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Journal Abstract Search

347 related items for PubMed ID: 15638823

  • 1. 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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  • 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. 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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  • 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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  • 8. 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 13; 30(1):1-7. PubMed ID: 19125024
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  • 9. 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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  • 10. 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 24; 74(3):250-4. PubMed ID: 20022641
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  • 12. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6.
    Bolz H, Schade G, Ehmer S, Kothe C, Hess M, Gal A.
    Hear Res; 2004 Feb 24; 188(1-2):42-6. PubMed ID: 14759569
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  • 13. 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 Feb 24; 11(4):347-52. PubMed ID: 18294049
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  • 16. 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 24; 12(2):253-6. PubMed ID: 18554165
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  • 18. Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
    Loeza-Becerra F, Rivera-Vega Mdel R, Martínez-Saucedo M, Gonzalez-Huerta LM, Urueta-Cuellar H, Berrruecos-Villalobos P, Cuevas-Covarrubias S.
    Int J Pediatr Otorhinolaryngol; 2014 Jul 24; 78(7):1057-60. PubMed ID: 24774219
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  • 20. Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.
    Kabahuma RI, Ouyang X, Du LL, Yan D, Hutchin T, Ramsay M, Penn C, Liu XZ.
    Int J Pediatr Otorhinolaryngol; 2011 May 24; 75(5):611-7. PubMed ID: 21392827
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