-
1
-
-
0027180952
-
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population
-
Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet 1993; 46: 486-491.
-
(1993)
Am J Med Genet
, vol.46
, pp. 486-491
-
-
Marazita, M.L.1
Ploughman, L.M.2
Rawlings, B.3
Remington, E.4
Arnos, K.S.5
Nance, W.E.6
-
3
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991; 630: 16-31.
-
(1991)
Ann N Y Acad Sci
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
4
-
-
0030946546
-
Nonsyndromic hearing impairment: Unparalleled heterogeneity
-
Van Camp G, Willems PJ, Smith RJ. Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1997; 60: 758-764.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 758-764
-
-
Van Camp, G.1
Willems, P.J.2
Smith, R.J.3
-
5
-
-
28644439243
-
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing
-
Hutchin T, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, et al. Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing. Clin Genet 2005; 68: 506-512.
-
(2005)
Clin Genet
, vol.68
, pp. 506-512
-
-
Hutchin, T.1
Coy, N.N.2
Conlon, H.3
Telford, E.4
Bromelow, K.5
Blaydon, D.6
-
6
-
-
9844245885
-
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
-
Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, et al. Connexin26 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
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
-
7
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998; 351: 394-398.
-
(1998)
Lancet
, vol.351
, pp. 394-398
-
-
Estivill, X.1
Fortina, P.2
Surrey, S.3
Rabionet, R.4
Melchionda, S.5
D'Agruma, L.6
-
8
-
-
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
-
9
-
-
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: 829-832.
-
(1999)
J Med Genet
, vol.36
, pp. 829-832
-
-
Murgia, A.1
Orzan, E.2
Polli, R.3
Martella, M.4
Vinanzi, C.5
Leonardi, E.6
-
10
-
-
0036821083
-
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
-
Liu XZ, Xia XJ, Ke XM, Ouyang XM, Du LL, Liu YH, 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.Z.1
Xia, X.J.2
Ke, X.M.3
Ouyang4
XM, D.L.5
Liu, Y.H.6
-
11
-
-
0036634619
-
Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment
-
Kupka S, Braun S, Aberle S, Haack B, Ebauer M, Zeissler U, et al. Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment. Hum Mutat 2002; 20: 77-78.
-
(2002)
Hum Mutat
, vol.20
, pp. 77-78
-
-
Kupka, S.1
Braun, S.2
Aberle, S.3
Haack, B.4
Ebauer, M.5
Zeissler, U.6
-
12
-
-
0035985057
-
Structural and functional diversity of connexin genes in the mouse and human genome
-
Willecke K, Eiberger J, Degen J, Eckardt D, Romualdi A, Guldenagel M, et al. Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem 2002; 383: 725-737.
-
(2002)
Biol Chem
, vol.383
, pp. 725-737
-
-
Willecke, K.1
Eiberger, J.2
Degen, J.3
Eckardt, D.4
Romualdi, A.5
Guldenagel, M.6
-
13
-
-
0030013202
-
Connexins, connexons, and intercellular communication
-
Goodenough DA, Goliger JA, Paul DL. Connexins, connexons, and intercellular communication. Annu Rev Biochem 1996; 65: 475-502.
-
(1996)
Annu Rev Biochem
, vol.65
, pp. 475-502
-
-
Goodenough, D.A.1
Goliger, J.A.2
Paul, D.L.3
-
14
-
-
0036106166
-
-
+ cycling and the endocochlear potential. Hear Res 2002; 165: 1-9.
-
+ cycling and the endocochlear potential. Hear Res 2002; 165: 1-9.
-
-
-
-
15
-
-
34548786265
-
Human connexin26 and connexin30 form functional heteromeric and heterotypic channels
-
Yum SW, Zhang J, Valiunas V, Kanaporis G, Brink PR, White TW, et al. Human connexin26 and connexin30 form functional heteromeric and heterotypic channels. Am J Physiol Cell Physiol 2007; 293: C1032-C1048.
-
(2007)
Am J Physiol Cell Physiol
, vol.293
-
-
Yum, S.W.1
Zhang, J.2
Valiunas, V.3
Kanaporis, G.4
Brink, P.R.5
White, T.W.6
-
16
-
-
0030028301
-
The gap junction communication channel
-
Kumar NM, Gilula NB. The gap junction communication channel. Cell 1996; 84: 381-388.
-
(1996)
Cell
, vol.84
, pp. 381-388
-
-
Kumar, N.M.1
Gilula, N.B.2
-
17
-
-
0033850250
-
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins
-
Rabionet R, Gasparini P, Estivill X. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 2000; 16: 190-202.
-
(2000)
Hum Mutat
, vol.16
, pp. 190-202
-
-
Rabionet, R.1
Gasparini, P.2
Estivill, X.3
-
18
-
-
0037165262
-
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
-
del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, et al. A deletion involving the connexin 30 gene in nonsyndromic 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
-
19
-
-
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 AF. 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
-
20
-
-
0034090681
-
High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR
-
Germer S, Holland MJ, Higuchi R. High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR. Genome Res 2000; 10: 258-266.
-
(2000)
Genome Res
, vol.10
, pp. 258-266
-
-
Germer, S.1
Holland, M.J.2
Higuchi, R.3
-
21
-
-
0345055300
-
Connexin-26 mutations in sporadic non-syndromal sensorineural deafness
-
Lench N, Houseman M, Newton V, Van Camp G, Mueller R. Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 1998; 351: 415.
-
(1998)
Lancet
, vol.351
, pp. 415
-
-
Lench, N.1
Houseman, M.2
Newton, V.3
Van Camp, G.4
Mueller, R.5
-
22
-
-
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
-
23
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
-
Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998; 339: 1500-1505.
-
(1998)
N Engl J Med
, vol.339
, pp. 1500-1505
-
-
Morell, R.J.1
Kim, H.J.2
Hood, L.J.3
Goforth, L.4
Friderici, K.5
Fisher, R.6
-
24
-
-
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: 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
-
25
-
-
0034013087
-
Prevalent connexin 26 gene (GJB2) mutations in Japanese
-
Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 2000; 37: 41-43.
-
(2000)
J Med Genet
, vol.37
, pp. 41-43
-
-
Abe, S.1
Usami, S.2
Shinkawa, H.3
Kelley, P.M.4
Kimberling, W.J.5
-
26
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, 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
Askew, J.W.4
Fowler, T.5
Smith, S.D.6
-
27
-
-
7144228618
-
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
-
Scott DA, Kraft ML, 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: 387-394.
-
(1998)
Hum Mutat
, vol.11
, pp. 387-394
-
-
Scott, D.A.1
Kraft, M.L.2
Carmi, R.3
Ramesh, A.4
Elbedour, K.5
Yairi, Y.6
-
28
-
-
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: 460.
-
(2001)
Hum Mutat
, vol.18
, pp. 460
-
-
Lerer, I.1
Sagi, M.2
Ben-Neriah, Z.3
Wang, T.4
Levi, H.5
Abeliovich, D.6
-
29
-
-
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 non-syndromic hearing impairment
-
del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, et al. 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 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
Rodriguez-Ballesteros, M.2
Alvarez, A.3
Hutchin, T.4
Leonardi, E.5
de Oliveira, C.A.6
-
30
-
-
34249052925
-
The prevalence of the 235delC GJB2 mutation in a Chinese deaf population
-
Dai P, Yu F, Han B, Yuan Y, Li Q, Wang G, et al. The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Genet Med 2007; 9: 283-289.
-
(2007)
Genet Med
, vol.9
, pp. 283-289
-
-
Dai, P.1
Yu, F.2
Han, B.3
Yuan, Y.4
Li, Q.5
Wang, G.6
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