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Journal Abstract Search

649 related items for PubMed ID: 12865758

  • 1. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
    Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MD XZ, Morell R, Nance WE.
    Genet Med; 2003; 5(4):295-303. PubMed ID: 12865758
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  • 2. 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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  • 5. Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.
    Pandya A, O'Brien A, Kovasala M, Bademci G, Tekin M, Arnos KS.
    Mol Genet Genomic Med; 2020 Apr; 8(4):e1171. PubMed ID: 32067424
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  • 10. 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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  • 11. 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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  • 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 24; 69(Pt 1):9-14. PubMed ID: 15638823
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  • 15. 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 24; 196(1-2):115-8. PubMed ID: 15464308
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  • 18. 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 Oct 24; 11(4):347-52. PubMed ID: 18294049
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  • 19. Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.
    Kashef A, Nikzat N, Bazzazadegan N, Fattahi Z, Sabbagh-Kermani F, Taghdiri M, Azadeh B, Mojahedi F, Khoshaeen A, Habibi H, Najmabadi H, Kahrizi K.
    Int J Pediatr Otorhinolaryngol; 2015 Feb 24; 79(2):136-8. PubMed ID: 25555641
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