147 related articles for article (PubMed ID: 38297844)
21. The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
Liu XW; Wang JC; Wang SY; Li SJ; Zhu YM; Ding WJ; Xu CY; Duan L; Xu BC; Guo YF
Int J Pediatr Otorhinolaryngol; 2020 Sep; 136():110143. PubMed ID: 32645618
[TBL] [Abstract][Full Text] [Related]
22. Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.
Parzefall T; Frohne A; Koenighofer M; Kirchnawy A; Streubel B; Schoefer C; Frei K; Lucas T
Eur Arch Otorhinolaryngol; 2017 Oct; 274(10):3619-3625. PubMed ID: 28821934
[TBL] [Abstract][Full Text] [Related]
23. Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
Francey LJ; Conlin LK; Kadesch HE; Clark D; Berrodin D; Sun Y; Glessner J; Hakonarson H; Jalas C; Landau C; Spinner NB; Kenna M; Sagi M; Rehm HL; Krantz ID
Am J Med Genet A; 2012 Feb; 158A(2):298-308. PubMed ID: 22147502
[TBL] [Abstract][Full Text] [Related]
24. Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis.
Salvinelli F; Casale M; D'Ascanio L; Firrisi L; Greco F; Baldi A
J Laryngol Otol; 2004 Jan; 118(1):8-11. PubMed ID: 14979964
[TBL] [Abstract][Full Text] [Related]
25. Phenotypic Characterization of DFNB16-associated Hearing Loss.
Back D; Shehata-Dieler W; Vona B; Hofrichter MAH; Schroeder J; Haaf T; Rahne T; Hagen R; Schraven SP
Otol Neurotol; 2019 Jan; 40(1):e48-e55. PubMed ID: 30531641
[TBL] [Abstract][Full Text] [Related]
26. Audiological features of GJB2 (connexin 26) deafness.
Liu XZ; Pandya A; Angeli S; Telischi FF; Arnos KS; Nance WE; Balkany T
Ear Hear; 2005 Jun; 26(3):361-9. PubMed ID: 15937416
[TBL] [Abstract][Full Text] [Related]
27. [Analysis of positive rate of common genetic mutations in 1448 cases with different hearing phenotype].
Wang G; Yuan Y; Li R; Han M; Huang S; Kang D; Zhang X; Dong M; Dai P; Han D
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2011 May; 25(10):445-8. PubMed ID: 21809555
[TBL] [Abstract][Full Text] [Related]
28. Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
Angeli SI
Laryngoscope; 2008 Nov; 118(11):2014-23. PubMed ID: 18758381
[TBL] [Abstract][Full Text] [Related]
29. De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss.
Huang S; Yuan Y; Liu J; Han D; Kang D; Zhang X; Dong M; Yan X; Dai P
Int J Pediatr Otorhinolaryngol; 2011 Oct; 75(10):1333-6. PubMed ID: 21868108
[TBL] [Abstract][Full Text] [Related]
30. Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
Riahi Z; Zainine R; Mellouli Y; Hannachi R; Bouyacoub Y; Laroussi N; Beltaief N; Kefi R; Romdhane L; Bonnet C; Abdelhak S; Besbes G
Int J Pediatr Otorhinolaryngol; 2013 Sep; 77(9):1481-4. PubMed ID: 23856378
[TBL] [Abstract][Full Text] [Related]
31. Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.
Huang S; Wang G; Xu Y; Yuan Y; Han D; Dai P
Acta Otolaryngol; 2013 Jan; 133(1):55-8. PubMed ID: 22991996
[TBL] [Abstract][Full Text] [Related]
32. Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece.
Iliadou V; Eleftheriades N; Metaxas AS; Skevas A; Kiratzidis T; Pampanos A; Voyiatzis N; Grigoriadou M; Petersen MB; Iliades T
Eur Arch Otorhinolaryngol; 2004 May; 261(5):259-61. PubMed ID: 15138772
[TBL] [Abstract][Full Text] [Related]
33. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population.
Sobe T; Vreugde S; Shahin H; Berlin M; Davis N; Kanaan M; Yaron Y; Orr-Urtreger A; Frydman M; Shohat M; Avraham KB
Hum Genet; 2000 Jan; 106(1):50-7. PubMed ID: 10982182
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.
Huang S; Han D; Wang G; Yuan Y; Song Y; Han M; Chen Z; Dai P
Int J Pediatr Otorhinolaryngol; 2013 Mar; 77(3):379-83. PubMed ID: 23266159
[TBL] [Abstract][Full Text] [Related]
36. The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.
Lameiras AR; Gonçalves AC; Santos R; O'Neill A; Reis LR; Matos TD; Fialho G; Caria H; Escada P
Int J Pediatr Otorhinolaryngol; 2015 Aug; 79(8):1316-9. PubMed ID: 26117665
[TBL] [Abstract][Full Text] [Related]
37. Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.
Löppönen T; Dietz A; Väisänen ML; Valtonen H; Kosunen A; Hyvärinen A; Ignatius J; Löppönen H
Acta Otolaryngol; 2012 Aug; 132(8):862-73. PubMed ID: 22668073
[TBL] [Abstract][Full Text] [Related]
38. Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss.
Erbe CB; Harris KC; Runge-Samuelson CL; Flanary VA; Wackym PA
Laryngoscope; 2004 Apr; 114(4):607-11. PubMed ID: 15064611
[TBL] [Abstract][Full Text] [Related]
39. Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.
Cama E; Melchionda S; Palladino T; Carella M; Santarelli R; Genovese E; Benettazzo F; Zelante L; Arslan E
Int J Audiol; 2009 Jan; 48(1):12-7. PubMed ID: 19173109
[TBL] [Abstract][Full Text] [Related]
40. Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene.
Zhao FF; Ji YB; Wang DY; Lan L; Han MK; Li Q; Zhao Y; Rao S; Han D; Wang QJ
Genet Test Mol Biomarkers; 2011 Sep; 15(9):619-25. PubMed ID: 21488715
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]