587 related articles for article (PubMed ID: 18294049)
1. 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]
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. 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]
4. Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness.
Esmaeili M; Bonyadi M; Nejadkazem M
Int J Pediatr Otorhinolaryngol; 2007 Jun; 71(6):869-73. PubMed ID: 17368814
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
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. Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria.
Frei K; Ramsebner R; Lucas T; Baumgartner WD; Schoefer C; Wachtler FJ; Kirschhofer K
Hear Res; 2004 Oct; 196(1-2):115-8. PubMed ID: 15464308
[TBL] [Abstract][Full Text] [Related]
9. GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.
Trabelsi M; Bahri W; Habibi M; Zainine R; Maazoul F; Ghazi B; Chaabouni H; Mrad R
Int J Pediatr Otorhinolaryngol; 2013 May; 77(5):714-6. PubMed ID: 23434199
[TBL] [Abstract][Full Text] [Related]
10. Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo-Brazil.
Cordeiro-Silva Mde F; Barbosa A; Santiago M; Provetti M; Rabbi-Bortolini E
Braz J Otorhinolaryngol; 2010; 76(4):428-32. PubMed ID: 20835527
[TBL] [Abstract][Full Text] [Related]
11. The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.
Talbi S; Bonnet C; Boudjenah F; Mansouri MT; Petit C; Ammar Khodja F
Int J Pediatr Otorhinolaryngol; 2019 Sep; 124():157-160. PubMed ID: 31200317
[TBL] [Abstract][Full Text] [Related]
12. Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.
Haghighat-Nia A; Keivani A; Nadeali Z; Fazel-Najafabadi E; Hosseinzadeh M; Salehi M
Int J Pediatr Otorhinolaryngol; 2015 Nov; 79(11):1892-5. PubMed ID: 26409293
[TBL] [Abstract][Full Text] [Related]
13. High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss.
Neocleous V; Aspris A; Shahpenterian V; Nicolaou V; Panagi C; Ioannou I; Kyamides Y; Anastasiadou V; Phylactou LA
Genet Test; 2006; 10(4):285-9. PubMed ID: 17253936
[TBL] [Abstract][Full Text] [Related]
14. Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients.
Dalamón V; Béhèran A; Diamante F; Pallares N; Diamante V; Elgoyhen AB
Hear Res; 2005 Sep; 207(1-2):43-9. PubMed ID: 15964725
[TBL] [Abstract][Full Text] [Related]
15. Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).
Rodriguez-Paris J; Tamayo ML; Gelvez N; Schrijver I
PLoS One; 2011; 6(6):e21665. PubMed ID: 21738759
[TBL] [Abstract][Full Text] [Related]
16. The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis.
Rodriguez-Paris J; Schrijver I
Biochem Biophys Res Commun; 2009 Nov; 389(2):354-9. PubMed ID: 19723508
[TBL] [Abstract][Full Text] [Related]
17. Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Bliznetz EA; Lalayants MR; Markova TG; Balanovsky OP; Balanovska EV; Skhalyakho RA; Pocheshkhova EA; Nikitina NV; Voronin SV; Kudryashova EK; Glotov OS; Polyakov AV
J Hum Genet; 2017 Aug; 62(8):789-795. PubMed ID: 28405014
[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. 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]
20. Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil.
Esteves MC; de Lima Isaac M; Francisco AM; da Silva Junior WA; Ferreira CA; Dell'Aringa AH
Eur Arch Otorhinolaryngol; 2014 Apr; 271(4):695-9. PubMed ID: 23553242
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
