Partial monosomy of 11q22.2q22.3 including theSDHDgene in individuals with developmental delay-Reference-Cited by-同舟云学术

Partial monosomy of 11q22.2q22.3 including theSDHDgene in individuals with developmental delay

Published:2015-03-03 Issue:4 Volume:167 Page:695-700
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Yelavarthi Krishna¹,Cabral Huong²,Wilson Golder N.³,Rohena Luis⁴,Risheg Hiba⁵,Penton Andrea²,Schleede Justin²,Burnside Rachel D.²

Affiliation:

1. Indiana University School of Medicine-Northwest; Genetics Center; Gary Indiana

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

3. KinderGenome Pediatric Genetics; Dallas Texas

4. Department of Pediatrics; San Antonio Military Medical Center; San Antonio Texas

5. Laboratory Corporation of America Holdings; Dynacare; Seattle Washington

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36956/fullpdf

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3. A small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype;Evers;Am J Med Genet A,2012

4. Common fragile site FRA11G and rare fragile site FRA11B at 11q23.3 encompass distinct genomic regions;Fechter;Gene Chromosome Canc,2007

5. Heterozygous ATM mutations do not contribute to early onset of breast cancer;FitzGerald;Nat Genet,1997

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1. ATM whole gene deletion in an Italian family with hereditary pancreatic cancer: Challenges to cancer risk prediction associated with an 11q22.3 microdeletion;Cancer Genetics;2020-01

2. De novo interstitial deletion in the long arm of chromosome 11: a case report;Genetics and Molecular Research;2016