Literature DB >> 8634719

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

T Attié1, M Till, A Pelet, J Amiel, P Edery, L Boutrand, A Munnich, S Lyonnet.   

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Year:  1995        PMID： 8634719     DOI： 10.1093/hmg/4.12.2407

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  42 in total

1.  A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

Authors:  S Bolk; A Pelet; R M Hofstra; M Angrist; R Salomon; D Croaker; C H Buys; S Lyonnet; A Chakravarti
Journal:  Proc Natl Acad Sci U S A       Date:  2000-01-04       Impact factor: 11.205

Review 2.  Hirschsprung disease, associated syndromes, and genetics: a review.

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

Review 3.  Waardenburg syndrome.

Authors:  A P Read; V E Newton
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

4.  Shah Waardenberg syndrome.

Authors:  P R Gupta; S K Chowdhary; K Joshi; R Shukla; K L N Rao
Journal:  Indian J Pediatr       Date:  2002-05       Impact factor: 1.967

5.  Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease.

Authors:  Lauren C Walters; V Ashley Cantrell; Kevin P Weller; Jack T Mosher; E Michelle Southard-Smith
Journal:  Hum Mol Genet       Date:  2010-08-25       Impact factor: 6.150

Review 6.  Genetic basis of Hirschsprung's disease.

Authors:  Paul K H Tam; Mercè Garcia-Barceló
Journal:  Pediatr Surg Int       Date:  2009-06-12       Impact factor: 1.827

Review 7.  Albinism: modern molecular diagnosis.

Authors:  S M Carden; R E Boissy; P J Schoettker; W V Good
Journal:  Br J Ophthalmol       Date:  1998-02       Impact factor: 4.638

8.  Ontogeny of endothelins-1 and -3, their receptors, and endothelin converting enzyme-1 in the early human embryo.

Authors:  M Brand; J M Le Moullec; P Corvol; J M Gasc
Journal:  J Clin Invest       Date:  1998-02-01       Impact factor: 14.808

9.  Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

Authors:  D R Mowat; G D Croaker; D T Cass; B A Kerr; J Chaitow; L C Adès; N L Chia; M J Wilson
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

10.  Abnormalities of the enteric nervous system in heterozygous endothelin B receptor deficient (spotting lethal) rats resembling intestinal neuronal dysplasia.

Authors:  G B T von Boyen; H-J Krammer; A Süss; C Dembowski; H Ehrenreich; T Wedel
Journal:  Gut       Date:  2002-09       Impact factor: 23.059
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