Literature DB >> 2614805

Association of 13q deletion and Hirschsprung's disease.

P Kiss, M Osztovics.   

Abstract

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Year:  1989        PMID： 2614805      PMCID： PMC1015769          DOI： 10.1136/jmg.26.12.793

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  2 in total

1.  Hirschsprung's disease, distinctive facies, and microcephaly.

Authors:  A Bankier
Journal:  J Med Genet       Date:  1989-04       Impact factor: 6.318

2.  Interstitial deletion of distal 13q associated with Hirschsprung's disease.

Authors:  M A Lamont; M Fitchett; N R Dennis
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318
  2 in total
  8 in total

Review 1.  Hirschsprung disease, associated syndromes, and genetics: a review.

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

2.  A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Authors:  A Bottani; Y G Xie; F Binkert; A Schinzel
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

Review 3.  Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease.

Authors:  T Kusafuka; P Puri
Journal:  Pediatr Surg Int       Date:  1997       Impact factor: 1.827

Review 4.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 5.  Hirschsprung's disease: clinical and experimental observations.

Authors:  P Puri
Journal:  World J Surg       Date:  1993 May-Jun       Impact factor: 3.352

6.  Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.

Authors:  Diana Mitter; Reinhard Ullmann; Artur Muradyan; Ludger Klein-Hitpass; Deniz Kanber; Katrin Ounap; Marc Kaulisch; Dietmar Lohmann
Journal:  Eur J Hum Genet       Date:  2011-04-20       Impact factor: 4.246

7.  Umbilical cord ulceration in association with intestinal atresia in a child with deletion 13q and Hirschsprung's disease.

Authors:  T Y Khong; W D Ford; E A Haan
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1994-11       Impact factor: 5.747

8.  Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

Authors:  G Van Camp; M N Van Thienen; I Handig; B Van Roy; V S Rao; A Milunsky; A P Read; C T Baldwin; L A Farrer; M Bonduelle
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318
  8 in total

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