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280 related items for PubMed ID: 10369869

  • 1. 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]

  • 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. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
    Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ.
    Hum Genet; 1998 Oct; 103(4):393-9. PubMed ID: 9856479
    [Abstract] [Full Text] [Related]

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

  • 5. 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]

  • 6. Vohwinkel's syndrome in three generations.
    Solis RR, Diven DG, Trizna Z.
    J Am Acad Dermatol; 2001 Feb; 44(2 Suppl):376-8. PubMed ID: 11174420
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.
    Shuja Z, Li L, Gupta S, Meşe G, White TW.
    J Invest Dermatol; 2016 Jan; 136(1):225-235. PubMed ID: 26763442
    [Abstract] [Full Text] [Related]

  • 9. Functional analysis of human Cx26 mutations associated with deafness.
    White TW.
    Brain Res Brain Res Rev; 2000 Apr; 32(1):181-3. PubMed ID: 10751668
    [Abstract] [Full Text] [Related]

  • 10. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
    Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ.
    Am J Hum Genet; 1998 Apr; 62(4):792-9. PubMed ID: 9529365
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
    Bedoukian EC, Rentas S, Skraban C, Shao Q, Treat J, Laird DW, Sullivan KE.
    Mol Genet Genomic Med; 2021 Feb; 9(2):e1574. PubMed ID: 33443819
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Connexin-26 mutations in deafness and skin disease.
    Lee JR, White TW.
    Expert Rev Mol Med; 2009 Nov 19; 11():e35. PubMed ID: 19939300
    [Abstract] [Full Text] [Related]

  • 15. 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 19; 62(4):306-9. PubMed ID: 12372058
    [Abstract] [Full Text] [Related]

  • 16. 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 19; 37(1):50-1. PubMed ID: 10633135
    [Abstract] [Full Text] [Related]

  • 17. 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 19; 25(10):1539-42. PubMed ID: 20890442
    [Abstract] [Full Text] [Related]

  • 18. 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 19; 8(2):141-4. PubMed ID: 10757647
    [Abstract] [Full Text] [Related]

  • 19. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.
    Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP.
    J Invest Dermatol; 2004 May 19; 122(5):1108-13. PubMed ID: 15140211
    [Abstract] [Full Text] [Related]

  • 20. 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 19; 46(2):154-157. PubMed ID: 30565282
    [Abstract] [Full Text] [Related]

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