Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband-Reference-Cited by-同舟云学术

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Published:2007-08-22 Issue:12 Volume:15 Page:1218-1229
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hardwick Simon A,Reuter Kirsten,Williamson Sarah L,Vasudevan Vidya,Donald Jennifer,Slater Katrina,Bennetts Bruce,Bebbington Ami,Leonard Helen,Williams Simon R,Smith Robert L,Cloosterman Desiree,Christodoulou John

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201911.pdf

Reference52 articles.

1. Laurvick CL, de Klerk N, Bower C et al: Rett syndrome in Australia: a review of the epidemiology. J Pediatr 2006; 148: 347–352.

2. Weaving LS, Ellaway CJ, Gecz J, Christodoulou J : Rett syndrome: clinical review and genetic update. J Med Genet 2005; 42: 1–7.

3. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY : Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23: 185–188.

4. Trappe R, Laccone F, Cobilanschi J et al: MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet 2001; 68: 1093–1101.

5. Amir R, Sutton V, Van den Veyver I : Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy. J Child Neurol 2005; 20: 779–783.

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