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Journal Abstract Search

452 related items for PubMed ID: 31162818

  • 1. Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.
    Naddafnia H, Noormohammadi Z, Irani S, Salahshoorifar I.
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00780. PubMed ID: 31162818
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  • 2. 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(1):1-7. PubMed ID: 19125024
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  • 3. Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.
    Haghighat-Nia A, Keivani A, Nadeali Z, Fazel-Najafabadi E, Hosseinzadeh M, Salehi M.
    Int J Pediatr Otorhinolaryngol; 2015 Nov; 79(11):1892-5. PubMed ID: 26409293
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  • 4. 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 Nov; 11(4):347-52. PubMed ID: 18294049
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  • 5. First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.
    Al-Achkar W, Al-Halabi B, Ali B, Moassass F.
    Int J Pediatr Otorhinolaryngol; 2017 Jan; 92():82-87. PubMed ID: 28012540
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  • 6. 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. Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness.
    Esmaeili M, Bonyadi M, Nejadkazem M.
    Int J Pediatr Otorhinolaryngol; 2007 Jun; 71(6):869-73. PubMed ID: 17368814
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  • 8. Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).
    Rodriguez-Paris J, Tamayo ML, Gelvez N, Schrijver I.
    PLoS One; 2011 Jun; 6(6):e21665. PubMed ID: 21738759
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  • 16. 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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  • 17. 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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