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Journal Abstract Search

199 related items for PubMed ID: 11303518

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  • 23. [Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
    Otręba M, Miliński M, Buszman E, Wrześniok D, Beberok A.
    Postepy Hig Med Dosw (Online); 2013 Nov 26; 67():1109-18. PubMed ID: 24379252
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  • 26. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
    Edery P, Attié T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S.
    Nat Genet; 1996 Apr 26; 12(4):442-4. PubMed ID: 8630502
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  • 27. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
    Issa S, Bondurand N, Faubert E, Poisson S, Lecerf L, Nitschke P, Deggouj N, Loundon N, Jonard L, David A, Sznajer Y, Blanchet P, Marlin S, Pingault V.
    Hum Mutat; 2017 May 26; 38(5):581-593. PubMed ID: 28236341
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  • 29. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
    Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V.
    Am J Hum Genet; 2007 Dec 26; 81(6):1169-85. PubMed ID: 17999358
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  • 31. 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 26; 12(4):445-7. PubMed ID: 8630503
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  • 32. Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.
    Stanchina L, Baral V, Robert F, Pingault V, Lemort N, Pachnis V, Goossens M, Bondurand N.
    Dev Biol; 2006 Jul 01; 295(1):232-49. PubMed ID: 16650841
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  • 33. Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.
    Toki F, Suzuki N, Inoue K, Suzuki M, Hirakata K, Nagai K, Kuroiwa M, Lupski JR, Tsuchida Y.
    Pediatr Surg Int; 2003 Dec 01; 19(11):725-8. PubMed ID: 14691634
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  • 34. Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.
    Van Camp G, Van Thienen MN, Handig I, Van Roy B, Rao VS, Milunsky A, Read AP, Baldwin CT, Farrer LA, Bonduelle M.
    J Med Genet; 1995 Jul 01; 32(7):531-6. PubMed ID: 7562965
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  • 36. SOX10 mutation in Waardenburg syndrome type II.
    Iso M, Fukami M, Horikawa R, Azuma N, Kawashiro N, Ogata T.
    Am J Med Genet A; 2008 Aug 15; 146A(16):2162-3. PubMed ID: 18627047
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