YAMADA Yasukazu 山田裕一

… Alternative Names

YAMADA Yasugazu 山田裕一

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Researcher Number	70191343
Other IDs
External Links
Affiliation (based on the past Project Information) *help	2015: 愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 室長 2014: 愛知県心身障害者コロニー発達障害研究所, その他部局等, その他 2000 – 2013: Department of Genetics, Institute for Developmental Disease. Aichi Human Service Center, 遺伝学部, 室長 2012: 愛知県心身障害者コロニー発達障害研究所, 遺伝子学部, 室長 2009: 愛知県心身障害者コロニー発逹障害研究所, 遺伝学部, 室長 … More 2003 – 2004: 愛知県心身障害者コロニー・発達障害研, 究所・遺伝学部, 室長 1999: 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 1993 – 1995: 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 Less
Review Section/Research Field	Principal Investigator Psychiatric science / Human genetics Except Principal Investigator Pediatrics / Obstetrics and gynecology / Pathological medical chemistry / Neurology / Embryonic/Neonatal medicine / Biological Sciences
Keywords	Principal Investigator PCR / 変異 / DNA sequence / AMP deaminase / 遺伝子変異 / BAC clones / chromosome 2 / mutation / Southern analysis / FISH … More / pericentric inversion / autism / BACクローン / 2番染色体 / PCR法 / サザン解析 / FISH法 / 染色体逆位 / 自閉症 / Erythrocyte / Screening / Mutation / Gene / Deficiency / スクリーニング / AMPデアミネース / 赤血球 / 遺伝子スクリーニング / 遺伝子 / 酵素欠損 / 遺伝子診断 / 連鎖 / ナトリウムチャネル / 良性けいれん / 臨床精神分子遺伝学 … More Except Principal Investigator 知的障害 / PLEKHA5 / ZFHX1B / SIP1 / mental retardation / nonsense mutation / 欠失 / 重度知的障害 / 遺伝子改変マウス / 病因遺伝子 / SLC19A3 / 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 / 発達障害 / X-chromosome / microsatellite / uniparental disomy / deletion / inactivation / spontaneous abortion / XIST gene / methylation / メチル化 / RNA FISH / X染色体 / マイクロサテライト / 片親性ダイソミー / 不活性化 / 自然流産 / XIST遺伝子 / メチレーション / brain atrophy / X-linked recessive / autosomal recessive / gene / PEPP2 / 常染色体劣性遺伝 / 伴性劣性遺伝 / Xq28 / 脳萎縮 / 伴性劣性 / 常染色体劣性 / 遺伝子 / frame shift mutation / agenesis of corpus callosum / congenital heart disease / facial dysmorphism / microcephaly / translocation / autosomal dominant / 常染色体優勢遺伝 / 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 / 逆位 / 均衡型相互転座 / 先天異常 / Sandhoff病 / 重度精神遅滞 / 疾患モデルマウス / サイアミントランスポーター / ノックダウン / P19細胞 / CHD6 / siRNA / ホモ接合体 / 構造異常 / 発生異常 / ゲノムライブラリー / 切断点 / 相互転座 Less

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
Molecular analysis of benign familial neonatal-infantile convulsion in a Japanese familyPrincipal Investigator
- Principal Investigator
  
  YAMADA Yasukazu
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Psychiatric science
- 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
Analysis of epigenetic abnormalities and micro-deletion of DNAs and chromosomes in spontaneous abortions
- Principal Investigator
  
  SONTA Shin-ichi
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Obstetrics and gynecology
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
二重鎖RNAを投与した培養脳細胞系を用いた重度脳発達障害の発症機序の解明
- Principal Investigator
  
  若松延昭
- Project Period (FY)
  2003 – 2004
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
Isolation and characterization of the new genes isolated from three diseases presenting with severe psychomotor retardation.
- Principal Investigator
  
  WAKAMATSU Nobuaki
- Project Period (FY)
  2003 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center
identification of candidate genes responsible for an autism patient with pericentric inversion in chromosome 2.Principal Investigator
- Principal Investigator
  
  YAMADA Yasukazu
- Project Period (FY)
  2003 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Psychiatric science
- 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
染色体組換え点遺伝子の異常による発生異常・疾患マウスの系統的開発と遺伝子解析
- Principal Investigator
  
  SONTA Shin-ichi
- Project Period (FY)
  1999
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas (A)
- 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
Molecular Basis for Human Erythrocyte AMP deaminase deficiency.Principal Investigator
- Principal Investigator
  
  YAMADA Yasugazu
- Project Period (FY)
  1993 – 1994
- Research Category
  
  Grant-in-Aid for General Scientific Research (C)
- Research Field
  
  Human genetics
- Research Institution
  Institute for Developmental Research, Aichi Human Service Center

[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] 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-22591270
[Book] 腎とフリーラジカル第11集，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．2013
- Author(s)
  山田晴生
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-22591270
[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] 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.腎とフリーラジカル第11集2013
- Author(s)
  山田晴生, 山田裕一, 足立哲夫, 今井裕一
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-22591270
[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，HPRT欠損症（Lesch-Nyhan症候群）．2013
- Author(s)
  山田裕一
- Publisher
  中山書店
- Data Source
  KAKENHI-PROJECT-22591270
[Book] ピクバスクチンによるlow density lipoprotein (LDL)結合serum amyloid A (SAA)を指標とした抗炎症効果と腎保護作用.腎とフリーラジカル第11集2013
- Author(s)
  山田晴生, 足立哲夫, 山田裕一, 三浦直人, 今井裕一
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-22591270
[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212013
- Author(s)
  山田裕一
- Data Source
  KAKENHI-PROJECT-22591270
[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] 腎とフリーラジカル第11集，ピタバスタチンによるlow density lipoprotein (LDL) 結合serum amyloid A (SAA) を指標とした抗炎症効果と腎保護作用．2013
- Author(s)
  山田晴生
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-22591270
[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PRPS1の遺伝子異常に起因する4つの症候群.痛風と核酸代謝362012
- Author(s)
  山田裕一
- Data Source
  KAKENHI-PROJECT-22591270
[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] 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-22591270
[Book] 別冊日本臨牀　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
  日本臨牀社
- Data Source
  KAKENHI-PROJECT-22591270
[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] Aneuploidy and intellectual disability, in Aneuploidy in Health and Disease, Storchova Zed, In Tech-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-22591270
[Book] 核酸代謝異常(Lesch-Nyhan症候群など).小児科診療-増刊号「特集小児の治療指針」732010
- Author(s)
  山田裕一
- Data Source
  KAKENHI-PROJECT-22591270
[Book] 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.腎とフリーラジカル第10集2010
- 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, 青山龍平, 山口諭, 鈴木啓介, 管憲広, 渡辺一司, 三浦直人, 百川和裕, 山村昌弘, 今井裕一, 足立哲夫, 山田裕一
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-22591270
[Book] 免疫抑制剤ミソリビンの細胞周期・フリーラジカル産生に及ぼす影響.腎とフリーラジカル第10集2010
- 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,青山龍平, 山口諭, 鈴木啓介, 管憲広, 渡辺一司, 三浦直人, 百川和裕,山村昌弘, 今井裕一, 山田裕一, 足立哲夫
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-22591270
[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] 腎とフリーラジカル第7集(松澤直輝, 青柳一正編)2004
- Author(s)
  山田晴生, 足立哲夫, 山田裕一他
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-15591252
[Book] 腎とフリーラジカル第7集(松澤直輝,青柳一正編)2004
- Author(s)
  山田晴生, 他(分担)
- Publisher
  東京医学社
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[Book] 高尿酸血症・低尿酸血症-痛風の治療新ガイドライン-(日本臨牀61巻増刊)2003
- Author(s)
  山田裕一(分担)
- Publisher
  日本臨牀社
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15390332
[Book] 高尿酸血症・低尿酸血症 -痛風のガイドライン-(日本臨牀61巻増刊)2003
- Author(s)
  山田裕一(分担)
- Publisher
  日本臨牀社
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[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, 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] Characterization of the mutant p-subunit of p-hexosammidase 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
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22591270
[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 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] 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-22591270
[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] 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
- Journal Title
  
  J Biochem
  
  Volume: 153 Issue: 1 Pages: 111-119
- DOI
  10.1093/jb/mvs131
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22591270, KAKENHI-PROJECT-24659268
[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-22591270
[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] 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] 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-22591270
[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] Molecular characterization of deletion in the HPRT gene in a patient with Lesch-Nyhan syndrome.2011
- Author(s)
  Taniguchi A, Yamada Y, Hakota M, Sekita C, Kawamoto M, Kaneko H, Yamanaka H
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids
  
  Volume: 30 Issue: 12 Pages: 1266-1271
- DOI
  10.1080/15257770.2011.608396
- Peer Reviewed
- Data Source
  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] 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-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-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] 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-22591270
[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] 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] Extracellular-superoxide dismutase production in mesangial cell growing in extracellular matrix.2005
- Author(s)
  Yamada H, et al.
- Journal Title
  
  The Japanese Journal of Nephrology 47-1
  
  Pages: 32-37
- NAID
  80017490005
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] MECP2遺伝子異常を伴うRett症侯群の臨床症状について2005
- Author(s)
  三浦清邦, 山田裕一, 若松延昭他
- Journal Title
  
  脳と発達 37・1
  
  Pages: 39-45
- Data Source
  KAKENHI-PROJECT-15390332
[Journal Article] MECP2遺伝子異常を伴うRett症候群の臨床症状について2005
- Author(s)
  三浦清邦, 山田裕一, 若松延昭他
- Journal Title
  
  脳と発達 37・1
  
  Pages: 39-45
- NAID
  10015436028
- Data Source
  KAKENHI-PROJECT-15659256
[Journal Article] MECP2遺伝子異常を伴うRett症侯群の臨床症状について2005
- Author(s)
  三浦清邦, 山田裕一, 若松延昭他
- Journal Title
  
  脳と発達 37・1
  
  Pages: 39-45
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] 培養メサンギウム細胞の産生 Extracellular Superoxide Dismutase (EC-SOD)と細胞外基質.2005
- Author(s)
  山田晴生, 他
- Journal Title
  
  日本腎臓学会誌 47・1
  
  Pages: 32-37
- NAID
  80017490005
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] 培養メサンギウム細胞の産生Extracellular Superoxide Dismutase(EC-SOD)と細胞外基質.2005
- Author(s)
  山田晴生, 他
- Journal Title
  
  日本腎臓学会誌The Japanese Journal of Nephrology 47・1
  
  Pages: 32-37
- NAID
  80017490005
- Data Source
  KAKENHI-PROJECT-15591252
[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
- Journal Title
  
  Journal of Medical Genetics 41・5
  
  Pages: 387-394
- Data Source
  KAKENHI-PROJECT-15390332
[Journal Article] Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.2004
- Author(s)
  Yamada Y, et al.
- Journal Title
  
  Nucleosides Nucleotides and Nucleic Acids 23-8&9
  
  Pages: 1169-1172
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] てんかん発症以前から経過観察できたSIP1異常症の3幼児例2004
- Author(s)
  三浦清邦, 山田裕一, 若松延昭他
- Journal Title
  
  てんかん研究 22・2
  
  Pages: 101-107
- NAID
  10016244137
- Data Source
  KAKENHI-PROJECT-15659256
[Journal Article] Mutations in the hypoxanthine guanine phosphoribosyltrans-ferase gene (HPRT1) in Asian HPRT deficient families.2004
- Author(s)
  Yamada Y, et al.
- Journal Title
  
  Nucleosides Nucleotides and Nucleic Acids 23・8&9
  
  Pages: 1169-1172
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15390332
[Journal Article] Disruption in the hypoxanthine phosphoribosyltransferase gene caused by translocation in a patient with Lesch-Nyhan syndrome2004
- Author(s)
  Mizunuma M, Yamada Y, Yamada K, Santa S, Wakamatsu N, Kaneko K, Ogasawara N, Fujimori S
- Journal Title
  
  Nucleosides Nucleotides Nucleic Acids 23
  
  Pages: 1173-1176
- Data Source
  KAKENHI-PROJECT-16390481
[Journal Article] 骨芽細胞・破骨細胞の in vitro での再現と活性酸素の関与.2004
- Author(s)
  山田晴生, 他
- Journal Title
  
  臨床透析 20・5
  
  Pages: 541-546
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[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 Acids 23・8&9
  
  Pages: 1173-1176
- Data Source
  KAKENHI-PROJECT-15659256
[Journal Article] Mutations in the Hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.2004
- Author(s)
  Yamada Y, et al.
- Journal Title
  
  Nucleosides Nucleotides and Nucleic Acids 23・8&9
  
  Pages: 1169-1172
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[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 Acids 23・8&9
  
  Pages: 1173-1176
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.2004
- Author(s)
  Yamada Y, Yamada K, Sonta S, Wakamatsu N. Ogasawara N.
- Journal Title
  
  Nucleosides Nucleotides and Nucleic Acids 23・8&9
  
  Pages: 1169-1172
- Data Source
  KAKENHI-PROJECT-15659256
[Journal Article] Establishment of anti-rat-cu,zn-superoxide dismutase monoclonal antibodies applied to a highly sensitive immunoassay and immunohistochemistry system.2004
- Author(s)
  Yamada K, Yamada Y, Misao S, Kitagawa W, et al.
- Journal Title
  
  Hybrid Hybridomics 23・4
  
  Pages: 232-236
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.2004
- Author(s)
  Yamada Y, et al.
- Journal Title
  
  Nucleosides Nucleotides and Nucleic Acids 23-8&9
  
  Pages: 1169-1172
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15390332
[Journal Article] てんかん発症以前から経過観察できたSIP1異常症の3幼児例2004
- Author(s)
  三浦清邦, 山田裕一, 若松延昭他
- Journal Title
  
  てんかん研究 22・2
  
  Pages: 101-107
- NAID
  10016244137
- Data Source
  KAKENHI-PROJECT-15390332
[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・5
  
  Pages: 387-394
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] Establishment of anti-rat-cu,zn-superoxide dismutase monoclonal antibodies applied to a highly sensitive immunoassay and immunohistochemistry system.2004
- Author(s)
  Yamada H, et al.
- Journal Title
  
  Hybrid Hybridomics 23・4
  
  Pages: 232-236
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[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 Acids 23・8&9
  
  Pages: 1173-1176
- Data Source
  KAKENHI-PROJECT-15390332
[Journal Article] Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHXJB mutations and deletions at 2q22-q24.1.2004
- Author(s)
  Ishihara N, Yamada K, Yamada Y, - Wakamatsu N.
- Journal Title
  
  Journal of Medical Genetics 41・5
  
  Pages: 387-394
- Data Source
  KAKENHI-PROJECT-15659256
[Journal Article] Establishment of anti-rat-Cu, Zn-superoxide dismutase monoclonal antibodies applied to a highly sensitive immunoassay and immunohistochemistry system.2004
- Author(s)
  Yamada H, et al.
- Journal Title
  
  Hybrid Hybridomics 23-4
  
  Pages: 232-236
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.2004
- Author(s)
  Yamada Y, Yamada K, Sonta S, Wakamatsu N, Ogasawara N.
- Journal Title
  
  Nucleosides Nucleotides and Nucleic Acids 23・8&9
  
  Pages: 1169-1172
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] Possible mimics of osteoclast function associated with the reactive oxygen and extracellular superoxiside dismutase in vitro.2004
- Author(s)
  Yamada H, et al.
- Journal Title
  
  The Japanese Journal of Clinical Dialysis 20-5
  
  Pages: 541-546
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] てんかん発症以前から経過観察できたSIP1異常症の3幼児例2004
- Author(s)
  三浦清邦, 山田裕一, 若松延昭他
- Journal Title
  
  てんかん研究 22・2
  
  Pages: 101-107
- NAID
  10016244137
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.2004
- Author(s)
  Yamada Y, Yamada K, Sonta S, Wakamatsu N, Ogasawara N.
- Journal Title
  
  Nucleosides Nucleotides and Nucleic Acids 23・8&9
  
  Pages: 1169-1172
- Data Source
  KAKENHI-PROJECT-15390332
[Journal Article] The progress of extracellular superoxiside dismutase study.2003
- Author(s)
  Yamada H, et al.
- Journal Title
  
  Kidney and Dialysis 54-6
  
  Pages: 783-786
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[Journal Article] Extracellular-superoxide dismutase 研究の進歩.2003
- Author(s)
  山田晴生, 他
- Journal Title
  
  腎と透析 54・6
  
  Pages: 783-786
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15591252
[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] Clinical variability in a Japanese hereditary lymphedema type I family with a FLT4 mutation.
- Author(s)
  Mizuno S, Yamada Y, Yamada K, Wakamatsu N, et al.
- Journal Title
  
  Congenital Anomalies in press
- NAID
  10018085679
- Data Source
  KAKENHI-PROJECT-15591252
[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] 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] 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] 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
  東京
- Year and Date
  2013-02-12
- Data Source
  KAKENHI-PROJECT-22591270
[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] 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-22591270
[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] 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] 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] 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-22591270
[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-22591270
[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 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
  Nurnberg, Germany
- Year and Date
  2012-06-24
- Data Source
  KAKENHI-PROJECT-22591270
[Presentation] 遺伝病診療:HPRT欠損症診断2012
- Author(s)
  山田裕一, 若松延昭
- Organizer
  日本痛風・核酸代謝学会シンポジウム1
- Place of Presentation
  奈良(招待講演)
- Year and Date
  2012-02-16
- Data Source
  KAKENHI-PROJECT-22591270
[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-22591270
[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, 木村社子, 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-22591270
[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-22591270
[Presentation] 遺伝病診療 : HPRT欠損症診断.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」2012
- Author(s)
  山田裕一, 若松延昭
- Organizer
  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-22591270
[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
  日本生化学会大会
- Place of Presentation
  福岡国際会議場（福岡）
- Data Source
  KAKENHI-PROJECT-22591270
[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] 液体クロマトグラフィー-タンデム質量分析法による赤血球中ホスホリボシルピロリン酸の定量法の開発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
  日本痛風・核酸代謝学会
- Place of Presentation
  奈良
- Year and Date
  2012-02-16
- Data Source
  KAKENHI-PROJECT-22591270
[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-22591270
[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 ofHuman Genetics
- Place of Presentation
  San Francisco, USA
- Year and Date
  2012-11-09
- Data Source
  KAKENHI-PROJECT-22591270
[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-22591270
[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] 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] 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-22591270
[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-22591270
[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
  14th International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Tokyo
- Year and Date
  2011-02-20
- Data Source
  KAKENHI-PROJECT-22591270
[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] 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-22591270
[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] ピタバスタチンによるLDL結合SAAを指標とした抗炎症効果と腎保護作用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-22591270
[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] Molecular analysis of the X-Hnked 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
  2011-02-19
- Data Source
  KAKENHI-PROJECT-22591270
[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-22591270
[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] A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations2011
- 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-22591270
[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-22591270
[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 Y, 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-22591270
[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
  14th International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Tokyo
- Year and Date
  2011-02-19
- Data Source
  KAKENHI-PROJECT-22591270
[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-22591270
[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] 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-22591270
[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-22591270
[Presentation] 運動ニューロン疾患の症状を呈する成人型Sandhoff病のβ-hexosaminidase活性に対するpyrimethamine効果2011
- Author(s)
  山田晴生, 足立哲夫, 山田裕一, 三浦直人, 今井裕一
- Organizer
  腎とフリーラジカル研究会
- Place of Presentation
  徳島
- Year and Date
  2011-10-02
- Data Source
  KAKENHI-PROJECT-22591270
[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-22591270
[Presentation] Molecular analysis of ZEB2 responsible for the Mowat-Wilson syndrome2011
- Author(s)
  Yamada Y, Yamada K, Mizuno S, Nishi E, Ishihara N, Akimaru N, Urano M, Matsuda K, Okamoto N, Hiraki Y, 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-22591270
[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] 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-22591270
[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-22591270
[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-22591270
[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] 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-22591270
[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] 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-22591270
[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 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-22591270
[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-22591270
[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] 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-22591270
[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-22591270
[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
  14th International Symposium on Purine and Pyrimidine Metabolism in Man
- Place of Presentation
  Tokyo
- Year and Date
  2011-02-20
- Data Source
  KAKENHI-PROJECT-22591270
[Presentation] ピタバスクチンによるLDL結合SAAを指標とした抗炎症効果と腎保護作用.2011
- Author(s)
  山田晴生, 足立哲夫, 山田裕一, 三浦直人, 今井裕一
- Organizer
  腎とフリーラジカル研究会
- Place of Presentation
  徳島
- Year and Date
  2011-10-02
- Data Source
  KAKENHI-PROJECT-22591270
[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-22591270
[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-22591270
[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-22591270
[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] 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-22591270
[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-22591270
[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] 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, USA
- Year and Date
  2010-11-05
- Data Source
  KAKENHI-PROJECT-22591270
[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-22591270
[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] 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-22591270
[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] 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-22591270
[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-22591270
[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] 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-22591270
[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
  神戸
- Year and Date
  2010-12-10
- Data Source
  KAKENHI-PROJECT-22591270
[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
[Presentation] 腎性貧血にエポエチンβ－エポエチンκの切り替えに伴う炎症指標の推移．
- Author(s)
  山田晴生
- Organizer
  腎とフリーラジカル研究会
- Place of Presentation
  興和ホール（東京）
- Data Source
  KAKENHI-PROJECT-22591270
[]
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1. WAKAMATSU Nobuaki (60274198)

# of Collaborated Projects: 8 results

# of Collaborated Products: 139 results
2. YAMADA Kenichirou (30291173)

# of Collaborated Projects: 6 results

# of Collaborated Products: 177 results
3. SONTA Shin-ichi (00100165)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
4. ONO Takao (20291172)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
5. MIZUNO Seiji (20393150)

# of Collaborated Projects: 1 results

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

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
7. OGASAWARA Nobuaki (00090415)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. KUWANO Ryouzo (20111734)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. NISHIMURA Bensaku (50110044)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. TANEMURA Mitsuyo (80301422)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. SUGIURA Mayumi (30264740)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
12. 武藤宣博 (70190858)

# of Collaborated Projects: 1 results

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

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. 鈴森薫 (80117829)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. MIURA Kiyokuni

# of Collaborated Projects: 1 results

# of Collaborated Products: 16 results
16. KUMAGAI Tosiyuki

# of Collaborated Projects: 1 results

# of Collaborated Products: 6 results
17. GOTO Haruko

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
18. CHIBA Yoshihide

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
19. YAMADA Kenji

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

YAMADA Yasukazu 山田 裕一

YAMADA Yasugazu 山田 裕一

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Molecular analysis of benign familial neonatal-infantile convulsion in a Japanese familyPrincipal Investigator

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identification of candidate genes responsible for an autism patient with pericentric inversion in chromosome 2.Principal Investigator

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Molecular Basis for Human Erythrocyte AMP deaminase deficiency.Principal Investigator

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[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

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[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)

Publisher

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YAMADA Yasukazu 山田裕一

YAMADA Yasugazu 山田裕一

[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，HPRT欠損症（Lesch-Nyhan症候群）．2013

[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

[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

[Book] 別冊日本臨牀　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