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Journal Abstract Search

137 related items for PubMed ID: 10905664

  • 1. Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates.
    Ben Arab S, Hmani M, Denoyelle F, Boulila-Elgaied A, Chardenoux S, Hachicha S, Petit C, Ayadi H.
    Clin Genet; 2000 Jun; 57(6):439-43. PubMed ID: 10905664
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  • 2. Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.
    Ben Said M, Dhouib H, BenZina Z, Ghorbel A, Moreno F, Masmoudi S, Ayadi H, Hmani-Aifa M.
    Int J Pediatr Otorhinolaryngol; 2012 Jun; 76(6):832-6. PubMed ID: 22429511
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  • 3. Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families.
    Boulila-Elgaïed A, Masmoudi S, Drira M, Gouia M, Chaib H, Petit C, Ayadi H.
    Arch Inst Pasteur Tunis; 1997 Jun; 74(1-2):5-8. PubMed ID: 15945170
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  • 4. A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.
    Riahi Z, Chahed H, Jaafoura H, Zainine R, Messaoud O, Naili M, Nagara M, Hammami H, Laroussi N, Bouyacoub Y, Kefi R, Bonnet C, Besbes G, Abdelhak S.
    Int J Pediatr Otorhinolaryngol; 2013 Sep; 77(9):1485-8. PubMed ID: 23856379
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  • 5. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
    Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJ, Willems PJ, Schatteman I, Capon H, Van De Heyning PJ, Van Camp G.
    J Med Genet; 1998 Feb; 35(2):151-2. PubMed ID: 9507396
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  • 11. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
    del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Tellería D, Menéndez I, Moreno F.
    N Engl J Med; 2002 Jan 24; 346(4):243-9. PubMed ID: 11807148
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  • 12. GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.
    Trabelsi M, Bahri W, Habibi M, Zainine R, Maazoul F, Ghazi B, Chaabouni H, Mrad R.
    Int J Pediatr Otorhinolaryngol; 2013 May 24; 77(5):714-6. PubMed ID: 23434199
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  • 13. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.
    Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milá M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P.
    Hum Mol Genet; 1997 Sep 24; 6(9):1605-9. PubMed ID: 9285800
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  • 14. Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
    de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H.
    Hum Genet; 2003 Feb 24; 112(2):156-63. PubMed ID: 12522556
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  • 17. [Cochlear implantation in a child with congenital sensorineural deafness due to 35 DELG mutation in GJB2 (connexin 26) gene].
    Teriutin FM, Barashkov NA, Dzhemileva LU, Posukh OL, Fedotova EE, Gurinova EE, Fedorova SA, Tavartkiladze GA, Khusnutdinova EK.
    Vestn Otorinolaringol; 2009 Feb 24; (2):17-9. PubMed ID: 19491791
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