-
1
-
-
0034013087
-
Prevalent connexin 26 gene (GJB2) mutations in Japanese
-
Abe S, Usami S, Shinkawa H, Kelley PM, Kimberling WJ (2000) Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet 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
-
2
-
-
0030696315
-
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations
-
Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A (1997) Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations. Hum Mol Genet 6: 2163-2172
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2163-2172
-
-
Carrasquillo, M.M.1
Zlotogora, J.2
Barges, S.3
Chakravarti, A.4
-
3
-
-
0037165262
-
A deletion involving the connexin 30 gene in nonsyndromc hearing impairment
-
Castillo del I, Villamar M, Moreno-Pelayo MA, Castillo FJ del, Alvarez A, Telleria D, Menendez I, Moreno F (2002) A deletion involving the connexin 30 gene in nonsyndromc hearing impairment. N Engl J Med 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
Menendez, I.7
Moreno, F.8
-
4
-
-
0033597554
-
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
-
Fuse Y, Doi K, Hasegawa T, Sugii A, Hibino H, Kubo T (1999) Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport 23:1853-1857
-
(1999)
Neuroreport
, vol.23
, pp. 1853-1857
-
-
Fuse, Y.1
Doi, K.2
Hasegawa, T.3
Sugii, A.4
Hibino, H.5
Kubo, T.6
-
5
-
-
17544402026
-
High carrier frequency of the 35delG deafness mutation in European populations
-
Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X (2000) High carrier frequency of the 35delG deafness mutation in European populations. Eur J Hum Genet 8:19-23
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 19-23
-
-
Gasparini, P.1
Rabionet, R.2
Barbujani, G.3
Melchionda, S.4
Petersen, M.5
Brondum-Nielsen, K.6
Metspalu, A.7
Oitmaa, E.8
Pisano, M.9
Fortina, P.10
Zelante, L.11
Estivill, X.12
-
7
-
-
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 (1999) Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 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
-
8
-
-
0032846415
-
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
-
Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P (1999) Mutationsin GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 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
Rabionet, R.7
Arbones, M.8
Monica, M.D.9
Estivill, X.10
Zelante, L.11
Lang, F.12
Gasparini, P.13
-
9
-
-
0035138369
-
Genetic Analysis of the conexin-26 M34T variant: Identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
-
Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF, Kelsell DP (2001) Genetic Analysis of the conexin-26 M34T variant: Identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J Med Genet 38:20-25
-
(2001)
J Med Genet
, vol.38
, pp. 20-25
-
-
Houseman, M.J.1
Ellis, L.A.2
Pagnamenta, A.3
Di, W.L.4
Rickard, S.5
Osborn, A.H.6
Dahl, H.H.7
Taylor, G.R.8
Bitner-Glindzicz, M.9
Reardon, W.10
Mueller, R.F.11
Kelsell, D.P.12
-
10
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 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
Mueller, R.F.7
Leigh, I.M.8
-
11
-
-
0034677194
-
Novel mutations in the connexin 26 gene responsible for childhood deafness in the Japanese population
-
Kudo T, Ikeda K, Kure S, Matsubara Y, Oshima T, Watanabe K, Kawase T, Narisawa K, Takasaka T (2000) Novel mutations in the connexin 26 gene responsible for childhood deafness in the Japanese population. Am J Med Genet 90:141-145
-
(2000)
Am J Med Genet
, vol.90
, pp. 141-145
-
-
Kudo, T.1
Ikeda, K.2
Kure, S.3
Matsubara, Y.4
Oshima, T.5
Watanabe, K.6
Kawase, T.7
Narisawa, K.8
Takasaka, T.9
-
12
-
-
0035180818
-
GJB2 (connexin 26) mutations and childhood deafness in Thailand
-
Kudo T, Ikeda K, Oshima T, Kure S, Tammasaeng M, Prasansuk S, Matsubara Y (2001) GJB2 (connexin 26) mutations and childhood deafness in Thailand. Otol Neurotol 22:858-861
-
(2001)
Otol Neurotol
, vol.22
, pp. 858-861
-
-
Kudo, T.1
Ikeda, K.2
Oshima, T.3
Kure, S.4
Tammasaeng, M.5
Prasansuk, S.6
Matsubara, Y.7
-
13
-
-
0028227613
-
Non-syndromic hearing loss: An analysis of audiogram
-
Liu XZ, Xu LR (1994) Non-syndromic hearing loss: An analysis of audiogram. Ann Otol Rhinol Laryngol 10:428-432
-
(1994)
Ann Otol Rhinol Laryngol
, vol.10
, pp. 428-432
-
-
Liu, X.Z.1
Xu, L.R.2
-
14
-
-
0034018259
-
Mutations in connexin 31 underlie recessive as well as dominant non-syndromic hearing loss
-
Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE (2000) Mutations in connexin 31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet 9:63-67
-
(2000)
Hum Mol Genet
, vol.9
, pp. 63-67
-
-
Liu, 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
-
15
-
-
0035053258
-
Epidemiological studies on hearing impairment with reference to genetic factors in Sichuan, China
-
Liu XZ, Xu LR, Hu Y, Nance WE, Sismanis A, Zhang SL, Xu Y (2001a) Epidemiological studies on hearing impairment with reference to genetic factors in Sichuan, China. Ann Otol Rhinol Laryngol 110:356-363
-
(2001)
Ann Otol Rhinol Laryngol
, vol.110
, pp. 356-363
-
-
Liu, X.Z.1
Xu, L.R.2
Hu, Y.3
Nance, W.E.4
Sismanis, A.5
Zhang, S.L.6
Xu, Y.7
-
16
-
-
0035663441
-
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness
-
Liu XZ, Xia XJ, Joe Adams, Chen ZY, Welch KO, Tekin M, Ouyang XM, Kristiansen A, Pandya A, Balkany T, Arnos KS, Nance WE (2001b) Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet 25:2945-2951
-
(2001)
Hum Mol Genet
, vol.25
, pp. 2945-2951
-
-
Liu, X.Z.1
Xia, X.J.2
Joe, A.3
Chen, Z.Y.4
Welch, K.O.5
Tekin, M.6
Ouyang, X.M.7
Kristiansen, A.8
Pandya, A.9
Balkany, T.10
Arnos, K.S.11
Nance, W.E.12
-
18
-
-
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, Van Camp G, Berlin CI, Oddoux C, Oster H, Keats B, Friedman TB (1998) Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 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
Van Camp, G.7
Berlin, C.I.8
Oddoux, C.9
Oster, H.10
Keats, B.11
Friedman, T.B.12
-
19
-
-
0033812813
-
Connexin26 mutations associated with nonsyndromic hearing loss
-
Park HJ, Hahn SH, Chun YM, Park K, Kim HN (2000) Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 110:1535-1538
-
(2000)
Laryngoscope
, vol.110
, pp. 1535-1538
-
-
Park, H.J.1
Hahn, S.H.2
Chun, Y.M.3
Park, K.4
Kim, H.N.5
-
20
-
-
0034019466
-
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
-
Sobe T, Vreugde S, Shahin H, Berlin M, Davis N, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, Avraham KB (2000) The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet 106:50-57
-
(2000)
Hum Genet
, vol.106
, pp. 50-57
-
-
Sobe, T.1
Vreugde, S.2
Shahin, H.3
Berlin, M.4
Davis, N.5
Kanaan, M.6
Yaron, Y.7
Orr-Urtreger, A.8
Frydman, M.9
Shohat, M.10
Avraham, K.B.11
-
21
-
-
17344373747
-
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
-
Xia JH, Liu CY, Tang BS, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ (1998) Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 20:370-373
-
(1998)
Nat Genet
, vol.20
, pp. 370-373
-
-
Xia, J.H.1
Liu, C.Y.2
Tang, B.S.3
Tang, B.S.4
Pan, Q.5
Huang, L.6
Dai, H.P.7
Zhang, B.R.8
Xie, W.9
Hu, D.X.10
Zheng, D.11
Shi, X.L.12
Wang, D.A.13
Xia, K.14
Yu, K.P.15
Liao, X.D.16
Feng, Y.17
Yang, Y.F.18
Xiao, J.Y.19
Xie, D.H.20
Huang, J.Z.21
more..
-
22
-
-
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, Mila M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P (1997) Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 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
Mila, M.7
Monica, M.D.8
Lutfi, J.9
Shohat, M.10
Mansfield, E.11
Delgrosso, K.12
Rappaport, E.13
Surrey, S.14
Fortina, P.15
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