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Journal Abstract Search

216 related items for PubMed ID: 22484064

  • 1. The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness.
    Petersen MB, Grigoriadou M, Koutroumpe M, Kokotas H.
    Int J Pediatr Otorhinolaryngol; 2012 Jul; 76(7):969-71. PubMed ID: 22484064
    [Abstract] [Full Text] [Related]

  • 2. Prevalence of GJB2 mutations in prelingual deafness in the Greek population.
    Pampanos A, Economides J, Iliadou V, Neou P, Leotsakos P, Voyiatzis N, Eleftheriades N, Tsakanikos M, Antoniadi T, Hatzaki A, Konstantopoulou I, Yannoukakos D, Gronskov K, Brondum-Nielsen K, Grigoriadou M, Gyftodimou J, Iliades T, Skevas A, Petersen MB.
    Int J Pediatr Otorhinolaryngol; 2002 Sep 02; 65(2):101-8. PubMed ID: 12176179
    [Abstract] [Full Text] [Related]

  • 3. Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.
    Felix F, Ribeiro MG, Tomita S, Zalis MG.
    Braz J Otorhinolaryngol; 2019 Sep 02; 85(1):92-98. PubMed ID: 29773520
    [Abstract] [Full Text] [Related]

  • 4. 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 02; 38(2):1309-13. PubMed ID: 20563649
    [Abstract] [Full Text] [Related]

  • 5. Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings.
    Iliades T, Eleftheriades N, Iliadou V, Pampanos A, Voyiatzis N, Economides J, Leotsakos P, Neou P, Tsakanikos M, Antoniadi T, Konstantopoulou I, Yannoukakos D, Grigoriadou M, Skevas A, Petersen MB.
    ORL J Otorhinolaryngol Relat Spec; 2002 Feb 02; 64(5):321-3. PubMed ID: 12417772
    [Abstract] [Full Text] [Related]

  • 6. Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
    Davarnia B, Babanejad M, Fattahi Z, Nikzat N, Bazazzadegan N, Pirzade A, Farajollahi R, Nishimura C, Jalalvand K, Arzhangi S, Kahrizi K, Smith RJ, Najmabadi H.
    Int J Pediatr Otorhinolaryngol; 2012 Feb 02; 76(2):268-71. PubMed ID: 22172221
    [Abstract] [Full Text] [Related]

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  • 8. 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 Feb 02; 14(4):379-86. PubMed ID: 14738110
    [Abstract] [Full Text] [Related]

  • 9. Compound heterozygosity of the novel c.292C>T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness.
    Petersen MB, Grigoriadou M, Economides J, Kokotas H.
    Int J Pediatr Otorhinolaryngol; 2012 Apr 02; 76(4):549-51. PubMed ID: 22321824
    [Abstract] [Full Text] [Related]

  • 10. Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation.
    Antoniadi T, Pampanos A, Petersen MB.
    Prenat Diagn; 2001 Jan 02; 21(1):10-3. PubMed ID: 11180233
    [Abstract] [Full Text] [Related]

  • 11. 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 Jan 02; 76(4):428-32. PubMed ID: 20835527
    [Abstract] [Full Text] [Related]

  • 12. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.
    Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ.
    JAMA; 1999 Jun 16; 281(23):2211-6. PubMed ID: 10376574
    [Abstract] [Full Text] [Related]

  • 13. 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 16; 74(3):250-4. PubMed ID: 20022641
    [Abstract] [Full Text] [Related]

  • 14. Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan.
    Wang YC, Kung CY, Su MC, Su CC, Hsu HM, Tsai CC, Lin CC, Li SY.
    Eur J Hum Genet; 2002 Aug 16; 10(8):495-8. PubMed ID: 12111646
    [Abstract] [Full Text] [Related]

  • 15. A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.
    Riahi Z, Chahed H, Jaafoura H, Zainine R, Messaoud O, Naili M, Nagara M, Hammami H, Laroussi N, Bouyacoub Y, Kefi R, Bonnet C, Besbes G, Abdelhak S.
    Int J Pediatr Otorhinolaryngol; 2013 Sep 16; 77(9):1485-8. PubMed ID: 23856379
    [Abstract] [Full Text] [Related]

  • 16. Connexin-26 mutations in sporadic and inherited sensorineural deafness.
    Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P.
    Lancet; 1998 Feb 07; 351(9100):394-8. PubMed ID: 9482292
    [Abstract] [Full Text] [Related]

  • 17. 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 07; 124():157-160. PubMed ID: 31200317
    [Abstract] [Full Text] [Related]

  • 18. The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice.
    Li Q, Cui C, Liao R, Yin X, Wang D, Cheng Y, Huang B, Wang L, Yan M, Zhou J, Zhao J, Tang W, Wang Y, Wang X, Lv J, Li J, Li H, Shu Y.
    Cell Mol Life Sci; 2023 May 13; 80(6):148. PubMed ID: 37178259
    [Abstract] [Full Text] [Related]

  • 19. Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.
    Belintani Piatto V, Maria Goloni Bertollo E, Lúcia Sartorato E, Victor Maniglia J.
    Hear Res; 2004 Oct 13; 196(1-2):87-93. PubMed ID: 15464305
    [Abstract] [Full Text] [Related]

  • 20. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness.
    Antoniadi T, Grønskov K, Sand A, Pampanos A, Brøndum-Nielsen K, Petersen MB.
    Hum Mutat; 2000 Oct 13; 16(1):7-12. PubMed ID: 10874298
    [Abstract] [Full Text] [Related]

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