BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 31419744)

  • 21. De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
    Janecke AR; Nekahm D; Löffler J; Hirst-Stadlmann A; Müller T; Utermann G
    Hum Genet; 2001 Mar; 108(3):269-70. PubMed ID: 11354642
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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; 27(2):187-91. PubMed ID: 29485809
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness.
    Primignani P; Trotta L; Castorina P; Lalatta F; Cuda D; Murri A; Ambrosetti U; Cesarani A; Curcio C; Coviello D; Travi M
    Laryngoscope; 2007 May; 117(5):821-4. PubMed ID: 17473676
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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. PubMed ID: 18412859
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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. PubMed ID: 11912510
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
    Lench NJ; Markham AF; Mueller RF; Kelsell DP; Smith RJ; Willems PJ; Schatteman I; Capon H; Van De Heyning PJ; Van Camp G
    J Med Genet; 1998 Feb; 35(2):151-2. PubMed ID: 9507396
    [TBL] [Abstract][Full Text] [Related]  

  • 29. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.
    Xiao ZA; Xie DH
    Chin Med J (Engl); 2004 Dec; 117(12):1797-801. PubMed ID: 15603707
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.
    Ben Said M; Dhouib H; BenZina Z; Ghorbel A; Moreno F; Masmoudi S; Ayadi H; Hmani-Aifa M
    Int J Pediatr Otorhinolaryngol; 2012 Jun; 76(6):832-6. PubMed ID: 22429511
    [TBL] [Abstract][Full Text] [Related]  

  • 32. High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene.
    Mahdieh N; Bagherian H; Shirkavand A; Sharafi M; Zeinali S
    Int J Pediatr Otorhinolaryngol; 2010 Sep; 74(9):1089-91. PubMed ID: 20609484
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
    Bazazzadegan N; Sheffield AM; Sobhani M; Kahrizi K; Meyer NC; Van Camp G; Hilgert N; Abedini SS; Habibi F; Daneshi A; Nishimura C; Avenarius MR; Farhadi M; Smith RJ; Najmabadi H
    Am J Med Genet A; 2011 May; 155A(5):1202-11. PubMed ID: 21484990
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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; 127(6):1540-3. PubMed ID: 17255958
    [No Abstract]   [Full Text] [Related]  

  • 37. Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss.
    Guan J; Wang H; Lan L; Wu Y; Chen G; Zhao C; Wang D; Wang Q
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1367. PubMed ID: 32567228
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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; 161(2):452-5. PubMed ID: 19416251
    [TBL] [Abstract][Full Text] [Related]  

  • 39. G59A mutation in the GJB2 gene in a Taiwanese family with knuckle pads, palmoplantar keratoderma and sensorineural hearing loss.
    Chen LH; Lin HC; Sheu HM; Chao SC
    Clin Exp Dermatol; 2012 Apr; 37(3):300-1. PubMed ID: 22007731
    [No Abstract]   [Full Text] [Related]  

  • 40. A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.
    Gonçalves AC; Chora J; Matos TD; Santos R; O'Neill A; Escada P; Fialho G; Caria H
    Int J Pediatr Otorhinolaryngol; 2013 Jan; 77(1):89-91. PubMed ID: 23141775
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.