Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder-Reference-Cited by-同舟云学术

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Published:2011-10 Issue:4 Volume:89 Page:551-563
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Talkowski Michael E.,Mullegama Sureni V.,Rosenfeld Jill A.,van Bon Bregje W.M.,Shen Yiping,Repnikova Elena A.,Gastier-Foster Julie,Thrush Devon Lamb,Kathiresan Sekar,Ruderfer Douglas M.,Chiang Colby,Hanscom Carrie,Ernst Carl,Lindgren Amelia M.,Morton Cynthia C.,An Yu,Astbury Caroline,Brueton Louise A.,Lichtenbelt Klaske D.,Ades Lesley C.,Fichera Marco,Romano Corrado,Innis Jeffrey W.,Williams Charles A.,Bartholomew Dennis,Van Allen Margot I.,Parikh Aditi,Zhang Lilei,Wu Bai-Lin,Pyatt Robert E.,Schwartz Stuart,Shaffer Lisa G.,de Vries Bert B.A.,Gusella James F.,Elsea Sarah H.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference48 articles.

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2. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures;Williams;Eur. J. Hum. Genet.,2010

3. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation;Wagenstaller;Am. J. Hum. Genet.,2007

4. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype;van Bon;Eur. J. Hum. Genet.,2010

5. A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization;Koolen;Clin. Genet.,2004

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