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Journal Abstract Search

783 related items for PubMed ID: 11807148

  • 1. 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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  • 2. 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 Jan 24; 11(4):347-52. PubMed ID: 18294049
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  • 3. Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.
    Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S.
    Hear Res; 2005 Dec 24; 210(1-2):80-4. PubMed ID: 16243461
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  • 5. 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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  • 7. 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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  • 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 13; 207(1-2):43-9. PubMed ID: 15964725
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  • 10. 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 Sep 13; 5(4):295-303. PubMed ID: 12865758
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  • 13. 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 13; 74(3):250-4. PubMed ID: 20022641
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  • 14. Connexin-30 deletion analysis in connexin-26 heterozygotes.
    Stevenson VA, Ito M, Milunsky JM.
    Genet Test; 2003 Mar 13; 7(2):151-4. PubMed ID: 12885339
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  • 15. Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.
    Stinckens C, Kremer H, van Wijk E, Hoefsloot LH, Huygen PL, Standaert L, Fryns JP, Cremers CW.
    Ann Otol Rhinol Laryngol; 2004 Jul 13; 113(7):587-93. PubMed ID: 15274422
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  • 16. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
    Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F.
    Am J Hum Genet; 2003 Dec 13; 73(6):1452-8. PubMed ID: 14571368
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  • 17. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.
    Wu BL, Kenna M, Lip V, Irons M, Platt O.
    Am J Med Genet A; 2003 Aug 30; 121A(2):102-8. PubMed ID: 12910486
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  • 19. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
    Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T, Otto PA, Mingroni-Netto RC.
    Ear Hear; 2009 Feb 30; 30(1):1-7. PubMed ID: 19125024
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