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Journal Abstract Search

155 related items for PubMed ID: 11375792

  • 21. Molecular analysis of the PDS gene in Pendred syndrome.
    Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC.
    Hum Mol Genet; 1998 Jul; 7(7):1105-12. PubMed ID: 9618167
    [Abstract] [Full Text] [Related]

  • 22. Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
    Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H.
    Am J Med Genet; 2000 Jan 03; 90(1):38-44. PubMed ID: 10602116
    [Abstract] [Full Text] [Related]

  • 23. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
    Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabédian EN, Marlin S.
    Clin Genet; 2004 Oct 03; 66(4):333-40. PubMed ID: 15355436
    [Abstract] [Full Text] [Related]

  • 24. Pendred's syndrome.
    Hashmi MI, Khan MJ, Abbasi N, Cheema IA, Qasim G.
    J Coll Physicians Surg Pak; 2003 Aug 03; 13(8):463-4. PubMed ID: 12921687
    [Abstract] [Full Text] [Related]

  • 25. Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan.
    Lai CC, Chiu CY, Shiao AS, Tso YC, Wu YC, Tu TY, Jap TS.
    Metabolism; 2007 Sep 03; 56(9):1279-84. PubMed ID: 17697873
    [Abstract] [Full Text] [Related]

  • 26. Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene.
    Sato E, Nakashima T, Miura Y, Furuhashi A, Nakayama A, Mori N, Murakami H, Naganawa S, Tadokoro M.
    Eur J Endocrinol; 2001 Dec 03; 145(6):697-703. PubMed ID: 11720893
    [Abstract] [Full Text] [Related]

  • 27. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
    Nonose RW, Lezirovitz K, de Mello Auricchio MTB, Batissoco AC, Yamamoto GL, Mingroni-Netto RC.
    BMC Med Genet; 2018 May 08; 19(1):73. PubMed ID: 29739340
    [Abstract] [Full Text] [Related]

  • 28. Genetics and phenomics of Pendred syndrome.
    Bizhanova A, Kopp P.
    Mol Cell Endocrinol; 2010 Jun 30; 322(1-2):83-90. PubMed ID: 20298745
    [Abstract] [Full Text] [Related]

  • 29. Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux.
    Gillam MP, Sidhaye AR, Lee EJ, Rutishauser J, Stephan CW, Kopp P.
    J Biol Chem; 2004 Mar 26; 279(13):13004-10. PubMed ID: 14715652
    [Abstract] [Full Text] [Related]

  • 30. Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
    Palos F, García-Rendueles ME, Araujo-Vilar D, Obregon MJ, Calvo RM, Cameselle-Teijeiro J, Bravo SB, Perez-Guerra O, Loidi L, Czarnocka B, Alvarez P, Refetoff S, Dominguez-Gerpe L, Alvarez CV, Lado-Abeal J.
    J Clin Endocrinol Metab; 2008 Jan 26; 93(1):267-77. PubMed ID: 17940114
    [Abstract] [Full Text] [Related]

  • 31. Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
    Taylor JP, Metcalfe RA, Watson PF, Weetman AP, Trembath RC.
    J Clin Endocrinol Metab; 2002 Apr 26; 87(4):1778-84. PubMed ID: 11932316
    [Abstract] [Full Text] [Related]

  • 32. The variable intrafamiliar expressivity in Pendred's syndrome.
    Johnsen T, Sørensen MS, Feldt-Rasmussen U, Friis J.
    Clin Otolaryngol Allied Sci; 1989 Oct 26; 14(5):395-9. PubMed ID: 2582634
    [Abstract] [Full Text] [Related]

  • 33. SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
    Anwar S, Riazuddin S, Ahmed ZM, Tasneem S, Ateeq-ul-Jaleel, Khan SY, Griffith AJ, Friedman TB, Riazuddin S.
    J Hum Genet; 2009 May 26; 54(5):266-70. PubMed ID: 19287372
    [Abstract] [Full Text] [Related]

  • 34. [Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies].
    Banghová K, Al TE, Novotná D, Zapletalová J, Hníková O, Cáp J, Klabochová J, Kúseková M, Lebl J.
    Cas Lek Cesk; 2008 May 26; 147(12):616-22. PubMed ID: 19235486
    [Abstract] [Full Text] [Related]

  • 35. Clinical and molecular characteristics of Pendred syndrome.
    Kopp P, Bizhanova A.
    Ann Endocrinol (Paris); 2011 Apr 26; 72(2):88-94. PubMed ID: 21511235
    [Abstract] [Full Text] [Related]

  • 36. Pendred syndrome and iodide transport in the thyroid.
    Kopp P, Pesce L, Solis-S JC.
    Trends Endocrinol Metab; 2008 Sep 26; 19(7):260-8. PubMed ID: 18692402
    [Abstract] [Full Text] [Related]

  • 37. Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
    Ladsous M, Vlaeminck-Guillem V, Dumur V, Vincent C, Dubrulle F, Dhaenens CM, Wémeau JL.
    Thyroid; 2014 Apr 26; 24(4):639-48. PubMed ID: 24224479
    [Abstract] [Full Text] [Related]

  • 38. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear.
    Everett LA, Morsli H, Wu DK, Green ED.
    Proc Natl Acad Sci U S A; 1999 Aug 17; 96(17):9727-32. PubMed ID: 10449762
    [Abstract] [Full Text] [Related]

  • 39. The role of pendrin in iodide regulation.
    Fugazzola L, Cerutti N, Mannavola D, Vannucchi G, Beck-Peccoz P.
    Exp Clin Endocrinol Diabetes; 2001 Aug 17; 109(1):18-22. PubMed ID: 11573133
    [Abstract] [Full Text] [Related]

  • 40. Hereditary hearing loss with thyroid abnormalities.
    Choi BY, Muskett J, King KA, Zalewski CK, Shawker T, Reynolds JC, Butman JA, Brewer CC, Stewart AK, Alper SL, Griffith AJ.
    Adv Otorhinolaryngol; 2011 Aug 17; 70():43-49. PubMed ID: 21358184
    [Abstract] [Full Text] [Related]

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