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Journal Abstract Search

206 related items for PubMed ID: 14727345

  • 1. Syndromic and non-syndromic deafness, molecular aspects of Pendred syndrome and its reported mutations.
    Shaukat S, Fatima Z, Zehra U, Waqar AB.
    J Ayub Med Coll Abbottabad; 2003; 15(3):59-64. PubMed ID: 14727345
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  • 2. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
    Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R.
    Nat Genet; 1996 Apr; 12(4):421-3. PubMed ID: 8630497
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  • 3. 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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  • 4. A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.
    Alasti F, Sanati MH, Behrouzifard AH, Sadeghi A, de Brouwer AP, Kremer H, Smith RJ, Van Camp G.
    Int J Pediatr Otorhinolaryngol; 2008 Feb; 72(2):249-55. PubMed ID: 18022253
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  • 5. 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
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  • 7. 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 03; 18(3):215-7. PubMed ID: 9500541
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  • 8. 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 03; 17(5):403-11. PubMed ID: 11317356
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  • 10. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.
    Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B.
    Nat Genet; 1996 Apr 03; 12(4):424-6. PubMed ID: 8630498
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  • 11. Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.
    Wu CC, Lu YC, Chen PJ, Yeh PL, Su YN, Hwu WL, Hsu CJ.
    Audiol Neurootol; 2010 Apr 03; 15(1):57-66. PubMed ID: 19648736
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  • 13. 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 03; 17(4):411-22. PubMed ID: 9398842
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  • 17. 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
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