16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2-Reference-Cited by-同舟云学术

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Published:2012-07-25 Issue:2 Volume:21 Page:182-189
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Barber John C K,Hall Victoria,Maloney Viv K,Huang Shuwen,Roberts Angharad M,Brady Angela F,Foulds Nicki,Bewes Beverley,Volleth Marianne,Liehr Thomas,Mehnert Karl,Bateman Mark,White Helen

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2012144.pdf

Reference35 articles.

1. Itsara A, Cooper GM, Baker C et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009; 84: 148–161.

2. Ghebranious N, Giampietro PF, Wesbrook FP et al. A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation. Am J Med Genet Part A 2007; 143A: 1462–1471.

3. Weiss LA, Shen Y, Korn JM et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358: 667–675.

4. Walters RG, Jacquemont S, Valsesia A et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010; 463: 671–675.

5. Cohen MM, Lerner C, Balkin NE : Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segment. Am J Med Genet 1983; 14: 89–96.

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