-
2
-
-
0026663506
-
Genetic deafness
-
Reardon W. Genetic deafness. J Med Genet. 1992; 29: 521 - 526.
-
(1992)
J Med Genet.
, vol.29
, pp. 521-526
-
-
Reardon, W.1
-
3
-
-
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
-
4
-
-
0003853004
-
Hereditary hearing loss homepage
-
Available from: URL
-
van Camp G, Smith RJH. Hereditary hearing loss homepage. Available from: URL: http://www.uia.ac.be/dnalab/hhh, 2001.
-
(2001)
-
-
van Camp, G.1
Smith, R.J.H.2
-
5
-
-
0031923638
-
Passage to India: The search for genes causing autosomal recessive nonsyndromic hearing loss
-
Zbar RI, Ramesh A, Srisailapathy CR, Fukushima K, Wayne S, Smith RJ. Passage to India: the search for genes causing autosomal recessive nonsyndromic hearing loss. Otolaryngol Head Neck Surg. 1998; 118: 333 - 337.
-
(1998)
Otolaryngol. Head Neck Surg.
, vol.118
, pp. 333-337
-
-
Zbar, R.I.1
Ramesh, A.2
Srisailapathy, C.R.3
Fukushima, K.4
Wayne, S.5
Smith, R.J.6
-
6
-
-
0032969992
-
Genomics and hearing impairment
-
Keats BJ, Berlin CI. Genomics and hearing impairment. Genome Res. 1999; 9: 7 - 16.
-
(1999)
Genome Res.
, vol.9
, pp. 7-16
-
-
Keats, B.J.1
Berlin, C.I.2
-
7
-
-
0029166965
-
The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population
-
Maw MA, Allen-Powell DR, Goodey RJ, et al. The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. Am J Hum Genet. 1995; 57: 629 - 635.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 629-635
-
-
Maw, M.A.1
Allen-Powell, D.R.2
Goodey, R.J.3
-
8
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
-
Morell RJ, Kim HJ, Hood LJ, 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
-
9
-
-
0035375301
-
Mutations in the connexin26/GJB2 gene are the most common event in nonsyndromic hearing loss among the German population
-
Gabriel H, Kupsch P, Sudendey J, Winterhager E, Jahnke K, Lautermann J. Mutations in the connexin26/GJB2 gene are the most common event in nonsyndromic hearing loss among the German population. Hum Mutat. 2001; 17: 521 - 522.
-
(2001)
Hum. Mutat.
, vol.17
, pp. 521-522
-
-
Gabriel, H.1
Kupsch, P.2
Sudendey, J.3
Winterhager, E.4
Jahnke, K.5
Lautermann, J.6
-
10
-
-
12644276408
-
Linkage of DFNB1 to nonsyndromic neurosensory autosomal recessive deafness in Mediterranean families
-
Gasparini P, Estivill X, Volpini V, et al. Linkage of DFNB1 to nonsyndromic neurosensory autosomal recessive deafness in Mediterranean families. Eur J Hum Genet. 1997; 5: 83 - 88.
-
(1997)
Eur. J. Hum. Genet.
, vol.5
, pp. 83-88
-
-
Gasparini, P.1
Estivill, X.2
Volpini, V.3
-
11
-
-
0031007349
-
Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary nonsyndromic 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
-
12
-
-
0033812813
-
Connexin 26 mutations associated with nonsyndromic hearing loss
-
Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin 26 mutations associated with nonsyndromic hearing loss. Laryngoscope. 2000; 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
-
13
-
-
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, Govea N. Connexin 26 mutations associated with the most common form of nonsyndromic 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
-
14
-
-
0032715880
-
Developmental expression patterns of connexin 26 and 30 in the rat cochlea
-
Lautermann J, Frank HG, Jahnke K, Traub O, Winterhager E. Developmental expression patterns of connexin 26 and 30 in the rat cochlea. Dev Genet. 1999; 25: 306 - 311.
-
(1999)
Dev. Genet.
, vol.25
, pp. 306-311
-
-
Lautermann, J.1
Frank, H.G.2
Jahnke, K.3
Traub, O.4
Winterhager, E.5
-
15
-
-
0037165262
-
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
-
del Castillo I, Villamar M, Moreno-Pelayo MA, 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
-
16
-
-
0036580878
-
GJB2 mutations in Iranian with autosomal recessive nonsyndromic sensorineural hearing loss
-
Najmabadi H, Cucci RA, Sahebjam S, et al. GJB2 mutations in Iranian with autosomal recessive nonsyndromic sensorineural hearing loss. Hum Mutat. 2002; 19: 572.
-
(2002)
Hum. Mutat.
, vol.19
, pp. 572
-
-
Najmabadi, H.1
Cucci, R.A.2
Sahebjam, S.3
-
17
-
-
7144228618
-
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
-
Scott DA, Kfart ML, Carmi R, 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
Kfart, M.L.2
Carmi, R.3
-
18
-
-
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 RJH. 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.H.6
-
19
-
-
0035663441
-
Mutations in GJA1 (connexin 43) are associated with nonsyndromic autosomal recessive deafness
-
Liu XZ, Xia XJ, Adams J, et al. Mutations in GJA1 (connexin 43) are associated with nonsyndromic autosomal recessive deafness. Hum Mol Genet. 2001; 25: 2945 - 2951.
-
(2001)
Hum. Mol. Genet.
, vol.25
, pp. 2945-2951
-
-
Liu, X.Z.1
Xia, X.J.2
Adams, J.3
-
20
-
-
0032846415
-
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
-
Grifa A, Wagner CA, D'Ambrosio L, 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
-
21
-
-
85047699401
-
A large deletion including most of GJB6 in recessive nonsyndromic deafness: A digenic effect?
-
Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF. A large deletion including most of GJB6 in recessive nonsyndromic 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
-
22
-
-
0035513485
-
A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in nonsyndromic 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 nonsyndromic 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
-
23
-
-
4143118841
-
GJB2 and GJB6 mutations in 165 Danish patients showing nonsyndromic hearing impairment
-
Gronskov K, Larsen LA, Rendtorff ND, Parving A, Norgaard-Pedersen B, Brondum-Nielsen K. GJB2 and GJB6 mutations in 165 Danish patients showing nonsyndromic hearing impairment. Genet Test. 2004; 8: 181 - 184.
-
(2004)
Genet. Test.
, vol.8
, pp. 181-184
-
-
Gronskov, K.1
Larsen, L.A.2
Rendtorff, N.D.3
Parving, A.4
Norgaard-Pedersen, B.5
Brondum-Nielsen, K.6
-
24
-
-
9144251659
-
Prevalence and evolution of the del (GJB6-D13S1830) mutation in DFNB1 locus in hearing-impaired subjects: A multicenter study
-
Del Castillo I, Moreno-Pelayo MA, del Castillo FJ, et al. Prevalence and evolution of the del (GJB6-D13S1830) mutation in 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
-
25
-
-
0036821083
-
The prevalence of connexin 26 (GJB2) mutations in the Chinese population
-
Liu XZ, Xia XJ, Ke XM, 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
-
26
-
-
0037405984
-
Specrtrum of GJB2 mutations in Turkey comprising both Caucasian and oriental variants: Roles of parental consanguinity and assortative mating
-
Tekin M, Duman T, Bogoclu G, et al. Specrtrum of GJB2 mutations in Turkey comprising both Caucasian and oriental variants: roles of parental consanguinity and assortative mating. Hum Mutat. 2003; 21: 552 - 553.
-
(2003)
Hum. Mutat.
, vol.21
, pp. 552-553
-
-
Tekin, M.1
Duman, T.2
Bogoclu, G.3
-
27
-
-
1542757104
-
The 342-kb deletion in GJB6 is not present in patients with nonsyndromic hearing loss from Austria
-
Günther B, Steiner A, Nekahm-Heis D, et al. The 342-kb deletion in GJB6 is not present in patients with nonsyndromic hearing loss from Austria. Hum Mutat. 2003; 22: 180.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 180
-
-
Günther, B.1
Steiner, A.2
Nekahm-Heis, D.3
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