-
1
-
-
77957795431
-
Profound deafness in childhood
-
Kral A., O'Donoghue G.M. Profound deafness in childhood. N. Engl. J. Med. 2010, 363(15):1438-1450.
-
(2010)
N. Engl. J. Med.
, vol.363
, Issue.15
, pp. 1438-1450
-
-
Kral, A.1
O'Donoghue, G.M.2
-
2
-
-
84856774182
-
-
The Hereditary Hearing Loss Homepage (cited September 29). Available from: .
-
The Hereditary Hearing Loss Homepage (cited 2011 September 29). Available from: http://hereditaryhearingloss.org/main.aspx%3Fc=.HHH%26n=86162.
-
(2011)
-
-
-
3
-
-
84856771632
-
-
The Connexin-Deafness Homepage (cited September 29). Available from: .
-
The Connexin-Deafness Homepage (cited 2011 September 29). Available from: http://davinci.crg.es/deafness/.
-
(2011)
-
-
-
4
-
-
0141890058
-
GJB2 mutations in the Swiss hearing impaired
-
Gurtler N., Kim Y., Mhatre A., Muller R., Probst R., Lalwani A.K. GJB2 mutations in the Swiss hearing impaired. Ear Hear. 2003, 24(5):440-447.
-
(2003)
Ear Hear.
, vol.24
, Issue.5
, pp. 440-447
-
-
Gurtler, N.1
Kim, Y.2
Mhatre, A.3
Muller, R.4
Probst, R.5
Lalwani, A.K.6
-
5
-
-
28644448163
-
GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis
-
Minarik G., Ferakova E., Ficek A., Polakova H., Kadasi L. GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis. Clin. Genet. 2005, 68(6):554-557.
-
(2005)
Clin. Genet.
, vol.68
, Issue.6
, pp. 554-557
-
-
Minarik, G.1
Ferakova, E.2
Ficek, A.3
Polakova, H.4
Kadasi, L.5
-
6
-
-
77951908830
-
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf
-
Tekin M., Xia X.J., Erdenetungalag R., Cengiz F.B., White T.W., Radnaabazar J., et al. GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. Ann. Hum. Genet. 2010, 74(2):155-164.
-
(2010)
Ann. Hum. Genet.
, vol.74
, Issue.2
, pp. 155-164
-
-
Tekin, M.1
Xia, X.J.2
Erdenetungalag, R.3
Cengiz, F.B.4
White, T.W.5
Radnaabazar, J.6
-
7
-
-
78149278754
-
A large cohort study of GJB2 mutations in Japanese hearing loss patients
-
Tsukada K., Nishio S., Usami S. A large cohort study of GJB2 mutations in Japanese hearing loss patients. Clin. Genet. 2010, 78(5):464-470.
-
(2010)
Clin. Genet.
, vol.78
, Issue.5
, pp. 464-470
-
-
Tsukada, K.1
Nishio, S.2
Usami, S.3
-
8
-
-
58649105094
-
High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India
-
Joseph A.Y., Rasool T.J. High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India. Int. J. Pediatr. Otorhinolaryngol. 2009, 73(3):437-443.
-
(2009)
Int. J. Pediatr. Otorhinolaryngol.
, vol.73
, Issue.3
, pp. 437-443
-
-
Joseph, A.Y.1
Rasool, T.J.2
-
9
-
-
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(3):267-272.
-
(2009)
J. Genet.
, vol.88
, Issue.3
, pp. 267-272
-
-
Padma, G.1
Ramchander, P.V.2
Nandur, U.V.3
Padma, T.4
-
10
-
-
0034614011
-
Contribution of 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 connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT. Am. J. Med. Genet. 2000, 95(1):53-56.
-
(2000)
Am. J. Med. Genet.
, vol.95
, Issue.1
, pp. 53-56
-
-
Lerer, I.1
Sagi, M.2
Malamud, E.3
Levi, H.4
Raas-Rothschild, A.5
Abeliovich, D.6
-
11
-
-
0037165262
-
A deletion involving the connexin 30 gene in nonsyndromic 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 nonsyndromic hearing impairment. N. Engl. J. Med. 2002, 346(4):243-249.
-
(2002)
N. Engl. J. Med.
, vol.346
, Issue.4
, 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
-
12
-
-
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., Abeliovich 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(5):460.
-
(2001)
Hum. Mutat.
, vol.18
, Issue.5
, pp. 460
-
-
Lerer, I.1
Sagi, M.2
Ben-Neriah, Z.3
Wang, T.4
Levi, H.5
Abeliovich, D.6
-
13
-
-
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(1):72-76.
-
(2002)
Eur. J. Hum. Genet.
, vol.10
, Issue.1
, pp. 72-76
-
-
Pallares-Ruiz, N.1
Blanchet, P.2
Mondain, M.3
Claustres, M.4
Roux, A.F.5
-
14
-
-
77956472343
-
DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome
-
Chora J.R., Matos T.D., Martins J.H., Alves M.C., Andrade S.M., Silva L.F., et al. DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome. Int. J. Pediatr. Otorhinolaryngol. 2010, 74(10):1135-1139.
-
(2010)
Int. J. Pediatr. Otorhinolaryngol.
, vol.74
, Issue.10
, pp. 1135-1139
-
-
Chora, J.R.1
Matos, T.D.2
Martins, J.H.3
Alves, M.C.4
Andrade, S.M.5
Silva, L.F.6
-
15
-
-
7144228618
-
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
-
Scott D.A., Kraft M.L., Carmi R., Ramesh A., Elbedour K., Yairi Y., et al. Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum. Mutat. 1998, 11(5):387-394.
-
(1998)
Hum. Mutat.
, vol.11
, Issue.5
, pp. 387-394
-
-
Scott, D.A.1
Kraft, M.L.2
Carmi, R.3
Ramesh, A.4
Elbedour, K.5
Yairi, Y.6
-
16
-
-
33646159552
-
High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2
-
Seeman P., Sakmaryova I. High prevalence of the IVS 1+1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2. Clin. Genet. 2006, 69(5):410-413.
-
(2006)
Clin. Genet.
, vol.69
, Issue.5
, pp. 410-413
-
-
Seeman, P.1
Sakmaryova, I.2
-
17
-
-
1542757104
-
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria
-
Gunther B., Steiner A., Nekahm-Heis D., Albegger K., Zorowka P., Utermann G., et al. The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria. Hum. Mutat. 2003, 22(2):180.
-
(2003)
Hum. Mutat.
, vol.22
, Issue.2
, pp. 180
-
-
Gunther, B.1
Steiner, A.2
Nekahm-Heis, D.3
Albegger, K.4
Zorowka, P.5
Utermann, G.6
-
18
-
-
84856774181
-
-
UniProtKB - Protein KnowledgeBase (UniProtKB) (cited September 29). Available from: .
-
UniProtKB - Protein KnowledgeBase (UniProtKB) (cited 2011 September 29). Available from: http://www.uniprot.org/uniprot/P29033.
-
(2011)
-
-
-
19
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., et al. A method and server for predicting damaging missense mutations. Nat. Methods 2010, 7(4):248-249.
-
(2010)
Nat. Methods
, vol.7
, Issue.4
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
-
20
-
-
1542286154
-
High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL)
-
Minarik G., Ferak V., Ferakova E., Ficek A., Polakova H., Kadasi L. High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL). Gen. Physiol. Biophys. 2003, 22(4):549-556.
-
(2003)
Gen. Physiol. Biophys.
, vol.22
, Issue.4
, pp. 549-556
-
-
Minarik, G.1
Ferak, V.2
Ferakova, E.3
Ficek, A.4
Polakova, H.5
Kadasi, L.6
-
21
-
-
0037209154
-
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10
-
Zoll B., Petersen L., Lange K., Gabriel P., Kiese-Himmel C., Rausch P., et al. Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10. Hum. Mutat. 2003, 21(1):98.
-
(2003)
Hum. Mutat.
, vol.21
, Issue.1
, pp. 98
-
-
Zoll, B.1
Petersen, L.2
Lange, K.3
Gabriel, P.4
Kiese-Himmel, C.5
Rausch, P.6
-
22
-
-
0035081564
-
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
-
Loffler J., Nekahm D., Hirst-Stadlmann A., Gunther B., Menzel H.J., Utermann G., et al. Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. Eur. J. Hum. Genet. 2001, 9(3):226-230.
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, Issue.3
, pp. 226-230
-
-
Loffler, J.1
Nekahm, D.2
Hirst-Stadlmann, A.3
Gunther, B.4
Menzel, H.J.5
Utermann, G.6
-
23
-
-
77549085276
-
Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania
-
Lazar C., Popp R., Trifa A., Mocanu C., Mihut G., Al-Khzouz C., et al. Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania. Int. J. Pediatr. Otorhinolaryngol. 2010, 74(4):351-355.
-
(2010)
Int. J. Pediatr. Otorhinolaryngol.
, vol.74
, Issue.4
, pp. 351-355
-
-
Lazar, C.1
Popp, R.2
Trifa, A.3
Mocanu, C.4
Mihut, G.5
Al-Khzouz, C.6
-
24
-
-
4344627625
-
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness
-
Seeman P., Malikova M., Raskova D., Bendova O., Groh D., Kubalkova M., et al. Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. Clin. Genet. 2004, 66(2):152-157.
-
(2004)
Clin. Genet.
, vol.66
, Issue.2
, pp. 152-157
-
-
Seeman, P.1
Malikova, M.2
Raskova, D.3
Bendova, O.4
Groh, D.5
Kubalkova, M.6
-
25
-
-
77955550568
-
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia
-
Teek R., Kruustuk K., Zordania R., Joost K., Reimand T., Mols T., et al. Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia. Int. J. Pediatr. Otorhinolaryngol. 2010, 74(9):1007-1012.
-
(2010)
Int. J. Pediatr. Otorhinolaryngol.
, vol.74
, Issue.9
, pp. 1007-1012
-
-
Teek, R.1
Kruustuk, K.2
Zordania, R.3
Joost, K.4
Reimand, T.5
Mols, T.6
-
26
-
-
0033399961
-
Molecular genetics applied to clinical practice: the Cx26 hearing impairment
-
Orzan E., Polli R., Martella M., Vinanzi C., Leonardi M., Murgia A. Molecular genetics applied to clinical practice: the Cx26 hearing impairment. Br. J. Audiol. 1999, 33(5):291-295.
-
(1999)
Br. J. Audiol.
, vol.33
, Issue.5
, pp. 291-295
-
-
Orzan, E.1
Polli, R.2
Martella, M.3
Vinanzi, C.4
Leonardi, M.5
Murgia, A.6
-
27
-
-
0032727332
-
Cx26 deafness: mutation analysis and clinical variability
-
Murgia A., Orzan E., Polli R., Martella M., Vinanzi C., Leonardi E., et al. Cx26 deafness: mutation analysis and clinical variability. J. Med. Genet. 1999, 36(11):829-832.
-
(1999)
J. Med. Genet.
, vol.36
, Issue.11
, pp. 829-832
-
-
Murgia, A.1
Orzan, E.2
Polli, R.3
Martella, M.4
Vinanzi, C.5
Leonardi, E.6
-
28
-
-
11144357197
-
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene
-
Feldmann D., Denoyelle F., Loundon N., Weil D., Garabedian E.N., Couderc R., et al. Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene. Eur. J. Hum. Genet. 2004, 12(4):279-284.
-
(2004)
Eur. J. Hum. Genet.
, vol.12
, Issue.4
, pp. 279-284
-
-
Feldmann, D.1
Denoyelle, F.2
Loundon, N.3
Weil, D.4
Garabedian, E.N.5
Couderc, R.6
-
29
-
-
33747880802
-
Pathogenetic role of the deafness-related M34T mutation of Cx26
-
Bicego M., Beltramello M., Melchionda S., Carella M., Piazza V., Zelante L., et al. Pathogenetic role of the deafness-related M34T mutation of Cx26. Hum. Mol. Genet. 2006, 15(17):2569-2587.
-
(2006)
Hum. Mol. Genet.
, vol.15
, Issue.17
, pp. 2569-2587
-
-
Bicego, M.1
Beltramello, M.2
Melchionda, S.3
Carella, M.4
Piazza, V.5
Zelante, L.6
-
30
-
-
35848958382
-
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance
-
Pollak A., Skorka A., Mueller-Malesinska M., Kostrzewa G., Kisiel B., Waligora J., et al. M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. Am. J. Med. Genet. A 2007, 143A(21):2534-2543.
-
(2007)
Am. J. Med. Genet. A
, vol.143 A
, Issue.21
, pp. 2534-2543
-
-
Pollak, A.1
Skorka, A.2
Mueller-Malesinska, M.3
Kostrzewa, G.4
Kisiel, B.5
Waligora, J.6
-
31
-
-
33750603199
-
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls
-
Tang H.Y., Fang P., Ward P.A., Schmitt E., Darilek S., Manolidis S., et al. DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am. J. Med. Genet. A 2006, 140(22):2401-2415.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, Issue.22
, pp. 2401-2415
-
-
Tang, H.Y.1
Fang, P.2
Ward, P.A.3
Schmitt, E.4
Darilek, S.5
Manolidis, S.6
-
32
-
-
21244432046
-
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients
-
Marlin S., Feldmann D., Blons H., Loundon N., Rouillon I., Albert S., 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(6):481-487.
-
(2005)
Arch. Otolaryngol. Head Neck Surg.
, vol.131
, Issue.6
, pp. 481-487
-
-
Marlin, S.1
Feldmann, D.2
Blons, H.3
Loundon, N.4
Rouillon, I.5
Albert, S.6
-
33
-
-
36348942860
-
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter
-
Matos T.D., Caria H., Simoes-Teixeira H., Aasen T., Nickel R., Jagger D.J., et al. A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. J. Med. Genet. 2007, 44(11):721-725.
-
(2007)
J. Med. Genet.
, vol.44
, Issue.11
, pp. 721-725
-
-
Matos, T.D.1
Caria, H.2
Simoes-Teixeira, H.3
Aasen, T.4
Nickel, R.5
Jagger, D.J.6
-
34
-
-
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., 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. 2005, 69(Pt. 1):9-14.
-
(2005)
Ann. Hum. Genet.
, vol.69
, Issue.PART. 1
, pp. 9-14
-
-
Seeman, P.1
Bendova, O.2
Raskova, D.3
Malikova, M.4
Groh, D.5
Kabelka, Z.6
-
35
-
-
0347951342
-
The effect of GJB2 allele variants on performance after cochlear implantation
-
Bauer P.W., Geers A.E., Brenner C., Moog J.S., Smith R.J. The effect of GJB2 allele variants on performance after cochlear implantation. Laryngoscope 2003, 113(12):2135-2140.
-
(2003)
Laryngoscope
, vol.113
, Issue.12
, pp. 2135-2140
-
-
Bauer, P.W.1
Geers, A.E.2
Brenner, C.3
Moog, J.S.4
Smith, R.J.5
-
36
-
-
8544223611
-
Connexin 26 (GJB2) gene-related deafness and speech intelligibility after cochlear implantation
-
Sinnathuray A.R., Toner J.G., Clarke-Lyttle J., Geddis A., Patterson C.C., Hughes A.E. Connexin 26 (GJB2) gene-related deafness and speech intelligibility after cochlear implantation. Otol. Neurotol. 2004, 25(6):935-942.
-
(2004)
Otol. Neurotol.
, vol.25
, Issue.6
, pp. 935-942
-
-
Sinnathuray, A.R.1
Toner, J.G.2
Clarke-Lyttle, J.3
Geddis, A.4
Patterson, C.C.5
Hughes, A.E.6
|