Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?-Reference-Cited by-同舟云学术

Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?

Published:1994-04-01 Issue:4 Volume:31 Page:325-327
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Fewtrell M S,Tam P K,Thomson A H,Fitchett M,Currie J,Huson S M,Mulligan L M

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. A genetic study of Hirschsprung's disease;Badner, J.; Sieber, W.; Garver, K.;Am Hum Genet,1990

2. Familial occurrence of neuroblastoma, Von Recklinghausen's neurofibromatosis, Hirschsprung's aganglionosis and jawwinking syndrome;Clausen, N.; Andersson, P.; Tommerup, N.;Acta Paediatr Scand,1989

3. The association of Hirschsprung's disease-ganglioneuroma with autonomic nervous system dysfunction in two children;Levard, G.; Boige, N.; Viyoux, C.;Arch Fr Pediatr,1989

4. Hirschsprung's disease in a family with MEN type 2;Verdy, M.; Weber, A.M.; Roy, C.C.;J Paediatr Gastroenterol Nur,1982

5. Germline mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A;Mulligan, L.; Kwok, J.; Healey, C.;Nature,1993

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1. Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development;PLOS Genetics;2021-08-06

2. The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications;Frontiers in Pediatrics;2021-08-05

3. Size matters: large copy number losses reveal novel Hirschsprung disease genes;2020-11-04

4. Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease;Orphanet Journal of Rare Diseases;2019-11-25

5. Congenital intestinal stenosis and Hirschsprung’s disease: two extremely rare pathologies in a newborn puppy;BMC Veterinary Research;2019-03-13