Literature DB >> 9035201

Hirschsprung's disease as a neurochristopathy.

G Martucciello1.   

Abstract

Recent molecular-genetic and histochemical studies of intestinal aganglionosis have confirmed the initial classification established by Bolande, who considered Hirschsprung's disease (HD) a neurocristopathy. This paper is a critical review of the results of molecular-genetic studies carried out from 1992 to date. In particular, the author focuses on the possible clinical impact of the identification of RET as a causative gene for HD.

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Year:  1997        PMID： 9035201     DOI： 10.1007/BF01194793

Source DB:  PubMed          Journal:  Pediatr Surg Int        ISSN： 0179-0358            Impact factor:   1.827


  65 in total

1.  Screening for multiple endocrine neoplasia type 2a with DNA-polymorphism analysis.

Authors:  H Sobol; S A Narod; Y Nakamura; A Boneu; C Calmettes; D Chadenas; G Charpentier; J F Chatal; N Delepine; M J Delisle
Journal:  N Engl J Med       Date:  1989-10-12       Impact factor: 91.245

2.  Hirschsprung's disease and Waardenburg's syndrome.

Authors:  D Branski; N R Dennis; J M Neale; L J Brooks
Journal:  Pediatrics       Date:  1979-05       Impact factor: 7.124

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

Authors:  K N Shah; S J Dalal; M P Desai; P N Sheth; N C Joshi; L M Ambani
Journal:  J Pediatr       Date:  1981-09       Impact factor: 4.406

4.  The association of Waardenburg syndrome and Hirschsprung megacolon.

Authors:  G S Omenn; V A McKusick
Journal:  Am J Med Genet       Date:  1979

5.  Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

Authors:  L M Mulligan; J B Kwok; C S Healey; M J Elsdon; C Eng; E Gardner; D R Love; S E Mole; J K Moore; L Papi
Journal:  Nature       Date:  1993-06-03       Impact factor: 49.962

6.  Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children.

Authors:  D E Weese-Mayer; J M Silvestri; L J Menzies; A S Morrow-Kenny; C E Hunt; S A Hauptman
Journal:  J Pediatr       Date:  1992-03       Impact factor: 4.406

7.  Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

Authors:  T Attié; A Pelet; P Edery; C Eng; L M Mulligan; J Amiel; L Boutrand; C Beldjord; C Nihoul-Fékété; A Munnich
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

8.  Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families.

Authors:  R McMahon; L M Mulligan; C S Healey; S J Payne; M Ponder; M A Ferguson-Smith; D E Barton; B A Ponder
Journal:  Hum Mol Genet       Date:  1994-04       Impact factor: 6.150

9.  A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.

Authors:  T Attie; A Pelet; P Sarda; C Eng; P Edery; L M Mulligan; B A Ponder; A Munnich; S Lyonnet
Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150

10.  Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate.

Authors:  G G Haddad; N M Mazza; R Defendini; W A Blanc; J M Driscoll; M A Epstein; R A Epstein; R B Mellins
Journal:  Medicine (Baltimore)       Date:  1978-11       Impact factor: 1.889
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  3 in total

1.  Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype.

Authors:  Robert Smigiel; Arleta Lebioda; Dariusz Patkowski; Jerzy Czernik; Tadeusz Dobosz; Karolina Pesz; Monika Kaczmarz; Maria M Sasiadek
Journal:  J Appl Genet       Date:  2006       Impact factor: 3.240

2.  SRY interference of normal regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease.

Authors:  Yunmin Li; Tatsuo Kido; Maria M Garcia-Barcelo; Paul K H Tam; Z Laura Tabatabai; Yun-Fai Chris Lau
Journal:  Hum Mol Genet       Date:  2014-09-28       Impact factor: 6.150

Review 3.  Multiple endocrine neoplasias type 2B and RET proto-oncogene.

Authors:  Giuseppe Martucciello; Margherita Lerone; Lara Bricco; Gian Paolo Tonini; Laura Lombardi; Carmine G Del Rossi; Sergio Bernasconi
Journal:  Ital J Pediatr       Date:  2012-03-19       Impact factor: 2.638
  3 in total

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