-
1
-
-
0027180952
-
Genetic epidemiology studies of early-onset deafness in the U.S. school-age population
-
Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE (1993). Genetic epidemiology studies of early-onset deafness in the U.S. school-age population. Am J Med Genet, 46: 486-91.
-
(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
-
2
-
-
0032725359
-
Genetic causes of non-syndromic hearing loss
-
Review
-
Skvorak GAB, Morton CC (1999). Genetic causes of non-syndromic hearing loss. Curr Opin Pediatr, 11: 551-57. Review
-
(1999)
Curr. Opin. Pediatr.
, vol.11
, pp. 551-557
-
-
Skvorak, G.A.B.1
Morton, C.C.2
-
3
-
-
0028249690
-
A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
-
Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, et al (1994). A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet, 6:24-8.
-
(1994)
Nat. Genet.
, vol.6
, pp. 24-28
-
-
Guilford, P.1
Ben Arab, S.2
Blanchard, S.3
Levilliers, J.4
Weissenbach, J.5
Belkahia, A.6
-
4
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, et al (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
-
5
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with non-syndromic recessive deafness
-
Morell RJ, Kim HJ, Hood LJ, Goforth L, Frederici K, Fisher R, et al (1998). Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with non-syndromic recessive deafness. N Engl J Med, 339: 1500-505.
-
(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
Frederici, K.5
Fisher, R.6
-
6
-
-
0033600946
-
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
-
Review
-
Cohn ES, Kelley PM (1999). Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss. Am J Med Genet, 89: 130-36. Review
-
(1999)
Am. J. Med. Genet.
, vol.89
, pp. 130-136
-
-
Cohn, E.S.1
Kelley, P.M.2
-
7
-
-
17544402026
-
High carrier frequency of the 35delG mutation in European populations
-
Gasparini P, Rabinonet R, Barbujani G, Melchionda S, Peterson M, Brondum-Nielsen K, et al (2000). High carrier frequency of the 35delG mutation in European populations. Eur J Hum Genet, 8: 19-23.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 19-23
-
-
Gasparini, P.1
Rabinonet, R.2
Barbujani, G.3
Melchionda, S.4
Peterson, M.5
Brondum-Nielsen, K.6
-
9
-
-
0033082379
-
Ion channel defects in hereditary hearing loss
-
Holt JR and Corey DP (1999). Ion channel defects in hereditary hearing loss. Neuron, 22: 217-19.
-
(1999)
Neuron.
, vol.22
, pp. 217-219
-
-
Holt, J.R.1
Corey, D.P.2
-
10
-
-
9844252338
-
Prelingual deafness: High prevalence of 30delG mutation in the Connexin 26 gene
-
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, et al (1997). Prelingual deafness: high prevalence of 30delG mutation in the Connexin 26 gene. Human Mol Genet, 6: 2173-77.
-
(1997)
Human Mol. Genet.
, vol.6
, pp. 2173-2177
-
-
Denoyelle, F.1
Weil, D.2
Maw, M.A.3
Wilcox, S.A.4
Lench, N.J.5
-
11
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agrunia L, Mansfield E, et al (1998). Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet, 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'Agrunia, L.6
Mansfield, E.7
-
12
-
-
0033575109
-
Carrier rates in the Midwestern United States for GJB2 mutations causing inherited deafness
-
Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, et al (1999). Carrier rates in the Midwestern United States for GJB2 mutations causing inherited deafness. JAMA, 281: 2211-16.
-
(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
-
13
-
-
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
-
14
-
-
0033812813
-
Connexin 26 mutations associated with nonsyndromic hearing loss
-
Park HJ, Hahn SH, Chun YM, Park K, Kim HN (2000). Connexin 26 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
-
15
-
-
0034677194
-
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
-
Kudo T, Ikeda K, Kure S, Matsubara Y, Oshima T, Watanabe KL, et al (2000). Novel mutations in the connexin 26 gene (GJB2) 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.L.6
-
16
-
-
0033615567
-
High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim
-
Sobe T, Ehrlich P, Berry A, Korostichevsky M, Vreugede S, Avraham KB, et al (1999). High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am J Med Genet, 86: 499-500.
-
(1999)
Am. J. Med. Genet.
, vol.86
, pp. 499-500
-
-
Sobe, T.1
Ehrlich, P.2
Berry, A.3
Korostichevsky, M.4
Vreugede, S.5
Avraham, K.B.6
-
17
-
-
0032546033
-
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa
-
Brobby GW, Muller-Myhsok B, Horstmann RD (1998). Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med, 338:548-49.
-
(1998)
N. Engl. J. Med.
, vol.338
, pp. 548-549
-
-
Brobby, G.W.1
Muller-Myhsok, B.2
Horstmann, R.D.3
-
18
-
-
25444443542
-
Deafness-associated connexion 26 gene (GJB2) mutation in Iranian population
-
Hashemzadeh Chaleshtori M, Farhud DD, Taylor T, Hadavi V, Pattpn MA, Afzal AR (2002). Deafness-associated connexion 26 gene (GJB2) mutation in Iranian population. Iranian J Publ Health, 31(3-4): 75-9.
-
(2002)
Iranian J. Publ. Health.
, vol.31
, Issue.3-4
, pp. 75-79
-
-
Hashemzadeh Chaleshtori, M.1
Farhud, D.D.2
Taylor, T.3
Hadavi, V.4
Pattpn, M.A.5
Afzal, A.R.6
-
19
-
-
0031949442
-
Novel mutations in the connexin26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, et al (1998). Novel mutations in the connexin26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet, 62:792-99.
-
(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
-
20
-
-
0035489776
-
Autosomal recessive nonsyndromic hearing loss in the Lebanese population: Revalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene
-
(electronic)
-
Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, et al (2001). Autosomal recessive nonsyndromic hearing loss in the Lebanese population: revalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene J Med Genet, 38: 36e (electronic).
-
(2001)
J. Med. Genet.
, vol.38
-
-
Mustapha, M.1
Salem, N.2
Delague, V.3
Chouery, E.4
Ghassibeh, M.5
Rai, M.6
Loiselet, J.7
-
21
-
-
25444531326
-
Two novel mutations and predominant 35 delG mutation in the connexin 26 gene (GJB2) in Iranian populatins
-
Hashemzadeh Chaleshtori M, Dowlati M, Farhud DD, Hoghooghi Rad L, Sasanfar R, Hoseinipour A, et al (2004). Two novel mutations and predominant 35 delG mutation in the connexin 26 gene (GJB2) in Iranian populatins. Iranian J Publ Health, 33:14-19.
-
(2004)
Iranian J. Publ. Health
, vol.33
, pp. 14-19
-
-
Hashemzadeh Chaleshtori, M.1
Dowlati, M.2
Farhud, D.D.3
Hoghooghi Rad, L.4
Sasanfar, R.5
Hoseinipour, A.6
-
22
-
-
0036580878
-
JGB2 mutations in Iranian with autosomal recessive non-syndromic sensorineural hearing loss
-
in Brief#504 online
-
Najmabadi H, Cucci RA, Sahebjam S, Kouchakian N, Farhadi M, Kahrizi K, et al (2002). JGB2 mutations in Iranian with autosomal recessive non-syndromic sensorineural hearing loss. Human Mut, Mutation in Brief#504 online.
-
(2002)
Human Mut. Mutation
-
-
Najmabadi, H.1
Cucci, R.A.2
Sahebjam, S.3
Kouchakian, N.4
Farhadi, M.5
Kahrizi, K.6
-
23
-
-
0008796948
-
Consanguinity in Iran
-
Farhud DD, Kamali MS, Marzban M, Andonian L, Saffari R (1991). Consanguinity in Iran. Iranian J Publ Health, 20: 1-14.
-
(1991)
Iranian J. Publ. Health.
, vol.20
, pp. 1-14
-
-
Farhud, D.D.1
Kamali, M.S.2
Marzban, M.3
Andonian, L.4
Saffari, R.5
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