-
1
-
-
0027494118
-
Hearing loss
-
Nadal Jr. J.B. Hearing loss. N. Engl. J. Med. 329 15 (1993) 1029-1102
-
(1993)
N. Engl. J. Med.
, vol.329
, Issue.15
, pp. 1029-1102
-
-
Nadal Jr., J.B.1
-
2
-
-
0026410464
-
Genetic epidemiology of hearing impairement
-
Morton N.E. Genetic epidemiology of hearing impairement. Ann. N. Y. Acad. Sci. 630 (1991) 16-31
-
(1991)
Ann. N. Y. Acad. Sci.
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
3
-
-
0003539147
-
-
Oxford University Press, Oxford, UK
-
Gorlin R.J., Toriello H.V., and Cohen FM.N. Heriditary Hearing Loss and its Syndromes (1995), Oxford University Press, Oxford, UK
-
(1995)
Heriditary Hearing Loss and its Syndromes
-
-
Gorlin, R.J.1
Toriello, H.V.2
Cohen, FM.N.3
-
4
-
-
33646150467
-
Non-syndromic, autosomal recessive deafness
-
Peterson M.B., and Willems P.J. Non-syndromic, autosomal recessive deafness. Clin. Genet. 69 (2006) 371-392
-
(2006)
Clin. Genet.
, vol.69
, pp. 371-392
-
-
Peterson, M.B.1
Willems, P.J.2
-
5
-
-
0032547941
-
A new era in the genetics of deafness
-
Steel K.P. A new era in the genetics of deafness. New Eng. J. Med. 339 (1998) 1545-1547
-
(1998)
New Eng. J. Med.
, vol.339
, pp. 1545-1547
-
-
Steel, K.P.1
-
6
-
-
17344373747
-
Mutation in the encoding gap junction protein beta- 3 associated with autosomaldominant hearing impairement
-
Xia J.H., Lui C.Y., Tang B.S., Pan Q., Huang L., Dai H.P., Zhang B.R., Xie W., Hu D.X., Zhang D., et al. Mutation in the encoding gap junction protein beta- 3 associated with autosomaldominant hearing impairement. Nat. Genet. 20 (1998) 370-373
-
(1998)
Nat. Genet.
, vol.20
, pp. 370-373
-
-
Xia, J.H.1
Lui, C.Y.2
Tang, B.S.3
Pan, Q.4
Huang, L.5
Dai, H.P.6
Zhang, B.R.7
Xie, W.8
Hu, D.X.9
Zhang, D.10
-
7
-
-
0036654536
-
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review
-
Kenneson A., Van Naarden Braun K., and Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet. Med. (2002) 258-274
-
(2002)
Genet. Med.
, pp. 258-274
-
-
Kenneson, A.1
Van Naarden Braun, K.2
Boyle, C.3
-
8
-
-
9844245885
-
Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
Zelante L., Gasparini P., Estivill X., Melchionda S., D'Agruma L., and Govea N. Connexin 26 mutations associated with the most common form of nonsyndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum. Mol. Genet. 6 1458 (1997) 1605-1609
-
(1997)
Hum. Mol. Genet.
, vol.6
, Issue.1458
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
-
9
-
-
28144444402
-
GJB2 mutations and degree of hearing loss: a multicenter study
-
Snoeckx R.L., Huygen P.L., Feldmann D., Marlin S., Denoyelle F., Waligora J., et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am. J. Hum. Genet. 77 (2005) 945-957
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 945-957
-
-
Snoeckx, R.L.1
Huygen, P.L.2
Feldmann, D.3
Marlin, S.4
Denoyelle, F.5
Waligora, J.6
-
10
-
-
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. 73 (2003) 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
-
11
-
-
22244489070
-
A novel deletion involving the connexin-30 gene, del (GJB6-D13S1830), found in trans with mutations in the GJB2 gene (connexin36) in subjects with DFNB1 non-syndromic hearing impairment
-
Del Castillo F.J., Rodriguez-Ballesteros M., Alvarez A., Hutchin T., Leonardi E., De Oliveria C.A., et al. A novel deletion involving the connexin-30 gene, del (GJB6-D13S1830), found in trans with mutations in the GJB2 gene (connexin36) in subjects with DFNB1 non-syndromic hearing impairment. J. Med. Genet. 42 (2005) 588-594
-
(2005)
J. Med. Genet.
, vol.42
, pp. 588-594
-
-
Del Castillo, F.J.1
Rodriguez-Ballesteros, M.2
Alvarez, A.3
Hutchin, T.4
Leonardi, E.5
De Oliveria, C.A.6
-
13
-
-
0034018259
-
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
-
Lui X.Z., Xia X.J., Xu L.R., Pandya A., Liang C.Y., Blanton S.H., Brown S.D., Steel K.P., and Nance W.E. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum. Mol. Genet. 9 1 (2000) 63-67
-
(2000)
Hum. Mol. Genet.
, vol.9
, Issue.1
, pp. 63-67
-
-
Lui, X.Z.1
Xia, X.J.2
Xu, L.R.3
Pandya, A.4
Liang, C.Y.5
Blanton, S.H.6
Brown, S.D.7
Steel, K.P.8
Nance, W.E.9
-
14
-
-
0031796918
-
Mutations in the human connexion gene GJB3 cause erythrokeratodermia variabilis
-
Richard G., Smith L.E., Bailey R.A., Itin P., Hohl D., Epstein Jr. E.H., DiGiovanna J.J., Compton J.G., and Bale S.J. Mutations in the human connexion gene GJB3 cause erythrokeratodermia variabilis. Nature Genet. 20 (1998) 366-369
-
(1998)
Nature Genet.
, vol.20
, pp. 366-369
-
-
Richard, G.1
Smith, L.E.2
Bailey, R.A.3
Itin, P.4
Hohl, D.5
Epstein Jr., E.H.6
DiGiovanna, J.J.7
Compton, J.G.8
Bale, S.J.9
-
15
-
-
27744466817
-
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., and Nadifi S. Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant. Hear. Res. 210 1-2 (2005) 80-84
-
(2005)
Hear. Res.
, vol.210
, Issue.1-2
, pp. 80-84
-
-
Gazzaz, B.1
Weil, D.2
Raïs, L.3
Akhyat, O.4
Azeddoug, H.5
Nadifi, S.6
-
16
-
-
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., Rouba H., Masmoudi S., Chafik A., Hassar M., and Barakat A. 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. 71 8 (2007) 1239-1245
-
(2007)
Int. J. Pediatr. Otorhinolaryngol.
, vol.71
, Issue.8
, pp. 1239-1245
-
-
Abidi, O.1
Boulouiz, R.2
Nahili, H.3
Ridal, M.4
Alami, M.N.5
Tlili, A.6
Rouba, H.7
Masmoudi, S.8
Chafik, A.9
Hassar, M.10
Barakat, A.11
-
17
-
-
0043133727
-
Mutation analysis of connexion 31(GJB3) in sporadic non syndromic hearing impairement
-
Mathre A.N., Weld E., and Lalwani A.K. Mutation analysis of connexion 31(GJB3) in sporadic non syndromic hearing impairement. Clin. Genet. 63 2 (2003) 154-159
-
(2003)
Clin. Genet.
, vol.63
, Issue.2
, pp. 154-159
-
-
Mathre, A.N.1
Weld, E.2
Lalwani, A.K.3
-
20
-
-
0035871208
-
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
-
Ĺopez-Bigas Nr, Oliv́e M., Rabionet R., Ben-David O., Mart́i{dotless}nez-Matos J.A., et al. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum. Mol. Genet. 10 (2001) 947-952
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 947-952
-
-
Ĺopez-Bigas Nr1
Oliv́e, M.2
Rabionet, R.3
Ben-David, O.4
Mart́inez-Matos, J.A.5
-
21
-
-
3342971366
-
-
Klemens Frei, Reinhard Ramsebner, Gertrude Hamader, Trevor Lucas, Christian Schoefer, Wolf-Dieter Baumgartner, Franz J. Wachtler, Karin Kirschhofer 2004 Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria, Hearing Res. 194 (2004) 81-86.
-
Klemens Frei, Reinhard Ramsebner, Gertrude Hamader, Trevor Lucas, Christian Schoefer, Wolf-Dieter Baumgartner, Franz J. Wachtler, Karin Kirschhofer 2004 Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria, Hearing Res. 194 (2004) 81-86.
-
-
-
-
22
-
-
2942735102
-
Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness
-
Alexandrino F., Oliveira C.A., Reis F.C., Maciel-Guerra A.T., and Sartorato E.L. Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness. J. Appl. Genet. 45 2 (2004) 249-254
-
(2004)
J. Appl. Genet.
, vol.45
, Issue.2
, pp. 249-254
-
-
Alexandrino, F.1
Oliveira, C.A.2
Reis, F.C.3
Maciel-Guerra, A.T.4
Sartorato, E.L.5
-
23
-
-
0036947286
-
Connexin 26 gene (GJB2): prevalence of mutations in the Chinese population
-
Liu X., Ke Y., Qi W., and Li P. Connexin 26 gene (GJB2): prevalence of mutations in the Chinese population. J. Hum. Genet. 47 (2002) 688-690
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 688-690
-
-
Liu, X.1
Ke, Y.2
Qi, W.3
Li, P.4
-
24
-
-
38349023660
-
Prevalence of connexin 26 mutations in patients from jordan with non syndromic hearing loss
-
Mahasneh A., and Battah R.M. Prevalence of connexin 26 mutations in patients from jordan with non syndromic hearing loss. J. Med. Genet. Int. J. Hum. Genet. 6 2 (2006) 119-124
-
(2006)
J. Med. Genet. Int. J. Hum. Genet.
, vol.6
, Issue.2
, pp. 119-124
-
-
Mahasneh, A.1
Battah, R.M.2
-
25
-
-
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., Yuksel-Apak M., and Wollnik B. Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss. Clin. Genet. 64 (2003) 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
Yuksel-Apak, M.7
Wollnik, B.8
-
26
-
-
18044390304
-
-
Kalay E., Caylan R., Kremer H., de Brouwer A.P., and Karaguzel A. Int. J. Pediatr. Otorhinolaryngol. Hear. Res. 203 1-2 (2005) 88-93
-
(2005)
Int. J. Pediatr. Otorhinolaryngol. Hear. Res.
, vol.203
, Issue.1-2
, pp. 88-93
-
-
Kalay, E.1
Caylan, R.2
Kremer, H.3
de Brouwer, A.P.4
Karaguzel, A.5
-
27
-
-
13444274773
-
Double 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., Bendova O., Raskova D., Malikova M., Groh D., and Kabelka Z. Double 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. 69 (2005) 9-14
-
(2005)
Ann. Hum. Genet.
, vol.69
, pp. 9-14
-
-
Seeman, P.1
Bendova, O.2
Raskova, D.3
Malikova, M.4
Groh, D.5
Kabelka, Z.6
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