Identifying Candidate Hirschsprung Disease–Associated RET Variants-Reference-Cited by-同舟云学术

Identifying Candidate Hirschsprung Disease–Associated RET Variants

Published:2005-05 Issue:5 Volume:76 Page:850-858
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Burzynski Grzegorz M.,Nolte Ilja M.,Bronda Agnes,Bos Krista K.,Osinga Jan,Plaza Menacho Ivan,Twigt Bas,Maas Saskia,Brooks Alice S.,Joke Verheij B.G.M.,Charles Buys H.C.M.,Robert Hofstra M.W.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. Hirschsprung disease, associated syndromes, and genetics: a review;Amiel;J Med Genet,2001

2. A genetic study of Hirschsprung disease;Badner;Am J Hum Genet,1990

3. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus;Bolk;Proc Natl Acad Sci USA,2000

4. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma;Borrego;Am J Hum Genet,2003

5. Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2;Burzynski;Eur J Hum Genet,2004

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