Full Text
The Full Text of this article is available as a PDF (124.4 KB).
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Angrist M., Jing S., Bolk S., Bentley K., Nallasamy S., Halushka M., Fox G. M., Chakravarti A. Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. Genomics. 1998 Mar 15;48(3):354–362. doi: 10.1006/geno.1997.5191. [DOI] [PubMed] [Google Scholar]
- Ballard E. T. Ultrashort segment Hirschsprung's disease: a case report. Pediatr Pathol Lab Med. 1996 Mar-Apr;16(2):319–325. [PubMed] [Google Scholar]
- Chakravarti A. Endothelin receptor-mediated signaling in hirschsprung disease. Hum Mol Genet. 1996 Mar;5(3):303–307. [PubMed] [Google Scholar]
- Cord-Udy C. L., Smith V. V., Ahmed S., Risdon R. A., Milla P. J. An evaluation of the role of suction rectal biopsy in the diagnosis of intestinal neuronal dysplasia. J Pediatr Gastroenterol Nutr. 1997 Jan;24(1):1–8. doi: 10.1097/00005176-199701000-00002. [DOI] [PubMed] [Google Scholar]
- Doray B., Salomon R., Amiel J., Pelet A., Touraine R., Billaud M., Attié T., Bachy B., Munnich A., Lyonnet S. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. Hum Mol Genet. 1998 Sep;7(9):1449–1452. doi: 10.1093/hmg/7.9.1449. [DOI] [PubMed] [Google Scholar]
- Hatano M., Aoki T., Dezawa M., Yusa S., Iitsuka Y., Koseki H., Taniguchi M., Tokuhisa T. A novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient mice. J Clin Invest. 1997 Aug 15;100(4):795–801. doi: 10.1172/JCI119593. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hofstra R. M., Osinga J., Buys C. H. Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. Eur J Hum Genet. 1997 Jul-Aug;5(4):180–185. [PubMed] [Google Scholar]
- Hofstra R. M., Valdenaire O., Arch E., Osinga J., Kroes H., Löffler B. M., Hamosh A., Meijers C., Buys C. H. A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet. 1999 Jan;64(1):304–308. doi: 10.1086/302184. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Kapur R. P. Hirschsprung disease and other enteric dysganglionoses. Crit Rev Clin Lab Sci. 1999 Jun;36(3):225–273. doi: 10.1080/10408369991239204. [DOI] [PubMed] [Google Scholar]
- Krishnamurthy S., Heng Y., Schuffler M. D. Chronic intestinal pseudo-obstruction in infants and children caused by diverse abnormalities of the myenteric plexus. Gastroenterology. 1993 May;104(5):1398–1408. doi: 10.1016/0016-5085(93)90348-g. [DOI] [PubMed] [Google Scholar]
- Meier-Ruge W. A., Brunner L. A., Engert J., Heminghaus M., Holschneider A. M., Jordan P., Piket G., Posselt H. G., Schärli A. A correlative morphometric and clinical investigation of hypoganglionosis of the colon in children. Eur J Pediatr Surg. 1999 Apr;9(2):67–74. doi: 10.1055/s-2008-1072216. [DOI] [PubMed] [Google Scholar]
- Myers S. M., Salomon R., Goessling A., Pelet A., Eng C., von Deimling A., Lyonnet S., Mulligan L. M. Investigation of germline GFR alpha-1 mutations in Hirschsprung disease. J Med Genet. 1999 Mar;36(3):217–220. [PMC free article] [PubMed] [Google Scholar]
- Pachnis V., Mankoo B., Costantini F. Expression of the c-ret proto-oncogene during mouse embryogenesis. Development. 1993 Dec;119(4):1005–1017. doi: 10.1242/dev.119.4.1005. [DOI] [PubMed] [Google Scholar]
- Pingault V., Bondurand N., Kuhlbrodt K., Goerich D. E., Préhu M. O., Puliti A., Herbarth B., Hermans-Borgmeyer I., Legius E., Matthijs G. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet. 1998 Feb;18(2):171–173. doi: 10.1038/ng0298-171. [DOI] [PubMed] [Google Scholar]
- Shekitka K. M., Sobin L. H. Ganglioneuromas of the gastrointestinal tract. Relation to Von Recklinghausen disease and other multiple tumor syndromes. Am J Surg Pathol. 1994 Mar;18(3):250–257. [PubMed] [Google Scholar]
- Shirasawa S., Yunker A. M., Roth K. A., Brown G. A., Horning S., Korsmeyer S. J. Enx (Hox11L1)-deficient mice develop myenteric neuronal hyperplasia and megacolon. Nat Med. 1997 Jun;3(6):646–650. doi: 10.1038/nm0697-646. [DOI] [PubMed] [Google Scholar]
- Weinberg A. G. Hirschsprung's disease - a pathologist's view. Perspect Pediatr Pathol. 1975;2:207–239. [PubMed] [Google Scholar]