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Journal Abstract Search

329 related items for PubMed ID: 9482292

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  • 2. Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
    Gravina LP, Foncuberta ME, Prieto ME, Garrido J, Barreiro C, Chertkoff L.
    Int J Pediatr Otorhinolaryngol; 2010 Mar; 74(3):250-4. PubMed ID: 20022641
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  • 7. The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece.
    Lucotte G, Diéterlen F.
    Genet Test; 2005 Mar; 9(1):20-5. PubMed ID: 15857182
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  • 8. 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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  • 10. The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.
    Liu XZ, Xia XJ, Ke XM, Ouyang XM, Du LL, Liu YH, Angeli S, Telischi FF, Nance WE, Balkany T, Xu LR.
    Hum Genet; 2002 Oct; 111(4-5):394-7. PubMed ID: 12384781
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  • 11. Prevalence of GJB2 mutations in prelingual deafness in the Greek population.
    Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N, Eleftheriades N, Tsakanikos M, Antoniadi T, Hatzaki A, Konstantopoulou I, Yannoukakos D, Gronskov K, Brondum-Nielsen K, Grigoriadou M, Gyftodimou J, Iliades T, Skevas A, Petersen MB.
    Int J Pediatr Otorhinolaryngol; 2002 Sep 02; 65(2):101-8. PubMed ID: 12176179
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  • 12. A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
    Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G.
    J Med Genet; 2004 Mar 02; 41(3):147-54. PubMed ID: 14985372
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  • 13. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.
    Gasparini P, Rabionet R, Barbujani G, Melçhionda S, Petersen M, Brøndum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X.
    Eur J Hum Genet; 2000 Jan 02; 8(1):19-23. PubMed ID: 10713883
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  • 15. 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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  • 17. Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene.
    Rabionet R, Estivill X.
    J Med Genet; 1999 Mar 24; 36(3):260-1. PubMed ID: 10204859
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  • 18. The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.
    Petersen MB, Grigoriadou M, Koutroumpe M, Kokotas H.
    Int J Pediatr Otorhinolaryngol; 2012 Jul 24; 76(7):969-71. PubMed ID: 22484064
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