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 *

401 related articles for article (PubMed ID: 26117665)

  • 1. 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]  

  • 2. Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
    Shen J; Oza AM; Del Castillo I; Duzkale H; Matsunaga T; Pandya A; Kang HP; Mar-Heyming R; Guha S; Moyer K; Lo C; Kenna M; Alexander JJ; Zhang Y; Hirsch Y; Luo M; Cao Y; Wai Choy K; Cheng YF; Avraham KB; Hu X; Garrido G; Moreno-Pelayo MA; Greinwald J; Zhang K; Zeng Y; Brownstein Z; Basel-Salmon L; Davidov B; Frydman M; Weiden T; Nagan N; Willis A; Hemphill SE; Grant AR; Siegert RK; DiStefano MT; Amr SS; Rehm HL; Abou Tayoun AN;
    Genet Med; 2019 Nov; 21(11):2442-2452. PubMed ID: 31160754
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
    Janecke AR; Hirst-Stadlmann A; Günther B; Utermann B; Müller T; Löffler J; Utermann G; Nekahm-Heis D
    Hum Genet; 2002 Aug; 111(2):145-53. PubMed ID: 12189487
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.
    Ben Said M; Dhouib H; BenZina Z; Ghorbel A; Moreno F; Masmoudi S; Ayadi H; Hmani-Aifa M
    Int J Pediatr Otorhinolaryngol; 2012 Jun; 76(6):832-6. PubMed ID: 22429511
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [The audiological phenotype and the prevalence of GJB2-related sensorineural loss of hearing in the infants suffering acoustic disturbances].
    Lalaiants MR; Markova TG; Bakhshinian VV; Bliznets EA; Poliakov AV; Tavartikiladze GA
    Vestn Otorinolaringol; 2014; (2):37-43. PubMed ID: 24781170
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
    Mikstiene V; Jakaitiene A; Byckova J; Gradauskiene E; Preiksaitiene E; Burnyte B; Tumiene B; Matuleviciene A; Ambrozaityte L; Uktveryte I; Domarkiene I; Rancelis T; Cimbalistiene L; Lesinskas E; Kucinskas V; Utkus A
    BMC Genet; 2016 Feb; 17():45. PubMed ID: 26896187
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
    Batissoco AC; Abreu-Silva RS; Braga MC; Lezirovitz K; Della-Rosa V; Alfredo T; Otto PA; Mingroni-Netto RC
    Ear Hear; 2009 Feb; 30(1):1-7. PubMed ID: 19125024
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.
    Salvago P; Martines E; La Mattina E; Mucia M; Sammarco P; Sireci F; Martines F
    Int J Audiol; 2014 Aug; 53(8):558-63. PubMed ID: 24793888
    [TBL] [Abstract][Full Text] [Related]  

  • 10. GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss.
    Zhang J; Wang Z; Dai W; Zeng Y; Li H
    Genet Test Mol Biomarkers; 2011 May; 15(5):313-8. PubMed ID: 21366436
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.
    Riahi Z; Chahed H; Jaafoura H; Zainine R; Messaoud O; Naili M; Nagara M; Hammami H; Laroussi N; Bouyacoub Y; Kefi R; Bonnet C; Besbes G; Abdelhak S
    Int J Pediatr Otorhinolaryngol; 2013 Sep; 77(9):1485-8. PubMed ID: 23856379
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples.
    Dória M; Neto AP; Santos AC; Barros H; Fernandes S; Moura CP
    Int J Pediatr Otorhinolaryngol; 2015 Dec; 79(12):2187-90. PubMed ID: 26482070
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Correlation between GJB2 mutations and audiological deficits: personal experience.
    Picciotti PM; Pietrobono R; Neri G; Paludetti G; Fetoni AR; Cianfrone F; Pomponi MG
    Eur Arch Otorhinolaryngol; 2009 Apr; 266(4):489-94. PubMed ID: 18668259
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
    Matos TD; Caria H; Simões-Teixeira H; Aasen T; Nickel R; Jagger DJ; O'Neill A; Kelsell DP; Fialho G
    J Med Genet; 2007 Nov; 44(11):721-5. PubMed ID: 17660464
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family.
    Huang A; Yuan Y; Duan N; Jiang X; Wang B; Liu Y; Kang D; Zhang X; Zhu Q; Dai P
    Int J Pediatr Otorhinolaryngol; 2014 Apr; 78(4):599-603. PubMed ID: 24503448
    [TBL] [Abstract][Full Text] [Related]  

  • 16. DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
    Tang HY; Fang P; Ward PA; Schmitt E; Darilek S; Manolidis S; Oghalai JS; Roa BB; Alford RL
    Am J Med Genet A; 2006 Nov; 140(22):2401-15. PubMed ID: 17041943
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort.
    Kecskeméti N; Szönyi M; Gáborján A; Küstel M; Milley GM; Süveges A; Illés A; Kékesi A; Tamás L; Molnár MJ; Szirmai Á; Gál A
    Eur Arch Otorhinolaryngol; 2018 Oct; 275(10):2441-2448. PubMed ID: 30094485
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [The results of audiological examination of children presenting with sensorineural loss of hearing due to GJB2 gene mutations during the first year of life].
    Lalaiants MR; Bliznets EA; Markova TG; Poliakov AV; Tavartkiladze GA
    Vestn Otorinolaringol; 2011; (3):31-5. PubMed ID: 21720291
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.
    Felix F; Ribeiro MG; Tomita S; Zalis MG
    Braz J Otorhinolaryngol; 2019; 85(1):92-98. PubMed ID: 29773520
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.