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Journal Abstract Search

225 related items for PubMed ID: 15138456

  • 21. 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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  • 22. Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles.
    Lantieri F, Griseri P, Puppo F, Campus R, Martucciello G, Ravazzolo R, Devoto M, Ceccherini I.
    Ann Hum Genet; 2006 Jan; 70(Pt 1):12-26. PubMed ID: 16441254
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  • 23. Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
    Sribudiani Y, Chauhan RK, Alves MM, Petrova L, Brosens E, Harrison C, Wabbersen T, de Graaf BM, Rügenbrink T, Burzynski G, Brouwer RWW, van IJcken WFJ, Maas SM, de Klein A, Osinga J, Eggen BJL, Burns AJ, Brooks AS, Shepherd IT, Hofstra RMW.
    Gastroenterology; 2018 Jul; 155(1):118-129.e6. PubMed ID: 29601828
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  • 24. 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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  • 27. Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.
    Basel-Vanagaite L, Pelet A, Steiner Z, Munnich A, Rozenbach Y, Shohat M, Lyonnet S.
    Eur J Hum Genet; 2007 Feb; 15(2):242-5. PubMed ID: 17091122
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  • 28. 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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  • 29. 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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  • 30. 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 Sep 04; 15(5):418-29. PubMed ID: 10790203
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  • 33. Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation.
    Moore SW, Zaahl M.
    J Pediatr Surg; 2010 Feb 04; 45(2):393-6. PubMed ID: 20152359
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  • 35. Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility.
    Angrist M, Jing S, Bolk S, Bentley K, Nallasamy S, Halushka M, Fox GM, Chakravarti A.
    Genomics; 1998 Mar 15; 48(3):354-62. PubMed ID: 9545641
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  • 36. Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification).
    Serra A, Görgens H, Alhadad K, Ziegler A, Fitze G, Schackert HK.
    Ann Hum Genet; 2009 Mar 15; 73(2):147-51. PubMed ID: 19183406
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  • 38. Genetic mosaicism of a frameshift mutation in the RET gene in a family with Hirschsprung disease.
    Müller CM, Haase MG, Kemnitz I, Fitze G.
    Gene; 2014 May 10; 541(1):51-4. PubMed ID: 24613280
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  • 39. Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.
    Hyndman BD, Gujral TS, Krieger JR, Cockburn JG, Mulligan LM.
    Hum Mutat; 2013 Jan 10; 34(1):132-42. PubMed ID: 22837065
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