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4. The novel c.247_249delTTC (p.F83del) GJB2 mutation in a family with prelingual sensorineural deafness. Petersen MB; Grigoriadou M; Koutroumpe M; Kokotas H Int J Pediatr Otorhinolaryngol; 2012 Jul; 76(7):969-71. PubMed ID: 22484064 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran. Bonyadi MJ; Fotouhi N; Esmaeili M Int J Pediatr Otorhinolaryngol; 2014 Apr; 78(4):637-40. PubMed ID: 24529908 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. Green GE; Scott DA; McDonald JM; Woodworth GG; Sheffield VC; Smith RJ JAMA; 1999 Jun; 281(23):2211-6. PubMed ID: 10376574 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation. Xiao ZA; Xie DH Chin Med J (Engl); 2004 Dec; 117(12):1797-801. PubMed ID: 15603707 [TBL] [Abstract][Full Text] [Related]
11. Prevalence of GBJ2 mutations in patients with severe to profound congenital nonsyndromic sensorineural hearing loss in Bulgarian population. Popova DP; Kaneva R; Varbanova S; Popov TM Eur Arch Otorhinolaryngol; 2012 Jun; 269(6):1589-92. PubMed ID: 22037723 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. [Non-invasive screening for GJB2 mutations in buccal smears for the diagnosis of inherited hearing impairment]. Schade G; Kothe C; Ruge G; Hess M; Meyer CG Laryngorhinootologie; 2003 Jun; 82(6):397-401. PubMed ID: 12851846 [TBL] [Abstract][Full Text] [Related]
16. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Rabionet R; Zelante L; López-Bigas N; D'Agruma L; Melchionda S; Restagno G; Arbonés ML; Gasparini P; Estivill X Hum Genet; 2000 Jan; 106(1):40-4. PubMed ID: 10982180 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Prasad S; Cucci RA; Green GE; Smith RJ Hum Mutat; 2000 Dec; 16(6):502-8. PubMed ID: 11102979 [TBL] [Abstract][Full Text] [Related]