-
1
-
-
0029974655
-
Connections with connexins: The molecular basis of direct intercellular signaling
-
Bruzzone, R., White, T. W., & Paul, D. L. (1996). Connections with connexins: The molecular basis of direct intercellular signaling. European Journal of Biochemistry, 238(1), 1-27.
-
(1996)
European Journal of Biochemistry
, vol.238
, Issue.1
, pp. 1-27
-
-
Bruzzone, R.1
White, T.W.2
Paul, D.L.3
-
2
-
-
0000148999
-
A note on deaf mutism
-
Chung, C. S., Robison, O. W., & Morton, N. E. (1959). A note on deaf mutism. Annals of Human Genetics, 23, 357-366.
-
(1959)
Annals of Human Genetics
, vol.23
, pp. 357-366
-
-
Chung, C.S.1
Robison, O.W.2
Morton, N.E.3
-
3
-
-
0001639812
-
Epidemiology, etiology, and genetic patterns
-
R. J. Gorlin, H. V. Toriello, & M. M. Cohen (Eds.), Oxford: Oxford University Press
-
Cohen, M. M., & Gorlin, R. J. (1995). Epidemiology, etiology, and genetic patterns. In R. J. Gorlin, H. V. Toriello, & M. M. Cohen (Eds.), Hereditary hearing loss and its syndromes (pp. 9-21). Oxford: Oxford University Press.
-
(1995)
Hereditary Hearing Loss and Its Syndromes
, pp. 9-21
-
-
Cohen, M.M.1
Gorlin, R.J.2
-
4
-
-
0033037643
-
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene
-
Cohn, E. S., Kelley, P. M., Fowler, T. W., Gorga, M. P., Lefkowitz, D. M., Kuehn, H. J., Schaefer, G. B., Gobar, L. S., Hahn, F. J., Harris, D. J., & Kimberling, W. J. (1999). Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene. Pediatrics, 103(3), 546-550.
-
(1999)
Pediatrics
, vol.103
, Issue.3
, pp. 546-550
-
-
Cohn, E.S.1
Kelley, P.M.2
Fowler, T.W.3
Gorga, M.P.4
Lefkowitz, D.M.5
Kuehn, H.J.6
Schaefer, G.B.7
Gobar, L.S.8
Hahn, F.J.9
Harris, D.J.10
Kimberling, W.J.11
-
5
-
-
0032575085
-
Connexin 26 gene linked to a dominant deafness
-
Denoyelle, F., Lina-Granade, G., Plauchu, H., Bruzzone, R., Chaib, H., Levi-Acobas, F., Weil, D., & Petit, C. (1998). Connexin 26 gene linked to a dominant deafness. Nature, 393, 319-320.
-
(1998)
Nature
, vol.393
, pp. 319-320
-
-
Denoyelle, F.1
Lina-Granade, G.2
Plauchu, H.3
Bruzzone, R.4
Chaib, H.5
Levi-Acobas, F.6
Weil, D.7
Petit, C.8
-
6
-
-
9844252338
-
Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
-
Denoyelle, F., Weil, D., Maw, M. A., Wilcox, S. A., Lench, N. J., Allen-Powell, D. R., Osborn, A. H., Dahl, H. H., Middleton, A., Houseman, M. J., Dode, C., Marlin, S., Boulila-El Gaied, A., Grati, M., Ayadi, H., Ben Arab, S., Bitoun, P., Lina-Granade, G., Godet, J., Mustapha, M., Loiselet, J., El-Zir, E., Aubois, A., Joannard, A., Petit, C., et al. (1997). Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Human Molecular Genetics, 6(12), 2173-2177.
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.12
, 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
Osborn, A.H.7
Dahl, H.H.8
Middleton, A.9
Houseman, M.J.10
Dode, C.11
Marlin, S.12
Boulila-El Gaied, A.13
Grati, M.14
Ayadi, H.15
Ben Arab, S.16
Bitoun, P.17
Lina-Granade, G.18
Godet, J.19
Mustapha, M.20
Loiselet, J.21
El-Zir, E.22
Aubois, A.23
Joannard, A.24
Petit, C.25
more..
-
7
-
-
0032492217
-
Connexin-26 mutations in sporadic and inherited sensorineural deafness
-
Estivill, X., Fortina, P., Surrey, S., Rabionet, R., Melchionda, S., D'Agruma, L., Mansfield, E., Rappaport, E., Govea, N., Mila, M., Zelante, L., & Gasparini, P. (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
Mansfield, E.7
Rappaport, E.8
Govea, N.9
Mila, M.10
Zelante, L.11
Gasparini, P.12
-
8
-
-
0031917201
-
Mitochondrial mutations and hearing loss: Paradigm for mitochondrial genetics
-
Fischel-Ghodsian, N. (1998). Mitochondrial mutations and hearing loss: Paradigm for mitochondrial genetics. American Journal of Human Genetics, 62(1), 15-19.
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.1
, pp. 15-19
-
-
Fischel-Ghodsian, N.1
-
10
-
-
0033575109
-
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
-
Green, G. E., Scott, D. A., McDonald, J. M., Woodworth, G. G., Sheffield, V. C., & Smith, R. J. (1999). Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. Journal of the American Medical Association, 281(23), 2211-2216.
-
(1999)
Journal of the American Medical Association
, vol.281
, Issue.23
, 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
-
11
-
-
0028249690
-
A non-syndromic 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., & Petit, C. (1994). A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genetics, 6(1), 24-28.
-
(1994)
Nature Genetics
, vol.6
, Issue.1
, pp. 24-28
-
-
Guilford, P.1
Ben Arab, S.2
Blanchard, S.3
Levilliers, J.4
Weissenbach, J.5
Belkahia, A.6
Petit, C.7
-
12
-
-
0023247247
-
Prevalence and genetic aspects of deaf mutism in Shanghai
-
Hu, D. N., Qiu, W. Q., Wu, B. T., Fang, L. Z., Zhou, F., Gu, Y. P., Zhang, Q. H., & Yan, J. H. (1987). Prevalence and genetic aspects of deaf mutism in Shanghai. Journal of Medical Genetics, 24, 589-592.
-
(1987)
Journal of Medical Genetics
, vol.24
, pp. 589-592
-
-
Hu, D.N.1
Qiu, W.Q.2
Wu, B.T.3
Fang, L.Z.4
Zhou, F.5
Gu, Y.P.6
Zhang, Q.H.7
Yan, J.H.8
-
13
-
-
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., & Kimberling, W. J. (1998). Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. American Journal of Human Genetics, 62(4), 792-799.
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.4
, 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
-
14
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., & Leigh, I. M. (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
Mueller, R.F.7
Leigh, I.M.8
-
15
-
-
0028053443
-
Gap junction systems in the rat vestibular labyrinth: Immunohistochemical and ultrastructural analysis
-
Kikuchi, T., Adams, J. C., Paul, D. L., & Kimura, R. S. (1994). Gap junction systems in the rat vestibular labyrinth: Immunohistochemical and ultrastructural analysis. Acta Oto-laryngologica, 114(5), 520-528.
-
(1994)
Acta Oto-laryngologica
, vol.114
, Issue.5
, pp. 520-528
-
-
Kikuchi, T.1
Adams, J.C.2
Paul, D.L.3
Kimura, R.S.4
-
16
-
-
0028843286
-
Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
-
Kikuchi, T., Kimura, R. S., Paul, D. L., & Adams, J. C. (1995). Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis. Anatomy & Embryology, 191(2), 101-118.
-
(1995)
Anatomy & Embryology
, vol.191
, Issue.2
, pp. 101-118
-
-
Kikuchi, T.1
Kimura, R.S.2
Paul, D.L.3
Adams, J.C.4
-
17
-
-
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., Van Camp, G., Berlin, C. I., Oddoux, C., Ostrer, H., Keats, B., & Friedman, T. B. (1998). Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. New England Journal of Medicine, 339(21), 1500-1505.
-
(1998)
New England Journal of Medicine
, vol.339
, Issue.21
, pp. 1500-1505
-
-
Morell, R.J.1
Kim, H.J.2
Hood, L.J.3
Goforth, L.4
Friderici, K.5
Fisher, R.6
Van Camp, G.7
Berlin, C.I.8
Oddoux, C.9
Ostrer, H.10
Keats, B.11
Friedman, T.B.12
-
19
-
-
0029118373
-
A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26
-
Priest, J. M., Fischbeck, K. H., Nouri, N., & Keats, B. J. (1995). A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics, 29(2), 409-412.
-
(1995)
Genomics
, vol.29
, Issue.2
, pp. 409-412
-
-
Priest, J.M.1
Fischbeck, K.H.2
Nouri, N.3
Keats, B.J.4
-
20
-
-
7144228618
-
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss
-
Scott, D. A., Kraft, M. L., Carmi, R., Ramesh, A., Elbedour, K., Yairi, Y., Srisailapathy, C. R., Rosengren, S. S., Markham, A. F., Mueller, R. F., Lench, N. J., Van Camp, G., Smith, R. J., & Sheffield, V. C. (1998). Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Human Mutation, 11(5), 387-394.
-
(1998)
Human Mutation
, vol.11
, Issue.5
, pp. 387-394
-
-
Scott, D.A.1
Kraft, M.L.2
Carmi, R.3
Ramesh, A.4
Elbedour, K.5
Yairi, Y.6
Srisailapathy, C.R.7
Rosengren, S.S.8
Markham, A.F.9
Mueller, R.F.10
Lench, N.J.11
Van Camp, G.12
Smith, R.J.13
Sheffield, V.C.14
-
21
-
-
0001220847
-
Hereditary deaf mutism, with particular reference to Northern Ireland
-
Stevenson, A. C., & Cheeseman, E. A. (1956). Hereditary deaf mutism, with particular reference to Northern Ireland. Annals of Human Genetics, 20, 177-231.
-
(1956)
Annals of Human Genetics
, vol.20
, pp. 177-231
-
-
Stevenson, A.C.1
Cheeseman, E.A.2
-
22
-
-
0345947851
-
-
Unpublished data presented at February 1999 Association for Research in Otolaryngology, St. Petersburg, FL
-
Usami, S., Abe, S., Shinkawa, H., Weston, M. D., Kelley P., & Kimberling, W. J. (1999). Prevalent mutations in connexin 26 gene in sporadic and recessive non-syndromic deafness in Japanese population. Unpublished data presented at February 1999 Association for Research in Otolaryngology, St. Petersburg, FL.
-
(1999)
Prevalent Mutations in Connexin 26 Gene in Sporadic and Recessive Non-syndromic Deafness in Japanese Population
-
-
Usami, S.1
Abe, S.2
Shinkawa, H.3
Weston, M.D.4
Kelley, P.5
Kimberling, W.J.6
-
23
-
-
17344373747
-
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
-
Xia, J. H., Liu, C. Y., Tang, B. S., Pan, Q., Huang, L., Dai, H. P., Zhang, B. R., Xie, W., Hu, D. X., Zheng, D., Shi, X. L., Wang, D. A., Xia, K., Yu, K. P., Liao, X. D., Feng, Y., Yang, Y. F., Xiao, J. Y., Xie, D. H., & Huang, J. Z. (1998). Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nature Genetics, 20, 370-373.
-
(1998)
Nature Genetics
, vol.20
, pp. 370-373
-
-
Xia, J.H.1
Liu, C.Y.2
Tang, B.S.3
Pan, Q.4
Huang, L.5
Dai, H.P.6
Zhang, B.R.7
Xie, W.8
Hu, D.X.9
Zheng, D.10
Shi, X.L.11
Wang, D.A.12
Xia, K.13
Yu, K.P.14
Liao, X.D.15
Feng, Y.16
Yang, Y.F.17
Xiao, J.Y.18
Xie, D.H.19
Huang, J.Z.20
more..
-
24
-
-
9844245885
-
Connexin26 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., Mila, M., Monica, M. D., Lutfi, J., Shohat, M., Mansfield, E., Delgrosso, K., Rappaport, E., Surrey, S., & Fortina, P. (1997). Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Human Molecular Genetics, 6(9), 1605-1609.
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.9
, pp. 1605-1609
-
-
Zelante, L.1
Gasparini, P.2
Estivill, X.3
Melchionda, S.4
D'Agruma, L.5
Govea, N.6
Mila, M.7
Monica, M.D.8
Lutfi, J.9
Shohat, M.10
Mansfield, E.11
Delgrosso, K.12
Rappaport, E.13
Surrey, S.14
Fortina, P.15
|