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Low frequency of RET mutations in Hirschsprung disease in Sweden.
Svensson PJ, Molander ML, Eng C, Anvret M, Nordenskjöld A. Svensson PJ, et al. Among authors: eng c. Clin Genet. 1998 Jul;54(1):39-44. doi: 10.1111/j.1399-0004.1998.tb03691.x. Clin Genet. 1998. PMID: 9727738
Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.
Fernandez RM, Boru G, Peciña A, Jones K, López-Alonso M, Antiñolo G, Borrego S, Eng C. Fernandez RM, et al. Among authors: eng c. J Med Genet. 2005 Apr;42(4):322-7. doi: 10.1136/jmg.2004.023960. J Med Genet. 2005. PMID: 15805159 Free PMC article.
Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.
Borrego S, Fernández RM, Dziema H, Niess A, López-Alonso M, Antiñolo G, Eng C. Borrego S, et al. Among authors: eng c. J Med Genet. 2003 Mar;40(3):e18. doi: 10.1136/jmg.40.3.e18. J Med Genet. 2003. PMID: 12624147 Free PMC article. No abstract available.
Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.
Gath R, Goessling A, Keller KM, Koletzko S, Coerdt W, Müntefering H, Wirth S, Hofstra RM, Mulligan L, Eng C, von Deimling A. Gath R, et al. Among authors: eng c. Gut. 2001 May;48(5):671-5. doi: 10.1136/gut.48.5.671. Gut. 2001. PMID: 11302967 Free PMC article.
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.
Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, López-Alonso M, Hernández A, Wright FA, Antiñolo G, Eng C. Borrego S, et al. Among authors: eng c. J Med Genet. 2000 Aug;37(8):572-8. doi: 10.1136/jmg.37.8.572. J Med Genet. 2000. PMID: 10922382 Free PMC article.
Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden.
Svensson PJ, Tapper-Persson M, Anvret M, Molander ML, Eng C, Nordenskjöld A. Svensson PJ, et al. Among authors: eng c. Clin Genet. 1999 Mar;55(3):215-7. doi: 10.1034/j.1399-0004.1999.550312.x. Clin Genet. 1999. PMID: 10334478 No abstract available.
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
Bidaud C, Salomon R, Van Camp G, Pelet A, Attié T, Eng C, Bonduelle M, Amiel J, Nihoul-Fékété C, Willems PJ, Munnich A, Lyonnet S. Bidaud C, et al. Among authors: eng c. Eur J Hum Genet. 1997 Jul-Aug;5(4):247-51. Eur J Hum Genet. 1997. PMID: 9359047
Cloning and characterization of the human GFRA2 locus and investigation of the gene in Hirschsprung disease.
Vanhorne JB, Gimm O, Myers SM, Kaushik A, von Deimling A, Eng C, Mulligan LM. Vanhorne JB, et al. Among authors: eng c. Hum Genet. 2001 May;108(5):409-15. doi: 10.1007/s004390100506. Hum Genet. 2001. PMID: 11409869
Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tumeurs a Calcitonine.
Schuffenecker I, Ginet N, Goldgar D, Eng C, Chambe B, Boneu A, Houdent C, Pallo D, Schlumberger M, Thivolet C, Lenoir GM. Schuffenecker I, et al. Among authors: eng c. Am J Hum Genet. 1997 Jan;60(1):233-7. Am J Hum Genet. 1997. PMID: 8981969 Free PMC article. No abstract available.
De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.
Ivanchuk SM, Myers SM, Eng C, Mulligan LM. Ivanchuk SM, et al. Among authors: eng c. Hum Mol Genet. 1996 Dec;5(12):2023-6. doi: 10.1093/hmg/5.12.2023. Hum Mol Genet. 1996. PMID: 8968758
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