| 1 | CCHS1, CCHS3, CHH, GOSHS, HSCR1, HSCR2, HSCR3, HSCR4, HSCR5, MOWS, PCWH, WS4B, WS4A
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| Hirschsprung disease, associated syndromes and genetics: a review.
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| Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium.
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| J Med Genet 45(1):1-14. Epub 2007 Oct 26. Review. 2008
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| 2 | EDNRB, HSCR2, WS4A
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| Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients.
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| Abe Y, Sakurai T, Yamada T, Nakamura T, Yanagisawa M, Goto K.
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| Biochem Biophys Res Commun 275(2):524-31. 2000
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| 3 | EDNRB, HSCR2
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| Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.
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| Syrris P, Carter ND, Patton MA.
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| Am J Med Genet 87(1):69-71 1999
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| 4 | EDNRB, HSCR2
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| Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization.
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| Tanaka H, et al.
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| J Biol Chem 273 : 11378-11383. 1998
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| 5 | EDNRB, HSCR1, HSCR2, RET
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| Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B).
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| Svensson PJ, et al.
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| Hum Genet 103 : 145-148. 1998
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| 6 | HSCR2, EDNRB
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| Endothelin receptor-mediated signaling in Hirschsprung disease.
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| Chakravarti A.
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| Hum Mol Genet 5 : 303-307. 1996
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| 7 | HSCR2, EDNRB
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| Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.
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| Kusafuka T, et al.
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| Hum Mol Genet 5 : 347-349. 1996
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| 8 | EDNRB, HSCR2
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| Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
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| Amiel J, et al.
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| Hum Mol Genet 5 : 355-357. 1996
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| 9 | EDNRB, HSCR2
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| Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.
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| Auricchio A, et al.
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| Hum Mol Genet 5 : 351-354. 1996
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| 10 | EDNRB, HSCR2
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| Null mutation of endothelin receptor type B gene in spotting lethal ratscauses aganglionic megacolon and white coat color.
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| Gariepy CE, et al.
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| Proc Natl Acad Sci U S A 93 : 867-872. 1996
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| 11 | EDNRB, HSCR2
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| Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.
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| AttiŽ T, et al.
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| Hum Mol Genet 4 : 2407-2409. 1995
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| 12 | HSCR2, HSCR3, WS4A
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| Chromosome 13q deletion with Waardenburg syndrome : further evidence for a gene involved in neural crest function on 13q.
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| Van Camp G, et al.
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| J Med Genet 32 : 531-536. 1995
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| 13 | HSCR2, HSCRM1
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| Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.
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| Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R, et al.
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| Hum Mol Genet 3(8):1217-25. 1994
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| 14 | HSCR2
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| Second locus for Hirschsprung disease/Waardenburg syndrome in a large mennonite kindred.
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| Dow E, et al.
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| Am J Med Genet 53 : 75-80. 1994
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| 15 | EDNRB, HSCR2
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| Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons.
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| Greenstein Baynash A, et al.
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| Cell 79 : 1277-1285. 1994
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| 16 | EDNRB, HSCR2
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| Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice.
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| Hosoda K, et al.
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| Cell 79 : 1267-1276. 1994
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| 17 | HSCR2, EDNRB
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| A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.
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| Puffenberger EG, et al.
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| Cell 79 : 1257-1266. 1994
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