文献

J-GLOBAL ID：200902232168923643   整理番号：09A0500940

乳児てんかん無しでの全身性ジストニアを呈する男児でのARX遺伝子の第1ポリアラニン管の拡張

Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms

著者 (10件)： SHINOZAKI Yuko (Dep. of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of ...) ,  OSAWA Maki (Dep. of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of ...) ,  OSAWA Maki (Dep. of Mental Retardation and Birth Defect Res., National Inst. of Neuroscience, National Center of Neurology and ...) ,  SAKUMA Hiroshi (Dep. of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of ...) ,  KOMAKI Hirofumi (Dep. of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of ...) ,  NAKAGAWA Eiji (Dep. of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of ...) ,  SUGAI Kenji (Dep. of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of ...) ,  SASAKI Masayuki (Dep. of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of ...) ,  GOTO Yuichi (Dep. of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of ...) ,  GOTO Yuichi (Dep. of Mental Retardation and Birth Defect Res., National Inst. of Neuroscience, National Center of Neurology and ...)
資料名： Brain & Development  (Brain & Development)
巻： 31  号： 6  ページ： 469-472  発行年： 2009年06月 
JST資料番号： W0814A  ISSN： 0387-7604  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： Aristaless-related homeobox(AR...

シソーラス用語： ヒト ,...
準シソーラス用語： *ARX遺伝子 ,...

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分類 (3件)： 神経系の疾患  (GN03000O) ,  精神障害  (GR03000A) ,  先天性疾患・奇形一般  (GD03010V)

引用文献 (10件)：

• Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SME, Bruyere H, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002;30:441-5.
• Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002;32:359-69.
• Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, et al. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 2004;23:147-59.
• Suri M. The phenotypic spectrum of ARX mutations. Dev Med Child Neurol 2005;47:133-7.
• Bienvenu T, Poirer K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, et al. ARX, a novel Prd-class homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002;11:981-99.

タイトルに関連する用語 (5件)： 乳児てんかん ,  全身性ジストニア ,  ARX遺伝子 ,  ポリアラニン ,  拡張