-
1
-
-
49749087912
-
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population
-
Bajaj Y, Sirimanna T, Albert DM, et al. (2008) Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population. Clin Otolaryngol 33:313–318.
-
(2008)
Clin Otolaryngol
, vol.33
, pp. 313-318
-
-
Bajaj, Y.1
Sirimanna, T.2
Albert, D.M.3
-
2
-
-
12144287717
-
A genotype-phenotype correlation for GJB2 (connexin 26) deafness
-
Cryns K, Orzan E, Murgia A, et al. (2004) A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet 41:147–154.
-
(2004)
J Med Genet
, vol.41
, pp. 147-154
-
-
Cryns, K.1
Orzan, E.2
Murgia, A.3
-
3
-
-
0036384216
-
Hearing loss: frequency and functional studies of the most common connexin 26 alleles
-
D'Andrea P, Veronesi V, Bicego M, et al. (2002) Hearing loss: frequency and functional studies of the most common connexin 26 alleles. Biochem Biophys Res Commun 296:685–691.
-
(2002)
Biochem Biophys Res Commun
, vol.296
, pp. 685-691
-
-
D'Andrea, P.1
Veronesi, V.2
Bicego, M.3
-
4
-
-
22244489070
-
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 nonsyndromic hearing impairment
-
Del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, et al. (2005) A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 nonsyndromic hearing impairment. J Med Genet 42:588–594.
-
(2005)
J Med Genet
, vol.42
, pp. 588-594
-
-
Del Castillo, F.J.1
Rodriguez-Ballesteros, M.2
Alvarez, A.3
-
5
-
-
9144251659
-
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study
-
Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, et al. (2003) Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet 73:1452–1458.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1452-1458
-
-
Castillo, D.1
Moreno-Pelayo, M.A.2
Del Castillo, F.J.3
-
6
-
-
0033577528
-
Clinical features of the prevalente form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling
-
Denoyelle F, Marlin S, Weil D (1999) Clinical features of the prevalente form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. Lancet 353:1298–1303.
-
(1999)
Lancet
, vol.353
, pp. 1298-1303
-
-
Denoyelle, F.1
Marlin, S.2
Weil, D.3
-
7
-
-
51649092548
-
Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment
-
Gürtler N, Egenter C, Bösch N, Plasilova M (2008) Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment. Acta Otolaryngol 128:1056–1062.
-
(2008)
Acta Otolaryngol
, vol.128
, pp. 1056-1062
-
-
Gürtler, N.1
Egenter, C.2
Bösch, N.3
Plasilova, M.4
-
8
-
-
33747881938
-
Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes
-
Hismi BO, Yilmaz ST, Incesulu A, Tekin M (2006) Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes. Int J Pediatr Otorhinolaryngol 70:1687–1694.
-
(2006)
Int J Pediatr Otorhinolaryngol
, vol.70
, pp. 1687-1694
-
-
Hismi, B.O.1
Yilmaz, S.T.2
Incesulu, A.3
Tekin, M.4
-
9
-
-
0036654536
-
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review
-
Kenneson A, Van Naarden Braun K, Boyle C (2002) GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 4:258–274.
-
(2002)
Genet Med
, vol.4
, pp. 258-274
-
-
Kenneson, A.1
Van Naarden Braun, K.2
Boyle, C.3
-
10
-
-
0036590216
-
Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients
-
Oliveira CA, Maciel-Guerra AT, Sartorato EL (2002) Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients. Clin Genet 61:354–358.
-
(2002)
Clin Genet
, vol.61
, pp. 354-358
-
-
Oliveira, C.A.1
Maciel-Guerra, A.T.2
Sartorato, E.L.3
-
11
-
-
34147103366
-
Allelic frequencies of the c.35delG mutation of the GJB2 gene in different Brazilian regions
-
Oliveira CA, Pimpinati CJ, Alexandrino F, et al. (2007) Allelic frequencies of the c.35delG mutation of the GJB2 gene in different Brazilian regions. Genet Test 11:1–3.
-
(2007)
Genet Test
, vol.11
, pp. 1-3
-
-
Oliveira, C.A.1
Pimpinati, C.J.2
Alexandrino, F.3
-
12
-
-
0037422553
-
Color and genomic ancestry in Brazilians
-
Parra FC, Amado RC, Lambertucci JR, et al. (2003) Color and genomic ancestry in Brazilians. PNAS 100:177–182.
-
(2003)
PNAS
, vol.100
, pp. 177-182
-
-
Parra, F.C.1
Amado, R.C.2
Lambertucci, J.R.3
-
13
-
-
4644235017
-
Prevalence of the GJB2 mutations and the del(GJB6-d13s1830) mutation in Brazilian patients with deafness
-
Piatto VB, Bertollo EMG, Sartorato EL, Maniglia JV (2004) Prevalence of the GJB2 mutations and the del(GJB6-d13s1830) mutation in Brazilian patients with deafness. Hear Res 196: 87–93.
-
(2004)
Hear Res
, vol.196
, pp. 87-93
-
-
Piatto, V.B.1
Bertollo, E.M.G.2
Sartorato, E.L.3
Maniglia, J.V.4
-
14
-
-
19944432265
-
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations
-
Santos RL, Aulchenkoys YS, Huygen PL, et al. (2005) Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations. Int J Pediatr Otorhinolaryngol 69:165–174.
-
(2005)
Int J Pediatr Otorhinolaryngol
, vol.69
, pp. 165-174
-
-
Santos, R.L.1
Aulchenkoys, Y.S.2
Huygen, P.L.3
-
15
-
-
4344627625
-
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness
-
Seeman P, Malíková M, Rašková D, et al. (2004) Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. Clin Genet 66:152–157.
-
(2004)
Clin Genet
, vol.66
, pp. 152-157
-
-
Seeman, P.1
Malíková, M.2
Rašková, D.3
-
16
-
-
33646159552
-
High prevalence of the IVS 1+1 G>A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2
-
Seeman P, Sakmaryova I (2006) High prevalence of the IVS 1+1 G>A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2. Clin Genet 69:410–413.
-
(2006)
Clin Genet
, vol.69
, pp. 410-413
-
-
Seeman, P.1
Sakmaryova, I.2
-
17
-
-
0036524027
-
Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East
-
Shahin H, Walsh T, Sobe T, et al. (2002) Genetics of congenital deafness in the Palestinian population: multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet 110:284–289.
-
(2002)
Hum Genet
, vol.110
, pp. 284-289
-
-
Shahin, H.1
Walsh, T.2
Sobe, T.3
-
18
-
-
28144444402
-
GJB2 mutations and degree of hearing loss: a multicenter study
-
Snoeckx RL, Huygen PLM, Feldmann D, et al. (2005) GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 77:945–957.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 945-957
-
-
Snoeckx, R.L.1
Huygen, P.L.M.2
Feldmann, D.3
-
19
-
-
33750603199
-
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrierrates, complex genotypes, and ethnic stratification of alleles among controls
-
Tang HY, Fang P, Ward PA, et al. (2006) DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrierrates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A 140:2401–2415.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2401-2415
-
-
Tang, H.Y.1
Fang, P.2
Ward, P.A.3
-
20
-
-
0346363771
-
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA
-
Taylor CF, Charlton RS, Burn J, et al. (2003) Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. Hum Mutat 22:428–433.
-
(2003)
Hum Mutat
, vol.22
, pp. 428-433
-
-
Taylor, C.F.1
Charlton, R.S.2
Burn, J.3
-
21
-
-
0034096496
-
High frequency hearing loss correlated with mutations in the GJB2 gene
-
Wilcox SA, Saunders K, Osborn AH, et al. (2000) High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 106:399–405.
-
(2000)
Hum Genet
, vol.106
, pp. 399-405
-
-
Wilcox, S.A.1
Saunders, K.2
Osborn, A.H.3
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