Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures-Reference-Cited by-同舟云学术

Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures

Published:2001-12 Issue:6 Volume:69 Page:1370-1377
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Amiel Jeanne,Espinosa-Parrilla Yolanda,Steffann Julie,Gosset Philippe,Pelet Anna,Prieur Marguerite,Boute Odile,Choiset Agnès,Lacombe Didier,Philip Nicole,Le Merrer Martine,Tanaka Hajime,Till Marianne,Touraine Renaud,Toutain Annick,Vekemans Michel,Munnich Arnold,Lyonnet Stanislas

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease;Cacheux;Hum Mol Genet,2001

2. XSIP1, a member of two-handed zinc finger proteins, induced anterior neural markers in Xenopus laevis animal cap;Eisaki;Biochem Biophys Res Commun,2000

3. Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration;Hurst;J Med Genet,1988

4. An optimized set of human telomere clones for studying telomere integrity and architecture;Knight;Am J Hum Genet,2000

5. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature;Lurie;Genet Couns,1994

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