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Journal Abstract Search

233 related items for PubMed ID: 15954104

  • 1. Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
    Snoeckx RL, Hassan DM, Kamal NM, Van Den Bogaert K, Van Camp G.
    Hum Mutat; 2005 Jul; 26(1):60-1. PubMed ID: 15954104
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  • 4. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
    Birkenhäger R, Lüblinghoff N, Prera E, Schild C, Aschendorff A, Arndt S.
    Am J Med Genet A; 2010 Jul; 152A(7):1798-802. PubMed ID: 20583176
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  • 5. 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; 77(5):714-6. PubMed ID: 23434199
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  • 6. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.
    Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat A.
    Int J Pediatr Otorhinolaryngol; 2007 Aug; 71(8):1239-45. PubMed ID: 17553572
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  • 7. First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.
    Al-Achkar W, Al-Halabi B, Ali B, Moassass F.
    Int J Pediatr Otorhinolaryngol; 2017 Jan; 92():82-87. PubMed ID: 28012540
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  • 9. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.
    Frei K, Ramsebner R, Lucas T, Baumgartner WD, Schoefer C, Wachtler FJ, Kirschhofer K.
    Hear Res; 2004 Oct; 196(1-2):115-8. PubMed ID: 15464308
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  • 10. GJB2: the spectrum of deafness-causing allele variants and their phenotype.
    Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo I, Van Camp G, Smith RJ.
    Hum Mutat; 2004 Oct; 24(4):305-11. PubMed ID: 15365987
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  • 11. GJB2 mutations: passage through Iran.
    Najmabadi H, Nishimura C, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi A, Farhadi M, Mohseni M, Mahdieh N, Ebrahimi A, Bazazzadegan N, Naghavi A, Avenarius M, Arzhangi S, Smith RJ.
    Am J Med Genet A; 2005 Mar 01; 133A(2):132-7. PubMed ID: 15666300
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  • 12. Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.
    Belintani Piatto V, Maria Goloni Bertollo E, Lúcia Sartorato E, Victor Maniglia J.
    Hear Res; 2004 Oct 01; 196(1-2):87-93. PubMed ID: 15464305
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  • 13. Unique spectrum of GJB2 mutations in Mexico.
    de la Luz Arenas-Sordo M, Menendez I, Hernández-Zamora E, Sirmaci A, Gutiérrez-Tinajero D, McGetrick M, Murphy-Ruiz P, Leyva-Juárez X, Huesca-Hernández F, Dominguez-Aburto J, Tekin M.
    Int J Pediatr Otorhinolaryngol; 2012 Nov 01; 76(11):1678-80. PubMed ID: 22925408
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  • 14. Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.
    Dalamón V, Béhèran A, Diamante F, Pallares N, Diamante V, Elgoyhen AB.
    Hear Res; 2005 Sep 01; 207(1-2):43-9. PubMed ID: 15964725
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  • 15. Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.
    Ammar-Khodja F, Faugère V, Baux D, Giannesini C, Léonard S, Makrelouf M, Malek R, Djennaoui D, Zenati A, Claustres M, Roux AF.
    Eur J Med Genet; 2009 Sep 01; 52(4):174-9. PubMed ID: 19375528
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  • 16. C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment.
    Medica I, Rudolf G, Balaban M, Peterlin B.
    BMC Ear Nose Throat Disord; 2005 Dec 08; 5():11. PubMed ID: 16336662
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  • 17. Double heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population.
    Seeman P, Bendová O, Rasková D, Malíková M, Groh D, Kabelka Z.
    Ann Hum Genet; 2005 Jan 08; 69(Pt 1):9-14. PubMed ID: 15638823
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  • 20. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.
    Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D.
    Hum Mutat; 2001 Nov 08; 18(5):460. PubMed ID: 11668644
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