These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 16059934)

  • 1. 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; 137(2):225-7. PubMed ID: 16059934
    [No Abstract]   [Full Text] [Related]  

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

  • 3. 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; 78(9):1461-6. PubMed ID: 24975403
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. 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; 149A(4):689-92. PubMed ID: 18924167
    [No Abstract]   [Full Text] [Related]  

  • 6. 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; 149A(4):685-8. PubMed ID: 18688874
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 64(2):61-4. PubMed ID: 27316387
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 10633135
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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. PubMed ID: 12372058
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

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

  • 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. PubMed ID: 10888284
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family.
    Pavithra A; Selvakumari M; Nityaa V; Sharanya N; Ramakrishnan R; Narasimhan M; Srisailapathy CR
    Ann Hum Genet; 2015 Jan; 79(1):76-82. PubMed ID: 25393658
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Connexin 26 missense mutation resulting in syndromic hearing loss with palmoplantar keratoderma.
    Lam MW; Veitch D; Woo PN
    Int J Dermatol; 2020 Dec; 59(12):e454-e455. PubMed ID: 32808299
    [No Abstract]   [Full Text] [Related]  

  • 16. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 15996214
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 37(4):308-311. PubMed ID: 28872160
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 78(5):640-2. PubMed ID: 22960825
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.