BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

209 related articles for article (PubMed ID: 12372058)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. PubMed ID: 11493646
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

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

  • 12. 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]  

  • 13. [The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype].
    Huang S; Huang B; Yuan Y; Wang G; Dai P
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2014 Nov; 28(22):1744-7. PubMed ID: 25752103
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
    Morlé L; Bozon M; Alloisio N; Latour P; Vandenberghe A; Plauchu H; Collet L; Edery P; Godet J; Lina-Granade G
    J Med Genet; 2000 May; 37(5):368-70. PubMed ID: 10807696
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.
    Zhang J; Scherer SS; Yum SW
    Mol Cell Neurosci; 2011 Jun; 47(2):71-8. PubMed ID: 21040787
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.