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    Results: 1 to 20 of 771

    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. Epub 2007 Nov 9.PMID: 17993581 [PubMed - indexed for MEDLINE]Related articles

    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. Epub 2008 Sep 11.PMID: 18787097 [PubMed - indexed for MEDLINE]Related articlesFree article

    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. No abstract available. PMID: 18924167 [PubMed - indexed for MEDLINE]Related articles

    4.

    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.PMID: 15482471 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    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.PMID: 18688874 [PubMed - indexed for MEDLINE]Related articles

    6.

    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;70(5):1341-8. Epub 2002 Mar 22.PMID: 11912510 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    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.PMID: 11493646 [PubMed - indexed for MEDLINE]Related articlesFree article

    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;37(1):50-1.PMID: 10633135 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    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.PMID: 10369869 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    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.PMID: 9856479 [PubMed - indexed for MEDLINE]Related articles

    11.

    A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.

    Matos TD, Caria H, Simões-Teixeira H, Aasen T, Dias O, Andrea M, Kelsell DP, Fialho G.

    Hear Res. 2008 Jun;240(1-2):87-92. Epub 2008 Apr 3.PMID: 18472371 [PubMed - indexed for MEDLINE]Related articles

    12.

    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;122(5):1108-13.PMID: 15140211 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    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.PMID: 10888284 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

    Griffith AJ, Chowdhry AA, Kurima K, Hood LJ, Keats B, Berlin CI, Morell RJ, Friedman TB.

    Am J Hum Genet. 2000 Sep;67(3):745-9. Epub 2000 Jul 19.PMID: 10903123 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    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. Corrected and republished in: Eur J Hum Genet. 2000 Jun;8(6):469-72. PMID: 10757647 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    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;62(4):306-9.PMID: 12372058 [PubMed - indexed for MEDLINE]Related articles

    17.

    Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.

    Piazza V, Beltramello M, Menniti M, Colao E, Malatesta P, Argento R, Chiarella G, Gallo LV, Catalano M, Perrotti N, Mammano F, Cassandro E.

    Clin Genet. 2005 Aug;68(2):161-6.PMID: 15996214 [PubMed - indexed for MEDLINE]Related articles

    18.

    Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss.

    Kelly B, Lozano A, Altenberg G, Makishima T.

    Int J Dermatol. 2008 May;47(5):443-7.PMID: 18412859 [PubMed - indexed for MEDLINE]Related articles

    19.

    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;42(1):e2. No abstract available. PMID: 15635064 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Mutation of a conserved threonine in the third transmembrane helix of alpha- and beta-connexins creates a dominant-negative closed gap junction channel.

    Beahm DL, Oshima A, Gaietta GM, Hand GM, Smock AE, Zucker SN, Toloue MM, Chandrasekhar A, Nicholson BJ, Sosinsky GE.

    J Biol Chem. 2006 Mar 24;281(12):7994-8009. Epub 2005 Dec 28.PMID: 16407179 [PubMed - indexed for MEDLINE]Related articlesFree article

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