Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity-Reference-Cited by-同舟云学术

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Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity

Published:1995-10 Issue:4 Volume:4 Page:294-303
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:Clinical Dysmorphology

Author:

DE SILVA D,DUFFTY P,BOOTH P,AUCHTERLONIE I.,MORRISON N.,DEAN J C.S.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference11 articles.

1. Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome

2. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

3. Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome

4. Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

5. Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.

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5. Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease;Physiological Genomics;2010-09

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