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Journal Abstract Search


307 related items for PubMed ID: 15805159

  • 1. 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.
    J Med Genet; 2005 Apr; 42(4):322-7. PubMed ID: 15805159
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  • 4. Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset.
    McWhinney SR, Boru G, Binkley PK, Peczkowska M, Januszewicz AA, Neumann HP, Eng C.
    J Clin Endocrinol Metab; 2003 Oct; 88(10):4911-6. PubMed ID: 14557473
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  • 5. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.
    Borrego S, Wright FA, Fernández RM, Williams N, López-Alonso M, Davuluri R, Antiñolo G, Eng C.
    Am J Hum Genet; 2003 Jan; 72(1):88-100. PubMed ID: 12474140
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  • 8. Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.
    Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CH, Hofstra RM.
    Eur J Hum Genet; 2004 Aug; 12(8):604-12. PubMed ID: 15138456
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  • 9. Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China.
    Liu CP, Li XG, Lou JT, Xue Y, Luo CF, Zhou XW, Chen F, Li X, Li M, Li JC.
    J Pediatr Surg; 2009 Sep; 44(9):1805-11. PubMed ID: 19735829
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  • 10. 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.
    J Med Genet; 2000 Aug; 37(8):572-8. PubMed ID: 10922382
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  • 11. Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families.
    Fitze G, Cramer J, Serra A, Schreiber M, Roesner D, Schackert HK.
    Eur J Pediatr Surg; 2003 Jun; 13(3):152-7. PubMed ID: 12939698
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  • 13. Clinical and genetic differences in total colonic aganglionosis in Hirschsprung's disease.
    Moore SW, Zaahl M.
    J Pediatr Surg; 2009 Oct; 44(10):1899-903. PubMed ID: 19853744
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  • 15. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.
    Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, Cutler DJ, Green ED, Chakravarti A.
    Nature; 2005 Apr 14; 434(7035):857-63. PubMed ID: 15829955
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  • 17. The ITGB2 immunomodulatory gene (CD18), enterocolitis, and Hirschsprung's disease.
    Moore SW, Sidler D, Zaahl MG.
    J Pediatr Surg; 2008 Aug 14; 43(8):1439-44. PubMed ID: 18675632
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  • 20. alpha-Synuclein and Parkinson disease susceptibility.
    Winkler S, Hagenah J, Lincoln S, Heckman M, Haugarvoll K, Lohmann-Hedrich K, Kostic V, Farrer M, Klein C.
    Neurology; 2007 Oct 30; 69(18):1745-50. PubMed ID: 17872362
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