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Journal Abstract Search

186 related items for PubMed ID: 15611902

  • 1. [Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome].
    Birkenhäger R, Knapp FB, Klenzner T, Aschendorff A, Schipper J.
    Laryngorhinootologie; 2004 Dec; 83(12):831-5. PubMed ID: 15611902
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  • 2. [Evidence of a novel gene for the LAV-syndrome].
    Birkenhäger R, Zimmer AJ, Maier W, Klenzner T, Aschendorff A, Schipper J.
    Laryngorhinootologie; 2007 Feb; 86(2):102-6. PubMed ID: 17131260
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  • 10. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
    Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ.
    Hum Mutat; 2001 May; 17(5):403-11. PubMed ID: 11317356
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  • 11. Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.
    Gillam MP, Bartolone L, Kopp P, Benvenga S.
    Thyroid; 2005 Jul; 15(7):734-41. PubMed ID: 16053392
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  • 12. Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
    López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X.
    Hum Mutat; 2001 Dec; 18(6):548. PubMed ID: 11748854
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  • 13. 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
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  • 14. Genetics and phenomics of Pendred syndrome.
    Bizhanova A, Kopp P.
    Mol Cell Endocrinol; 2010 Jun 30; 322(1-2):83-90. PubMed ID: 20298745
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  • 15. Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.
    Banghova K, Al Taji E, Cinek O, Novotna D, Pourova R, Zapletalova J, Hnikova O, Lebl J.
    Eur J Pediatr; 2008 Jul 30; 167(7):777-83. PubMed ID: 17876604
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  • 17. Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
    López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X.
    Hum Mutat; 2002 Jul 30; 20(1):77-8. PubMed ID: 12112665
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  • 18. Novel mutations in the SLC26A4 gene.
    Busi M, Castiglione A, Taddei Masieri M, Ravani A, Guaran V, Astolfi L, Trevisi P, Ferlini A, Martini A.
    Int J Pediatr Otorhinolaryngol; 2012 Sep 30; 76(9):1249-54. PubMed ID: 22717225
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  • 19. Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
    Pfarr N, Borck G, Turk A, Napiontek U, Keilmann A, Müller-Forell W, Kopp P, Pohlenz J.
    J Clin Endocrinol Metab; 2006 Jul 30; 91(7):2678-81. PubMed ID: 16684826
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  • 20. Pendred syndrome.
    Wémeau JL, Kopp P.
    Best Pract Res Clin Endocrinol Metab; 2017 Mar 30; 31(2):213-224. PubMed ID: 28648509
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