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Journal Abstract Search

126 related items for PubMed ID: 15276679

  • 1. Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria.
    Frei K, Ramsebner R, Hamader G, Lucas T, Schoefer C, Baumgartner WD, Wachtler FJ, Kirschhofer K.
    Hear Res; 2004 Aug; 194(1-2):81-6. PubMed ID: 15276679
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  • 3. [Study of the relation between Cx31 gene and hereditary hearing impairment].
    Gao WH, Ke XM, Liu YH, Zhu P, Pan KF.
    Zhonghua Er Bi Yan Hou Ke Za Zhi; 2004 Jun; 39(6):344-8. PubMed ID: 15469079
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  • 4. Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
    Liu XZ, Yuan Y, Yan D, Ding EH, Ouyang XM, Fei Y, Tang W, Yuan H, Chang Q, Du LL, Zhang X, Wang G, Ahmad S, Kang DY, Lin X, Dai P.
    Hum Genet; 2009 Feb; 125(1):53-62. PubMed ID: 19050930
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  • 8. [Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?].
    Birkenhäger R, Zimmer AJ, Maier W, Schipper J.
    Laryngorhinootologie; 2006 Mar; 85(3):191-6. PubMed ID: 16547895
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  • 10. Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
    Löffler J, Nekahm D, Hirst-Stadlmann A, Günther B, Menzel HJ, Utermann G, Janecke AR.
    Eur J Hum Genet; 2001 Mar; 9(3):226-30. PubMed ID: 11313763
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  • 11. Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
    Oh SK, Choi SY, Yu SH, Lee KY, Hong JH, Hur SW, Kim SJ, Jeon CJ, Kim UK.
    Biochim Biophys Acta; 2013 Jan; 1832(1):285-91. PubMed ID: 22617145
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  • 13. Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.
    Rouan F, Lo CW, Fertala A, Wahl M, Jost M, Rodeck U, Uitto J, Richard G.
    Exp Dermatol; 2003 Apr; 12(2):191-7. PubMed ID: 12702148
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  • 14. Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness.
    Nahili H, Ridal M, Boulouiz R, Abidi O, Imken L, Rouba H, Alami MN, Chafik A, Hassar M, Barakat A.
    Int J Pediatr Otorhinolaryngol; 2008 Nov; 72(11):1633-6. PubMed ID: 18809214
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  • 15. Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.
    Alexandrino F, de Oliveira CA, Magalhães RF, Florence ME, de Souza EM, Sartorato EL.
    Am J Med Genet A; 2009 Feb 15; 149A(4):681-4. PubMed ID: 19283857
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  • 16. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
    Xiao ZA, Xie DH.
    Chin Med J (Engl); 2004 Dec 15; 117(12):1797-801. PubMed ID: 15603707
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  • 17. A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness.
    Leshinsky-Silver E, Berman Z, Vinkler C, Yannov-Sharav M, Lev D.
    Hear Res; 2005 Apr 15; 202(1-2):258-61. PubMed ID: 15811717
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  • 18. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.
    Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM.
    Nature; 1997 May 01; 387(6628):80-3. PubMed ID: 9139825
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  • 19. Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A).
    Pshennikova VG, Barashkov NA, Romanov GP, Teryutin FM, Solov'ev AV, Gotovtsev NN, Nikanorova AA, Nakhodkin SS, Sazonov NN, Morozov IV, Bondar AA, Dzhemileva LU, Khusnutdinova EK, Posukh OL, Fedorova SA.
    ScientificWorldJournal; 2019 May 01; 2019():5198931. PubMed ID: 31015822
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  • 20. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
    López-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbonés ML, Estivill X.
    Hum Mol Genet; 2001 Apr 15; 10(9):947-52. PubMed ID: 11309368
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