Art

J-GLOBAL ID：200902222286787112   Reference number：05A0657384

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome

Angelman症候群の日本人患者における片親性ダイソミーとインプリンティング欠損

Author (6)： SAITOH Shinji (Dep. of Pediatrics, Graduate School of Medicine, Hokkaido Univ., N-15, W-7, Kita-ku, Sapporo 060-8638, JPN) ,  WADA Takahito (Dep. of Preventive Medicine, Shinshu Univ. School of Medicine, Matsumoto, JPN) ,  OKAJIMA Maki (Dep. of Pediatrics, Graduate School of Medicine, Hokkaido Univ., N-15, W-7, Kita-ku, Sapporo 060-8638, JPN) ,  TAKANO Kyoko (Dep. of Pediatrics, Graduate School of Medicine, Hokkaido Univ., N-15, W-7, Kita-ku, Sapporo 060-8638, JPN) ,  SUDO Akira (Dep. of Pediatrics, Graduate School of Medicine, Hokkaido Univ., N-15, W-7, Kita-ku, Sapporo 060-8638, JPN) ,  NIIKAWA Norio (Dep. of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki Univ., Nagasaki, JPN)
Material： Brain & Development  (Brain & Dev)
Volume： 27  Issue： 5  Page： 389-391  Publication year： Aug. 2005 
JST Material Number： W0814A  ISSN： 0387-7604  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： Angelman症候群 ,...

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JST classification (3)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Genetic variation  (EC01030Y) ,  Molecular genetics in general  (EC02010J)

Reference (12)：

• NICHOLLS, RD. Imprinting in Prader-Willi and Angelman syndromes. Trends Genet. 1998, 14, 194-200
• CLAYTON-SMITH, J. Angelman syndrome : a review of the clinical and genetic aspects. J Med Genet. 2003, 40, 87-95
• LOSSIE, AC. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet. 2001, 38, 834-845
• WILLIAMS, CA. Angelman syndrome : consensus for diagnostic criteria. Am J Med Genet. 1995, 56, 237-238
• KUBOTA, T. Methylation-specific PCR simplifies imprinting analysis. Nat Genet. 1997, 16, 16-17

Terms in the title (6)： Angelman症候群 ,  日本人 ,  患者 ,  片親性ダイソミー ,  インプリンティング ,  欠損