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Literature DB >> 2918536

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

Abstract

Three cases of interstitial deletion of chromosome 13 involving the common segment 13q22.1----q32.1 are reported. In addition to the recognised clinical features of this deletion, two had Hirschsprung's disease.

Entities: Disease

Mesh：

Year: 1989 PMID： 2918536 PMCID： PMC1015558 DOI： 10.1136/jmg.26.2.100

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

9 in total

1. 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

2. A rapid banding technique for human chromosomes.

Authors: M Seabright
Journal: Lancet Date: 1971-10-30 Impact factor: 79.321

3. Interstitial deletion of long arm of chromosome 13.

Authors: A Carnevale; S Frias; R Alcantar
Journal: Ann Genet Date: 1984

4. A 13q- syndrome with extensive intestinal atresia.

Authors: A Nishikawa; T Mitomori; A Matsuura; A Inoue; H Mori; M Takahashi
Journal: Acta Paediatr Scand Date: 1985-03

5. Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31.

Authors: E Yunis; R Zuñiga; E Ramírez
Journal: Hum Genet Date: 1981 Impact factor: 4.132

6. The ring chromosome 13 syndrome.

Authors: N J Martin; P J Harvey; J H Pearn
Journal: Hum Genet Date: 1982 Impact factor: 4.132

7. Interstitial deletion 13q syndromes: a report on two unrelated patients.

Authors: M Serena-Lungarotti; A Calabro; G Mariotti; P P Mastroiacovo; S Provenzano; B Dallapiccola
Journal: Hum Genet Date: 1979 Impact factor: 4.132

8. Retinoblastoma and subband deletion of chromosome 13.

Authors: J J Yunis; N Ramsay
Journal: Am J Dis Child Date: 1978-02

9. 13q- syndrome. Family study.

Authors: A Carmichael; D P Addy; W R Shortland-Webb; A H Cameron; I C Davies
Journal: Arch Dis Child Date: 1977-12 Impact factor: 3.791

9 in total

17 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

3. 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

Review 4. 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

5. Association of 13q deletion and Hirschsprung's disease.

Authors: P Kiss; M Osztovics
Journal: J Med Genet Date: 1989-12 Impact factor: 6.318

6. Are abortions more or less frequent once prenatal diagnosis is available?

Authors: S Bundey; E Boughton
Journal: J Med Genet Date: 1989-12 Impact factor: 6.318

7. A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene.

Authors: Trassanee Chatmethakul; Rozaleen Phaltas; Gwen Minzes; Jose Martinez; Ramachandra Bhat
Journal: J Pediatr Genet Date: 2019-01-14