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Journal Abstract Search

199 related items for PubMed ID: 11303518

  • 1.
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  • 2. ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
    Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM.
    Am J Med Genet; 2002 Mar 15; 108(3):223-5. PubMed ID: 11891690
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  • 4. Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease.
    Kusafuka T, Puri P.
    Pediatr Surg Int; 1997 Mar 15; 12(1):19-23. PubMed ID: 9035203
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  • 6. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
    Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Augé J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, Vekemans M, Lyonnet S.
    Am J Hum Genet; 2000 May 15; 66(5):1496-503. PubMed ID: 10762540
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  • 7. Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.
    Verheij JB, Sival DA, van der Hoeven JH, Vos YJ, Meiners LC, Brouwer OF, van Essen AJ.
    Eur J Paediatr Neurol; 2006 Jan 15; 10(1):11-7. PubMed ID: 16504559
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  • 8. 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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  • 10. A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome.
    Boardman JP, Syrris P, Holder SE, Robertson NJ, Carter N, Lakhoo K.
    J Med Genet; 2001 Sep 15; 38(9):646-7. PubMed ID: 11565556
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  • 11. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.
    Southard-Smith EM, Kos L, Pavan WJ.
    Nat Genet; 1998 Jan 15; 18(1):60-4. PubMed ID: 9425902
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  • 14. Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.
    Bondurand N, Fouquet V, Baral V, Lecerf L, Loundon N, Goossens M, Duriez B, Labrune P, Pingault V.
    Eur J Hum Genet; 2012 Sep 15; 20(9):990-4. PubMed ID: 22378281
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  • 15. SOX10 mutations in patients with Waardenburg-Hirschsprung disease.
    Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M.
    Nat Genet; 1998 Feb 15; 18(2):171-3. PubMed ID: 9462749
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  • 16. EDNRB/EDN3 and Hirschsprung disease type II.
    McCallion AS, Chakravarti A.
    Pigment Cell Res; 2001 Jun 15; 14(3):161-9. PubMed ID: 11434563
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  • 17. Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.
    Sham MH, Lui VC, Chen BL, Fu M, Tam PK.
    J Med Genet; 2001 Sep 15; 38(9):E30. PubMed ID: 11546831
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  • 18. 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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  • 19. 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 05; 5(3):355-7. PubMed ID: 8852660
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  • 20. Altered endothelin-3 and endothelin-B receptor mRNA expression in Hirschsprung's disease.
    Oue T, Puri P.
    J Pediatr Surg; 1999 Aug 05; 34(8):1257-60. PubMed ID: 10466607
    [Abstract] [Full Text] [Related]

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