Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes-Reference-Cited by-同舟云学术

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Published:2012-02-08 Issue:7 Volume:20 Page:754-761
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Rosenfeld Jill A, ,Traylor Ryan N,Schaefer G Bradley,McPherson Elizabeth W,Ballif Blake C,Klopocki Eva,Mundlos Stefan,Shaffer Lisa G,Aylsworth Arthur S

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg20126.pdf

Reference56 articles.

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2. Mefford HC, Sharp AJ, Baker C et al: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008; 359: 1685–1699.

3. Sharp AJ, Hansen S, Selzer RR et al: Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 2006; 38: 1038–1042.

4. de Vries BB, Pfundt R, Leisink M et al: Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005; 77: 606–616.

5. Jaillard S, Drunat S, Bendavid C et al: Identification of gene copy number variations in patients with mental retardation using array-CGH: novel syndromes in a large French series. Eur J Med Genet 2010; 53: 66–75.

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