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]