Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involvingCHD8gene, is associated with autism and macrocephaly-Reference-Cited by-同舟云学术

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involvingCHD8gene, is associated with autism and macrocephaly

Published:2014-09-24 Issue:12 Volume:164 Page:3137-3141
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Prontera Paolo¹,Ottaviani Valentina¹,Toccaceli Daniela²,Rogaia Daniela¹,Ardisia Carmen¹,Romani Rita¹,Stangoni Gabriela³,Pierini Angiolo²,Donti Emilio¹

Affiliation:

1. Centro di Riferimento Regionale di Genetica Medica; Azienda Ospedaliera-Universitaria di Perugia; Perugia Italy

2. UOS Distrettuale di Neuropsichiatria e Psicologia Clinica dell'Età Evolutiva; Centro di Riferimento Regionale per i Disturbi dello Spettro Autistico; USL Umbria 1; Perugia Italy

3. SC Neonatologia; Azienda Ospedaliera-Universitaria di Perugia; Perugia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36741/fullpdf

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4. Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders;Griesi-Oliveira;Autism Res,2013

5. CTCF-dependent chromatin insulator is linked to epigenetic remodeling;Ishihara;Mol Cell,2006

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