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Journal Abstract Search

441 related items for PubMed ID: 15464305

  • 1. 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; 196(1-2):87-93. PubMed ID: 15464305
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  • 2. 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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  • 3. Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo-Brazil.
    Cordeiro-Silva Mde F, Barbosa A, Santiago M, Provetti M, Rabbi-Bortolini E.
    Braz J Otorhinolaryngol; 2010 Oct; 76(4):428-32. PubMed ID: 20835527
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  • 4. Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.
    Cordeiro-Silva Mde F, Barbosa A, Santiago M, Provetti M, Dettogni RS, Tovar TT, Rabbi-Bortolini E, Louro ID.
    Mol Biol Rep; 2011 Feb; 38(2):1309-13. PubMed ID: 20563649
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  • 9. 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; 207(1-2):43-9. PubMed ID: 15964725
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  • 10. Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.
    Utrera R, Ridaura V, Rodríguez Y, Rojas MJ, Mago L, Angeli S, Henríquez O.
    Genet Test; 2007 Sep; 11(4):347-52. PubMed ID: 18294049
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  • 11. 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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  • 13. Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil.
    Esteves MC, de Lima Isaac M, Francisco AM, da Silva Junior WA, Ferreira CA, Dell'Aringa AH.
    Eur Arch Otorhinolaryngol; 2014 Apr; 271(4):695-9. PubMed ID: 23553242
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  • 14. 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; 69(Pt 1):9-14. PubMed ID: 15638823
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  • 15. The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.
    Talbi S, Bonnet C, Boudjenah F, Mansouri MT, Petit C, Ammar Khodja F.
    Int J Pediatr Otorhinolaryngol; 2019 Sep; 124():157-160. PubMed ID: 31200317
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  • 16. The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis.
    Rodriguez-Paris J, Schrijver I.
    Biochem Biophys Res Commun; 2009 Nov 13; 389(2):354-9. PubMed ID: 19723508
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  • 19. Genotyping for Cx26 and Cx30 mutations in cases with congenital hearing loss.
    Evirgen N, Solak M, Dereköy S, Erdoğan M, Yildiz H, Eser B, Arikan S, Erkoç A.
    Genet Test; 2008 Jun 13; 12(2):253-6. PubMed ID: 18554165
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