Literature DB >> 7264803

White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome.

K N Shah, S J Dalal, M P Desai, P N Sheth, N C Joshi, L M Ambani.   

Abstract

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Year:  1981        PMID： 7264803     DOI： 10.1016/s0022-3476(81)80339-3

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  42 in total

1.  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

Review 2.  Hirschsprung's disease--a review.

Authors:  C M Doig
Journal:  Int J Colorectal Dis       Date:  1991-02       Impact factor: 2.571

3.  Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.

Authors:  Y Nobukuni; A Watanabe; K Takeda; H Skarka; M Tachibana
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  [Genetic bases of Hirschsprung's disease].

Authors:  E Passarge; E Bruder
Journal:  Pathologe       Date:  2007-03       Impact factor: 1.011

5.  A genetic study of Hirschsprung disease.

Authors:  J A Badner; W K Sieber; K L Garver; A Chakravarti
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

6.  A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis.

Authors:  Alexandra Unzicker; Veronique Pingault; Thomas Meyer; Stephan Rauthe; Ansgar Schütz; Steffen Kunzmann
Journal:  Eur J Pediatr       Date:  2011-08-06       Impact factor: 3.183

Review 7.  Hirschsprung's disease as a neurochristopathy.

Authors:  G Martucciello
Journal:  Pediatr Surg Int       Date:  1997       Impact factor: 1.827

8.  Genetic heterogeneity in Waardenburg's syndrome.

Authors:  M L Kulkarni; M Kurian; G Guruprasad; M S Panchakshariah
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

9.  Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Authors:  Nadege Bondurand; Florence Dastot-Le Moal; Laure Stanchina; Nathalie Collot; Viviane Baral; Sandrine Marlin; Tania Attie-Bitach; Irina Giurgea; Laurent Skopinski; William Reardon; Annick Toutain; Pierre Sarda; Anis Echaieb; Marilyn Lackmy-Port-Lis; Renaud Touraine; Jeanne Amiel; Michel Goossens; Veronique Pingault
Journal:  Am J Hum Genet       Date:  2007-10-22       Impact factor: 11.025

10.  Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.

Authors:  T Attié; M Till; A Pelet; P Edery; J P Bonnet; A Munnich; S Lyonnet
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318
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