BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

182 related articles for article (PubMed ID: 15079193)

  • 1. Relevance of connexin deafness (DFNB1) to human evolution.
    Nance WE; Kearsey MJ
    Am J Hum Genet; 2004 Jun; 74(6):1081-7. PubMed ID: 15079193
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?].
    Birkenhäger R; Zimmer AJ; Maier W; Schipper J
    Laryngorhinootologie; 2006 Mar; 85(3):191-6. PubMed ID: 16547895
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.
    Amritkumar P; Jeffrey JM; Chandru J; Vanniya S P; Kalaimathi M; Ramakrishnan R; Karthikeyen NP; Srikumari Srisailapathy CR
    BMC Med Genet; 2018 Jun; 19(1):105. PubMed ID: 29921236
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
    Pallares-Ruiz N; Blanchet P; Mondain M; Claustres M; Roux AF
    Eur J Hum Genet; 2002 Jan; 10(1):72-6. PubMed ID: 11896458
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
    Pandya A; Arnos KS; Xia XJ; Welch KO; Blanton SH; Friedman TB; Garcia Sanchez G; Liu MD XZ; Morell R; Nance WE
    Genet Med; 2003; 5(4):295-303. PubMed ID: 12865758
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.
    Ammar-Khodja F; Faugère V; Baux D; Giannesini C; Léonard S; Makrelouf M; Malek R; Djennaoui D; Zenati A; Claustres M; Roux AF
    Eur J Med Genet; 2009; 52(4):174-9. PubMed ID: 19375528
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
    Denoyelle F; Marlin S; Weil D; Moatti L; Chauvin P; Garabédian EN; Petit C
    Lancet; 1999 Apr; 353(9161):1298-303. PubMed ID: 10218527
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.
    Gravina LP; Foncuberta ME; Prieto ME; Garrido J; Barreiro C; Chertkoff L
    Int J Pediatr Otorhinolaryngol; 2010 Mar; 74(3):250-4. PubMed ID: 20022641
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 10903123
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
    Carrasquillo MM; Zlotogora J; Barges S; Chakravarti A
    Hum Mol Genet; 1997 Nov; 6(12):2163-72. PubMed ID: 9328482
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
    del Castillo I; Villamar M; Moreno-Pelayo MA; del Castillo FJ; Alvarez A; Tellería D; Menéndez I; Moreno F
    N Engl J Med; 2002 Jan; 346(4):243-9. PubMed ID: 11807148
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness.
    Nickel R; Forge A
    Curr Opin Otolaryngol Head Neck Surg; 2008 Oct; 16(5):452-7. PubMed ID: 18797288
    [TBL] [Abstract][Full Text] [Related]  

  • 13. DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome.
    Chora JR; Matos TD; Martins JH; Alves MC; Andrade SM; Silva LF; Ribeiro CA; Antunes MC; Fialho MG; Caria MH
    Int J Pediatr Otorhinolaryngol; 2010 Oct; 74(10):1135-9. PubMed ID: 20650534
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The genetics of deafness.
    Nance WE
    Ment Retard Dev Disabil Res Rev; 2003; 9(2):109-19. PubMed ID: 12784229
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
    González JR; Wang W; Ballana E; Estivill X
    Hum Mutat; 2006 Nov; 27(11):1135-42. PubMed ID: 16941638
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation.
    Antoniadi T; Pampanos A; Petersen MB
    Prenat Diagn; 2001 Jan; 21(1):10-3. PubMed ID: 11180233
    [TBL] [Abstract][Full Text] [Related]  

  • 17. GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.
    Trabelsi M; Bahri W; Habibi M; Zainine R; Maazoul F; Ghazi B; Chaabouni H; Mrad R
    Int J Pediatr Otorhinolaryngol; 2013 May; 77(5):714-6. PubMed ID: 23434199
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.
    Frei K; Ramsebner R; Lucas T; Baumgartner WD; Schoefer C; Wachtler FJ; Kirschhofer K
    Hear Res; 2004 Oct; 196(1-2):115-8. PubMed ID: 15464308
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Gap-junction channels dysfunction in deafness and hearing loss.
    Martínez AD; Acuña R; Figueroa V; Maripillan J; Nicholson B
    Antioxid Redox Signal; 2009 Feb; 11(2):309-22. PubMed ID: 18837651
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.