Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination-Reference-Cited by-同舟云学术

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

Published:2009-12 Issue:6 Volume:85 Page:809-822
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Vandewalle Joke,Van Esch Hilde,Govaerts Karen,Verbeeck Jelle,Zweier Christiane,Madrigal Irene,Mila Montserrat,Pijkels Elly,Fernandez Isabel,Kohlhase Jürgen,Spaich Christiane,Rauch Anita,Fryns Jean-Pierre,Marynen Peter,Froyen Guy

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference35 articles.

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2. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation;Froyen;Am. J. Hum. Genet.,2008

3. 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

4. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair;Bauters;Genome Res.,2008

5. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders;Lee;Cell,2007

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