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Journal Abstract Search

355 related items for PubMed ID: 20890442

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  • 4. The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
    Uyguner O, Tukel T, Baykal C, Eris H, Emiroglu M, Hafiz G, Ghanbari A, Baserer N, Yuksel-Apak M, Wollnik B.
    Clin Genet; 2002 Oct; 62(4):306-9. PubMed ID: 12372058
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  • 5. Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family.
    Pavithra A, Selvakumari M, Nityaa V, Sharanya N, Ramakrishnan R, Narasimhan M, Srisailapathy CR.
    Ann Hum Genet; 2015 Jan; 79(1):76-82. PubMed ID: 25393658
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  • 9. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
    de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA.
    J Med Genet; 2008 Mar; 45(3):161-6. PubMed ID: 17993581
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  • 10. trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
    Rouan F, White TW, Brown N, Taylor AM, Lucke TW, Paul DL, Munro CS, Uitto J, Hodgins MB, Richard G.
    J Cell Sci; 2001 Jun; 114(Pt 11):2105-13. PubMed ID: 11493646
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  • 13. [The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype].
    Huang S, Huang B, Yuan Y, Wang G, Dai P.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2014 Nov; 28(22):1744-7. PubMed ID: 25752103
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  • 15. R75Q de novo dominant mutation of GJB2 in a Chinese family with hearing loss and palmoplantar keratoderma.
    Jiang SJ, Di ZH, Huang D, Zhang JB, Zhang YY, Li SQ, He R.
    Int J Pediatr Otorhinolaryngol; 2014 Sep; 78(9):1461-6. PubMed ID: 24975403
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  • 18. Connecting with connexins.
    Williams P, Memon A, Sinha T, Fryer A.
    Australas J Dermatol; 2013 Nov; 54(4):287-9. PubMed ID: 23808595
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  • 19. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.
    Feldmann D, Denoyelle F, Blons H, Lyonnet S, Loundon N, Rouillon I, Hadj-Rabia S, Petit C, Couderc R, Garabédian EN, Marlin S.
    Am J Med Genet A; 2005 Aug 30; 137(2):225-7. PubMed ID: 16059934
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