Art

J-GLOBAL ID：201002266581070147   Reference number：10A0227136

アレイCGH法によるデジタル染色体解析の進歩と臨床応用

Author (1)： YAMAMOTO TOSHIYUKI (東京女医大 国際統合医科学インスティテュート)
Material： 脳と発達
Volume： 42  Issue： 2  Page： 138-143  Publication year： Mar. 01, 2010 
JST Material Number： S0502B  ISSN： 0029-0831  Document type： Article
Article type： 解説  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： FISH ,...
Semi thesaurus term： *array CGH method ,...

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JST classification (1)： Genetic variation  (EC01030Y)

Reference (16)：

• SLAVOTINEK, AM. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet. 2008, 124, 1-17
• SHAFFER, LG. The identification of microdeletion syndromes and other chromosome abnormalities : cytogenetic methods of the past, new technologies for the future. Am J Med Genet C Semin Med Genet. 2007, 145, 335-345
• STANKIEWICZ, P. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev. 2007, 17, 182-192
• RAVNAN, JB. Subtelomere FISH analysis of 11 688 cases : an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet. 2006, 43, 478-489
• AHN, JW. Detection of subtelomere imbalance using MLPA : validation, development of an analysis protocol, and application in a diagnostic centre. BMC Med Genet. 2007, 8, 9

Terms in the title (6)： アレイCGH法 ,  デジタル ,  染色体 ,  解析 ,  臨床 ,  応用