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Journal Abstract Search

241 related items for PubMed ID: 12684873

  • 1. Connexin 26 35delG does not represent a mutational hotspot.
    Rothrock CR, Murgia A, Sartorato EL, Leonardi E, Wei S, Lebeis SL, Yu LE, Elfenbein JL, Fisher RA, Friderici KH.
    Hum Genet; 2003 Jul; 113(1):18-23. PubMed ID: 12684873
    [Abstract] [Full Text] [Related]

  • 2. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.
    Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat A.
    Int J Pediatr Otorhinolaryngol; 2007 Aug; 71(8):1239-45. PubMed ID: 17553572
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  • 3. Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia.
    Zytsar MV, Barashkov NA, Bady-Khoo MS, Shubina-Olejnik OA, Danilenko NG, Bondar AA, Morozov IV, Solovyev AV, Danilchenko VY, Maximov VN, Posukh OL.
    BMC Med Genet; 2018 Aug 07; 19(1):138. PubMed ID: 30086704
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  • 4. Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population.
    Kokotas H, Van Laer L, Grigoriadou M, Iliadou V, Economides J, Pomoni S, Pampanos A, Eleftheriades N, Ferekidou E, Korres S, Giannoulia-Karantana A, Van Camp G, Petersen MB.
    Am J Med Genet A; 2008 Nov 15; 146A(22):2879-84. PubMed ID: 18925674
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  • 5. Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study.
    Ramsebner R, Ludwig M, Lucas T, de Jong D, Hamader G, del Castillo I, Parzefall T, Baumgartner WD, Schoefer C, Szuhai K, Frei K.
    Otol Neurotol; 2013 Jun 15; 34(4):650-6. PubMed ID: 23640091
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  • 6. The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population.
    Abidi O, Boulouiz R, Nahili H, Imken L, Rouba H, Chafik A, Barakat A.
    Biochem Biophys Res Commun; 2008 Dec 19; 377(3):971-4. PubMed ID: 18952066
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  • 7. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.
    Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, Chamberlin GP, Houseman M, Taylor GR, Van de Heyning CM, Fransen E, Rowland J, Cucci RA, Smith RJ, Van Camp G.
    J Med Genet; 2001 Aug 19; 38(8):515-8. PubMed ID: 11483639
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  • 8. Did the GJB2 35delG mutation originate in Iran?
    Norouzi V, Azizi H, Fattahi Z, Esteghamat F, Bazazzadegan N, Nishimura C, Nikzat N, Jalalvand K, Kahrizi K, Smith RJ, Najmabadi H.
    Am J Med Genet A; 2011 Oct 19; 155A(10):2453-8. PubMed ID: 21910243
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  • 9. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.
    Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D.
    Hum Mutat; 2001 Nov 19; 18(5):460. PubMed ID: 11668644
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  • 11. 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 Nov 19; 8(2):181-4. PubMed ID: 15345117
    [Abstract] [Full Text] [Related]

  • 12. A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
    Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G.
    J Med Genet; 2004 Mar 19; 41(3):147-54. PubMed ID: 14985372
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  • 13. Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
    Tekin M, Akar N, Cin S, Blanton SH, Xia XJ, Liu XZ, Nance WE, Pandya A.
    Hum Genet; 2001 May 19; 108(5):385-9. PubMed ID: 11409864
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  • 14. 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
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  • 15. Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population.
    Abidi O, Boulouiz R, Nahili H, Bakhouch K, Wakrim L, Rouba H, Chafik A, Hassar M, Barakat A.
    Genet Test; 2008 Dec 07; 12(4):569-74. PubMed ID: 19072567
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  • 17. [The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco].
    Ratbi I, Hajji S, Ouldim K, Aboussair N, Feldmann D, Sefiani A.
    Arch Pediatr; 2007 May 07; 14(5):450-3. PubMed ID: 17229560
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