Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains-Reference-Cited by-同舟云学术

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

Published:2014-01-13 Issue:3 Volume:35 Page:377-383
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vanmarsenille Lieselot¹²,Giannandrea Maila³,Fieremans Nathalie¹²,Verbeeck Jelle¹²,Belet Stefanie¹²,Raynaud Martine⁴,Vogels Annick⁵,Männik Katrin⁶,Õunap Katrin⁷,Jacqueline Vigneron⁸,Briault Sylvain⁹,Van Esch Hilde⁵,D'Adamo Patrizia³,Froyen Guy¹²

Affiliation:

1. Human Genome Laboratory; VIB Center for the Biology of Disease; Leuven Belgium

2. Human Genome Laboratory; Center for Human Genetics; KU Leuven; Leuven Belgium

3. Dulbecco Telethon Institute at Division of Neuroscience; San Raffaele Scientific Institute; Milano Italy

4. Centre Hospitalier Universitaire de Tours; Service de Génétique; Tours France

5. University Hospitals Leuven; Center for Human Genetics; KU Leuven; Leuven Belgium

6. Institute of Molecular and Cell Biology; University of Tartu; Tartu Estonia

7. Department of Genetics; United Laboratories; Tartu University Hospital; Tartu Estonia

8. Medical Genetics, Regional Maternity University; Nancy France

9. Molecular and Experimental Immunology and Neurogenetics; University of Orléans; Orléans France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

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

2. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice;Collins;Hum Mol Genet,2004

3. Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice;D'Adamo;Hum Mol Genet,2002

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

5. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions;El-Hattab;J Med Genet,2011

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