-
1
-
-
0027494118
-
Hearing loss
-
Nadal J. Hearing loss. N Engl J Med 1993, 329:1029-1102.
-
(1993)
N Engl J Med
, vol.329
, pp. 1029-1102
-
-
Nadal, J.1
-
2
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
Morton N.E. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991, 630:6-31.
-
(1991)
Ann N Y Acad Sci
, vol.630
, pp. 6-31
-
-
Morton, N.E.1
-
3
-
-
0032547941
-
A new era in the genetics of deafness
-
Steel K.P. A new era in the genetics of deafness. New Eng J Med 1998, 339:1545-1547.
-
(1998)
New Eng J Med
, vol.339
, pp. 1545-1547
-
-
Steel, K.P.1
-
4
-
-
17344373747
-
Mutation in the encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
-
Xia J.H., Liu C.Y., Tang B.S., Pan Q., Huang L., Dai H.P., et al. Mutation in the encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 1998, 20:370-373.
-
(1998)
Nat Genet
, vol.20
, pp. 370-373
-
-
Xia, J.H.1
Liu, C.Y.2
Tang, B.S.3
Pan, Q.4
Huang, L.5
Dai, H.P.6
-
5
-
-
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
-
6
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N., Parry G., 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
Lench, N.J.4
Liang, J.N.5
Parry, G.6
-
7
-
-
0343527349
-
Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene
-
Lefebvre P.P., Van De Water T.R. Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene. Brain Res Brain Res Rev 2000, 32:159-162.
-
(2000)
Brain Res Brain Res Rev
, vol.32
, pp. 159-162
-
-
Lefebvre, P.P.1
Van De Water, T.R.2
-
8
-
-
0032846415
-
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
-
Grifa A., Wagner C.A., D'Ambrosio L., Melchionda S., Bernardi F., Lopez-Bigas N., et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 1999, 23:16-18.
-
(1999)
Nat Genet
, vol.23
, pp. 16-18
-
-
Grifa, A.1
Wagner, C.A.2
D'Ambrosio, L.3
Melchionda, S.4
Bernardi, F.5
Lopez-Bigas, N.6
-
9
-
-
9144251659
-
Prevalence and evolutionary origins of the del (GJB6-D13S1380) mutation in the DFNB1 locus in hearing impaired subjects: a multicenter study
-
Del Castillo I., Moreno-Pelayo M.A., Del Castillo F.J., Brownstein Z., Marlin S., Adina Q., et al. Prevalence and evolutionary origins of the del (GJB6-D13S1380) 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
Brownstein, Z.4
Marlin, S.5
Adina, Q.6
-
10
-
-
22244489070
-
A novel deletion involving the connexin-30 gene, del (GJB6-D13S1830), found in trans with mutations in the GJB2 gene (connexin 36) in subjects with DFNB1 non-syndromic hearing impairment
-
Del Castillo F.J., Rodríguez-Ballesteros M., Alvarez A., Hutchin T., Leonardi E., de Oliveira C.A., et al. A novel deletion involving the connexin-30 gene, del (GJB6-D13S1830), found in trans with mutations in the GJB2 gene (connexin 36) in subjects with DFNB1 non-syndromic hearing impairment. J Med Genet 2005, 42:588-594.
-
(2005)
J Med Genet
, vol.42
, pp. 588-594
-
-
Del Castillo, F.J.1
Rodríguez-Ballesteros, M.2
Alvarez, A.3
Hutchin, T.4
Leonardi, E.5
de Oliveira, C.A.6
-
11
-
-
67349178107
-
Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment
-
Bhalla S., Sharma R., Khandelwal G., Panda N.K., Khullar M. Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment. Biochem Biophys Res Commun 2009, 385:445-448.
-
(2009)
Biochem Biophys Res Commun
, vol.385
, pp. 445-448
-
-
Bhalla, S.1
Sharma, R.2
Khandelwal, G.3
Panda, N.K.4
Khullar, M.5
-
12
-
-
0037165262
-
A deletion involving the connexin 30 gene in non-syndromic hearing impairment
-
Del Castillo I., Villamar M., Moreno-Pelayo M.A., Del Castillo F.J., Alvarez A., Telleria D., et al. A deletion involving the connexin 30 gene in non-syndromic hearing impairment. N Engl J Med 2002, 346:243-249.
-
(2002)
N Engl J Med
, vol.346
, pp. 243-249
-
-
Del Castillo, I.1
Villamar, M.2
Moreno-Pelayo, M.A.3
Del Castillo, F.J.4
Alvarez, A.5
Telleria, D.6
-
13
-
-
73949157193
-
GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment
-
Padma G., Ramchander P.V., Nandur U.V., Padma T. GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment. J Genet 2009, 88:267-272.
-
(2009)
J Genet
, vol.88
, pp. 267-272
-
-
Padma, G.1
Ramchander, P.V.2
Nandur, U.V.3
Padma, T.4
-
14
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley P.M., Harris D.J., Comer B., Askew J.W., Fowler T., Smith S.D., 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.3
Askew, J.W.4
Fowler, T.5
Smith, S.D.6
-
15
-
-
0043133524
-
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss
-
Uyguner O., Emiroglu M., Uzumcu A., Hafiz G., Ghanbari A., Baserer N., et al. Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. Clin Genet 2003, 64:65-69.
-
(2003)
Clin Genet
, vol.64
, pp. 65-69
-
-
Uyguner, O.1
Emiroglu, M.2
Uzumcu, A.3
Hafiz, G.4
Ghanbari, A.5
Baserer, N.6
-
16
-
-
34147185848
-
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment
-
Samanich J., Lowes C., Burk R., Shanske S., Lu J., Shanske A., et al. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. Am J Med Genet 2007, 143A:830-838.
-
(2007)
Am J Med Genet
, vol.143
, Issue.A
, pp. 830-838
-
-
Samanich, J.1
Lowes, C.2
Burk, R.3
Shanske, S.4
Lu, J.5
Shanske, A.6
-
17
-
-
34347358484
-
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 M.N., Tlili A., et al. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. Int J Pediatr Otorhinolaryngol 2007, 71:1239-1245.
-
(2007)
Int J Pediatr Otorhinolaryngol
, vol.71
, pp. 1239-1245
-
-
Abidi, O.1
Boulouiz, R.2
Nahili, H.3
Ridal, M.4
Alami, M.N.5
Tlili, A.6
-
18
-
-
0036821083
-
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
-
Liu X., Xia X.J., Ke X.M., Ouyang X.M., Du L.L., Liu Y.H., et al. The prevalence of connexin 26 (GJB2) mutations in the Chinese population. Hum Genet 2002, 111:394-397.
-
(2002)
Hum Genet
, vol.111
, pp. 394-397
-
-
Liu, X.1
Xia, X.J.2
Ke, X.M.3
Ouyang, X.M.4
Du, L.L.5
Liu, Y.H.6
-
19
-
-
34247645308
-
Screening of GJB6 gene for the 342-kb deletion in patients from Jordan with non syndromic hearing loss
-
Mahasneh A.A., Al-Asseer M.H. Screening of GJB6 gene for the 342-kb deletion in patients from Jordan with non syndromic hearing loss. Int J Hum Genet 2005, 5:253-257.
-
(2005)
Int J Hum Genet
, vol.5
, pp. 253-257
-
-
Mahasneh, A.A.1
Al-Asseer, M.H.2
-
20
-
-
1842477225
-
The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects
-
Fitzgerald T., Duva S., Ostrer H., Pass K., Oddoux C., Ruben R., et al. The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects. Clin Genet 2004, 65:1-6.
-
(2004)
Clin Genet
, vol.65
, pp. 1-6
-
-
Fitzgerald, T.1
Duva, S.2
Ostrer, H.3
Pass, K.4
Oddoux, C.5
Ruben, R.6
-
21
-
-
13444274773
-
Heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population
-
Seeman P., Bendová O., Rasková D., Malíková M., Groh D., Kabelka Z. Heterozygosity with mutations involving both the GJB2 and GJB6 genes is a possible, but very rare, cause of congenital deafness in the Czech population. Ann Hum Genet 2005, 69:9-14.
-
(2005)
Ann Hum Genet
, vol.69
, pp. 9-14
-
-
Seeman, P.1
Bendová, O.2
Rasková, D.3
Malíková, M.4
Groh, D.5
Kabelka, Z.6
-
22
-
-
12244300886
-
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
-
Teubner B., Michel V., Pesch J., Lautermann J., Cohen-Salmon M., Söhl G., et al. Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum Mol Genet 2003, 12:13-21.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 13-21
-
-
Teubner, B.1
Michel, V.2
Pesch, J.3
Lautermann, J.4
Cohen-Salmon, M.5
Söhl, G.6
-
23
-
-
10744224474
-
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands
-
Pandya A., Arnos K.S., Xia X.J., Welch K.O., Blanton S.H., Friedman T.B., et al. Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Genet Med 2003, 5:295-303.
-
(2003)
Genet Med
, vol.5
, pp. 295-303
-
-
Pandya, A.1
Arnos, K.S.2
Xia, X.J.3
Welch, K.O.4
Blanton, S.H.5
Friedman, T.B.6
-
24
-
-
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., Garabédian E.N., Couderc R., Odent S., et al. Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis. Am J Med Genet A 2004, 15:263-267.
-
(2004)
Am J Med Genet A
, vol.15
, pp. 263-267
-
-
Feldmann, D.1
Denoyelle, F.2
Chauvin, P.3
Garabédian, E.N.4
Couderc, R.5
Odent, S.6
-
25
-
-
85047699401
-
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
-
Pallares-Ruiz N., Blanchet P., Mondain M., Claustres M., Roux A.F. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?. Eur J Hum Genet 2002, 10:72-76.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 72-76
-
-
Pallares-Ruiz, N.1
Blanchet, P.2
Mondain, M.3
Claustres, M.4
Roux, A.F.5
-
26
-
-
0038491488
-
Connexin-30 deletion analysis in connexin-26 heterozygotes
-
Stevenson V.A., Ito M., Milunsky J.M. Connexin-30 deletion analysis in connexin-26 heterozygotes. Genet Test 2003, 7:151-154.
-
(2003)
Genet Test
, vol.7
, pp. 151-154
-
-
Stevenson, V.A.1
Ito, M.2
Milunsky, J.M.3
-
27
-
-
0035513485
-
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., Abellovich D. A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi jews. Hum Mutat 2001, 18:460.
-
(2001)
Hum Mutat
, vol.18
, pp. 460
-
-
Lerer, I.1
Sagi, M.2
Ben-Neriah, Z.3
Wang, T.4
Levi, H.5
Abellovich, D.6
|