Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model-Reference-Cited by-同舟云学术

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Contribution of rare and common variants determine complex diseases—Hirschsprung disease as a model

Published:2013-10 Issue:1 Volume:382 Page:320-329
ISSN:0012-1606
Container-title:Developmental Biology
language:en
Short-container-title:Developmental Biology

Author:

Alves Maria M.,Sribudiani Yunia,Brouwer Rutger W.W.,Amiel Jeanne,Antiñolo Guillermo,Borrego Salud,Ceccherini Isabella,Chakravarti Aravinda,Fernández Raquel M.,Garcia-Barcelo Maria-Mercè,Griseri Paola,Lyonnet Stanislas,Tam Paul K.,van IJcken Wilfred F.J.,Eggen Bart J.L.,te Meerman Gerard J.,Hofstra Robert M.W.

Funder

Maag Lever Darm

ZonMW TOP

R.M.W. Hofstra

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,Molecular Biology

Reference115 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. High-resolution mapping of a complex disease, a model for rheumatoid arthritis, using heterogeneous stock mice;Ahlqvist;Hum. Mol. Genet.,2011

3. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease;Amiel;Hum. Mol. Genet.,1996

4. Polyalanine expansion and frameshift mutations of the paired-like homeoBox gene PHOX2B in congenital central hypoventilation syndrome;Amiel;Nat. Genet.,2003

5. Hirschsprung disease, associated syndromes and genetics: a review;Amiel;J. Med. Genet.,2008

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