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Journal Abstract Search

113 related items for PubMed ID: 20031451

  • 1. Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations.
    Serrano Castro PJ, Naranjo Fernandez C, Quiroga Subirana P, Payan Ortiz M.
    Seizure; 2010 Mar; 19(2):129-31. PubMed ID: 20031451
    [Abstract] [Full Text] [Related]

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

  • 3. 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]

  • 4. 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]

  • 5. 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 Oct; 27(2):187-91. PubMed ID: 29485809
    [Abstract] [Full Text] [Related]

  • 6. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
    Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM.
    Eur J Hum Genet; 2000 Feb; 8(2):141-4. PubMed ID: 10757647
    [Abstract] [Full Text] [Related]

  • 7. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
    Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM.
    Eur J Hum Genet; 2000 Jun; 8(6):469-72. PubMed ID: 10888284
    [Abstract] [Full Text] [Related]

  • 8. 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; 25(10):1539-42. PubMed ID: 20890442
    [Abstract] [Full Text] [Related]

  • 9. 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; 123(5):856-63. PubMed ID: 15482471
    [Abstract] [Full Text] [Related]

  • 10. D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome.
    Qiu Y, Wang Z, Chen N, Song Y, Wang Z, Zhang L.
    Indian J Dermatol Venereol Leprol; 2012 Nov; 78(5):640-2. PubMed ID: 22960825
    [No Abstract] [Full Text] [Related]

  • 11. 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; 8(7):1237-43. PubMed ID: 10369869
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. [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; 30(2):203-6. PubMed ID: 23568736
    [Abstract] [Full Text] [Related]

  • 14. 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; 152A(7):1798-802. PubMed ID: 20583176
    [Abstract] [Full Text] [Related]

  • 15. 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; 164(1):197-9. PubMed ID: 20854437
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin.
    Bondeson ML, Nyström AM, Gunnarsson U, Vahlquist A.
    Acta Derm Venereol; 2006 Feb 15; 86(6):503-8. PubMed ID: 17106596
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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
    [No Abstract] [Full Text] [Related]

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