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Journal Abstract Search

139 related items for PubMed ID: 15513511

  • 1. A pedigree with Pendred syndrome: case report and discussion on hereditary hearing loss.
    Hiyoshi M, Yamane H.
    Acta Otolaryngol Suppl; 2004 Oct; (554):45-6. PubMed ID: 15513511
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  • 2. 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; 56(9):1279-84. PubMed ID: 17697873
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  • 6. Pendred syndrome and iodide transport in the thyroid.
    Kopp P, Pesce L, Solis-S JC.
    Trends Endocrinol Metab; 2008 Sep; 19(7):260-8. PubMed ID: 18692402
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  • 7. The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients.
    Cho MA, Jeong SJ, Eom SM, Park HY, Lee YJ, Park SE, Park SY, Rhee Y, Kang ES, Ahn CW, Cha BS, Lee EJ, Kim KR, Lee HC, Lim SK.
    Endocrine; 2006 Oct; 30(2):237-43. PubMed ID: 17322586
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  • 11. A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
    Pera A, Villamar M, Viñuela A, Gandía M, Medà C, Moreno F, Hernández-Chico C.
    Eur J Hum Genet; 2008 Aug; 16(8):888-96. PubMed ID: 18285825
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  • 13. A mutation in PDS causes non-syndromic recessive deafness.
    Li XC, Everett LA, Lalwani AK, Desmukh D, Friedman TB, Green ED, Wilcox ER.
    Nat Genet; 1998 Mar; 18(3):215-7. PubMed ID: 9500541
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  • 14. 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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  • 15. [Congenital recessive moderate sensorineural hearing loss].
    Vanderstock L.
    Acta Otorhinolaryngol Belg; 1981 Dec; 35(3-4):337-42. PubMed ID: 7345869
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  • 17. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).
    Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED.
    Nat Genet; 1997 Dec; 17(4):411-22. PubMed ID: 9398842
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