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Journal Abstract Search

153 related items for PubMed ID: 16618617

  • 1. A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease.
    Chen WC, Chang SS, Sy ED, Tsai MC.
    J Formos Med Assoc; 2006 Apr; 105(4):349-54. PubMed ID: 16618617
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  • 2. Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.
    Lin YC, Lai HS, Hsu WM, Lee PI, Chen HL, Chang MH.
    J Pediatr Gastroenterol Nutr; 2008 Jan; 46(1):36-40. PubMed ID: 18162831
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  • 3. Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.
    Garcia-Barceló M, Sham MH, Lee WS, Lui VC, Chen BL, Wong KK, Wong JS, Tam PK.
    Clin Chem; 2004 Jan; 50(1):93-100. PubMed ID: 14633923
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  • 8. Clinical and genetic correlations of familial Hirschsprung's disease.
    Moore SW, Zaahl M.
    J Pediatr Surg; 2015 Feb; 50(2):285-8. PubMed ID: 25638620
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  • 11. 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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  • 12. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
    Amiel J, Attié T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fékété C, Munnich A, Lyonnet S.
    Hum Mol Genet; 1996 Mar; 5(3):355-7. PubMed ID: 8852660
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  • 16. Hirschsprung, RET-SOX and beyond: the challenge of examining non-mendelian traits (Review).
    Pusch CM, Sasiadek MM, Blin N.
    Int J Mol Med; 2002 Oct; 10(4):367-70. PubMed ID: 12239580
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  • 19. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
    Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH.
    Nat Genet; 1996 Apr; 12(4):445-7. PubMed ID: 8630503
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