Clinical Comparison of Overlapping Deletions of 19p13.3-Reference-Cited by-同舟云学术

Clinical Comparison of Overlapping Deletions of 19p13.3

Published:2013-04-22 Issue:5 Volume:161 Page:1110-1116
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Risheg Hiba¹,Pasion Romela²,Sacharow Stephanie³,Proud Virginia⁴,Immken LaDonna⁵,Schwartz Stuart²,Tepperberg Jim H.²,Papenhausen Peter²,Tan Tiong Y.⁶,Andrieux Joris⁷,Plessis Ghislaine⁸,Amor David J.,Keitges Elisabeth A.¹

Affiliation:

1. Laboratory Corporation of America/Dynacare, Department of Cytogenetics; Seattle, Washington

2. Laboratory Corporation of America, Center for Molecular Biology and Pathology, Department of Cytogenetics, Research Triangle Park; North Carolina

3. Mailman Center for Child Development, Department of Human Genetics; University of Miami; Miami, Florida

4. Children's Hospital of King's Daughter; Norfolk, Virginia

5. Specially for Children; Austin, Texas

6. Victorian Clinical Genetics Services; Murdoch Children's Research Institute, Royal Children's Hospital; Melbourne; Australia

7. Laboratoire de Génétique Médicale; Hopital Jeanne de Flandre; CHRU, Lille; France

8. Service de Génétique; CHU CAEN; France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35923/fullpdf

Reference12 articles.

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2. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse;Bomar;Nat Genet,2003

3. Modification of GATA-2 transcriptional activity in endothelial cells by the SUMO E3 ligase PIASy;Chun;Circ Res,2003

4. Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems;de Smith;Am J Med Genet A,2011

5. Spectrum of MEK1and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations;Dentici;Eur J Hum Genet,2009

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3. De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions;Journal of Human Genetics;2019-10-23

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5. Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion;Case Reports in Genetics;2018