-
1
-
-
0343081060
-
Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9)
-
Verhagen W.I.M., Bom S.J.H., Huygen P.L.M., Fransen E., van Camp G., Cremers C.W.R.J. Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9). Arch. Neurol. 57:2000;1045-1047.
-
(2000)
Arch. Neurol.
, vol.57
, pp. 1045-1047
-
-
Verhagen, W.I.M.1
Bom, S.J.H.2
Huygen, P.L.M.3
Fransen, E.4
Van Camp, G.5
Cremers, C.W.R.J.6
-
2
-
-
0035180714
-
Hereditary otovestibular dysfunction and Meniere's disease in the large Belgian family is caused by a missense mutation in the COCH gene
-
Verstreken M., Declau F., Wuyts F.L., Haese P.D., van Camp G., Fransen E., Hauwe V., Buyle S., Smets R.E.M., Feenstra L., van der Stappen A., van de Heyning P.H. Hereditary otovestibular dysfunction and Meniere's disease in the large Belgian family is caused by a missense mutation in the COCH gene. Otol. Neurotol. 22:2001;874-881.
-
(2001)
Otol. Neurotol.
, vol.22
, pp. 874-881
-
-
Verstreken, M.1
Declau, F.2
Wuyts, F.L.3
Haese, P.D.4
Van Camp, G.5
Fransen, E.6
Hauwe, V.7
Buyle, S.8
Smets, R.E.M.9
Feenstra, L.10
Van Der Stappen, A.11
Van De Heyning, P.H.12
-
3
-
-
0032837049
-
High prevalence of symptoms of Meniére's disease in three families with a mutation in the COCH gene
-
Fransen E., Verstreken M., Verhagen W.I.M., Wuyts F.L., Huygen P.L.M., D'Haese P., Robertson N.G., Morton C.C., McGuirt W.T., Smith R.J.H., Declau F., van de Heyning P.H., van Camp G. High prevalence of symptoms of Meniére's disease in three families with a mutation in the COCH gene. Hum. Mol. Genet. 8:1999;1425-1429.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1425-1429
-
-
Fransen, E.1
Verstreken, M.2
Verhagen, W.I.M.3
Wuyts, F.L.4
Huygen, P.L.M.5
D'Haese, P.6
Robertson, N.G.7
Morton, C.C.8
McGuirt, W.T.9
Smith, R.J.H.10
Declau, F.11
Van De Heyning, P.H.12
Van Camp, G.13
-
4
-
-
0032929077
-
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
-
de Kok Y.J.M., Bom S.J.H., Brunt T.M., Kemperman M.H., van Beusekom E., van der Velde-Visser S.D., Robertson N.G., Morton C.C., Huygen P.L.M., Verhagen W.I.M., Brunner H.G., Cremers C.W.R.J., Cremers F.P.M. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Hum. Mol. Genet. 8:1999;361-366.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 361-366
-
-
De Kok, Y.J.M.1
Bom, S.J.H.2
Brunt, T.M.3
Kemperman, M.H.4
Van Beusekom, E.5
Van Der Velde-Visser, S.D.6
Robertson, N.G.7
Morton, C.C.8
Huygen, P.L.M.9
Verhagen, W.I.M.10
Brunner, H.G.11
Cremers, C.W.R.J.12
Cremers, F.P.M.13
-
5
-
-
17344363707
-
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
-
Robertson N.G., Lu L., Heller S., Merchant S.N., Eavey R.D., McKenna M., Nadol J.B. Jr., Miyamoto R.T., Linthicum F.H. Jr., Lubianca Neto J.F., Hudspeth A.J., Seidman C.E., Morton C.C., Seidman J.G. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat. Genet. 20:1998;299-303.
-
(1998)
Nat. Genet.
, vol.20
, pp. 299-303
-
-
Robertson, N.G.1
Lu, L.2
Heller, S.3
Merchant, S.N.4
Eavey, R.D.5
McKenna, M.6
Nadol, J.B.Jr.7
Miyamoto, R.T.8
Linthicum, F.H.Jr.9
Lubianca Neto, J.F.10
Hudspeth, A.J.11
Seidman, C.E.12
Morton, C.C.13
Seidman, J.G.14
-
6
-
-
8944247751
-
A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13
-
Manolis E.N., Yandavi N., Nadol J.B. Jr., Eavey R.D., McKenna M., Rosenbaum S., Khetarpal U., Halpin C., Merchant S.N., Duyk G.M., MacRae C., Seidman C.E., Seidman J.G. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Hum. Mol. Genet. 5:1996;1047-1050.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1047-1050
-
-
Manolis, E.N.1
Yandavi, N.2
Nadol, J.B.Jr.3
Eavey, R.D.4
McKenna, M.5
Rosenbaum, S.6
Khetarpal, U.7
Halpin, C.8
Merchant, S.N.9
Duyk, G.M.10
MacRae, C.11
Seidman, C.E.12
Seidman, J.G.13
-
7
-
-
10744220263
-
Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease
-
Usami S., Takahashi K., Yuge I., Ohtsuka A., Namba A., Abe S., Fransen E., Patthy L., Otting G., van Camp G. Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease. Eur. J. Hum. Genet. 11:2003;744-748.
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 744-748
-
-
Usami, S.1
Takahashi, K.2
Yuge, I.3
Ohtsuka, A.4
Namba, A.5
Abe, S.6
Fransen, E.7
Patthy, L.8
Otting, G.9
Van Camp, G.10
-
8
-
-
0035953042
-
Identification of the protein product of the COCH gene - Hereditary deafness gene - As the major component of inner ear protein
-
Ikezono T., Omori A., Ichinose S., Pawankar R., Watanabe A., Yagi T. Identification of the protein product of the COCH gene - hereditary deafness gene - as the major component of inner ear protein. Biochim. Biophys. Acta (Molecular Basis of Disease). 1535:2001;258-265.
-
(2001)
Biochim. Biophys. Acta (Molecular Basis of Disease)
, vol.1535
, pp. 258-265
-
-
Ikezono, T.1
Omori, A.2
Ichinose, S.3
Pawankar, R.4
Watanabe, A.5
Yagi, T.6
-
11
-
-
0031573922
-
Mapping and characterization of a novel cochlear gene in human and in mouse: A positional candidate gene for a deafness disorder, DFNA9
-
Robertson N.G., Skvorak A.B., Yin Y., Weremowicz S., Johnson K.R., Kovatch K.A., Battey J.F., Bieber F.R., Morton C.C. Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9. Genomics. 46:1997;345-354.
-
(1997)
Genomics
, vol.46
, pp. 345-354
-
-
Robertson, N.G.1
Skvorak, A.B.2
Yin, Y.3
Weremowicz, S.4
Johnson, K.R.5
Kovatch, K.A.6
Battey, J.F.7
Bieber, F.R.8
Morton, C.C.9
-
12
-
-
0037488241
-
Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9
-
Robertson N.G., Hamaker S.A., Patriub v., Aster J.C., Morton C.C. Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. J. Med. Genet. 40:2003;479-486.
-
(2003)
J. Med. Genet.
, vol.40
, pp. 479-486
-
-
Robertson, N.G.1
Hamaker, S.A.2
Patriub, V.3
Aster, J.C.4
Morton, C.C.5
-
13
-
-
0141920801
-
Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin
-
Grabski R., Szul T., Sasaki T., Timpl R., Mayne R., Hicks B., Sztul E. Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. Hum. Genet. 113(5):2003;406-416.
-
(2003)
Hum. Genet.
, vol.113
, Issue.5
, pp. 406-416
-
-
Grabski, R.1
Szul, T.2
Sasaki, T.3
Timpl, R.4
Mayne, R.5
Hicks, B.6
Sztul, E.7
-
14
-
-
0035476697
-
NMR structure of the LCCL domain and implications for DFNA9 deafness disorder
-
Liepinsh E., Trexler M., Kaikkonen A., Weigelt J., Banyai L., Patthy L., Otting G. NMR structure of the LCCL domain and implications for DFNA9 deafness disorder. EMBO J. 20:2001;5347-5353.
-
(2001)
EMBO J.
, vol.20
, pp. 5347-5353
-
-
Liepinsh, E.1
Trexler, M.2
Kaikkonen, A.3
Weigelt, J.4
Banyai, L.5
Patthy, L.6
Otting, G.7
-
15
-
-
0029011531
-
Isoelectric focusing as a tool for the investigation of post-translational processing and chemical modifications of proteins
-
Gianazza E. Isoelectric focusing as a tool for the investigation of post-translational processing and chemical modifications of proteins. J. Chromatogr. A. 23:1995;67-87.
-
(1995)
J. Chromatogr. a
, vol.23
, pp. 67-87
-
-
Gianazza, E.1
|