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245 related items for PubMed ID: 8852660

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
    Bidaud C, Salomon R, Van Camp G, Pelet A, Attié T, Eng C, Bonduelle M, Amiel J, Nihoul-Fékété C, Willems PJ, Munnich A, Lyonnet S.
    Eur J Hum Genet; 1997 Mar; 5(4):247-51. PubMed ID: 9359047
    [Abstract] [Full Text] [Related]

  • 3. [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; 46(9):705-7. PubMed ID: 9885824
    [Abstract] [Full Text] [Related]

  • 4. [Molecular genetics of Hirschsprung disease: a model of multigenic neurocristopathy].
    Amiel J, Salomon R, Attié-Bitach T, Touraine R, Steffann J, Pelet A, Nihoul-Fékété C, Vekemans M, Munnich A, Lyonnet S.
    J Soc Biol; 2000 Nov; 194(3-4):125-8. PubMed ID: 11324313
    [Abstract] [Full Text] [Related]

  • 5. Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling.
    Fuchs S, Amiel J, Claudel S, Lyonnet S, Corvol P, Pinet F.
    Mol Med; 2001 Feb; 7(2):115-24. PubMed ID: 11471546
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.
    McCallion AS, Stames E, Conlon RA, Chakravarti A.
    Proc Natl Acad Sci U S A; 2003 Feb 18; 100(4):1826-31. PubMed ID: 12574515
    [Abstract] [Full Text] [Related]

  • 9. 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 18; 12(4):442-4. PubMed ID: 8630502
    [Abstract] [Full Text] [Related]

  • 10. Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.
    Kusafuka T, Wang Y, Puri P.
    Hum Mol Genet; 1996 Mar 18; 5(3):347-9. PubMed ID: 8852658
    [Abstract] [Full Text] [Related]

  • 11. EDNRB/EDN3 and Hirschsprung disease type II.
    McCallion AS, Chakravarti A.
    Pigment Cell Res; 2001 Jun 18; 14(3):161-9. PubMed ID: 11434563
    [Abstract] [Full Text] [Related]

  • 12. 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 18; 50(1):93-100. PubMed ID: 14633923
    [Abstract] [Full Text] [Related]

  • 13. Point nucleotidic changes in both the RET proto-oncogene and the endothelin-B receptor gene in a Hirschsprung disease patient associated with Down syndrome.
    Sakai T, Wakizaka A, Nirasawa Y, Ito Y.
    Tohoku J Exp Med; 1999 Jan 18; 187(1):43-7. PubMed ID: 10458491
    [Abstract] [Full Text] [Related]

  • 14. [Molecular basis of Hirschsprung disease].
    Inoue M, Okada A.
    Nihon Rinsho; 1998 Jan 18; 56(1):249-57. PubMed ID: 9465697
    [Abstract] [Full Text] [Related]

  • 15. Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease.
    Kusafuka T, Wang Y, Puri P.
    J Pediatr Surg; 1997 Mar 18; 32(3):501-4. PubMed ID: 9094028
    [Abstract] [Full Text] [Related]

  • 16. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease.
    Puffenberger EG, Hosoda K, Washington SS, Nakao K, deWit D, Yanagisawa M, Chakravart A.
    Cell; 1994 Dec 30; 79(7):1257-66. PubMed ID: 8001158
    [Abstract] [Full Text] [Related]

  • 17. Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients.
    Abe Y, Sakurai T, Yamada T, Nakamura T, Yanagisawa M, Goto K.
    Biochem Biophys Res Commun; 2000 Aug 28; 275(2):524-31. PubMed ID: 10964697
    [Abstract] [Full Text] [Related]

  • 18. Mutational analysis of the endothelin-B receptor gene in Japanese Hirschsprung's disease.
    Inoue M, Hosoda K, Imura K, Kamata S, Fukuzawa M, Nakao K, Okada A.
    J Pediatr Surg; 1998 Aug 28; 33(8):1206-8. PubMed ID: 9721987
    [Abstract] [Full Text] [Related]

  • 19. 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 28; 46(1):36-40. PubMed ID: 18162831
    [Abstract] [Full Text] [Related]

  • 20. Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case.
    Kanai M, Numakura C, Sasaki A, Shirahata E, Akaba K, Hashimoto M, Hasegawa H, Shirasawa S, Hayasaka K.
    Tohoku J Exp Med; 2002 Apr 28; 196(4):241-6. PubMed ID: 12086152
    [Abstract] [Full Text] [Related]

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