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2. 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]
3. Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss. Utrera R; Ridaura V; Rodríguez Y; Rojas MJ; Mago L; Angeli S; Henríquez O Genet Test; 2007; 11(4):347-52. PubMed ID: 18294049 [TBL] [Abstract][Full Text] [Related]
4. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. Abidi O; Boulouiz R; Nahili H; Ridal M; Alami MN; Tlili A; Rouba H; Masmoudi S; Chafik A; Hassar M; Barakat A Int J Pediatr Otorhinolaryngol; 2007 Aug; 71(8):1239-45. PubMed ID: 17553572 [TBL] [Abstract][Full Text] [Related]
5. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6. Bolz H; Schade G; Ehmer S; Kothe C; Hess M; Gal A Hear Res; 2004 Feb; 188(1-2):42-6. PubMed ID: 14759569 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
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. Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Santos RL; Aulchenko YS; Huygen PL; van der Donk KP; de Wijs IJ; Kemperman MH; Admiraal RJ; Kremer H; Hoefsloot LH; Cremers CW Int J Pediatr Otorhinolaryngol; 2005 Feb; 69(2):165-74. PubMed ID: 15656949 [TBL] [Abstract][Full Text] [Related]
10. Mutation in gap and tight junctions in patients with non-syndromic hearing loss. Belguith H; Tlili A; Dhouib H; Ben Rebeh I; Lahmar I; Charfeddine I; Driss N; Ghorbel A; Ayadi H; Masmoudi S Biochem Biophys Res Commun; 2009 Jul; 385(1):1-5. PubMed ID: 19254696 [TBL] [Abstract][Full Text] [Related]
11. [Mutation analysis of GJB2, GJB3 and GJB6 gene in deaf population from special educational school of Chifeng city]. Yuan Y; Huang D; Dai P; Zhu X; Yu F; Zhang X; Liu L; Han D Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2008 Jan; 22(1):14-7, 21. PubMed ID: 18338563 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. Loeza-Becerra F; Rivera-Vega Mdel R; Martínez-Saucedo M; Gonzalez-Huerta LM; Urueta-Cuellar H; Berrruecos-Villalobos P; Cuevas-Covarrubias S Int J Pediatr Otorhinolaryngol; 2014 Jul; 78(7):1057-60. PubMed ID: 24774219 [TBL] [Abstract][Full Text] [Related]
14. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Lerer I; Sagi M; Ben-Neriah Z; Wang T; Levi H; Abeliovich D Hum Mutat; 2001 Nov; 18(5):460. PubMed ID: 11668644 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling. Frei K; Ramsebner R; Lucas T; Hamader G; Szuhai K; Weipoltshammer K; Baumgartner WD; Wachtler FJ; Kirschhofer K Laryngoscope; 2005 Mar; 115(3):461-5. PubMed ID: 15744158 [TBL] [Abstract][Full Text] [Related]
17. Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. Cordeiro-Silva Mde F; Barbosa A; Santiago M; Provetti M; Dettogni RS; Tovar TT; Rabbi-Bortolini E; Louro ID Mol Biol Rep; 2011 Feb; 38(2):1309-13. PubMed ID: 20563649 [TBL] [Abstract][Full Text] [Related]
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19. Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant. Gazzaz B; Weil D; Raïs L; Akhyat O; Azeddoug H; Nadifi S Hear Res; 2005 Dec; 210(1-2):80-4. PubMed ID: 16243461 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]