-
1
-
-
9844252338
-
Prelingual deafness: High prevalence of 30delG mutation in the connexin 26 gene
-
Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: high prevalence of 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997;6:2173-2177.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2173-2177
-
-
Denoyelle, F.1
Weil, D.2
Maw, M.A.3
-
2
-
-
0032492217
-
Connexin-26 mutation in sporadic and inherited sensorineural deafness
-
Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutation 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
-
3
-
-
0031949442
-
Novel mutations in connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley PM, Harris DJ, Comer BC, et al. Novel mutations in 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
-
4
-
-
0027494118
-
Hearing loss
-
Nadol JB Jr. Hearing loss. N Engl J Med 1993;329:1092-1102.
-
(1993)
N Engl J Med
, vol.329
, pp. 1092-1102
-
-
Nadol J.B., Jr.1
-
5
-
-
0031439722
-
Epidemiology of permanent childhood hearing impairment in Trent Region, 1985-1993
-
Fortnum H, Davis A. Epidemiology of permanent childhood hearing impairment in Trent Region, 1985-1993. Br J Audiol 1997;31:409-446.
-
(1997)
Br J Audiol
, vol.31
, pp. 409-446
-
-
Fortnum, H.1
Davis, A.2
-
6
-
-
0032896998
-
Beginning of a molecular era in hearing and deafness
-
Robertson ND, Morton CC. Beginning of a molecular era in hearing and deafness. Clin Genet 1999;55:149-159.
-
(1999)
Clin Genet
, vol.55
, pp. 149-159
-
-
Robertson, N.D.1
Morton, C.C.2
-
7
-
-
0034753362
-
At the speed of sound: Gene discovery in the auditory system
-
Resendes BL, Williamson RE, Morton CC. At the speed of sound: gene discovery in the auditory system [review]. Am J Hum Genet 2001;69:923-935.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 923-935
-
-
Resendes, B.L.1
Williamson, R.E.2
Morton, C.C.3
-
9
-
-
0141659025
-
-
Hereditary Hearing Loss Home Page
-
Van Camp G, Smith RJ. Hereditary Hearing Loss Home Page. Available at: http://dnalab-www.uia.ac.be/dnalab/hhh/. Accessed May 12, 2003.
-
-
-
Van Camp, G.1
Smith, R.J.2
-
10
-
-
0037092599
-
Genetics, genomics and gene discovery in the auditory system
-
Morton CC. Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet 2002;11:1229-1240.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1229-1240
-
-
Morton, C.C.1
-
12
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic deafness
-
Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non-syndromic deafness. Nature 1997;387:80-83.
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
-
13
-
-
0034098926
-
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene
-
Rabionet R, Zelante L, Bigas NL, et al. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Hum Genet 2000;106:40-44.
-
(2000)
Hum Genet
, vol.106
, pp. 40-44
-
-
Rabionet, R.1
Zelante, L.2
Bigas, N.L.3
-
14
-
-
17544402026
-
High carrier frequency of the 35delG deafness mutation in European populations
-
Gasparini P, Rabionet R, Barbujani G, et al. High carrier frequency of the 35delG deafness mutation in European populations. Eur J Hum Genet 2000;8:19-23.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 19-23
-
-
Gasparini, P.1
Rabionet, R.2
Barbujani, G.3
-
15
-
-
0034876240
-
Meta-analysis of GJB2 mutation 35delG frequencies in Europe
-
Lucotte G, Mercier G. Meta-analysis of GJB2 mutation 35delG frequencies in Europe. Genet Test 2001;5:149-152.
-
(2001)
Genet Test
, vol.5
, pp. 149-152
-
-
Lucotte, G.1
Mercier, G.2
-
16
-
-
0033575109
-
Carrier rates in the Midwest United States for GJB2 mutations causing inherited deafness
-
Green GE, Scott DA, McDonald JM, et al. Carrier rates in the Midwest 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
-
17
-
-
0034013087
-
Prevalent connexin 26 gene (GJB2) mutations in Japanese
-
Abe S, Usami S, Shinkawa H, et al. 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
-
18
-
-
0034096496
-
High frequency hearing loss correlated with mutations in the GJB2 gene
-
Wilcox SA, Saunders K, Osborn AH, et al. High frequency hearing loss correlated with mutations in the GJB2 gene. Hum Genet 2000;106:399-405.
-
(2000)
Hum Genet
, vol.106
, pp. 399-405
-
-
Wilcox, S.A.1
Saunders, K.2
Osborn, A.H.3
-
19
-
-
0141436027
-
Epidemiology of childhood hearing impairments in northern Finland: Any changes in 10 years?
-
Mäki-Torkko E, Lindholm P, Väyrynen M, et al. Epidemiology of childhood hearing impairments in northern Finland: any changes in 10 years? Scand Audiol 1998;27:95-103.
-
(1998)
Scand Audiol
, vol.27
, pp. 95-103
-
-
Mäki-Torkko, E.1
Lindholm, P.2
Väyrynen, M.3
-
20
-
-
0141659024
-
-
Martini A, ed. Milano, Italy: CRS Amplifon
-
European Work Group on Genetics of Hearing Impairment. In: Martini A, ed. European Commission Directorate, Biomedical and Health Research Programme Hereditary Deafness, Epidemiology and Clinical Research (HEAR). Milano, Italy: CRS Amplifon, 1996;2:8-9.
-
(1996)
European Commission Directorate, Biomedical and Health Research Programme Hereditary Deafness, Epidemiology and Clinical Research (HEAR)
, vol.2
, pp. 8-9
-
-
-
21
-
-
0033577528
-
Clinical features of the prevalent form of childhood deafness, DFNA1, due to a connexin-26 gene defect: Implications for genetic counseling
-
Denoyelle F, Marlin S, Weil D, et al. Clinical features of the prevalent form of childhood deafness, DFNA1, due to a connexin-26 gene defect: implications for genetic counseling. Lancet 1999;353:1298-1303.
-
(1999)
Lancet
, vol.353
, pp. 1298-1303
-
-
Denoyelle, F.1
Marlin, S.2
Weil, D.3
-
22
-
-
0032539612
-
Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing
-
Körkkö J, Annunen S, Pihlajamaa T, et al. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci U S A 1998;95:1681-1685.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 1681-1685
-
-
Körkkö, J.1
Annunen, S.2
Pihlajamaa, T.3
-
24
-
-
0034884213
-
Connexin 26 gene mutations in congenitally deaf children. Pitfalls for genetic counselling
-
Marlin S, Garabedian E-N, Roger G, et al. Connexin 26 gene mutations in congenitally deaf children. Pitfalls for genetic counselling. Arch Otolaryngol Head Neck Surg 2001;127:927-933.
-
(2001)
Arch Otolaryngol Head Neck Surg
, vol.127
, pp. 927-933
-
-
Marlin, S.1
Garabedian, E.-N.2
Roger, G.3
-
25
-
-
0033597554
-
Three novel connexin 26 gene mutation in autosomal recessive non-syndromic deafness
-
Fuse Y, Doi K, Hasegawa T, et al. Three novel connexin 26 gene mutation in autosomal recessive non-syndromic deafness. Neuroreport 1999;10:1853-1857.
-
(1999)
Neuroreport
, vol.10
, pp. 1853-1857
-
-
Fuse, Y.1
Doi, K.2
Hasegawa, T.3
-
26
-
-
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, et al. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Gen 2000;106:50-57.
-
(2000)
Hum Gen
, vol.106
, pp. 50-57
-
-
Sobe, T.1
Vreugde, S.2
Shahin, H.3
-
27
-
-
0035894705
-
Dissecting a population genome for targeted screening of disease mutations
-
Pastinen T, Porola M, Ignatius J, et al. Dissecting a population genome for targeted screening of disease mutations. Hum Mol Genet 2001;10:2961-2972.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2961-2972
-
-
Pastinen, T.1
Porola, M.2
Ignatius, J.3
-
28
-
-
4244082734
-
Non-syndromal sensorineural hearing impairment (NSSNHI) due to connexin 26 mutations: Molecular and audiological findings
-
Mueller R, Nehammer A, Middleton A, et al. Non-syndromal sensorineural hearing impairment (NSSNHI) due to connexin 26 mutations: molecular and audiological findings. J Med Gen 1999;36:pS28.
-
(1999)
J Med Gen
, vol.36
-
-
Mueller, R.1
Nehammer, A.2
Middleton, A.3
-
29
-
-
0033037643
-
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
-
Cohn ES, Kelley PM, Fowler TW, et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 1999;103:546-550.
-
(1999)
Pediatrics
, vol.103
, pp. 546-550
-
-
Cohn, E.S.1
Kelley, P.M.2
Fowler, T.W.3
-
30
-
-
0034503365
-
The M34T allele variant of connexin 26
-
Cucci RA, Prasad S, Kelley PM, et al. The M34T allele variant of connexin 26. Genet Test 2000;4:335-344.
-
(2000)
Genet Test
, vol.4
, pp. 335-344
-
-
Cucci, R.A.1
Prasad, S.2
Kelley, P.M.3
-
31
-
-
0035138369
-
Genetic analysis of the connexin-26 M34T variant: Identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
-
Houseman MJ, Ellis LA, Pagnamenta A, et al. Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J Med Gen 2001;38:20-25.
-
(2001)
J Med Gen
, vol.38
, pp. 20-25
-
-
Houseman, M.J.1
Ellis, L.A.2
Pagnamenta, A.3
-
32
-
-
0034883917
-
Mutation screening for deafness: More than simply another diagnostic test
-
Smith RJ. Mutation screening for deafness: more than simply another diagnostic test. Arch Otolaryngol Head Neck Surg 2001;127:941-942.
-
(2001)
Arch Otolaryngol Head Neck Surg
, vol.127
, pp. 941-942
-
-
Smith, R.J.1
-
33
-
-
7144228618
-
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
-
Scott DA, Kraft 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
Kraft, M.L.2
Carmi, R.3
-
34
-
-
0033838433
-
Autosomal recessive nonsyndromic neurosensory deafness at DFNB11 not associated with the compound-heterozygous GJB2 (Connexin 26) genotype M34T/167delT
-
Griffith AJ, Chowdhry AA, Kurima K, et al. Autosomal recessive nonsyndromic neurosensory deafness at DFNB11 not associated with the compound-heterozygous GJB2 (Connexin 26) genotype M34T/167delT. Am J Hum Genet 2000;67:745-749.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 745-749
-
-
Griffith, A.J.1
Chowdhry, A.A.2
Kurima, K.3
-
36
-
-
0035405978
-
Genetic analysis of the connexin-26 M34T variant
-
Griffith AJ. Genetic analysis of the connexin-26 M34T variant. J Med Gen 2001;38:e24.
-
(2001)
J Med Gen
, vol.38
-
-
Griffith, A.J.1
-
37
-
-
0032869123
-
Molecular genetics of the Finnish disease heritage
-
Peltonen L, Jalanko A, Varilo T. Molecular genetics of the Finnish disease heritage. Hum Mol Genet 1999;8:1913-1923.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1913-1923
-
-
Peltonen, L.1
Jalanko, A.2
Varilo, T.3
|