Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features-Reference-Cited by-同舟云学术

Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features

Published:2009-01 Issue:1 Volume:52 Page:62-66
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Leal Teresinha,Andrieux Joris,Duban-Bedu Bénédicte,Bouquillon Sonia,Brevière Georges-Marie,Delobel Bruno

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference10 articles.

1. Identification of microdeletions spanning the Diamond-Blackfan anaemia locus on 19q13 and evidence for genetic heterogeneity;Gustavsson;J. Med. Genet.,2000

2. Constitutional del(19) (q12q13.1) in a three-year-old girl with severe phenotypic abnormalities affecting multiple organ systems;Kulharya;Am. J.M. Med. Genet.,1998

3. Global variation in copy number in the human genome;Redon;Nature,2006

4. The fine-scale and complex architecture of human copy-number variation;Perry;Am. J. Hum. Genet.,2008

5. Three types of muscles express three sodium–calcium exchanger isoforms;Levitsky;Ann. N.Y. Sci.,2007

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2. Copy number variation analysis of patients with intellectual disability from North-West Spain;Gene;2017-08

3. Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature;American Journal of Medical Genetics Part A;2017-04-14

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