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Journal Abstract Search

134 related items for PubMed ID: 9727738

  • 1. Low frequency of RET mutations in Hirschsprung disease in Sweden.
    Svensson PJ, Molander ML, Eng C, Anvret M, Nordenskjöld A.
    Clin Genet; 1998 Jul; 54(1):39-44. PubMed ID: 9727738
    [Abstract] [Full Text] [Related]

  • 2. 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; 4(8):1381-6. PubMed ID: 7581377
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  • 3. Frequency of RET mutations in long- and short-segment Hirschsprung disease.
    Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G.
    Hum Mutat; 1997 Aug; 9(3):243-9. PubMed ID: 9090527
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  • 4. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
    Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CH, Cass DT, Chakravarti A.
    Hum Mol Genet; 1995 May; 4(5):821-30. PubMed ID: 7633441
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  • 5. RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
    Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, Maas SM, Siderius L, Brooks AS, vd Ende JJ, Heydendael VM, Severijnen RS, Bax KM, Meijers C, Buys CH.
    Hum Mutat; 2000 May; 15(5):418-29. PubMed ID: 10790203
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  • 12. Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies.
    Sakai T, Nirasawa Y, Itoh Y, Wakizaka A.
    Eur J Pediatr; 2000 Mar; 159(3):160-7. PubMed ID: 10664228
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  • 13. Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.
    Borrego S, Sáez ME, Ruiz A, Gimm O, López-Alonso M, Antiñolo G, Eng C.
    J Med Genet; 1999 Oct; 36(10):771-4. PubMed ID: 10528857
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  • 14. Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
    Edery P, Pelet A, Mulligan LM, Abel L, Attié T, Dow E, Bonneau D, David A, Flintoff W, Jan D.
    J Med Genet; 1994 Aug; 31(8):602-6. PubMed ID: 7815416
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  • 15. Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.
    Eng C, Mulligan LM.
    Hum Mutat; 1997 Aug; 9(2):97-109. PubMed ID: 9067749
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  • 16. Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.
    Woodward ER, Eng C, McMahon R, Voutilainen R, Affara NA, Ponder BA, Maher ER.
    Hum Mol Genet; 1997 Jul; 6(7):1051-6. PubMed ID: 9215674
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  • 17. Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement.
    Inoue K, Shimotake T, Iwai N.
    Am J Med Genet; 2000 Aug 14; 93(4):278-84. PubMed ID: 10946353
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  • 18. Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain.
    Iwashita T, Murakami H, Asai N, Takahashi M.
    Hum Mol Genet; 1996 Oct 14; 5(10):1577-80. PubMed ID: 8894691
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  • 19. Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease.
    Guan T, Li JC, Li MJ, Tou JF.
    World J Gastroenterol; 2005 Jan 14; 11(2):275-9. PubMed ID: 15633231
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  • 20. Mutations of the RET proto-oncogene in Hirschsprung's disease.
    Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fékété C, Ponder BA, Munnich A.
    Nature; 1994 Jan 27; 367(6461):378-80. PubMed ID: 8114939
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