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Journal Abstract Search

138 related items for PubMed ID: 28872160

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 3. 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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  • 4. Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).
    Bousfiha A, Bakhchane A, Elrharchi S, Dehbi H, Kabine M, Nadifi S, Charoute H, Barakat A.
    Curr Res Transl Med; 2016 Feb 15; 64(2):61-4. PubMed ID: 27316387
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  • 5. 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 15; 173(4):1113-9. PubMed ID: 18787097
    [Abstract] [Full Text] [Related]

  • 6. 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 15; 40(2):217-229. PubMed ID: 30431684
    [Abstract] [Full Text] [Related]

  • 7. Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
    Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC.
    J Korean Med Sci; 2010 Oct 15; 25(10):1539-42. PubMed ID: 20890442
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  • 8. 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 15; 37(1):50-1. PubMed ID: 10633135
    [Abstract] [Full Text] [Related]

  • 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 15; 45(3):161-6. PubMed ID: 17993581
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  • 11. 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 15; 127(6):1540-3. PubMed ID: 17255958
    [No Abstract] [Full Text] [Related]

  • 12. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
    Birkenhäger R, Lüblinghoff N, Prera E, Schild C, Aschendorff A, Arndt S.
    Am J Med Genet A; 2010 Jul 15; 152A(7):1798-802. PubMed ID: 20583176
    [Abstract] [Full Text] [Related]

  • 13. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.
    Richard G, Brown N, Ishida-Yamamoto A, Krol A.
    J Invest Dermatol; 2004 Nov 15; 123(5):856-63. PubMed ID: 15482471
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  • 15. 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 15; 46(2):154-157. PubMed ID: 30565282
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  • 17. 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 15; 27(2):187-91. PubMed ID: 29485809
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  • 20. Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
    Guerra L, Bergamo F, D'Apice MR, Angelucci F, di Girolamo S, Camerota L, Monetta R, Annessi G, Castiglia D, Novelli G, Paradisi M, Brancati F.
    Acta Derm Venereol; 2019 Nov 01; 99(12):1192-1194. PubMed ID: 31408183
    [No Abstract] [Full Text] [Related]

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