Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching-Reference-Cited by-同舟云学术

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Published:2009-03-26 Issue:12 Volume:18 Page:2188-2203
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Carvalho Claudia M.B.,Zhang Feng,Liu Pengfei,Patel Ankita,Sahoo Trilochan,Bacino Carlos A.,Shaw Chad,Peacock Sandra,Pursley Amber,Tavyev Y. Jane,Ramocki Melissa B.,Nawara Magdalena,Obersztyn Ewa,Vianna-Morgante Angela M.,Stankiewicz Pawel,Zoghbi Huda Y.,Cheung Sau Wai,Lupski James R.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/18/12/2188/17246817/ddp151.pdf

Reference56 articles.

1. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome;Meins;J. Med. Genet.,2005

2. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males;Van Esch;Am. J. Hum. Genet.,2005

3. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males;del Gaudio;Genet. Med.,2006

4. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28;Friez;Pediatrics,2006

5. CNV and nervous system disease - what’s new?;Gu;Cytogenet. Genome Res.,2008

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