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Journal Abstract Search

239 related items for PubMed ID: 17993581

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

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma.
    Yuan Y, Huang D, Yu F, Zhu X, Kang D, Yuan H, Han D, Dai P.
    Am J Med Genet A; 2009 Feb 15; 149A(4):689-92. PubMed ID: 18924167
    [No Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome.
    de Zwart-Storm EA, van Geel M, Veysey E, Burge S, Cooper S, Steijlen PM, Martin PE, van Steensel MA.
    Br J Dermatol; 2011 Jan 15; 164(1):197-9. PubMed ID: 20854437
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
    Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L.
    Am J Hum Genet; 2002 May 15; 70(5):1341-8. PubMed ID: 11912510
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 37(4):308-311. PubMed ID: 28872160
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 78(9):1461-6. PubMed ID: 24975403
    [Abstract] [Full Text] [Related]

  • 14. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
    Maestrini E, Korge BP, Ocaña-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS.
    Hum Mol Genet; 1999 Jul 15; 8(7):1237-43. PubMed ID: 10369869
    [Abstract] [Full Text] [Related]

  • 15. 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 15; 114(Pt 11):2105-13. PubMed ID: 11493646
    [Abstract] [Full Text] [Related]

  • 16. 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 Jun 15; 64(2):61-4. PubMed ID: 27316387
    [Abstract] [Full Text] [Related]

  • 17. [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
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 161(2):452-5. PubMed ID: 19416251
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation.
    Leonard NJ, Krol AL, Bleoo S, Somerville MJ.
    J Med Genet; 2005 Jan 15; 42(1):e2. PubMed ID: 15635064
    [No Abstract] [Full Text] [Related]

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