-
1
-
-
0026410464
-
Genetic epidemiology of hearing impairment
-
The New York Acad Sci
-
Morton NE (1991). Genetic epidemiology of hearing impairment. In genetics of hearing impairment. The New York Acad Sci, 630: 16-31.
-
(1991)
In genetics of hearing impairment
, vol.630
, pp. 16-31
-
-
Morton, N.E.1
-
2
-
-
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
-
3
-
-
0003539147
-
Epidemiology, aethiology and genetic patterns
-
Eds, Gorlin RJ, Toriello HV, Cohen MM Jr. Oxford University Press, Oxford
-
Cohen MM Jr, Gorlin RJ (1995). Epidemiology, aethiology and genetic patterns. In: Hereditary hearing loss and its syndromes. Eds, Gorlin RJ, Toriello HV, Cohen MM Jr. Oxford University Press, Oxford, pp: 9-21.
-
(1995)
Hereditary hearing loss and its syndromes
, pp. 9-21
-
-
Cohen, M.M.1
Gorlin, R.J.2
-
4
-
-
0030946546
-
Nonsyndromic hearing impairment: Unparalleled heterogeneity
-
Van Camp Gwillems PJ, Smith RJH (1997). Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Human Genet, 60: 758-64.
-
(1997)
Am J Human Genet
, vol.60
, pp. 758-764
-
-
Van Camp Gwillems, P.J.1
Smith, R.J.H.2
-
5
-
-
0032725359
-
Genetic causes of non-syndromic hearing loss
-
Skvorak GAB, Morton CC (1999). Genetic causes of non-syndromic hearing loss. Curr Opin Pediatr, 11: 551-57.
-
(1999)
Curr Opin Pediatr
, vol.11
, pp. 551-557
-
-
Skvorak, G.A.B.1
Morton, C.C.2
-
6
-
-
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: 2211-16.
-
(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
Smith, R.J.6
-
8
-
-
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 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
-
9
-
-
0033600946
-
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
-
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.
-
(1999)
Am J Med Genet
, vol.89
, pp. 130-136
-
-
Cohn, E.S.1
Kelley, P.M.2
-
10
-
-
17544402026
-
High carrier frequency of the 35delG mutation in European populations
-
Gasparini P, Rabinonet R, Barbujani G, Melchionda S, Peterson M, Brondum-Nielsen K (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
-
12
-
-
9844252338
-
Prelingual deafness: High prevalence of 30delG mutation in the Connexin 26 gene
-
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR 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
Allen-Powell, D.R.6
-
13
-
-
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 (1998). Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet, 351: 394-98.
-
(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
-
14
-
-
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
-
15
-
-
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
-
16
-
-
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: 141-45.
-
(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
-
17
-
-
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: 1535-38.
-
(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
-
18
-
-
0035375301
-
Mutations in the Connexin 26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population
-
Gabriel H, Kupsch P, Sudendey J, Winterhager E, Jahnke K, Lautermann J (2001). Mutations in the Connexin 26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum Mut, 17: 521-22.
-
(2001)
Hum Mut
, vol.17
, pp. 521-522
-
-
Gabriel, H.1
Kupsch, P.2
Sudendey, J.3
Winterhager, E.4
Jahnke, K.5
Lautermann, J.6
-
19
-
-
25444443542
-
Deafness-associated Connexin 26 gene (GJB2) mutations in Iranian population
-
Hashemzadeh Chaleshtori M, Farhud DD, Taylor T, Hadavi V, Patton MA, Afzal AR (2002). Deafness-associated Connexin 26 gene (GJB2) mutations in Iranian population. Iranian J Publ Health, 31(3-4): 75-79.
-
(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
Patton, M.A.5
Afzal, A.R.6
-
20
-
-
0034098926
-
Molecular basis of childhood deafness resulting from mutations in the GJB2 (Connexin 26) gene
-
Rabionet R, Zelante L, Lopez-Bigas N, D’Agruma L, Melchionda S, Restagno G et al (2000). Molecular basis of childhood deafness resulting from mutations in the GJB2 (Connexin 26) gene. Hum Genet, 106: 40-44.
-
(2000)
Hum Genet
, vol.106
, pp. 40-44
-
-
Rabionet, R.1
Zelante, L.2
Lopez-Bigas, N.3
D’Agruma, L.4
Melchionda, S.5
Restagno, G.6
-
21
-
-
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, Kimberling WJ (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
Kimberling, W.J.7
-
22
-
-
9044254521
-
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175
-
Brown KA, Janjua AH, Karbani G, Parry G, Noble A, Crockford G et al (1996). Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. Human Mol Genet, 5: 169-73.
-
(1996)
Human Mol Genet
, vol.5
, pp. 169-173
-
-
Brown, K.A.1
Janjua, A.H.2
Karbani, G.3
Parry, G.4
Noble, A.5
Crockford, G.6
-
23
-
-
0035695250
-
Frequency of the 35delG mutation in the Connexin 26 gene in Turkish hearingimpared patients
-
c Munksgraad
-
Baris I, Kilinc MO, Tolun A (2001). Frequency of the 35delG mutation in the Connexin 26 gene in Turkish hearingimpared patients. Clin Genet, 60: 452-55. c Munksgraad.
-
(2001)
Clin Genet
, vol.60
, pp. 452-455
-
-
Baris, I.1
Kilinc, M.O.2
Tolun, A.3
-
24
-
-
0034892519
-
Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families
-
Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdele B, Bitner-Glindzics, M (2001). Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet, 38: 530-33.
-
(2001)
J Med Genet
, vol.38
, pp. 530-533
-
-
Rickard, S.1
Kelsell, D.P.2
Sirimana, T.3
Rajput, K.4
MacArdele, B.5
Bitner-Glindzics, M.6
-
25
-
-
0035650583
-
Absence of deafness-associated connexin-26 (GJB2) gene mutations in th Ommani population
-
Mutation in Brief #406 online
-
Simsek M, Al-Wardy N, Al-Khayat A, Shanmugakonar M, Al-Bulushi T, Al-Khabory M, Al-Mujeni S, Al-Harthi S (2001). Absence of deafness-associated connexin-26 (GJB2) gene mutations in th Ommani population. Human Mut, Mutation in Brief #406 online.
-
(2001)
Human Mut
-
-
Simsek, M.1
Al-Wardy, N.2
Al-Khayat, A.3
Shanmugakonar, M.4
Al-Bulushi, T.5
Al-Khabory, M.6
Al-Mujeni, S.7
Al-Harthi, S.8
-
26
-
-
0036524027
-
Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East
-
Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M (2002). Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet, 110: 284-9.
-
(2002)
Hum Genet
, vol.110
, pp. 284-289
-
-
Shahin, H.1
Walsh, T.2
Sobe, T.3
Lynch, E.4
King, M.C.5
Avraham, K.B.6
Kanaan, M.7
-
27
-
-
0036580878
-
JGB2 mutations in Iranian with autosomal recessive non-syndromic sensorineural hearing loss
-
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 in Brief#504
-
-
Najmabadi, H.1
Cucci, R.A.2
Sahebjam, S.3
Kouchakian, N.4
Farhadi, M.5
Kahrizi, K.6
-
28
-
-
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
-
29
-
-
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 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
, pp. 36
-
-
Mustapha, M.1
Salem, N.2
Delague, V.3
Chouery, E.4
Ghassibeh, M.5
Rai, M.6
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