-
1
-
-
0035500580
-
Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A → G mitochondrial mutation
-
Abe S., Kelley P. M., Kimberling W. J. and Usami S. I. 2001 Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A → G mitochondrial mutation. Am. J. Med. Genet. 103, 334-338.
-
(2001)
Am. J. Med. Genet
, vol.103
, pp. 334-338
-
-
Abe, S.1
Kelley, P.M.2
Kimberling, W.J.3
Usami, S.I.4
-
2
-
-
0034013087
-
Prevalent connexin 26 gene (GJB2) mutations in Japanese
-
Abe S., Usami S., Shinkawa H., Kelley P. M. and Kimberling W. J. 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
-
4
-
-
10744222177
-
GJB2 gene mutations causing familial hereditary deafness in Turkey
-
Bayazit Y. A., Cable B. B., Cataloluk O., Kara C., Chamberlin P., Smith R. J. et al. 2003 GJB2 gene mutations causing familial hereditary deafness in Turkey. Int. J. Pediatr. Otorhinolaryngol. 67, 1331-1335.
-
(2003)
Int. J. Pediatr. Otorhinolaryngol
, vol.67
, pp. 1331-1335
-
-
Bayazit, Y.A.1
Cable, B.B.2
Cataloluk, O.3
Kara, C.4
Chamberlin, P.5
Smith, R.J.6
-
5
-
-
0032546033
-
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa
-
Brobby G. W., Muller-Mhysok B. and Hortsman R. D. 1998 Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N. Engl. J. Med. 338, 548-550.
-
(1998)
N. Engl. J. Med
, vol.338
, pp. 548-550
-
-
Brobby, G.W.1
Muller-Mhysok, B.2
Hortsman, R.D.3
-
6
-
-
0030696315
-
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations
-
Carrasquillo M. M., Zlotogora J., Barges S. and 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
-
7
-
-
9844252338
-
Prelingual deafness:high prevalance of a 30delG mutation in the connexin26 gene
-
Denoyelle F., Weil D., Maw M. A., Wilcox S. A., Lench N. J., Allen Powell D. R. et al. 1997 Prelingual deafness:high prevalance of a 30delG mutation in the connexin26 gene Hum. Mol. Gen. 6, 2173-2177.
-
(1997)
Hum. Mol. Gen
, 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
-
8
-
-
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, 394-398.
-
(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
-
9
-
-
0030974247
-
Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity
-
Fischel-Ghodsian N., Prezant T. R., Chaltraw W. E. et al. 1997 Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity. Am. J. Otolaryngol. 18, 173-178.
-
(1997)
Am. J. Otolaryngol
, vol.18
, pp. 173-178
-
-
Fischel-Ghodsian, N.1
Prezant, T.R.2
Chaltraw, W.E.3
-
10
-
-
0033597554
-
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
-
Fuse Y., Doi K., Hasegawa T., Sugii A., Hibino H. and Kubo T. 1999 Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport 10, 1853-1857.
-
(1999)
Neuroreport
, vol.10
, pp. 1853-1857
-
-
Fuse, Y.1
Doi, K.2
Hasegawa, T.3
Sugii, A.4
Hibino, H.5
Kubo, T.6
-
11
-
-
0035375301
-
Mutations in the connexin26/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. and Lautermann J. 2001 Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population. Hum. Mutat. 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
-
12
-
-
17544402026
-
Genetic Analysis Consortium of GJB2 35delG: High carrier frequency of the 35 delG deafness mutation in European populations
-
Gasparini P., Rabionet R., Barbujani G., Melchionda S., Petersen M., Brondum-Nielsen et al. 2000 Genetic Analysis Consortium of GJB2 35delG: High carrier frequency of the 35 delG 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
Nielsen, B.6
-
13
-
-
0035232752
-
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana
-
Hammelmann C., Amedofu G. K., Albrecht K., Muntau B., Gelhaus A., Brobby G. W. et al. 2001 Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. Hum. Mutat. 18, 84-85.
-
(2001)
Hum. Mutat
, vol.18
, pp. 84-85
-
-
Hammelmann, C.1
Amedofu, G.K.2
Albrecht, K.3
Muntau, B.4
Gelhaus, A.5
Brobby, G.W.6
-
14
-
-
0026519547
-
Sensorineural deafness inherited as a tissue specific mitochondrial defect
-
Jaber L., Shohat M., Bu X., Fischel-Ghodsian N., Yang H. Y., Wang S. J. and Rotter J. I. 1992 Sensorineural deafness inherited as a tissue specific mitochondrial defect. J. med. Genet. 29, 86-90.
-
(1992)
J. med. Genet
, vol.29
, pp. 86-90
-
-
Jaber, L.1
Shohat, M.2
Bu, X.3
Fischel-Ghodsian, N.4
Yang, H.Y.5
Wang, S.J.6
Rotter, J.I.7
-
15
-
-
18044390304
-
GJB2 mutations in Turkish patients with ARNSHL: Prevalence and two novel mutations
-
Kalay E., Caylan R., Kremer H., de Brouwer A. P. and Karaguzel A. 2005 GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations. Hear Res. 203, 88-93.
-
(2005)
Hear Res
, vol.203
, pp. 88-93
-
-
Kalay, E.1
Caylan, R.2
Kremer, H.3
de Brouwer, A.P.4
Karaguzel, A.5
-
16
-
-
0031949442
-
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss
-
Kelley P. M., Harris D. J., Comer B. C., Askew J. W., Fowler T., Smith S. D. et al. 1998 Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am. J. Hum. Genet. 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
Askew, J.W.4
Fowler, T.5
Smith, S.D.6
-
17
-
-
0032935303
-
Cracking the auditory genetic code: Nonsyndromic hereditory hearing impairments
-
Lalwani A. K. and Castelein C. M. 1999 Cracking the auditory genetic code: Nonsyndromic hereditory hearing impairments. Am. J. Otoloringologiya. 20, 115-132.
-
(1999)
Am. J. Otoloringologiya
, vol.20
, pp. 115-132
-
-
Lalwani, A.K.1
Castelein, C.M.2
-
18
-
-
0345055300
-
Connexin-26 mutations in sporadic non-syndromal sensorineural deafness
-
Lench N., Huoseman M., Newton V., Van Camp G. and Mueller R. 1998 Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 351, 415.
-
(1998)
Lancet
, vol.351
, pp. 415
-
-
Lench, N.1
Huoseman, M.2
Newton, V.3
Van Camp, G.4
Mueller, R.5
-
19
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
-
Morell R. J., Kim H. J., Hood L. J., Goforth L., Friderici K., Fisher R., et al. 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
-
20
-
-
0033362169
-
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia
-
Pandya A., Xia X. J., Erdenetungalag R., Amendola M., Landa B., Radnaabazar J. et al. 1999 Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Am. J. Hum. Genet. 65, 1803-1806.
-
(1999)
Am. J. Hum. Genet
, vol.65
, pp. 1803-1806
-
-
Pandya, A.1
Xia, X.J.2
Erdenetungalag, R.3
Amendola, M.4
Landa, B.5
Radnaabazar, J.6
-
21
-
-
0034098926
-
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin26) gene
-
Rabionet R., Zelante L., Lopez-Bigas N., D'Aruma L., Melchionda S. et al. 2000 Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin26) gene. Hum. Genet. 1, 40-44.
-
(2000)
Hum. Genet
, vol.1
, pp. 40-44
-
-
Rabionet, R.1
Zelante, L.2
Lopez-Bigas, N.3
D'Aruma, L.4
Melchionda, S.5
-
22
-
-
0031933645
-
Connexin mutations and hearing loss
-
Scott D. A., Kraft M. L., Stone E. M., Sheffield V. C. and Smith R. J. 1998 Connexin mutations and hearing loss. Nature 391, 32.
-
(1998)
Nature
, vol.391
, pp. 32
-
-
Scott, D.A.1
Kraft, M.L.2
Stone, E.M.3
Sheffield, V.C.4
Smith, R.J.5
-
23
-
-
0035000818
-
Connexin 26 (GJB2) mutations in the Turkish population: Implications for the origin and high frequency of the 35delG mutation in Caucasians
-
Tekin M., Akar N., Cin S., Blanton S. H., Xia X. J., Liu X. Z. et al. 2001 Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians. Hum. Genet. 108, 385-389.
-
(2001)
Hum. Genet
, vol.108
, pp. 385-389
-
-
Tekin, M.1
Akar, N.2
Cin, S.3
Blanton, S.H.4
Xia, X.J.5
Liu, X.Z.6
-
24
-
-
0037405984
-
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative mating
-
Tekin M., Duman T., Bogoclu G., Incesulu A., Comak E., Ilhan I. and Akar N. 2003a Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating. Hum. Mutat. 21, 552-3.
-
(2003)
Hum. Mutat
, vol.21
, pp. 552-553
-
-
Tekin, M.1
Duman, T.2
Bogoclu, G.3
Incesulu, A.4
Comak, E.5
Ilhan, I.6
Akar, N.7
-
25
-
-
0037340257
-
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey
-
Tekin M., Duman T., Bogoclu G., Incesulu A., Comak E., Fitoz S. et al. 2003b Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur. J. Pediatr. 162, 154-158.
-
(2003)
Eur. J. Pediatr
, vol.162
, pp. 154-158
-
-
Tekin, M.1
Duman, T.2
Bogoclu, G.3
Incesulu, A.4
Comak, E.5
Fitoz, S.6
-
26
-
-
12744260257
-
Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia
-
Tekin M., Bogoclu G., Arican S. T., Orman M. N., Tastan H., Elsobky E. et al. 2005 Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia. Clin. Genet. 67, 31-37.
-
(2005)
Clin. Genet
, vol.67
, pp. 31-37
-
-
Tekin, M.1
Bogoclu, G.2
Arican, S.T.3
Orman, M.N.4
Tastan, H.5
Elsobky, E.6
-
27
-
-
85047676235
-
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa
-
Topol E. J., Califf R. M., Wilcox R. et al. 1998 Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N. Engl. J. Med. 338, 546-547.
-
(1998)
N. Engl. J. Med
, vol.338
, pp. 546-547
-
-
Topol, E.J.1
Califf, R.M.2
Wilcox, R.3
-
28
-
-
0034054301
-
Prevalence of mitochondrial gene mutations among hearing impaired patients
-
Usami S., Abe S., Akita J., Namba A., Shinkawa H., Ishii M. et al. 2000 Prevalence of mitochondrial gene mutations among hearing impaired patients. J. Med. Genet. 37, 38-40.
-
(2000)
J. Med. Genet
, vol.37
, pp. 38-40
-
-
Usami, S.1
Abe, S.2
Akita, J.3
Namba, A.4
Shinkawa, H.5
Ishii, M.6
-
29
-
-
0043133524
-
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal- recessive non-syndromic hearing loss
-
Uyguner O., Emiroglu M., Uzumcu A., Hafiz G., Ghanbari A., Baserer N. et al. 2003 Frequencies of gap- and tight-junction mutations in Turkish families with autosomal- recessive non-syndromic hearing loss. Clin. Genet. 64, 65-69.
-
(2003)
Clin. Genet
, vol.64
, pp. 65-69
-
-
Uyguner, O.1
Emiroglu, M.2
Uzumcu, A.3
Hafiz, G.4
Ghanbari, A.5
Baserer, N.6
-
30
-
-
9844245885
-
Connexin 26 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. et al. 1997 Connexin 26 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
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