Branchio-oto-renal syndrome: The mutation spectrum inEYA1and its phenotypic consequences-Reference-Cited by-同舟云学术

Branchio-oto-renal syndrome: The mutation spectrum inEYA1and its phenotypic consequences

Published:2004-06 Issue:6 Volume:23 Page:582-589
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Chang Eugene H.,Menezes Maithilee,Meyer Nicole C.,Cucci Robert A.,Vervoort Virginie S.,Schwartz Charles E.,Smith Richard J.H.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference26 articles.

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2. A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family;Abdelhak;Nat Genet,1997

3. Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies;Azuma;Hum Mol Genet,2000

4. The eyes absent gene: genetic control of cell survival and differentiation in the developing Drosophila eye;Bonini;Cell,1993

5. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments;Charbonnier;Cancer Res,2000

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