Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder-Reference-Cited by-同舟云学术

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

Published:2013-05-01 Issue:1 Volume:22 Page:57-63
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Mullegama Sureni V,Rosenfeld Jill A,Orellana Carmen,van Bon Bregje W M,Halbach Sara,Repnikova Elena A,Brick Lauren,Li Chumei,Dupuis Lucie,Rosello Monica,Aradhya Swaroop,Stavropoulos D James,Manickam Kandamurugu,Mitchell Elyse,Hodge Jennelle C,Talkowski Michael E,Gusella James F,Keller Kory,Zonana Jonathan,Schwartz Stuart,Pyatt Robert E,Waggoner Darrel J,Shaffer Lisa G,Lin Angela E,de Vries Bert B A,Mendoza-Londono Roberto,Elsea Sarah H

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201367.pdf

Reference24 articles.

1. Talkowski ME, Mullegama SV, Rosenfeld JA et al: Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet 2011; 89: 551–563.

2. Chung BH, Mullegama S, Marshall CR et al: Severe intellectual disability and autistic features associated with microduplication 2q23.1. Eur J Hum Genet 2012; 20: 398–403.

3. Pinto D, Pagnamenta AT, Klei L et al: Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466: 368–372.

4. Matos A, Nogueira A, Criado B, Pereira S, Castedo S, Montenegro N : Prenatal diagnosis of partial trisomy 2q. Case report. Prenat Diagn 1997; 17: 874–876.

5. Schumacher RE, Rocchini AP, Wilson GN : Partial trisomy 2q. Clin Genet 1983; 23: 191–194.

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