-
1
-
-
0003539147
-
-
Oxford University Press, Oxford, UK
-
Gorlin, R.J., Toriello, H.V. and Cohen, M.M. (1995) Hereditary Hearing Loss and its Syndromes. Oxford University Press, Oxford, UK.
-
(1995)
Hereditary Hearing Loss and Its Syndromes
-
-
Gorlin, R.J.1
Toriello, H.V.2
Cohen, M.M.3
-
3
-
-
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. and 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
-
4
-
-
0030960855
-
Mutations in myosin VIIA gene caused non-syndromic recessive deafness
-
Liu, X.Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, J.T.V., Steel, K. and Brown, S.D.M. (1997) Mutations in myosin VIIA gene caused non-syndromic recessive deafness. Nature Genet., 16, 188-190.
-
(1997)
Nature Genet.
, vol.16
, pp. 188-190
-
-
Liu, X.Z.1
Walsh, J.2
Mburu, P.3
Kendrick-Jones, J.4
Cope, J.T.V.5
Steel, K.6
Brown, S.D.M.7
-
5
-
-
0030951102
-
The autosomal recessive isolated deafness, DFNB2, and the Usher IB syndrome are allelic defects of the myosin-VIIA gene
-
Weil, D., Kussel, P., Blanchard, S., Levy, G., Levi-Acobas, F., Drira, F., Ayadi, H. and Petit, C. (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher IB syndrome are allelic defects of the myosin-VIIA gene. Nature Genet., 16, 191-193.
-
(1997)
Nature Genet.
, vol.16
, pp. 191-193
-
-
Weil, D.1
Kussel, P.2
Blanchard, S.3
Levy, G.4
Levi-Acobas, F.5
Drira, F.6
Ayadi, H.7
Petit, C.8
-
6
-
-
0032577293
-
Association of unconventional myosin MY015 mutations with human nonsyndromic deafness DFNB3
-
Wang, A., Liang, Y., Fridell, R.A., Probst, F.J., Wilcox, E.R., Touchman, J.W., Morton, C.C., Morell, R.J., Noben-Trauth, K., Camper, S.A. and Friedman, T.B. (1998) Association of unconventional myosin MY015 mutations with human nonsyndromic deafness DFNB3. Science, 280, 1447-1451.
-
(1998)
Science
, vol.280
, pp. 1447-1451
-
-
Wang, A.1
Liang, Y.2
Fridell, R.A.3
Probst, F.J.4
Wilcox, E.R.5
Touchman, J.W.6
Morton, C.C.7
Morell, R.J.8
Noben-Trauth, K.9
Camper, S.A.10
Friedman, T.B.11
-
7
-
-
0032011145
-
A mutation in PDS causes non-syndromic recessive deafness
-
Li, X.C., Everett, L.A., Lalwani, A.K., Desmukh, D., Friedman, T.B., Green, E.D. and Wilcox, E.R. (1998) A mutation in PDS causes non-syndromic recessive deafness. Nature Genet., 18, 215-217.
-
(1998)
Nature Genet.
, vol.18
, pp. 215-217
-
-
Li, X.C.1
Everett, L.A.2
Lalwani, A.K.3
Desmukh, D.4
Friedman, T.B.5
Green, E.D.6
Wilcox, E.R.7
-
8
-
-
0032977996
-
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21
-
Mustapha, M., Weil, D., Chardenoux, S., Elias, S., El-Zir, E., Beckmann, J.S., Loiselet, J. and Petit, C. (1999) An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21. Hum. Mol. Genet., 8, 409-412.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 409-412
-
-
Mustapha, M.1
Weil, D.2
Chardenoux, S.3
Elias, S.4
El-Zir, E.5
Beckmann, J.S.6
Loiselet, J.7
Petit, C.8
-
9
-
-
0032947634
-
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness
-
Yasunaga, S., Grati, M., Cohen-Salmon, M., El-Amraoui, A., Mustapha, M., Salem, N., El-Zir, E., Loiselet, J. and Petit, C. (1999) A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nature Genet., 21, 363-369.
-
(1999)
Nature Genet.
, vol.21
, pp. 363-369
-
-
Yasunaga, S.1
Grati, M.2
Cohen-Salmon, M.3
El-Amraoui, A.4
Mustapha, M.5
Salem, N.6
El-Zir, E.7
Loiselet, J.8
Petit, C.9
-
10
-
-
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. and 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
-
11
-
-
0032547941
-
A new era in the genetics of deafness
-
Steel, K.P. (1998) A new era in the genetics of deafness. New Eng. J. Med., 339, 1545-1547.
-
(1998)
New Eng. J. Med.
, vol.339
, pp. 1545-1547
-
-
Steel, K.P.1
-
12
-
-
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. et al. (1998) Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nature Genet., 20, 370-373.
-
(1998)
Nature Genet.
, 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
-
13
-
-
0030013202
-
Connexins, connexons, and intercellular communication
-
Goodenough, D.A., Goliger, J.A. and Paul, D.L. (1996) Connexins, connexons, and intercellular communication. Annu. Rev. Biochem., 65, 75-502.
-
(1996)
Annu. Rev. Biochem.
, vol.65
, pp. 475-502
-
-
Goodenough, D.A.1
Goliger, J.A.2
Paul, D.L.3
-
14
-
-
0031796918
-
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
-
Richard, G., Smith, L.E., Bailey, R.A., Itin, P., Hohl, D., Epstein Jr, E.H., DiGiovanna, J.J., Compton, J.G. and Bale, S.J. (1998) Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nature Genet., 20, 366-369.
-
(1998)
Nature Genet.
, vol.20
, pp. 366-369
-
-
Richard, G.1
Smith, L.E.2
Bailey, R.A.3
Itin, P.4
Hohl, D.5
Epstein E.H., Jr.6
DiGiovanna, J.J.7
Compton, J.G.8
Bale, S.J.9
-
15
-
-
0025831254
-
Molecular cloning and characterization of a new member of the gap junction gene family, connexin-31
-
Hoh, J.H., John, S.A. and Revel, J.P. (1991) Molecular cloning and characterization of a new member of the gap junction gene family, connexin-31. J. Biol. Chem., 266, 6524-6531.
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 6524-6531
-
-
Hoh, J.H.1
John, S.A.2
Revel, J.P.3
-
16
-
-
0032581383
-
Human gap junction protein connexin31: Molecular cloning and expression analysis
-
Wenzel, K., Manthey, D., Willecke, K., Grzeschik, K.H. and Traub, O. (1998) Human gap junction protein connexin31: molecular cloning and expression analysis. Biochem. Biophys. Res. Commun., 248, 910-915.
-
(1998)
Biochem. Biophys. Res. Commun.
, vol.248
, pp. 910-915
-
-
Wenzel, K.1
Manthey, D.2
Willecke, K.3
Grzeschik, K.H.4
Traub, O.5
-
17
-
-
0033596845
-
Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)
-
Stojkovic, T., Latour, P., Vandenberghe, A., Hurtevent, J.F. and Vermersch, P. (1999) Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q). Neurology, 52, 1010-1014.
-
(1999)
Neurology
, vol.52
, pp. 1010-1014
-
-
Stojkovic, T.1
Latour, P.2
Vandenberghe, A.3
Hurtevent, J.F.4
Vermersch, P.5
-
18
-
-
0028018967
-
Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease
-
Bruzzone, R., White, T.W., Scherer, S.S., Fischbeck, K.H. and Paul, D.L. (1994) Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron, 135, 1253-1260.
-
(1994)
Neuron
, vol.135
, pp. 1253-1260
-
-
Bruzzone, R.1
White, T.W.2
Scherer, S.S.3
Fischbeck, K.H.4
Paul, D.L.5
-
19
-
-
0028243870
-
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease
-
Fairweather, N., Bell, C., Cochrane, S., Chelly, J., Wang, S., Mostacciuolo, M.L., Monaco, A.P. and Haites, N.B. (1994) Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease Hum. Mol. Genet., 3, 1034.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1034
-
-
Fairweather, N.1
Bell, C.2
Cochrane, S.3
Chelly, J.4
Wang, S.5
Mostacciuolo, M.L.6
Monaco, A.P.7
Haites, N.B.8
-
20
-
-
0031278277
-
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
-
Liu, X.Z., Walsh, J., Tamagawa, Y., Kitamura, K., Nishizawa, M., Steel, K. and Brown, S.D.M. (1997) Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nature Genet., 17, 268-269.
-
(1997)
Nature Genet.
, vol.17
, pp. 268-269
-
-
Liu, X.Z.1
Walsh, J.2
Tamagawa, Y.3
Kitamura, K.4
Nishizawa, M.5
Steel, K.6
Brown, S.D.M.7
-
21
-
-
17344364928
-
Mutations in human alpha tectorin cause autosomal dominant non-syndromic hearing loss (DFNA12/DFNA8)
-
Verhoeven, K., Van Vaer, L., Kirschhofer, K., Legan, P.K., Hughed, D.C., Verstreken, M.J., Govaerts, P.J., Schatteman, I., Van Hauwe, P., Couke, P. et al. (1998) Mutations in human alpha tectorin cause autosomal dominant non-syndromic hearing loss (DFNA12/DFNA8). Nature Genet., 19, 60-62.
-
(1998)
Nature Genet.
, vol.19
, pp. 60-62
-
-
Verhoeven, K.1
Van Vaer, L.2
Kirschhofer, K.3
Legan, P.K.4
Hughed, D.C.5
Verstreken, M.J.6
Govaerts, P.J.7
Schatteman, I.8
Van Hauwe, P.9
Couke, P.10
-
22
-
-
0028227613
-
Non-syndromic hearing loss: An analysis of audiogram
-
Liu, X.Z. and Xu, L.R. (1994) Non-syndromic hearing loss: an analysis of audiogram. Ann. Otol. Rhinol. Laryngol., 100, 428-432.
-
(1994)
Ann. Otol. Rhinol. Laryngol.
, vol.100
, pp. 428-432
-
-
Liu, X.Z.1
Xu, L.R.2
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