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Journal Abstract Search

204 related items for PubMed ID: 12214285

  • 1. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.
    Griseri P, Pesce B, Patrone G, Osinga J, Puppo F, Sancandi M, Hofstra R, Romeo G, Ravazzolo R, Devoto M, Ceccherini I.
    Am J Hum Genet; 2002 Oct; 71(4):969-74. PubMed ID: 12214285
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  • 6. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
    Salomon R, Attié T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fékété C, Munnich A, Lyonnet S.
    Nat Genet; 1996 Nov; 14(3):345-7. PubMed ID: 8896569
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  • 8. 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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  • 10. Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes.
    Munnes M, Fanaei S, Schmitz B, Muiznieks I, Holschneider AM, Doerfler W.
    Am J Med Genet; 2000 Sep 04; 94(1):19-27. PubMed ID: 10982477
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  • 11. [Mutations of RET proto-oncogene in Hirschsprung disease].
    Lyonnet S, Edery P, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fékéte C, Ponder BA, Munnich A.
    C R Acad Sci III; 1994 Apr 04; 317(4):358-62. PubMed ID: 8000915
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  • 13. 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 04; 4(8):1381-6. PubMed ID: 7581377
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  • 14. 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 04; 25(2):189-95. PubMed ID: 15643606
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  • 16. Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease.
    Fitze G, Schierz M, Kuhlisch E, Schreiber M, Ziegler A, Roesner D, Schackert HK.
    Hum Mutat; 2003 Aug 04; 22(2):177. PubMed ID: 12872262
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  • 17. 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.
    Gut; 2001 May 04; 48(5):671-5. PubMed ID: 11302967
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  • 18. Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.
    Peretz H, Luboshitsky R, Baron E, Biton A, Gershoni R, Usher S, Grynberg E, Yakobson E, Graff E, Lapidot M.
    Hum Mutat; 1997 May 04; 10(2):155-9. PubMed ID: 9259198
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  • 20. Segregation at three loci explains familial and population risk in Hirschsprung disease.
    Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attié-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A.
    Nat Genet; 2002 May 04; 31(1):89-93. PubMed ID: 11953745
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