Literature DB >> 4224912

The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.

E Passarge.   

Abstract

Entities:  

Mesh：

Year:  1967        PMID： 4224912     DOI： 10.1056/NEJM196701192760303

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  53 in total

1.  Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.

Authors:  S Borrego; M E Sáez; A Ruiz; O Gimm; M López-Alonso; G Antiñolo; C Eng
Journal:  J Med Genet       Date:  1999-10       Impact factor: 6.318

2.  RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.

Authors:  S Borrego; A Ruiz; M E Saez; O Gimm; X Gao; M López-Alonso; A Hernández; F A Wright; G Antiñolo; C Eng
Journal:  J Med Genet       Date:  2000-08       Impact factor: 6.318

3.  Increased smooth muscle contractility of intestine in the genetic null of the endothelin ETB receptor: a rat model for long segment Hirschsprung's disease.

Authors:  K-J Won; S Torihashi; M Mitsui-Saito; M Hori; K Sato; T Suzuki; H Ozaki; H Karaki
Journal:  Gut       Date:  2002-03       Impact factor: 23.059

Review 4.  Hirschsprung disease, associated syndromes, and genetics: a review.

Authors:  J Amiel; S Lyonnet
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

5.  Letter: Hirschsprung's disease and congenital deafness.

Authors:  R B Lowry
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

6.  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.

Authors:  Salud Borrego; Fred A Wright; Raquel M Fernández; Nita Williams; Manuel López-Alonso; Ramana Davuluri; Guillermo Antiñolo; Charis Eng
Journal:  Am J Hum Genet       Date:  2002-12-09       Impact factor: 11.025

7.  Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation.

Authors:  Tonia C Carter; Denise M Kay; Marilyn L Browne; Aiyi Liu; Paul A Romitti; Devon Kuehn; Mary R Conley; Michele Caggana; Charlotte M Druschel; Lawrence C Brody; James L Mills
Journal:  J Hum Genet       Date:  2012-05-31       Impact factor: 3.172

Review 8.  Enteric nervous system and developmental abnormalities in childhood.

Authors:  Thambipillai Sri Paran; Udo Rolle; Prem Puri
Journal:  Pediatr Surg Int       Date:  2006-12       Impact factor: 1.827

9.  Oncological implications of RET gene mutations in Hirschsprung's disease.

Authors:  R H Sijmons; R M Hofstra; F A Wijburg; T P Links; R P Zwierstra; A Vermey; D C Aronson; G Tan-Sindhunata; G J Brouwers-Smalbraak; S M Maas; C H Buys
Journal:  Gut       Date:  1998-10       Impact factor: 23.059

10.  Children of those treated surgically for Hirschsprung's disease.

Authors:  C O Carter; K Evans; V Hickman
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.