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Journal Abstract Search

471 related items for PubMed ID: 12530196

  • 1. [Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria].
    Gallo-Terán J, Morales-Angulo C, del Castillo I, Villamar M, Moreno-Pelayo MA, García-Mantilla J, Moreno F.
    Acta Otorrinolaringol Esp; 2002 Oct; 53(8):563-71. PubMed ID: 12530196
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  • 2. [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; 56(10):463-8. PubMed ID: 16425640
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  • 3. The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss.
    Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Papadopoulou E, Neou P, Giannoulia-Karantana A, Kandiloros D, Korres S, Petersen MB.
    Biochem Biophys Res Commun; 2009 Dec 18; 390(3):755-7. PubMed ID: 19835846
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  • 5. GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.
    Baysal E, Bayazit YA, Ceylaner S, Alatas N, Donmez B, Ceylaner G, San I, Korkmaz B, Yilmaz A, Menevse A, Altunyay S, Gunduz B, Goksu N, Arslan A, Ekmekci A.
    J Genet; 2008 Apr 18; 87(1):53-7. PubMed ID: 18560174
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  • 7. Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment.
    Bhalla S, Sharma R, Khandelwal G, Panda NK, Khullar M.
    Biochem Biophys Res Commun; 2009 Jul 31; 385(3):445-8. PubMed ID: 19465004
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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 31; 74(3):250-4. PubMed ID: 20022641
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  • 9. Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene.
    Tekin M, Duman T, Boğoçlu G, Incesulu A, Cin S, Akar N.
    Genet Couns; 2003 Mar 31; 14(4):379-86. PubMed ID: 14738110
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  • 10. Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.
    Danilenko N, Merkulava E, Siniauskaya M, Olejnik O, Levaya-Smaliak A, Kushniarevich A, Shymkevich A, Davydenko O.
    PLoS One; 2012 Mar 31; 7(5):e36354. PubMed ID: 22567152
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  • 11. [Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang].
    Li YH, Jiang H, Yang LJ, Xu HX, Li H, Li HW, Luo YH, Wang CW, Zou GH.
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2010 Aug 31; 45(8):645-51. PubMed ID: 21055240
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  • 13. [Mutations analysis in a pedigree with maternally inherited sensorineural hearing loss].
    Xu C, Zhang H, Zhang Y, Zhao S, Geng X, Shan Y, Shan X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr 31; 22(2):125-8. PubMed ID: 15793769
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  • 16. 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 Apr 31; 76(4):428-32. PubMed ID: 20835527
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  • 17. Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation.
    López-Bigas N, Rabionet R, Martinez E, Bravo O, Girons J, Borragan A, Pellicer M, Arbonés ML, Estivill X.
    Am J Hum Genet; 2000 Apr 31; 66(4):1465-7. PubMed ID: 10739773
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  • 18. [Frequency of the Connexin26/35delG mutation and its characteristic phenotype in patients with hearing impairment and controls in Northeastern Hungary].
    Tóth T, Kupka S, Blin N, Pfister M, Sziklai I.
    Orv Hetil; 2002 Oct 06; 143(40):2285-9. PubMed ID: 12420583
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  • 19. [Mitochondrial 12S rRNA gene A827G in two pedigrees with nonsyndromic deafness].
    Chen ZB, Cao X, Xing GQ, Tian HQ, Zhou AD, Wei QU, Bu XK.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug 06; 23(4):415-8. PubMed ID: 16883529
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  • 20. [GJB2 235delC single allelic mutation modulates the phenotype associated with the mitochondrial A1555G mutation].
    Li Q, Fang RP, Zhou HG, Dai P, Tian L, Lin D, Huang Q, Song JM.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Apr 06; 27(2):194-7. PubMed ID: 20376804
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