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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

129 related items for PubMed ID: 15635064

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  • 2. A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads.
    Akiyama M, Sakai K, Arita K, Nomura Y, Ito K, Kodama K, McMillan JR, Kobayashi K, Sawamura D, Shimizu H.
    J Invest Dermatol; 2007 Jun; 127(6):1540-3. PubMed ID: 17255958
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  • 4. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).
    Heathcote K, Syrris P, Carter ND, Patton MA.
    J Med Genet; 2000 Jan; 37(1):50-1. PubMed ID: 10633135
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  • 6. 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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  • 7. Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
    Nemoto-Hasebe I, Akiyama M, Kudo S, Ishiko A, Tanaka A, Arita K, Shimizu H.
    Br J Dermatol; 2009 Aug; 161(2):452-5. PubMed ID: 19416251
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  • 8. A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation.
    Stanghellini I, Genovese E, Palma S, Falcinelli C, Presutti L, Percesepe A.
    Acta Otorhinolaryngol Ital; 2017 Aug; 37(4):308-311. PubMed ID: 28872160
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  • 10. A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
    de Zwart-Storm EA, van Geel M, van Neer PA, Steijlen PM, Martin PE, van Steensel MA.
    Am J Pathol; 2008 Oct; 173(4):1113-9. PubMed ID: 18787097
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  • 11. Connexin 26 missense mutation resulting in syndromic hearing loss with palmoplantar keratoderma.
    Lam MW, Veitch D, Woo PN.
    Int J Dermatol; 2020 Dec; 59(12):e454-e455. PubMed ID: 32808299
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  • 12. G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome.
    Xie MX, Yang WP, Luo HJ, Ismail F, Hao YY, Yang JQ.
    J Dermatol; 2019 Feb; 46(2):154-157. PubMed ID: 30565282
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  • 14. A family of Bart-Pumphrey syndrome.
    Gönül M, Gül Ü, Hizli P, Hizli Ö.
    Indian J Dermatol Venereol Leprol; 2012 Feb; 78(2):178-81. PubMed ID: 22421650
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  • 15. A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.
    Youssefian L, Vahidnezhad H, Saeidian AH, Mahmoudi H, Karamzadeh R, Kariminejad A, Huang J, Li L, Jannace TF, Fortina P, Zeinali S, White TW, Uitto J.
    Hum Mutat; 2019 Feb; 40(2):217-229. PubMed ID: 30431684
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  • 16. A Deletion Mutation of the Connexin 26 (Gjb2) Gene in a Turkish Patient with Vohwinkel Syndrome .
    Ozturk S, Can I, Eser B, Yazici H.
    Genet Couns; 2016 Feb; 27(2):187-91. PubMed ID: 29485809
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  • 17. 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. New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.
    Iossa S, Chinetti V, Auletta G, Laria C, De Luca M, Rienzo M, Giannini P, Delfino M, Ciccodicola A, Marciano E, Franzé A.
    Am J Med Genet A; 2009 Feb 15; 149A(4):685-8. PubMed ID: 18688874
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  • 19. [Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome].
    Liu YM, Gao XJ, Tian X, Li XM, Zhang XB.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr 15; 30(2):203-6. PubMed ID: 23568736
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