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Journal Abstract Search

250 related items for PubMed ID: 19254696

  • 21.
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  • 23. Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).
    Rodriguez-Paris J, Tamayo ML, Gelvez N, Schrijver I.
    PLoS One; 2011; 6(6):e21665. PubMed ID: 21738759
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  • 24. Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.
    Cordeiro-Silva Mde F, Barbosa A, Santiago M, Provetti M, Dettogni RS, Tovar TT, Rabbi-Bortolini E, Louro ID.
    Mol Biol Rep; 2011 Feb; 38(2):1309-13. PubMed ID: 20563649
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  • 26. 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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  • 28. Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss.
    Minárik G, Tretinárová D, Szemes T, Kádasi L.
    Int J Pediatr Otorhinolaryngol; 2012 Mar 13; 76(3):400-3. PubMed ID: 22281373
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  • 29. Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
    Primignani P, Trotta L, Castorina P, Lalatta F, Sironi F, Radaelli C, Degiorgio D, Curcio C, Travi M, Ambrosetti U, Cesarani A, Garavelli L, Formigoni P, Milani D, Murri A, Cuda D, Coviello DA.
    Genet Test Mol Biomarkers; 2009 Apr 13; 13(2):209-17. PubMed ID: 19371219
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  • 30. Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss.
    Bhalla S, Sharma R, Khandelwal G, Panda NK, Khullar M.
    Int J Pediatr Otorhinolaryngol; 2011 Mar 13; 75(3):356-9. PubMed ID: 21227513
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  • 32. High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss.
    Neocleous V, Aspris A, Shahpenterian V, Nicolaou V, Panagi C, Ioannou I, Kyamides Y, Anastasiadou V, Phylactou LA.
    Genet Test; 2006 Mar 13; 10(4):285-9. PubMed ID: 17253936
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  • 33. Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele.
    Gualandi E, Ravani A, Berto A, Burdo S, Trevisi P, Ferlini A, Martini A, Calzolari E.
    Acta Otolaryngol Suppl; 2004 May 13; (552):29-34. PubMed ID: 15219044
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  • 35. 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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  • 37. Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo-Brazil.
    Cordeiro-Silva Mde F, Barbosa A, Santiago M, Provetti M, Rabbi-Bortolini E.
    Braz J Otorhinolaryngol; 2010 Sep 13; 76(4):428-32. PubMed ID: 20835527
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  • 38. Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.
    Pandya A, O'Brien A, Kovasala M, Bademci G, Tekin M, Arnos KS.
    Mol Genet Genomic Med; 2020 Apr 13; 8(4):e1171. PubMed ID: 32067424
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  • 39. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
    Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, Morrow BE.
    Am J Med Genet A; 2007 Apr 15; 143A(8):830-8. PubMed ID: 17357124
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  • 40. The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.
    Talbi S, Bonnet C, Boudjenah F, Mansouri MT, Petit C, Ammar Khodja F.
    Int J Pediatr Otorhinolaryngol; 2019 Sep 15; 124():157-160. PubMed ID: 31200317
    [Abstract] [Full Text] [Related]

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