Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome-Reference-Cited by-同舟云学术

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

Published:2018-03-02 Issue:11 Volume:27 Page:1847-1857
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Hasten Erica¹,McDonald-McGinn Donna M²,Crowley Terrence B²,Zackai Elaine²,Emanuel Beverly S²,Morrow Bernice E¹,Racedo Silvia E¹

Affiliation:

1. Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA

2. Division of Human Genetics, Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA

Funder

NIH

AHA

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/11/1847/25087137/ddy078.pdf

Reference52 articles.

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2. Genomic disorders on 22q11;McDermid;Am. J. Hum. Genet,2002

3. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome;Edelmann;Am. J. Hum. Genet,1999

4. A common molecular basis for rearrangement disorders on chromosome 22q11;Edelmann;Hum. Mol. Genet,1999

5. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review;Shaikh;Genet. Med,2001

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