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Journal Abstract Search

250 related items for PubMed ID: 19254696

  • 1. Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
    Belguith H, Tlili A, Dhouib H, Ben Rebeh I, Lahmar I, Charfeddine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S.
    Biochem Biophys Res Commun; 2009 Jul 17; 385(1):1-5. PubMed ID: 19254696
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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 Jul 17; 11(4):347-52. PubMed ID: 18294049
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  • 8. 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 17; 74(3):250-4. PubMed ID: 20022641
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  • 10. 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 17; 92():82-87. PubMed ID: 28012540
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  • 11. 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 17; 188(1-2):42-6. PubMed ID: 14759569
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  • 12. 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 17; 79(11):1892-5. PubMed ID: 26409293
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  • 14. Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.
    Paz-y-Miño C, Beaty D, López-Cortés A, Proaño I.
    Int J Pediatr Otorhinolaryngol; 2014 Oct 17; 78(10):1648-54. PubMed ID: 25085072
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  • 17. 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 17; 71(6):869-73. PubMed ID: 17368814
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  • 18. GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.
    Grønskov K, Larsen LA, Rendtorff ND, Parving A, Nørgaard-Pedersen B, Brøndum-Nielsen K.
    Genet Test; 2004 Jun 17; 8(2):181-4. PubMed ID: 15345117
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  • 19. [Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset].
    Gallo-Terán J, Morales-Angulo C, Rodríguez-Ballesteros M, Moreno-Pelayo MA, del Castillo I, Moreno F.
    Acta Otorrinolaringol Esp; 2005 Dec 17; 56(10):463-8. PubMed ID: 16425640
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  • 20. GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
    Chen K, Wu X, Zong L, Jiang H.
    J Clin Lab Anal; 2018 Nov 17; 32(9):e22592. PubMed ID: 29926981
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