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Journal Abstract Search

225 related items for PubMed ID: 15138456

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  • 2. Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).
    Fitze G, Appelt H, König IR, Görgens H, Stein U, Walther W, Gossen M, Schreiber M, Ziegler A, Roesner D, Schackert HK.
    Hum Mol Genet; 2003 Dec 15; 12(24):3207-14. PubMed ID: 14600022
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  • 4. A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression.
    Griseri P, Bachetti T, Puppo F, Lantieri F, Ravazzolo R, Devoto M, Ceccherini I.
    Hum Mutat; 2005 Feb 15; 25(2):189-95. PubMed ID: 15643606
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  • 5. 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 15; 42(4):322-7. PubMed ID: 15805159
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  • 6. 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 15; 13(3):152-7. PubMed ID: 12939698
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  • 7. RET 3'UTR polymorphisms and its protective role in Hirschsprung disease in southeastern Chinese.
    Pan ZW, Luo CF, Liu ZJ, Li JC.
    J Pediatr Surg; 2012 Sep 15; 47(9):1699-705. PubMed ID: 22974609
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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 15; 37(8):572-8. PubMed ID: 10922382
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  • 12. 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 15; 88(10):4911-6. PubMed ID: 14557473
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  • 13. RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population.
    Liu C, Jin L, Li H, Lou J, Luo C, Zhou X, Li JC.
    J Hum Genet; 2008 Oct 15; 53(9):825-833. PubMed ID: 18612588
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  • 14. 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 15; 72(1):88-100. PubMed ID: 12474140
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  • 15. Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan.
    Wu TT, Tsai TW, Chu CT, Lee ZF, Hung CM, Su CC, Li SY, Hsieh M, Li C.
    J Hum Genet; 2005 Jan 15; 50(4):168-174. PubMed ID: 15834508
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  • 16. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
    Attié T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, Boutrand L, Beldjord C, Nihoul-Fékété C, Munnich A.
    Hum Mol Genet; 1995 Aug 15; 4(8):1381-6. PubMed ID: 7581377
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  • 20. A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.
    Moore SW, Zaahl MG.
    J Pediatr Surg; 2008 Feb 15; 43(2):325-9. PubMed ID: 18280283
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