title
  
  Nucleosides Nucleotides and Nucleic Acid 8&9
  
  Pages: 1169-1172
- Data Source
  KAKENHI-PROJECT-15790067
[Journal Article] Content of purine nucleotides, nucleosides, and bases in purine-rich cauliflower.
- Author(s)
  Yamaoka N, Kaneko K, Kudo Y, Aoki M, Yasuda M, Mawatari K, Nakagomi K, Yamada Y, Yamamoto T
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids 29(in press)
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation.
- Author(s)
  Yamada K, Fukushi D, Ono T, Kondo Y1 Kimura R, Nomura N, Kosaki K, Yamada Y, Mizuno S, Wakamatsu N
- Journal Title
  
  Am J Med Genet A (in press)
- Data Source
  KAKENHI-PROJECT-18390305
[Journal Article] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
- Author(s)
  Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Tomida S, Naiki M, Wakamatsu N
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids 29(in press)
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Mowat-Wilson症候群169例の解析により明らかになった多彩な疾患原因2020
- Author(s)
  林　深, 鈴木康予, 野村紀子, 福士大輔, 山田憲一郎, 稲葉美枝, 水野誠司
- Organizer
  第123回日本小児科学会学術集会（オンデマンド・ウェブ配信）
- Data Source
  KAKENHI-PROJECT-19K09062
[Presentation] 疾患モデル動物を用いたSLC19A3欠損症の病態解明と治療薬の検索2019
- Author(s)
  若松延昭, 千葉陽一, 河内真知, 加藤君子, 野村紀子, 上野正樹, 山田憲一郎
- Organizer
  日本ビタミン学会第71回大会（鳥取）2019.6.8.
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] 大脳皮質神経細胞移動におけるSADキナーゼの役割2019
- Author(s)
  中西圭子, 丹伊田浩行,　田畑秀典,　城村由和,　植田高史,　山田憲一郎,　永田浩一,　若松延昭, 岸将史,　鵜川眞也,　島田昌一,　東雄二郎, 中西真
- Organizer
  第42回日本神経科学大会/第62回神経化学会大会合同大会（新潟）2019.7.26.
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] Thiamine restriction induces thalamic neurodegeneration in Slc19a3-deficient mice.2018
- Author(s)
  Suzuki K, Yamada K, Tsuji A, Shibata K, Wakamatsu N
- Organizer
  第41回日本神経科学大会
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] 症状が異なるXq27.1q28欠失の2女児例のX染色体不活性化解析.2018
- Author(s)
  加藤君子, 相場佳織, 福士大輔, 鈴木康予, 山田憲一郎, 若松延昭
- Organizer
  第91回日本生化学会大会
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] 疾患モデルマウスを用いたSLC19A3欠損症の初期脳病態の解明.2018
- Author(s)
  山田憲一郎, 千葉陽一, 河内真知, 加藤君子, 野村紀子, 上野正樹, 若松延昭
- Organizer
  第91回日本生化学会大会
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] パーキンソン病の新規GBA変異の同定と患者由来リンパ芽球の機能解析．2018
- Author(s)
  鈴木康予、近田彩香、加藤君子、山田憲一郎、福士大輔、石浦浩之、出口一志、三井純、辻　省次、若松延昭
- Organizer
  第42回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] チアミンとビオチン併用療法を行ったBiotin-responsive Basal Ganglia Diseaseの1例.2017
- Author(s)
  友松典子, 榊原崇文, 山田憲一郎, 若松延昭, 嶋緑倫
- Organizer
  第120回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.2017
- Author(s)
  Fukushi D, Kurosawa K, Suzuki Y, Suzuki K, Yamada K, Watanabe S, Yokochi K, Wakamatsu N
- Organizer
  日本人類遺伝学会第62回大会（神戸）
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] バリン代謝異常症の病態解明と治療へのアプローチ.2017
- Author(s)
  山田憲一郎
- Organizer
  発達障害研究所公開セミナー2017
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] Two female patients with Xq27.3q28 deletion and skewed X-inactivation display similar phenotypes as Hunter syndrome.2017
- Author(s)
  Katoh K, Aiba K, Fukushi D, Suzuki Y, Yamada K, Wakamatsu N
- Organizer
  XXIII World Congress of Neurology (WCN 2017) (Kyoto, Japan)
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] モデルマウスを用いたSLC19A3欠損症の病態解明とチアミン治療の検証.2017
- Author(s)
  山田憲一郎, 鈴木香, 福原弥生, 辻愛, 柴田克己, 若松延昭
- Organizer
  2017年度生命化学系学会合同年次大会 ConBio2017
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] メトホルミンがPIK3CA-related overgrowth spectrum（PROS）患者由来細胞におよぼす治療効果.2017
- Author(s)
  鈴木康予, 榎戸靖, 山田憲一郎, 稲葉美枝, 花田直樹, 森下剛, 水野誠司, 若松延昭
- Organizer
  2017年度生命科学系学会合同年次大会 ConBio2017
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] モデルマウスを用いたSLC19A3欠損症の病態解明とチアミン治療の検証.2017
- Author(s)
  山田憲一郎、鈴木香、福原弥生、辻　愛、柴田克己、若松延昭
- Organizer
  2017年度生命化学系学会合同年次大会 ConBio2017（神戸）
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.2017
- Author(s)
  Fukushi D, Kurosawa K, Suzuki Y, Suzuki K, Yamada K, Watanabe S, Yokochi K, Wakamatsu N
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] 疾患モデルマウスを用いたチアミントランスポーター（SLC19A3）欠損症の病態解明.2017
- Author(s)
  若松延昭, 鈴木香, 辻愛,柴田克己, 山田憲一郎
- Organizer
  平成29年度香川県医学会
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] メトホルミンがPIK3CA-related overgrowth spectrum（PROS）患者由来細胞におよぼす治療効果.2017
- Author(s)
  鈴木康予、榎戸　靖、山田憲一郎、稲葉美枝、花田直樹、森下　剛、水野誠司、若松延昭
- Organizer
  2017年度生命科学系学会合同年次大会 ConBio2017（神戸）
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] チアミンとビオチン併用療法を行ったBiotin-responsive Basal Ganglia Diseaseの1例.2017
- Author(s)
  友松典子、榊原崇文、山田憲一郎、若松延昭、嶋緑倫
- Organizer
  第120回日本小児科学会学術集会（東京）
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] Two female patients with Xq27.3q28 deletion and skewed X-inactivation display similar phenotypes as Hunter syndrome.2017
- Author(s)
  Katoh K, Aiba K, Fukushi D, Suzuki Y, Yamada K, Wakamatsu N
- Organizer
  XXIII World Congress of Neurology (WCN 2017)
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] 疾患モデルマウスを用いたチアミントランスポーター（SLC19A3）欠損症の病態解明.2017
- Author(s)
  若松延昭、鈴木香、辻愛、柴田克己、山田憲一郎
- Organizer
  平成29年度香川県医学会（観音寺）
- Data Source
  KAKENHI-PROJECT-17K10070
[Presentation] バリン代謝異常症の病態解明と診断及び治療戦略.2016
- Author(s)
  山田憲一郎
- Organizer
  日本薬学会　東海支部　特別講演会
- Place of Presentation
  名古屋
- Year and Date
  2016-01-15
- Invited
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] SF3B4の欠失が見られるNager症候群の1症例.2015
- Author(s)
  福士大輔, 水野誠司, 稲葉美枝, 鈴木香, 野村紀子, 鈴木康予, 山田憲一郎, 若松延昭
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  東京
- Year and Date
  2015-10-16
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] Clinical and biochemical characterization of patients with HIBCH deficiency.2015
- Author(s)
  Wakamatsu N, Yamada K, Naiki M, Hoshino S, Kitaura Y, Kondo Y, Nomura N, Kimura R, Fukushi D, Yamada Y, Shimozawa N, Yamaguchi S, Shimomura Y, Miura K
- Organizer
  第56回日本神経学会学術大会
- Place of Presentation
  新潟
- Year and Date
  2015-05-20
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] 著しい下肢の過成長と部分的皮下脂肪組織の増殖を呈するPROS（PIK3CA-related Overgrowth Spectrum）の1例.2015
- Author(s)
  水野誠司, 榎戸靖, 森下剛, 花田直樹, 山田憲一郎, 若松延昭
- Organizer
  第55回日本先天異常学会
- Place of Presentation
  横浜
- Year and Date
  2015-07-25
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] Leigh disease and the valine pathway.2015
- Author(s)
  Pitt J, Peters H, Yaplito-Lee J, Boneh A, Ferdinandusse S, Ruiter J, Wanders RJA, Kok F, Boy R, Korman SH, Fitzsimons PE, Crushell E, Hughes J, Yamaguchi S, Goto Y, Wakamatsu N, Yamada K, Yokochi K, Chen BC, Ngu LH
- Organizer
  Annual Symposium 2015, Society for the Study of Inborn Errors of Metabolism
- Place of Presentation
  Lyon, France
- Year and Date
  2015-09-04
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] PIK3CA-related overgrowth spectrum (PROS)の1症例.2015
- Author(s)
  鈴木康予, 水野誠司, 榎戸　靖, 山田憲一郎, 稲葉美枝, 村松友佳子, 花田直樹, 森下剛, 若松延昭
- Organizer
  第27回日本整形外科学会骨系統疾患研究会
- Place of Presentation
  岐阜
- Year and Date
  2015-12-05
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] SF3B4の欠失が見られるNager症候群の1症例.2015
- Author(s)
  福士大輔, 水野誠司, 稲葉美枝, 鈴木　香, 野村紀子, 鈴木康予, 山田憲一郎, 若松延昭
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  東京
- Year and Date
  2015-10-16
- Data Source
  KAKENHI-PROJECT-25461576
[Presentation] Biotin-Responsive Basal Ganglia Disease(BBGD)と診断した幼児例.2015
- Author(s)
  榊原崇文, 高木久美子, 越智聡史, 竹下佳弘, 山田憲一郎, 若松延昭, 嶋緑倫
- Organizer
  第58回日本小児神経学会近畿地方会
- Place of Presentation
  大阪
- Year and Date
  2015-10-24
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] PIK3CA-related overgrowth spectrum（PROS）の1症例2015
- Author(s)
  鈴木康予，榎戸靖，山田憲一郎，若松延昭，水野誠司，花田直樹，森下剛
- Organizer
  第103回東海臨床遺伝・代謝懇話会
- Place of Presentation
  名古屋
- Year and Date
  2015-06-30
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] 軽症Short-chain enoyl-CoA hydratase (ECHS1)欠損症の生化学的解析：診断に有効な化合物の同定2015
- Author(s)
  若松延昭、山田憲一郎、北浦靖之、近藤雄介、野村紀子、村山圭、山口清次、下村吉治、横地健治、James Pitt
- Organizer
  第5７回日本先天代謝異常学会総会
- Place of Presentation
  大阪国際会議場
- Year and Date
  2015-11-12
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] PIK3CA-related overgrowth spectrum (PROS)の病態解明.2015
- Author(s)
  鈴木康予, 榎戸靖, 山田憲一郎, 花田直樹, 森下剛, 水野誠司, 若松延昭
- Organizer
  第88回日本生化学会大会、第38回日本分子生物学会年会　合同大会
- Place of Presentation
  神戸
- Year and Date
  2015-12-03
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] ヒトECHS1の生化学的解析と軽症型ECHS1欠損症の病態解明2015
- Author(s)
  山田憲一郎、相場佳織、北浦靖之、近藤雄介、野村紀子、中村勇治、福士大輔、村山圭、下村吉治、James Pitt、山口清次、横地健治、若松延昭
- Organizer
  第88回日本生化学会大会、第38回日本分子生物学会年会　合同大会
- Place of Presentation
  神戸
- Year and Date
  2015-12-03
- Data Source
  KAKENHI-PROJECT-15K09610
[Presentation] 家族性Xq28重複症候群の染色体重複機構の解明2014
- Author(s)
  福士大輔、山田憲一郎、野村紀子ら
- Organizer
  日本人類遺伝学会第59回大会・日本遺伝子診療学会第21回大会
- Place of Presentation
  東京
- Year and Date
  2014-11-22
- Data Source
  KAKENHI-PROJECT-25461576
[Presentation] HIBCH (3-hydroxyisobutyryl- CoA hydrolase) 欠損症の姉妹例．2014
- Author(s)
  山田憲一郎，内木美沙子，星野　伸，野村紀子，木村礼子，福士大輔，山田裕一，三浦清邦，若松延昭
- Organizer
  東海臨床遺伝・代謝懇話会
- Place of Presentation
  安保ホール、名古屋
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] 若年発症の高尿酸血症・痛風により判明したLesch-Nyhan-variantの一家系症例.2013
- Author(s)
  松田安史, 岸慎治, 山内高弘, 古田明, 上田孝典, 山田裕一, 三澤美和, 江川克哉, 中村真希子, 市田公美
- Organizer
  日本痛風・核酸代謝学会
- Place of Presentation
  東京
- Year and Date
  2013-02-15
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] COACH 症候群（JS-H: Joubert syndrome with hepatic disease）の双胎同胞例．2013
- Author(s)
  水野誠司，橋本真帆，菱川容子，木村礼子，山田憲一郎，山田裕一，若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  江陽グランドホテル、仙台
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.2013
- Author(s)
  Yamada Y, Nomura N, Yamano A, Yamada K, Kimura R, Fukushi D, Hasegawa H1, Nakamura, Ichida K, Wakamatsu N
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Boston Convention & Exhibition Center, Boston, USA
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] HPRT欠損症の原因となる新たなHPRTl遺伝子変異2013
- Author(s)
  山田裕一, 若松延昭
- Organizer
  日本痛風・核酸代謝学会
- Place of Presentation
  東京
- Year and Date
  2013-02-15
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 重度型MBTPS2異常症 (BRESEK/BRESHECK症候群)の病態解明2013
- Author(s)
  山田憲一郎,水野誠司,中西圭子,野村紀子,山田裕一,若松延昭
- Organizer
  東海臨床遺伝・代謝懇話会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] 末梢神経障害と副甲状腺機能低下症を伴ったミトコンドリア三頭酵素(MTP)欠損症.2013
- Author(s)
  内木美紗子, 越知信彦, 加藤有介, Jamiyan Purevsuren, 山田憲一郎, 原紳也, 木村礼子, 山田裕一, 熊谷俊幸, 山口清次, 若松延昭
- Organizer
  東海臨床遺伝・代謝懇話会
- Place of Presentation
  名古屋
- Year and Date
  2013-02-12
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 重度型MBTPS2異常症 (BRESEK/BRESHECK症候群)の病態解明2013
- Author(s)
  山田憲一郎，水野誠司，中西圭子，野村紀子，山田裕一，若松延昭
- Organizer
  東海臨床遺伝・代謝懇話会
- Place of Presentation
  安保ホール、名古屋
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] Mowat-Wilson症候群の遺伝子解析：新たなZEB2遺伝子変異．2013
- Author(s)
  山田裕一，野村紀子，山田憲一郎，木村礼子，福士大輔，水野誠司，清水健司，松尾真理，斎藤加代子，若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  江陽グランドホテル、仙台
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] HPRT欠損症の原因となる新たなHPRT1遺伝子変異．2013
- Author(s)
  山田裕一
- Organizer
  日本痛風・核酸代謝学会
- Place of Presentation
  京王プラザホテル（東京）
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 海馬初代培養神経細胞を用いたMBTPS2変異により発症する重度知的障害の病態解明2013
- Author(s)
  山田憲一郎,福原弥生,中西圭子,水野誠司,山田裕一,若松延昭
- Organizer
  日本生化学会大会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] The pathogenic mechanism of severe intellectual disability caused by MBTPS2 deficiency (BRESHECK/IFAP syndrome).2013
- Author(s)
  Yamada K, Fukuhara Y, Mizuno S, Nakanishi K, Nomura N, Yamada Y, Wakamatsu N
- Organizer
  The Asian Congress for Inherited Metabolic Disease (ACIMD) and The Annual Meeting of The Japanese Society for Inherited Metabolic Disease (JSIMD).
- Place of Presentation
  Tokyo Bay Maihama Hotel Club Resort, Chiba, Japan
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] The pathogenic mechanism of severe intellectual disability caused by MBTPS2 deficiency (BRESHECK/IFAP syndrome)2013
- Author(s)
  Yamada K, Fukuhara Y, Mizuno S, Nakanishi K, Nomura N, Yamada Y, Wakamatsu N
- Organizer
  The Asian Congress for Inherited Metabolic Disease (ACIMD) and The Annual Meeting of The Japanese Society for Inherited Metabolic Disease (JSIMD)
- Place of Presentation
  浦安
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] HPRT欠損症：新たな日本人家系のHPRT1変異とPRPP濃度2013
- Author(s)
  山田裕一，野村紀子，山農亜里佐，山田憲一郎，木村礼子，福士大輔，長谷川弘，中村真希子，市田公美，若松延昭
- Organizer
  日本生化学会大会
- Place of Presentation
  パシフィコ横浜、横浜
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.2013
- Author(s)
  Yamada K, Naiki M, Ochi N, Kato YS, Purevsuren J, Kimura R, Fukushi, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Boston Convention & Exhibition Center, Boston, USA
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] 海馬初代培養神経細胞を用いたMBTPS2変異により発症する重度知的障害の病態解明2013
- Author(s)
  山田憲一郎，福原弥生，中西圭子，水野誠司，山田裕一，若松延昭
- Organizer
  日本生化学会大会
- Place of Presentation
  パシフィコ横浜、横浜
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] Variability in the level of erythrocyte glucose uptake in two patients of Glut1 deficiency syndrome with the same SLC2A1 mutation.2013
- Author(s)
  Ishihara N, Natsume J, Yanagihara K, Fukuhara Y, Yamada K, Yamada Y, Azuma Y, Negoro T, Wakamatsu N, Watanabe K
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Boston Convention & Exhibition Center, Boston, USA
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] BRESEK/BRESHECK症候群の原因遺伝子 (MBTPS2)の脳発達における機能解析．2012
- Author(s)
  山田憲一郎
- Organizer
  日本生化学会大会
- Place of Presentation
  福岡国際会議場（福岡）
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 赤血球中ホスホリボシルピロリン酸のLC-MS/MSを用いた直接定量2012
- Author(s)
  篠原佳彦, 野崎早弥子, 長谷川弘, 山田裕一, 市田公美
- Organizer
  日本薬学会年会
- Place of Presentation
  札幌
- Year and Date
  2012-03-30
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] HPRT遺伝子exonlを含む,広範囲の欠失を認めたLesch-Nyhan症候群の1家系例2012
- Author(s)
  谷口敦夫, 山田裕一, 関田千恵子, 川本学, 金子裕隆, 山中寿
- Organizer
  日本痛風・核酸代謝学会
- Place of Presentation
  東京
- Year and Date
  2012-02-18
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Molecular analysis of benign familial neonatal-infantile convulsion in a Japanese family.2012
- Author(s)
  Yamada Y
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  MOSCONE Center (San Francisco, USA)
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] BRESEK/BRESHECK症候群の病因遺伝子（MBTPS2）の脳発達おける機能解析2012
- Author(s)
  山田憲一郎、福原弥生、水野誠司、内木美沙子、木村礼子、山田裕一、中西圭子、若松延昭
- Organizer
  第85回日本生化学会大会 2012
- Place of Presentation
  福岡国際会議場・マリンメッセ福岡
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] BRESEK/BRESHECK syndrome and IFAP syndrome are allelic disorder caused by mutation in MBTPS2.2012
- Author(s)
  Mizuno S, Naiki M, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N
- Organizer
  European Human Genetics Conference 2012
- Place of Presentation
  Niirnberg, Germany
- Year and Date
  2012-06-24
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat一Wilson症候群の原因となる新たなZEB2遺伝子変異2012
- Author(s)
  山田裕一, 山田憲一郎, 福原弥生, 木村礼子, 福士大輔, 水野誠司, 黒澤健司, 岡本伸彦, 若松延昭
- Organizer
  日本生化学会大会
- Place of Presentation
  福岡
- Year and Date
  2012-12-16
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群の原因となる新たなZEB2遺伝子変異2012
- Author(s)
  山田裕一, 山田憲一郎, 福原弥生, 木村礼子, 福士大輔, 水野誠司, 黒澤健司, 岡本伸彦, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2012-10-26
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群の原因となる新たなZEB2遺伝子変異2012
- Author(s)
  山田裕一
- Organizer
  日本生化学会大会
- Place of Presentation
  福岡国際会議場（福岡）
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群の原因となる新たなZEB2遺伝子変異．2012
- Author(s)
  山田裕一
- Organizer
  日本人類遺伝学会
- Place of Presentation
  京王プラザホテル（東京）
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 異数性が見られる未知の知的障害の細胞遺伝学的解析.2012
- Author(s)
  福士大輔, 木村礼子, 山田憲一郎, 福原弥生, 内木美紗子, 石原尚子, 水野誠司, 熊谷俊幸, 山田裕一, 若松延昭
- Organizer
  (財)染色体学会
- Place of Presentation
  旭川
- Year and Date
  2012-10-06
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] BRESEK/BRESHECK症候群の原因遺伝子(MBTPS2)の脳発達における機能解析2012
- Author(s)
  山田憲一郎, 福原弥生, 水野誠司, 内木美沙子, 木村礼子, 山田裕一, 中西圭子, 若松延昭
- Organizer
  日本生化学会大会
- Place of Presentation
  福岡
- Year and Date
  2012-12-16
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 遺伝病診療 : HPRT欠伝子解析2012
- Author(s)
  山田裕一, 若松延昭
- Organizer
  シンポジウム1「核酸代謝の研究はいかに生命科学の発展に寄与したか」日本痛風・核酸代謝学会
- Place of Presentation
  奈良
- Year and Date
  2012-02-16
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] BRESEK/BRESHECK症候群の原因遺伝子 (MBTPS2)の脳発達における機能解析2012
- Author(s)
  山田憲一郎,福原弥生,水野誠司,内木美沙子,木村礼子,山田裕一,中西圭子,若松延昭
- Organizer
  日本生化学会大会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] Molecular analysis of benign familial neonatal-infantile convulsion in a Japanese family.2012
- Author(s)
  Yamada Y, Yamada K, Fukushi D, Miura K, Nomura N, Yamano A, Kumagai T, Wakamatsu N
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  San Francisco, USA
- Year and Date
  2012-11-09
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.2011
- Author(s)
  Yamada K, Miura K, Hara K, Suzuki M, Nakanishi K, Kumagai T, Ishihara N, Yamada Y, Kuwano R, Tsuji S, Wakamatsu N
- Organizer
  International Congress of Human Genetics and Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Montreal, Canada
- Year and Date
  2011-10-13
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Instrumental analysis of the urinary stone from the patient woth hyperuricemia.2011
- Author(s)
  Kaneko K, Yoshida N, Okazaki K, Yamanobe T, Hachisu H, Yamaoka N, Yasuda M, Ogata N, Yamada Y, Uchida S, Fujimori S
- Organizer
  14^<th> International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Tokyo
- Year and Date
  2011-02-20
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] HPRT遺伝子exon1を含む、広範囲の欠失を認めたLesch-Nyhan症候群の1家系例2011
- Author(s)
  谷口敦夫, 山田裕一, 関田千恵子, 川本学, 金子裕隆, 山中寿
- Organizer
  日本痛風・核酸代謝学会
- Place of Presentation
  東京
- Year and Date
  2011-02-18
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群におけるZEB2遺伝子解析2011
- Author(s)
  山田裕一, 山田憲一郎, 水野誠司, 西恵理子, 石原尚子, 今高城治, 鈴木由香, 鮫島希代子, 秋丸憲子, 松田圭子, 岡本伸彦, 平木洋子, 若松延昭
- Organizer
  日本人類遺伝学会/東アジア人類遺伝学会共同大会
- Place of Presentation
  千葉
- Year and Date
  2011-11-10
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Molecular analysis of the X-linked inborn errors of purine metabolism : HPRT1 and PRPS1 mutations.2011
- Author(s)
  Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Naiki M, Wakamatsu N, Taniguchi A, Kaneko K, Fujimori S
- Organizer
  14th International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Tokyo
- Year and Date
  2011-02-18
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 新生児・乳児期に発症する良性の家族性けいれんの遺伝子解析2011
- Author(s)
  山田裕一, 山田憲一郎, 三浦清邦, 野村紀子, 山農亜里佐, 熊谷俊幸, 若松延昭
- Organizer
  日本生化学会大会
- Place of Presentation
  京都
- Year and Date
  2011-09-22
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群の成長・発達における特性と課題2011
- Author(s)
  平木洋子, 山田裕一, 若松延昭
- Organizer
  日本小児神経学会
- Place of Presentation
  岡山
- Year and Date
  2011-07-23
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Molecular analysis of ZEB2 responsible for the Mowat-Wilson syndrome.2011
- Author(s)
  Yamada Y, Yamada K, Mizuno S, Nishi E, Ishihara N, Akimaru N, Urano M, Matsuda K, Okamoto N, Hiraki Y4, Wakamatsu N
- Organizer
  International Congress of Human Genetics and Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Montreal, Canada
- Year and Date
  2011-10-13
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 多様な臨床症状と脳MRI画像を呈するSLC19A3異常症2011
- Author(s)
  山田憲一郎, 三浦清邦, 原賢寿, 鈴木基正, 中西圭子, 熊谷俊幸, 石原尚子, 山田裕一, 桑野良三, 辻省次, 若松延昭
- Organizer
  東海臨床遺伝・代謝懇話会
- Place of Presentation
  名古屋
- Year and Date
  2011-02-01
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Hypoxanthine guanine phosphoribosyltranferase (HPRT) deficiencies in Asian population.2011
- Author(s)
  Yamada Y, Wakamatsu N, Taniguchi A, Fujimori S
- Organizer
  14th International Symposium on Purine and Pyrimidine Metabolism in Man, "Inborn errors of metabolism/Molecular mechanisms of disease"
- Place of Presentation
  Tokyo
- Year and Date
  2011-02-20
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Molecular analysis of the X-linked inborn errors of purine metabolism : HPRT1 and PRPS1 mutations.2011
- Author(s)
  Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Naiki M, Wakamatsu N, Taniguchi A, Kaneko K, Fujimori S
- Organizer
  14^<th> International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Tokyo
- Year and Date
  2011-02-19
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 運動ニューロン疾患の症状を呈する成人型Sandhoff病のP-hexosaminidase活性に対するpyrimethamine効果2011
- Author(s)
  山田憲一郎, 山田裕一, 若松延昭
- Organizer
  日本生化学会大会
- Place of Presentation
  京都
- Year and Date
  2011-09-22
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 運動ニューロン疾患を呈する成人型Sandhoff病のHex A活性に対するPyrimethamineの効果2011
- Author(s)
  山田憲一郎, 山田裕一, 野村紀子, 山農亜里佐, 若松延昭
- Organizer
  日本人類遺伝学会/東アジア人類遺伝学会共同大会
- Place of Presentation
  千葉
- Year and Date
  2011-11-10
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Molecular characterization of deletion in HPRT gene in a patient with Lesch-Nyhan syndrome.2011
- Author(s)
  Taniguchil A, Yamada Y, Hakota M, Sekita C, Kawamoto M, Kaneko H, Yamanaka H
- Organizer
  14^<th> International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Tokyo
- Year and Date
  2011-02-19
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Hypoxanthine guanine phosphoribosyltranferase (HPRT) deficiencies in Asian population.2011
- Author(s)
  Yamada Y, Wakamatsu N, Taniguchi A, Fujimori S
- Organizer
  14^<th> International Symposium on Purine and Pyrimidine Metabolism in Man, "Inborn errors of metabolism/Molecular mechanisms of disease"
- Place of Presentation
  Tokyo(招待講演)
- Year and Date
  2011-02-20
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations2011
- Author(s)
  K Yamada, K Miura, K Hara, M Suzuki, K, et al.
- Organizer
  12th International Congress of Human Genetics (ICHG) & 61st American Society of Human Genetics (ASHG) Annual Meeting.
- Place of Presentation
  Montreal (Quebec), Canada
- Data Source
  KAKENHI-PROJECT-23592636
[Presentation] Simultaneous determination of purine and pyrimidine metabolites in HPRT-deficient cell lines.2011
- Author(s)
  Yamaoka N, Inazawa K, Inagawa S, Fujimori S, Yasuda M, Mawatari K, Nakagomi K, Yamada Y, Kaneko K
- Organizer
  14^<th> International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Tokyo
- Year and Date
  2011-02-20
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Novel mutations of ZFHX1B responsible for the typical cases of Mowat-Wilson syndrome.2010
- Author(s)
  Yamada Y, Yamada K, Mizuno S, Furuya N, Matsuo M, Urano M, Hiraki Y, Kurosawa K, Saito K, Wakamatsu N
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Washington DC
- Year and Date
  2010-11-05
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群典型例におけるZFHXIB遺伝子変異2010
- Author(s)
  山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 黒澤健司, 斎藤加代子, 若松延昭
- Organizer
  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-21390319
[Presentation] 塩酸ジラゼプの細胞周期・フリーラジカル産生に及ぼす影響2010
- Author(s)
  山田晴生, 山田裕一, 足立哲夫, 今井裕一
- Organizer
  腎とフリーラジカル研究会
- Place of Presentation
  東京
- Year and Date
  2010-10-16
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Motor neuron diseaseの症状を呈する成人型Sandhoff病の病態解明2010
- Author(s)
  山田憲一郎, 高堂裕平, 山田裕一, 石黒英明, 若松延昭
- Organizer
  日本生化学会日本分子生物学会合同大会
- Place of Presentation
  神戸
- Year and Date
  2010-12-07
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] ダウン症候群小児における血清尿酸値の検討2010
- Author(s)
  村松友佳子, 西恵理子, 谷合弘子, 山田裕一, 若松延昭, 久保田優, 水野誠司
- Organizer
  日本小児遺伝学会学術集会
- Place of Presentation
  盛岡
- Year and Date
  2010-04-22
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 副甲状腺機能低下症と末梢神経障害を伴ったミトコンドリア三頭酵素(MTP)欠損症の病態解明2010
- Author(s)
  内木美紗子, 山田憲一郎, 山田裕一, 山農亜里佐, 木村礼子, 野村紀子, Purevsuren J, 熊谷俊幸, 山口清次, 若松延昭
- Organizer
  日本生化学会日本分子生物学会合同大会
- Place of Presentation
  神戸
- Year and Date
  2010-12-10
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 運動ニューロン疾患の症状を呈する成人型Sandhoff病の病態解明2010
- Author(s)
  山田憲一郎, 高堂裕平, 山田裕一,石黒英明, 若松延昭
- Organizer
  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-21390319
[Presentation] Mowat-Wilson症候群典型例におけるZFHX1B遺伝子変異2010
- Author(s)
  山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 黒澤健司, 斎藤加代子, 若松延昭
- Organizer
  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-21390319
[Presentation] Mowat-Wilson症候群典型例にみられた新しいZFHXIB遺伝子変異2010
- Author(s)
  山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 秋丸憲子, 松田圭子, 岡本伸彦, 黒澤健司, 斎藤加代子, 若松延昭
- Organizer
  日本生化学会日本分子生物学会合同大会
- Place of Presentation
  東京
- Year and Date
  2010-12-10
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] ダウン症候群における血清尿酸値の検討2010
- Author(s)
  村松友佳子, 山田裕一, 若松延昭, 久保田優
- Organizer
  日本痛風・核酸代謝学会
- Place of Presentation
  大阪
- Year and Date
  2010-02-25
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] ダウン症候群における血清尿酸値の検討2010
- Author(s)
  村松友佳子, 山田裕一, 若松延昭, 久保田優
- Organizer
  日本痛風・核酸代謝学会
- Place of Presentation
  大阪
- Year and Date
  2010-02-25
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] ダウン症候群における血清尿酸値の検討.2010
- Author(s)
  村松友佳子, 山田裕一, 若松延昭, ら
- Organizer
  日本痛風・核酸代謝学会
- Place of Presentation
  大阪
- Year and Date
  2010-02-25
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Novel mutations of ZFHX1B responsible for the typical cases of Mowat-Wilson syndrome.2010
- Author(s)
  YamadaY, Yamada K, Mizuno S, Furuya N, Matsuo M, Urano M, Hiraki Y, Kurosawa K, Saito K, Wakamatsu N
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Washington DC, USA
- Year and Date
  2010-11-05
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群典型例にみられた新しいZFHX1B遺伝子変異2010
- Author(s)
  山田裕一, 山田憲一郎, 水野誠司, 古谷憲孝, 松尾真理, 浦野真理, 平木洋子, 秋丸憲子, 松田圭子, 岡本伸彦, 黒澤健司, 斎藤加代子, 若松延超
- Organizer
  日本生化学会日本分子生物学会合同大会
- Place of Presentation
  神戸
- Year and Date
  2010-12-10
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Mowat-Wilson症候群の遺伝型と表現型の関連-自験例から2010
- Author(s)
  平木洋子, 坪倉ひふみ, 夜船展子, 土方希, 山根希代子, 田辺明男, 伊予田邦昭, 山田裕一, 若松延昭
- Organizer
  中国四国小児科学会
- Place of Presentation
  広島
- Year and Date
  2010-10-28
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Molecular analysis of two enzymes, HPRT and PRPP synthetase, causing X-linked inborn errors of purine metabolism.2009
- Author(s)
  Yamada Y, Yamada K, Yamano A, Nomura N, Wakamatsu N
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Honolulu, USA
- Year and Date
  2009-10-23
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Characterization of CHD 6 associate proteins at mitosis.2009
- Author(s)
  Yamada K, Fukushi D, Kimura R, Yamada Y, Wakamatsu N.
- Organizer
  日本分子生物学会年会
- Place of Presentation
  横浜
- Year and Date
  2009-12-09
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 血液透析患者におけるLDL結合型血清アミロイドA(SAA)蛋白の増加と栄養状態の関連.2009
- Author(s)
  山田晴生, 北川渡, 鈴木信吉, 河合浩寿, 岸泰子, 上村裕子, 木村行宏, 宮本敢右, 鈴木奈津子, 前田邦博1, 青山龍平, 山口諭, 鈴木啓介, 管憲広, 渡辺一司, 三浦直人, 西川和裕, 山村昌弘, 今井裕一, 足立哲夫, 山田裕一
- Organizer
  腎とフリーラジカル研究会
- Place of Presentation
  岡山
- Year and Date
  2009-09-26
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Characterization of CHD 6 associate proteins at mitosis2009
- Author(s)
  Yamada K, Yamada Y, Wakamatsu N, et al.
- Organizer
  日本分子生物学会年会
- Place of Presentation
  横浜
- Year and Date
  2009-12-09
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 先天性プリン代謝異常症に関わる2酵素(HPRT, PRPPS)の遺伝子解析.2009
- Author(s)
  山田裕一, 若松延昭
- Organizer
  日本痛風・核酸代謝学会
- Place of Presentation
  東京
- Year and Date
  2009-02-19
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] X連鎖性プリン代謝異常症に関わる2酵素遺伝子(HPRT1, PRPS1)の変異解析.2009
- Author(s)
  山田裕一, 山農亜里佐, 野村紀子, 木村礼子, 山田憲一郎, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2009-09-24
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Molecular analysis of two enzymes, HPRT and PRPP synthetase, causing X-linked inborn errors of purine metabolism.2009
- Author(s)
  Yamada Y, Yamada K, Yamano A, Nomura N, Wakamatsu N
- Organizer
  Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Honolulu. USA
- Year and Date
  2009-10-23
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.2009
- Author(s)
  Yamada Y, Nomura N, Yamano A, Yamada K, Wakamatsu N
- Organizer
  13th International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Stockholm, Sweden
- Year and Date
  2009-06-22
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Characterization of CHD 6 associate proteins at mitosis.2009
- Author(s)
  Yamada K, Fukushi D, Kimura R, YamadaY, Wakamatsu N
- Organizer
  日本分子生物学会年会
- Place of Presentation
  横浜
- Year and Date
  2009-12-09
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.2009
- Author(s)
  Yamada Y, Wakamatsu N, et al.
- Organizer
  13^<th> International Symposium on Purine and Pyrimidine Metabolism in Man.
- Place of Presentation
  Stockholm(Sweden)
- Year and Date
  2009-06-22
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 発達遅滞を主訴に来院した7か月男児の1例.2009
- Author(s)
  口脇賀治代, 阿部直紀, 沼田真一郎, 梶田光春, 吉田修一朗, 三浦清邦, 山田裕一, 若松延昭
- Organizer
  豊田加茂小児科医会例会
- Place of Presentation
  豊田
- Year and Date
  2009-02-14
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.2009
- Author(s)
  Yamada Y, Nomura N, Yamano A, Yamada K, Wakamatsu N
- Organizer
  13th International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Stockholm, Sweden
- Year and Date
  2009-06-22
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] X連鎖性プリン代謝異常症に関わる2酵素遺伝子(HPRT1, PRPS1)の変異解析2009
- Author(s)
  山田裕一, 若松延昭, ら
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2009-09-25
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析2009
- Author(s)
  内木美紗子, 山田憲一郎, 山田裕一, 木村礼子, 熊谷俊幸, 若松延昭
- Organizer
  日本生化学会大会
- Place of Presentation
  神戸
- Year and Date
  2009-10-24
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism2009
- Author(s)
  Yamada Y, Wakamatsu N, et al.
- Organizer
  13^<th> International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Stockholm(Sweden)
- Year and Date
  2009-06-22
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Lesch-Nyhan症候群の1例.2009
- Author(s)
  口脇賀治代, 阿部直紀, 沼田真一郎, 梶田光春, 吉田修一朗, 三浦清邦, 山田裕一, 若松延昭
- Organizer
  日本小児科学会東海地方会
- Place of Presentation
  名古屋
- Year and Date
  2009-02-22
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Contents of purine and pyrimidine nucleotides, nucleosides and bases in a purine-rich vegetable, a Cauliflower.2009
- Author(s)
  Yamaoka N, Kudo Y, Yasuda M, Mawatari K, Nakagomi K, Yamada Y, Yamamoto T, Kaneko K
- Organizer
  13th International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Stockholm, Sweden
- Year and Date
  2009-06-22
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析2009
- Author(s)
  内木美紗子, 山田裕一, 若松延昭, ら
- Organizer
  日本生化学会大会
- Place of Presentation
  東京
- Year and Date
  2009-10-24
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 先天性プリン代謝異常症に関わる2酵素(HPRT, PRPPS)の遺伝子解析2009
- Author(s)
  山田裕一, 若松延昭
- Organizer
  日本痛風・核酸代謝学会
- Place of Presentation
  東京
- Year and Date
  2009-02-19
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析2009
- Author(s)
  内木美紗子, 山田憲一郎, 山田裕一, 木村礼子, 熊谷俊幸, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2009-09-25
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 発達遅滞を主訴に来院した7か月男児の1例2009
- Author(s)
  口脇賀治代, 山田裕一, 若松延昭, ら
- Organizer
  豊田加茂小児科医会例会
- Place of Presentation
  豊田
- Year and Date
  2009-02-14
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析2009
- Author(s)
  内木美紗子, 山田憲一郎, 山田裕一, 木村礼子, 熊谷俊幸, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2009-09-25
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] Lesch-Nyhan 症候群の1例2009
- Author(s)
  口脇賀治代, 山田裕一, 若松延昭, ら
- Organizer
  日本小児科学会東海地方会
- Place of Presentation
  名古屋
- Year and Date
  2009-02-22
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析.2009
- Author(s)
  内木美紗子, 山田裕一, 若松延昭, ら
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2009-09-25
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] X連鎖性プリン代謝異常症に関わる2酵素遺伝子(HPRTl, PRPSl)の変異解析2009
- Author(s)
  山田裕一, 山農亜里佐, 野村紀子, 木村礼子, 山田憲一郎, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2009-09-24
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析.2009
- Author(s)
  内木美紗子, 山田裕一, 若松延昭, ら
- Organizer
  日本生化学会大会
- Place of Presentation
  東京
- Year and Date
  2009-10-24
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 末梢神経障害を伴った先天性副甲状腺機能低下症姉弟例の遺伝子解析.2009
- Author(s)
  内木美紗子, 山田憲一郎, 山田裕一, 木村礼子, 熊谷俊幸, 若松延昭
- Organizer
  日本生化学会大会(東京)
- Year and Date
  2009-10-24
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] X連鎖性プリン代謝異常症に関わる2酵素遺伝子(HPRT1,PRPS1)の変異解析.2009
- Author(s)
  山田裕一, 若松延昭, ら
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2009-09-25
- Data Source
  KAKENHI-PROJECT-21390319
[Presentation] 新生児・乳幼児に発症する良性の家族性けいれんの遺伝子解析.2008
- Author(s)
  山田裕一, 三浦清邦, 鈴木基正, 熊谷俊幸, 松本昭子, 野村紀子, 山農亜里佐, 山田憲一郎, 若松延昭
- Organizer
  日本生化学会日本分子生物学会合同大会
- Place of Presentation
  神戸
- Year and Date
  2008-12-09
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Lesch-Nyhan症候群の細胞診断の有用性について2008
- Author(s)
  谷口敦夫, 箱田雅之, 関田千恵子, 藤森新, 山田裕一, 浦野和子, 山中寿, 鎌谷直之
- Organizer
  日本痛風・核酸代謝学会総会
- Place of Presentation
  福井
- Year and Date
  2008-02-14
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 新生児・乳幼児に発症する良性の家族性けいれんの遺伝子解析2008
- Author(s)
  山田裕一, 若松延昭, ら
- Organizer
  日本人類遺伝学会
- Place of Presentation
  横浜
- Year and Date
  2008-09-29
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Identification and characterization of the duplicated genes in a family with Xq28 duplication syndrome2008
- Author(s)
  山田憲一郎, 山田裕一, 若松延昭, ら
- Organizer
  日本生化学会日本分子生物学会合同大会
- Place of Presentation
  神戸
- Year and Date
  2008-12-11
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 免疫抑制剤ミゾリビンの細胞周期・フリーラジカル産生に及ぼす影響.2008
- Author(s)
  山田晴生, 山田裕一, 若松延昭, 宮本敢右, 木村行宏, 鹿島悠佳理, 竹澤有美子, 前田邦博, 水野奈津子, 青山龍平, 森由貴, 若松亮, 山口諭, 管憲広, 渡辺一司, 北川渡, 三浦直人, 西川和裕, 普天間新生, 今井裕一
- Organizer
  腎とフリーラジカル研究会
- Place of Presentation
  大阪
- Year and Date
  2008-09-20
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 新生児・乳幼児に発症する良性の家族性けいれんの遺伝子変異解析2008
- Author(s)
  山田裕一, 三浦清邦, 鈴木基正, 熊谷俊幸, 松本昭子, 野村紀子, 山農亜里佐, 山田憲一郎, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  横浜
- Year and Date
  2008-09-29
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 新生児・乳幼児に発症する良性の家族性けいれんの遺伝子解析2008
- Author(s)
  山田裕一, 若松延昭, ら
- Organizer
  日本生化学会日本分子生物学会合同大会
- Place of Presentation
  神戸
- Year and Date
  2008-12-09
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Identification and characterization of the duplicated genes in a family with Xq28 duplication syndrome.2008
- Author(s)
  山田憲一郎, 福士大輔, 木村礼子, 山田裕一, 若松延昭
- Organizer
  日本生化学会日本分子生物学会合同大会
- Place of Presentation
  神戸
- Year and Date
  2008-12-11
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 免疫抑制剤ミゾリビンの細胞周期に及ぼす影響.2008
- Author(s)
  山田晴生, 山田裕一, 若松延昭, 宮本敢右, 木村行宏, 鹿島悠佳理, 竹澤有美子, 前田邦博, 水野奈津子, 青山龍平, 森由貴, 若松亮, 山口諭, 管憲広, 渡辺一司, 北川渡, 三浦直人, 西川和裕, 普天間新生, 今井裕一
- Organizer
  日本痛風・核酸代謝学会総会
- Place of Presentation
  福井
- Year and Date
  2008-02-14
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Mowat-Wilson 症候群の1例2008
- Author(s)
  平木洋子, 山田裕一, 若松延昭, ら
- Organizer
  日本小児神経学会中国・四国地方会
- Place of Presentation
  大阪
- Year and Date
  2008-07-26
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Mowat-Wilson症候群の1例.2008
- Author(s)
  平木洋子, 坪倉ひふみ, 夜船展子, 山田裕一, 若松延昭
- Organizer
  日本小児神経学会中国・四国地方会
- Place of Presentation
  岡山
- Year and Date
  2008-07-26
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 免疫抑制剤ミゾリビンの細胞周期・フリーラジカル産生に及ぼす影響2008
- Author(s)
  山田晴生, 山田裕一, 若松延昭, ら
- Organizer
  腎とフリーラジカル研究会
- Place of Presentation
  大阪
- Year and Date
  2008-09-20
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Molecular analysis of HPRT deficiencies: novel mutations and the spectrum of Japanese mutations.2007
- Author(s)
  Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S
- Organizer
  Pre-symposium: Lesch-Nyhan Disease Research Foundation
- Place of Presentation
  Chicago, USA
- Year and Date
  2007-06-24
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 乳児期におけるLesch-Nyhan症候群の発達について.2007
- Author(s)
  小沢浩, 有本潔, 実谷哲史, 久保田雅也, 山田裕一
- Organizer
  日本小児神経学会総会
- Place of Presentation
  大阪
- Year and Date
  2007-07-07
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 血液透析・CAPD療法中Extracellular-Superoxide Dismutase産生の誘導.2007
- Author(s)
  山田晴生, 足立哲夫, 山田裕一, 若松亮, 鹿島悠佳里, 竹澤有美子, 前田邦博, 水野奈津子, 青山龍平, 吉野雅文, 森由貴, 渡辺一司, 北川渡, 三浦直人, 佐久間正人, 西川和裕, 普天間新生, 今井裕一
- Organizer
  日本腎臓学会学術総会
- Place of Presentation
  浜松
- Year and Date
  2007-05-25
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Molecular analysis of hypoxanthine guanine phosphoribosyltransferase(HPRT)deficiencies : novel mutations and the spectrum of Japanese mutations.2007
- Author(s)
  Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S
- Organizer
  12thInternational Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Chicago,USA
- Year and Date
  2007-06-26
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] プリン代謝系酵素の酵素化学的研究および遺伝子解析(学会賞受賞講演).2007
- Author(s)
  山田裕一
- Organizer
  日本痛風・核酸代謝学会
- Place of Presentation
  東京
- Year and Date
  2007-02-15
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Extracellular superoxide dismutase production from dialysis fluid in peritomeal dialysis and culture fibroblast under tochoferol exposure.2007
- Author(s)
  Yamada H, Adachi T, Yamada Y, Kimura Y, Miyamoto K, Aoyama R, Kashima Y, Takezawa Y, Maeda K, Mizuno N, Yoshino M, Wakamatsu R, Mori Y, Yamaguchi S, Suga N, Watanabe H, Kitagawa W, Miura N, Nishikawa K, Futenma A, Imai H
- Organizer
  The Asian Chapter Meeting of International Society for Peritoneal Dialysis
- Place of Presentation
  Hiroshima
- Year and Date
  2007-11-23
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] HPRT欠損症における遺伝子解析:新遺伝子変異と日本人変異の総括.2007
- Author(s)
  山田裕一, 野村紀子, 山田憲一郎, 若松延昭, 金子希代子, 藤森新:
- Organizer
  日本分子生物学会年会/日本生化学会大会合同大会
- Place of Presentation
  横浜
- Year and Date
  2007-12-13
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Sandhoff病の一例.2007
- Author(s)
  阿部直紀, 口脇賀治代, 吉田修一朗, 石原尚子, 中西久美子, 梶田光春, 東慶輝, 山田憲一郎, 山田裕一, 若松延昭
- Organizer
  日本小児科学会東海地方会
- Place of Presentation
  名古屋
- Year and Date
  2007-08-05
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Disorders in chromosome assembly: new chromosomal aberrations associated with human congenital diseases.2007
- Author(s)
  Ono T, Kimura R, Yamada K, Sonta S, Wakamatsu N
- Organizer
  The International Symposium on Chromosomal Aberrations
- Place of Presentation
  Awaji
- Year and Date
  2007-10-05
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 培養平滑筋細胞・メサンギウム細胞のExtracellular-Superoxide Dismutase産生.2007
- Author(s)
  山田晴生, 足立哲夫, 山田裕一, 宮本敢右, 木村行宏, 鹿島悠佳理, 竹澤有美子, 前田邦博, 水野奈津子, 森由貴, 青山龍平, 吉野雅人, 若松亮, 山口諭, 管憲広, 渡辺一司, 北川渡, 三浦直人, 西川和裕, 普天間新生, 今井裕一
- Organizer
  腎とフリーラジカル研究会
- Place of Presentation
  浜松
- Year and Date
  2007-09-29
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 新生児・乳児期に発症する良性の家族性けいれんの遺伝子解析.2007
- Author(s)
  山田裕一, 野村紀子, 山田憲一郎, 三浦清邦, 熊谷俊幸, 松本昭子, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2007-09-13
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.2007
- Author(s)
  Yamada Y, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S
- Organizer
  12th International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Chicago, USA
- Year and Date
  2007-06-26
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 精神発達遅滞を伴ったChar症候群.2007
- Author(s)
  平林優, 水野誠司, 山田憲一郎, 福士大輔, 木村礼子, 中田智彦, 鈴木基正, 熊谷俊幸, 山田裕一, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2007-09-13
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] CHD proteins are associated with chromatin assembly.2007
- Author(s)
  山田憲一郎, 小野教夫, 近藤容子, 木村礼子, 野村紀子, 小崎健次郎, 山田裕一, 水野誠司, 若松延昭
- Organizer
  日本分子生物学会年会/日本生化学会大会合同大会
- Place of Presentation
  横浜
- Year and Date
  2007-12-12
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] レット症候群様症状を伴いサブテロメア染色体異常を呈した一男児例2006
- Author(s)
  渡邊淳, 桑原健太郎, 右田真, 渡辺裕子, 藤野修, 山田裕一, 島田隆
- Organizer
  日本小児遺伝学会
- Place of Presentation
  米子
- Year and Date
  2006-10-21
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] HPRT欠損症の遺伝子解析:新たな6変異とアジア人変異の総括.2006
- Author(s)
  山田裕一, 野村紀子, 山田憲一郎, 渡辺浩史, 加治正行, 石田也寸志, 安達昌功, 若松延昭
- Organizer
  日本人類遺伝学会
- Place of Presentation
  米子
- Year and Date
  2006-10-18
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Molecular analysis of HPRT deficiencies: six novel mutations and the spectrum of Asian mutations.2006
- Author(s)
  Yamada Y, Nomura N, Yamada K, Wakamatsu N
- Organizer
  IUBMB International Congress of Biochemistry and Molecular Biology
- Place of Presentation
  Kyoto
- Year and Date
  2006-06-21
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 腹腔内Extracellular-superoxide dismutase産生の誘導.2006
- Author(s)
  山田晴生, 足立哲夫, 山田裕一, 尾関教生, 山口諭, 管憲広, 鈴木啓介, 渡辺一司, 北川渡, 三浦直人, 佐久間正人, 西川和裕, 普天間新生, 今井裕一
- Organizer
  腎とフリーラジカル研究会
- Place of Presentation
  つくば
- Year and Date
  2006-09-23
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 特異な臨床症状を呈する2q37. 3微細欠失の一例.2006
- Author(s)
  水野誠司, 林深, 井本逸勢, 小野教夫, 山田憲一郎, 山田裕一, 若松延昭, 稲津譲治
- Organizer
  日本人類遺伝学会
- Place of Presentation
  米子
- Year and Date
  2006-10-18
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] 遺伝性低尿酸血症の臨床経過と遺伝子解析.2006
- Author(s)
  山田晴生, 山田裕一, 市田公美, 森由貴, 青山龍一, 吉野雅文, 鈴木啓介, 渡辺一司, 北川渡, 三浦直人, 佐久間正人, 西川和裕, 今井裕一
- Organizer
  日本腎臓学会学術総会
- Place of Presentation
  東京
- Year and Date
  2006-06-15
- Data Source
  KAKENHI-PROJECT-18390305
[Presentation] Sip1 plays an important role in neurite extensions of embryonic neurons.2006
- Author(s)
  Yamada K, Nakanishi, Ishihara N, Nomura N, Yamada Y, Oohira A, Wakamatsu N
- Organizer
  IUBMB International Congress of Biochemistry and Molecular Biology
- Place of Presentation
  Kyoto
- Year and Date
  2006-06-20
- Data Source
  KAKENHI-PROJECT-18390305
[]

1. WAKAMATSU Nobuaki (60274198)

# of Collaborated Projects: 6 results

# of Collaborated Products: 140 results
2. YAMADA Yasukazu (70191343)

# of Collaborated Projects: 6 results

# of Collaborated Products: 176 results
3. MIZUNO Seiji (20393150)

# of Collaborated Projects: 1 results

# of Collaborated Products: 19 results
4. Fukushi Daisuke (90397159)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
5. 武藤宣博 (70190858)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 鬼頭浩史 (40291174)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. 野村紀子 (00393132)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
8. 千葉陽一 (30372113)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
9. MIURA Kiyokuni

# of Collaborated Projects: 1 results

# of Collaborated Products: 16 results
10. KUMAGAI Tosiyuki

# of Collaborated Projects: 1 results

# of Collaborated Products: 6 results
11. 中川千玲

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. YAMADA Kenji

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. 山口清次

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

YAMADA Kenichirou 山田 憲一郎

山田 憲一郎 ヤマダ ケンイチロウ

YAMADA Kenichiro 山田 憲一郎

Research Projects

Research Products

Co-Researchers

Identification of novel causal genes in patients clinically diagnosed with Mowat-Wilson syndrome presenting Hirschsprung diseasePrincipal Investigator

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The treatment strategy for HIBCH deficiency targeting mitochondrial dysfunctionPrincipal Investigator

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MBTPS2 mutation causes BRESEK/BRESHECK syndromePrincipal Investigator

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重度知的障害の染色体転座部位に局在するPLEKHA5の機能解析Principal Investigator

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二本鎖RNAを用いたSmad結合タンパク1(Sip1)の核内シグナル伝達の解明Principal Investigator

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[Book] ZEB2 （関連疾患：Mowat-Wilson症候群）. 小児科診療.2021

Author(s)

Total Pages

Publisher

YAMADA Kenichirou 山田憲一郎

山田憲一郎ヤマダケンイチロウ

YAMADA Kenichiro 山田憲一郎

[Book] 先天代謝異常ハンドブック，II各論, 12章プリン・ピリミジン代謝異常，遠藤文雄編2013

[Book] 別冊　新領域別症候群シリーズ No.19「先天代謝異常症候群（第２版）-病因・病態研究．診断治療の進歩-」（上）ヒポキサンチン-グアニンホスホリボシルトランスフェラーゼ欠損症．2012

[Book] ヒポキサンチンーグアニンホスホリボシルトランスフェラーゼ欠損症.別冊日本臨床新領域別症候群シリーズNo.19「先天代謝異常症候群(第2版)-病因・病態研究.診断治療の進歩-」(上)2012