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Journal Abstract Search


303 related items for PubMed ID: 9585428

  • 21. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.
    Auricchio A, Casari G, Staiano A, Ballabio A.
    Hum Mol Genet; 1996 Mar; 5(3):351-4. PubMed ID: 8852659
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  • 22. Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.
    Syrris P, Carter ND, Patton MA.
    Am J Med Genet; 1999 Nov 05; 87(1):69-71. PubMed ID: 10528251
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  • 23. Dominant inheritance of overo spotting in paint horses.
    Bowling AT.
    J Hered; 1994 Nov 05; 85(3):222-4. PubMed ID: 8014463
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  • 24. Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease.
    Gariepy CE, Williams SC, Richardson JA, Hammer RE, Yanagisawa M.
    J Clin Invest; 1998 Sep 15; 102(6):1092-101. PubMed ID: 9739043
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  • 26. A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.
    Matsushima Y, Shinkai Y, Kobayashi Y, Sakamoto M, Kunieda T, Tachibana M.
    Mamm Genome; 2002 Jan 15; 13(1):30-5. PubMed ID: 11773966
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  • 29. Ileocolonic aganglionosis in an overo foal.
    Julian AF.
    N Z Vet J; 1994 Apr 01; 42(2):75-76. PubMed ID: 22133156
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  • 30. Exclusion of EDNRB and KIT as the basis for white spotting in Border Collies.
    Metallinos D, Rine J.
    Genome Biol; 2000 Apr 01; 1(2):RESEARCH0004. PubMed ID: 11178229
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  • 34. 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 01; 12(4):445-7. PubMed ID: 8630503
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  • 35. Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness.
    Henkel J, Lafayette C, Brooks SA, Martin K, Patterson-Rosa L, Cook D, Jagannathan V, Leeb T.
    Anim Genet; 2019 Apr 01; 50(2):172-174. PubMed ID: 30644113
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  • 36. Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.
    Reissmann M, Ludwig A.
    Semin Cell Dev Biol; 2013 Apr 01; 24(6-7):576-86. PubMed ID: 23583561
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  • 37. [From monogenic to polygenic: model of Hirschsprung disease].
    Salomon R, Amiel J, Attié T, Pelet A, Munnich A, Lyonnet S.
    Pathol Biol (Paris); 1998 Nov 01; 46(9):705-7. PubMed ID: 9885824
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  • 38. Coat Color Roan Shows Association with KIT Variants and No Evidence of Lethality in Icelandic Horses.
    Voß K, Tetens J, Thaller G, Becker D.
    Genes (Basel); 2020 Jun 22; 11(6):. PubMed ID: 32580410
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