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Journal Abstract Search

346 related items for PubMed ID: 28236341

  • 21. Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome.
    Varga L, Danis D, Drsata J, Masindova I, Skopkova M, Slobodova Z, Chrobok V, Profant M, Gasperikova D.
    Int J Pediatr Otorhinolaryngol; 2021 Jan; 140():110499. PubMed ID: 33234331
    [Abstract] [Full Text] [Related]

  • 22. Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
    Zhang H, Chen H, Luo H, An J, Sun L, Mei L, He C, Jiang L, Jiang W, Xia K, Li JD, Feng Y.
    Hum Genet; 2012 Mar; 131(3):491-503. PubMed ID: 21965087
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 24. Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.
    Li L, Ma J, He XL, Zhou YT, Zhang Y, Chen QD, Zhang L, Ruan B, Zhang TS.
    Biosci Rep; 2021 Jun 25; 41(6):. PubMed ID: 33345266
    [Abstract] [Full Text] [Related]

  • 25. A Novel Spontaneous Mutation of the SOX10 Gene Associated with Waardenburg Syndrome Type II.
    Chen S, Jin Y, Xie L, Xie W, Xu K, Qiu Y, Bai X, Zhang HM, Liu XZ, Wang XH, Kong WJ, Sun Y.
    Neural Plast; 2020 Jun 25; 2020():9260807. PubMed ID: 32908492
    [Abstract] [Full Text] [Related]

  • 26. Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
    Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K, Feng Y.
    Biochem Biophys Res Commun; 2010 Jun 18; 397(1):70-4. PubMed ID: 20478267
    [Abstract] [Full Text] [Related]

  • 27. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
    Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M.
    Am J Med Genet A; 2003 Sep 15; 122A(1):42-5. PubMed ID: 12949970
    [Abstract] [Full Text] [Related]

  • 28. A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
    Li S, Qin M, Mao S, Mei L, Cai X, Feng Y, He C, Song J.
    BMC Med Genomics; 2022 Nov 03; 15(1):230. PubMed ID: 36329483
    [Abstract] [Full Text] [Related]

  • 29. Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.
    Tüysüz B, Collin A, Arapoğlu M, Suyugül N.
    Am J Med Genet A; 2009 Oct 03; 149A(10):2290-5. PubMed ID: 19764031
    [Abstract] [Full Text] [Related]

  • 30. Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
    Tekin M, Bodurtha JN, Nance WE, Pandya A.
    Clin Genet; 2001 Oct 03; 60(4):301-4. PubMed ID: 11683776
    [Abstract] [Full Text] [Related]

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  • 32. First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.
    Saberi M, Golchehre Z, Salmani H, Karamzade A, Tabatabaie SZ, Keramatipour M.
    Int J Pediatr Otorhinolaryngol; 2018 Oct 03; 113():229-233. PubMed ID: 30173992
    [Abstract] [Full Text] [Related]

  • 33. A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.
    Shi Y, Li X, Ju D, Li Y, Zhang X, Zhang Y.
    Exp Ther Med; 2016 Apr 03; 11(4):1516-1518. PubMed ID: 27073475
    [Abstract] [Full Text] [Related]

  • 34. [Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].
    Wang L, Mao L, Xu H, Sun S, Zuo B, Lu W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun 10; 40(6):661-667. PubMed ID: 37211999
    [Abstract] [Full Text] [Related]

  • 35. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
    Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C, Wegner M, Goossens M.
    Hum Mol Genet; 2000 Aug 12; 9(13):1907-17. PubMed ID: 10942418
    [Abstract] [Full Text] [Related]

  • 36. 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]

  • 37. Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients.
    Trabelsi M, Nouira M, Maazoul F, Kraoua L, Meddeb R, Ouertani I, Chelly I, Benoit V, Besbes G, Mrad R.
    Int J Pediatr Otorhinolaryngol; 2017 Dec 05; 103():14-19. PubMed ID: 29224756
    [Abstract] [Full Text] [Related]

  • 38. Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
    Somashekar PH, Girisha KM, Nampoothiri S, Gowrishankar K, Devi RR, Gupta N, Narayanan DL, Kaur A, Bajaj S, Jagadeesh S, Lewis LES, Shailaja S, Shukla A.
    Clin Genet; 2019 Mar 05; 95(3):398-402. PubMed ID: 30394532
    [Abstract] [Full Text] [Related]

  • 39. Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.
    Wang J, Lu Y, Yan X, Shen T, Li L, Rao Y, Tan B, Xiong W, Cheng J, Zhao Y, Yuan H.
    Mol Genet Genomic Med; 2021 Sep 05; 9(9):e1770. PubMed ID: 34323021
    [Abstract] [Full Text] [Related]

  • 40. Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.
    Chen K, Wang H, Lai Y.
    Front Endocrinol (Lausanne); 2020 Sep 05; 11():592831. PubMed ID: 33597923
    [Abstract] [Full Text] [Related]

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