-
1
-
-
0031934140
-
Universal infant hearing screening by automated auditory brainstem response measurement
-
Mason JA, Herrmann KR. Universal infant hearing screening by automated auditory brainstem response measurement. Pediatrics 1998;101:221-228.
-
(1998)
Pediatrics
, vol.101
, pp. 221-228
-
-
Mason, J.A.1
Herrmann, K.R.2
-
2
-
-
0033432807
-
The need for universal neonatal hearing screening-some aspects of epidemiology and identification
-
Parving A. The need for universal neonatal hearing screening-some aspects of epidemiology and identification. Acta Paediatr Suppl 1999;88:69-72.
-
(1999)
Acta Paediatr Suppl
, vol.88
, pp. 69-72
-
-
Parving, A.1
-
3
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80-83.
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
-
4
-
-
0036654536
-
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
-
Kenneson A, Van Naarden Braun K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med 2002;4:258-274.
-
(2002)
Genet Med
, vol.4
, pp. 258-274
-
-
Kenneson, A.1
Van Naarden Braun, K.2
Boyle, C.3
-
5
-
-
58149330520
-
Gap junctions and connexins in the inner ear: Their roles in homeostasis and deafness
-
Nickel R, Forge A. Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness. Curr Opin Otolaryngol Head Neck Surg 2008;16:452-457.
-
(2008)
Curr Opin Otolaryngol Head Neck Surg
, vol.16
, pp. 452-457
-
-
Nickel, R.1
Forge, A.2
-
6
-
-
21444432420
-
-
Available at, Accessed April 16, 2009
-
Ballana E, Ventayol M, Rabionet R, Gasparini P, Estivill X. The connexin-deafness homepage, 2009. Available at: http://davinci.crg.es/deafness. Accessed April 16, 2009.
-
(2009)
The connexin-deafness homepage
-
-
Ballana, E.1
Ventayol, M.2
Rabionet, R.3
Gasparini, P.4
Estivill, X.5
-
7
-
-
18344395853
-
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
-
Richard G, Rouan F, Willoughby CE, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 2002;70:1341-1348.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1341-1348
-
-
Richard, G.1
Rouan, F.2
Willoughby, C.E.3
-
8
-
-
9844245885
-
Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
Zelante L, Gasparini P, Estivill X, et al. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997;6:1605-1609.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
-
9
-
-
0033575109
-
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. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 1999;281:2211-2216.
-
(1999)
JAMA
, vol.281
, pp. 2211-2216
-
-
Green, G.E.1
Scott, D.A.2
McDonald, J.M.3
Woodworth, G.G.4
Sheffield, V.C.5
Smith, R.J.6
-
10
-
-
28144444402
-
GJB2 mutations and degree of hearing loss: A multicenter study
-
Snoeckx RL, Huygen PL, Feldmann D, et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet 2005;77:945-957.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 945-957
-
-
Snoeckx, R.L.1
Huygen, P.L.2
Feldmann, D.3
-
11
-
-
21244432046
-
GJB2 and GJB6 mutations: Genotypic and phenotypic correlations in a large cohort of hearing-impaired patients
-
Marlin S, Feldmann D, Blons H, et al. GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg 2005;131:481-487.
-
(2005)
Arch Otolaryngol Head Neck Surg
, vol.131
, pp. 481-487
-
-
Marlin, S.1
Feldmann, D.2
Blons, H.3
-
12
-
-
35848958382
-
M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance
-
Pollak A, Skórka A, Mueller-Malesinska M, et al. M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. Am J Med Genet A 2007;143:2534-2543.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 2534-2543
-
-
Pollak, A.1
Skórka, A.2
Mueller-Malesinska, M.3
-
13
-
-
0033577528
-
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counseling
-
Denoyelle F, Marlin S, Weil D, et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counseling. Lancet 1999;353:1298-1303.
-
(1999)
Lancet
, vol.353
, pp. 1298-1303
-
-
Denoyelle, F.1
Marlin, S.2
Weil, D.3
-
14
-
-
0033037643
-
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
-
Cohn ES, Kelley PM, Fowler TW, et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 1999;103:546-550.
-
(1999)
Pediatrics
, vol.103
, pp. 546-550
-
-
Cohn, E.S.1
Kelley, P.M.2
Fowler, T.W.3
-
15
-
-
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. 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 2003;73:1452-1458.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1452-1458
-
-
Del Castillo, I.1
Moreno-Pelayo, M.A.2
Del Castillo, F.J.3
-
16
-
-
2542461502
-
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis
-
Feldmann D, Denoyelle F, Chauvin P, et al. Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis. Am J Hum Genet A 2004;127:263-267.
-
(2004)
Am J Hum Genet A
, vol.127
, pp. 263-267
-
-
Feldmann, D.1
Denoyelle, F.2
Chauvin, P.3
-
17
-
-
34547683596
-
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
-
Putcha GV, Bejjani BA, Bleoo S, et al. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med 2007;9:413-426.
-
(2007)
Genet Med
, vol.9
, pp. 413-426
-
-
Putcha, G.V.1
Bejjani, B.A.2
Bleoo, S.3
-
18
-
-
0037565175
-
Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome
-
Yotsumoto S, Hashiguchi T, Chen X, et al. Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. Br J Dermatol 2003;4:649-653.
-
(2003)
Br J Dermatol
, vol.4
, pp. 649-653
-
-
Yotsumoto, S.1
Hashiguchi, T.2
Chen, X.3
-
19
-
-
0034614011
-
Contribution of the connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT
-
Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D. Contribution of the connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am J Med Genet 2000;95:53-56.
-
(2000)
Am J Med Genet
, vol.95
, pp. 53-56
-
-
Lerer, I.1
Sagi, M.2
Malamud, E.3
Levi, H.4
Raas-Rothschild, A.5
Abeliovich, D.6
-
20
-
-
0037413825
-
Loss-of-function and residual channel activity of connexin 26 mutations associated with non-syndromic deafness
-
Bruzzone R, Veronesi V, Gomès D, et al. Loss-of-function and residual channel activity of connexin 26 mutations associated with non-syndromic deafness. FEBS Lett 2003;533:79-88.
-
(2003)
FEBS Lett
, vol.533
, pp. 79-88
-
-
Bruzzone, R.1
Veronesi, V.2
Gomès, D.3
-
21
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998;62:792-799.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 792-799
-
-
Kelley, P.M.1
Harris, D.J.2
Comer, B.C.3
-
22
-
-
0034098926
-
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
-
Rabionet R, Zelante L, López-Bigas N, et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 2000;106:40-44.
-
(2000)
Hum Genet
, vol.106
, pp. 40-44
-
-
Rabionet, R.1
Zelante, L.2
López-Bigas, N.3
-
23
-
-
7244227967
-
High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals
-
Wattanasirichaigoon D, Limwongse C, Jariengprasert C, et al. High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals. Clin Genet 2004;66:452-460.
-
(2004)
Clin Genet
, vol.66
, pp. 452-460
-
-
Wattanasirichaigoon, D.1
Limwongse, C.2
Jariengprasert, C.3
-
24
-
-
0041303428
-
Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness
-
Hwa HL, Ko TM, Hsu CJ, et al. Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness. Genet Med 2003;5:161-165.
-
(2003)
Genet Med
, vol.5
, pp. 161-165
-
-
Hwa, H.L.1
Ko, T.M.2
Hsu, C.J.3
-
25
-
-
33645047652
-
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment
-
Palmada M, Schmalisch K, Böhmer C, et al. Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. Neurobiol Dis 2006;22:112-118.
-
(2006)
Neurobiol Dis
, vol.22
, pp. 112-118
-
-
Palmada, M.1
Schmalisch, K.2
Böhmer, C.3
-
26
-
-
33750597137
-
V37I connexin 26 allele in patients with sensorineural hearing loss: Evidence of its pathogenicity
-
Huculak C, Bruyere H, Nelson TN, Kozak FK, Langlois S. V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. Am J Med Genet A 2006;140:2394-2400.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2394-2400
-
-
Huculak, C.1
Bruyere, H.2
Nelson, T.N.3
Kozak, F.K.4
Langlois, S.5
-
27
-
-
64849090763
-
Audiologic and temporal bone findings in patients with sensorineural hearing loss and GJB2 mutations
-
Lee KH, Larson DA, Shott G, et al. Audiologic and temporal bone findings in patients with sensorineural hearing loss and GJB2 mutations. Laryngoscope 2009;119:554-558.
-
(2009)
Laryngoscope
, vol.119
, pp. 554-558
-
-
Lee, K.H.1
Larson, D.A.2
Shott, G.3
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