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J-GLOBAL ID：201202210718358681   Reference number：12A0215810

マイクロアレイ染色体検査の臨床応用

Author (1)： YAMAMOTO TOSHIYUKI (東京女医大 統合医科研)
Material： 日本小児科学会雑誌  (Journal of the Japan Pediatric Association)
Volume： 116  Issue： 1  Page： 32-39  Publication year： Jan. 01, 2012 
JST Material Number： F0896A  ISSN： 0001-6543  CODEN： NIPOA  Document type： Article
Article type： 文献レビュー  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： human ,...
Semi thesaurus term： copy number variation ,...

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JST classification (2)： Medical examinations in general  (GC02010L) ,  Molecular genetics in general  (EC02010J)

Reference (22)：

• MILLER, DT. Consensus statement : chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010, 86, 749-764
• KEARNEY, HM. American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities. Genet Med. 2011, 13, 676-679
• KEARNEY, HM. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011, 13, 680-685
• MANNING, M. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010, 12, 742-745
• 山本俊至. アレイCGHによるデジタル染色体解析の進歩と臨床応用. 脳と発達. 2010, 42, 138-143

Terms in the title (3)： マイクロアレイ染色体検査 ,  臨床 ,  応用