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7. A Descriptive Observational Study of GJB2 and GJB6 Mutations in Familial Autosomal Recessive Non-syndromic Hearing Impairment. Dadhich A; Bhargava S; Samdhani S; Malhotra B; Mathur P; Rawat A; Grover M Indian J Otolaryngol Head Neck Surg; 2023 Dec; 75(4):3575-3580. PubMed ID: 37974894 [TBL] [Abstract][Full Text] [Related]
8. Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran. Naddafnia H; Noormohammadi Z; Irani S; Salahshoorifar I Mol Genet Genomic Med; 2019 Jul; 7(7):e00780. PubMed ID: 31162818 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant. Mahdieh N; Rabbani B; Shirkavand A; Bagherian H; Movahed ZS; Fouladi P; Rahiminejad F; Masoudifard M; Akbari MT; Zeinali S Genet Test Mol Biomarkers; 2011; 15(7-8):489-93. PubMed ID: 21388256 [TBL] [Abstract][Full Text] [Related]
12. Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families. Pandya A; O'Brien A; Kovasala M; Bademci G; Tekin M; Arnos KS Mol Genet Genomic Med; 2020 Apr; 8(4):e1171. PubMed ID: 32067424 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants. Koohiyan M; Hashemzadeh-Chaleshtori M; Salehi M; Abtahi H; Reiisi S; Pourreza MR; Noori-Daloii MR; Tabatabaiefar MA Int J Pediatr Otorhinolaryngol; 2018 Apr; 107():121-126. PubMed ID: 29501291 [TBL] [Abstract][Full Text] [Related]
15. GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary? Chen K; Wu X; Zong L; Jiang H J Clin Lab Anal; 2018 Nov; 32(9):e22592. PubMed ID: 29926981 [TBL] [Abstract][Full Text] [Related]
16. First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss. Al-Achkar W; Al-Halabi B; Ali B; Moassass F Int J Pediatr Otorhinolaryngol; 2017 Jan; 92():82-87. PubMed ID: 28012540 [TBL] [Abstract][Full Text] [Related]
17. Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment. Oluwole OG; Esoh KK; Wonkam-Tingang E; Manyisa N; Noubiap JJ; Chimusa ER; Wonkam A Exp Biol Med (Maywood); 2021 Jan; 246(2):197-206. PubMed ID: 32996353 [TBL] [Abstract][Full Text] [Related]
18. Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden. Adadey SM; Wonkam-Tingang E; Twumasi Aboagye E; Nayo-Gyan DW; Boatemaa Ansong M; Quaye O; Awandare GA; Wonkam A Life (Basel); 2020 Oct; 10(11):. PubMed ID: 33126609 [TBL] [Abstract][Full Text] [Related]
19. No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans. Wonkam A; Bosch J; Noubiap JJ; Lebeko K; Makubalo N; Dandara C S Afr Med J; 2015 Jan; 105(1):23-6. PubMed ID: 26046157 [TBL] [Abstract][Full Text] [Related]
20. Unique spectrum of GJB2 mutations in Mexico. de la Luz Arenas-Sordo M; Menendez I; Hernández-Zamora E; Sirmaci A; Gutiérrez-Tinajero D; McGetrick M; Murphy-Ruiz P; Leyva-Juárez X; Huesca-Hernández F; Dominguez-Aburto J; Tekin M Int J Pediatr Otorhinolaryngol; 2012 Nov; 76(11):1678-80. PubMed ID: 22925408 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]