-
1
-
-
0030707797
-
Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
-
Lynch, E.D., Lee, M.K., Morrow, J.E., Welcsh, P.L., Leon, P.E. and King, M.C. (1997) Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science, 278, 1315-1318.
-
(1997)
Science
, vol.278
, pp. 1315-1318
-
-
Lynch, E.D.1
Lee, M.K.2
Morrow, J.E.3
Welcsh, P.L.4
Leon, P.E.5
King, M.C.6
-
2
-
-
0031007349
-
Connexin26 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) Connexin26 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
-
3
-
-
0030960855
-
Mutations in the myosin VIIA gene cause nonsyndromic recessive deafness
-
Liu, X.Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M.J., Steel, K.P. and Brown, S.D. (1997) Mutations in the myosin VIIA gene cause nonsyndromic 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, M.J.5
Steel, K.P.6
Brown, S.D.7
-
4
-
-
17344364928
-
Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
-
Verhoeven, K., Van Laer, L., Kirschhofer, K., Legan, P.K., Hughes, D.C., Schatteman, I., Verstreken, M., Van Hauwe, P., Coucke, P., Chen, A., Smith, R.J., Somers, T., Offeciers, F.E., Van de Heyning, P., Richardson, G.P., Wachtler, F., Kimberling, W.T., Willems, P.J., Govaerts, P.J. and Van Camp, G. (1998) Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nature Genet., 19, 60-62.
-
(1998)
Nature Genet.
, vol.19
, pp. 60-62
-
-
Verhoeven, K.1
Van Laer, L.2
Kirschhofer, K.3
Legan, P.K.4
Hughes, D.C.5
Schatteman, I.6
Verstreken, M.7
Van Hauwe, P.8
Coucke, P.9
Chen, A.10
Smith, R.J.11
Somers, T.12
Offeciers, F.E.13
Van De Heyning, P.14
Richardson, G.P.15
Wachtler, F.16
Kimberling, W.T.17
Willems, P.J.18
Govaerts, P.J.19
Van Camp, G.20
more..
-
5
-
-
7144257859
-
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
-
Vahava, O., Morell, R., Lynch, E.D., Weiss, S., Kagan, M.E., Ahituv, N., Morrow, J.E., Lee, M.K., Skvorak, A.B., Morton, C.C., Blumenfeld, A., Frydman, M., Friedman, T.B., King, M.C. and Avraham, K.B. (1998) Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. Science, 279, 1950-1954.
-
(1998)
Science
, vol.279
, pp. 1950-1954
-
-
Vahava, O.1
Morell, R.2
Lynch, E.D.3
Weiss, S.4
Kagan, M.E.5
Ahituv, N.6
Morrow, J.E.7
Lee, M.K.8
Skvorak, A.B.9
Morton, C.C.10
Blumenfeld, A.11
Frydman, M.12
Friedman, T.B.13
King, M.C.14
Avraham, K.B.15
-
6
-
-
16944366606
-
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
-
Everett, L.A., Glazer, B., Beck, J.C., Idol, J.R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A.D., Sheffield, V.C. and Green, E. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nature Genet., 17, 411-422.
-
(1997)
Nature Genet.
, vol.17
, pp. 411-422
-
-
Everett, L.A.1
Glazer, B.2
Beck, J.C.3
Idol, J.R.4
Buchs, A.5
Heyman, M.6
Adawi, F.7
Hazani, E.8
Nassir, E.9
Baxevanis, A.D.10
Sheffield, V.C.11
Green, E.12
-
7
-
-
0032011145
-
A mutation in PDS causes nonsyndromic 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 nonsyndromic 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
-
-
0032577293
-
Association of unconventional myosin MYO15 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 MYO15 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
-
9
-
-
0028988233
-
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4
-
de Kok, Y.J., van der Maarel, S.M., Bitner-Glindzicz, M., Huber, I., Monaco, A.P., Malcolm, S., Pembrey, M.E., Ropers, H.H. and Cremers, F.P. (1995) Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science, 267, 685-688.
-
(1995)
Science
, vol.267
, pp. 685-688
-
-
De Kok, Y.J.1
Van Der Maarel, S.M.2
Bitner-Glindzicz, M.3
Huber, I.4
Monaco, A.P.5
Malcolm, S.6
Pembrey, M.E.7
Ropers, H.H.8
Cremers, F.P.9
-
10
-
-
17344371515
-
Nonsyndromic hearing impairment is associated with a mutation in DFNA5
-
Van Laer, L., Huizing, E.H., Verstreken, M., Van Zuylen, D., Wauters, J.G., Bossuyt, P.J., Van de Heyning, P., McGuirt, W., Smith, R.J.H., Willems, P.J., Legan, P.K., Richardson, G.P. and Van Camp, G. (1998) Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nature Genet., 20, 194-197.
-
(1998)
Nature Genet.
, vol.20
, pp. 194-197
-
-
Van Laer, L.1
Huizing, E.H.2
Verstreken, M.3
Van Zuylen, D.4
Wauters, J.G.5
Bossuyt, P.J.6
Van De Heyning, P.7
McGuirt, W.8
Smith, R.J.H.9
Willems, P.J.10
Legan, P.K.11
Richardson, G.P.12
Van Camp, G.13
-
11
-
-
17344363707
-
Mutations in a novel cochlear gene COCH5B2 cause DFNA9, a human nonsyndromic sensorineural deafness with vestibular dysfunction
-
Robertson, N.G., Lu, L., Heller, S., Merchant, S.N., Eavey, R.D., McKenna, M., Nadol, J.B., Miyamoto, R.T., Linthicum, F.H., Lubianca Neto, J.F., Hudspeth, A.J., Seidman, C.E., Morton, C.C. and Seidman, J.G. (1998) Mutations in a novel cochlear gene COCH5B2 cause DFNA9, a human nonsyndromic sensorineural deafness with vestibular dysfunction. Nature Genet., 20, 299-303.
-
(1998)
Nature 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.7
Miyamoto, R.T.8
Linthicum, F.H.9
Lubianca Neto, J.F.10
Hudspeth, A.J.11
Seidman, C.E.12
Morton, C.C.13
Seidman, J.G.14
-
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., 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. and Huang, J.Z. (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
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..
-
13
-
-
0028101878
-
Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families
-
Coucke, P., Van Camp, G., Djoyodiharjo, B., Smith, S.D., Frants, R.R., Padberg, G.W., Darby, J.K., Huizing, E.H., Cremers, C.W., Kimberling, W.J., Oostra, B.A., Van de Heyning, P. and Willems, P.J. (1994) Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N. Engl. J. Med., 331, 425-431.
-
(1994)
N. Engl. J. Med.
, vol.331
, pp. 425-431
-
-
Coucke, P.1
Van Camp, G.2
Djoyodiharjo, B.3
Smith, S.D.4
Frants, R.R.5
Padberg, G.W.6
Darby, J.K.7
Huizing, E.H.8
Cremers, C.W.9
Kimberling, W.J.10
Oostra, B.A.11
Van De Heyning, P.A.12
Willems, P.J.13
-
14
-
-
0031127215
-
Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p
-
Van Camp, G., Coucke, P.J., Kunst, H., Schatteman, I., van Velzen, D., Marres, H., Van Ewijk, M., Declau, F., Van Hauwe, P., Meyers, J., Kenyon, J., Smith, S.D., Smith, R.J., Djelantik, B., Cremers, C.W.J.R., Van de Heyning, P.H. and Willems, P.J. (1997) Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p. Genomics, 41, 70-74.
-
(1997)
Genomics
, vol.41
, pp. 70-74
-
-
Van Camp, G.1
Coucke, P.J.2
Kunst, H.3
Schatteman, I.4
Van Velzen, D.5
Marres, H.6
Van Ewijk, M.7
Declau, F.8
Van Hauwe, P.9
Meyers, J.10
Kenyon, J.11
Smith, S.D.12
Smith, R.J.13
Djelantik, B.14
Cremers, C.W.J.R.15
Van De Heyning, P.H.16
Willems, P.J.17
-
15
-
-
0033017022
-
Deafness linked to DFNA2: One locus but how many genes?
-
Van Hauwe, P., Coucke, P., Declau, F., Kunst, H., Ensink, R., Marres, H., Cremers, C.W.J.R., Djelantik, B., Smith, S., Kelley, P., Van de Heyning, P. and Van Camp, G. (1999) Deafness linked to DFNA2: one locus but how many genes? Nature Genet., 21, 263.
-
(1999)
Nature Genet.
, vol.21
, pp. 263
-
-
Van Hauwe, P.1
Coucke, P.2
Declau, F.3
Kunst, H.4
Ensink, R.5
Marres, H.6
Cremers, C.W.J.R.7
Djelantik, B.8
Smith, S.9
Kelley, P.10
Van De Heyning, P.11
Van Camp, G.12
-
16
-
-
0033524936
-
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
-
Kubisch, C., Schroeder, B.C., Friedrich, T., Lütjohann, B., El-Amraoui, A., Marlin, S., Petit, C. and Jentsch, T.J. (1999) KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell, 96, 437-446.
-
(1999)
Cell
, vol.96
, pp. 437-446
-
-
Kubisch, C.1
Schroeder, B.C.2
Friedrich, T.3
Lütjohann, B.4
El-Amraoui, A.5
Marlin, S.6
Petit, C.7
Jentsch, T.J.8
-
17
-
-
9044240040
-
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
-
Wang, Q., Curran, M.E., Splawski, I., Burn, T.C., Millholland, J.M., Van-Raay, T.J., Shen, J., Timothy, K.W., Vincent, G.M., de Jager, T., Schwartz, P.J., Toubin, J.A., Moss, A.J., Atkinson, D.L., Landes, G.M., Connors, T.D. and Keating, M.T. (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genet., 12, 17-23.
-
(1996)
Nature Genet.
, vol.12
, pp. 17-23
-
-
Wang, Q.1
Curran, M.E.2
Splawski, I.3
Burn, T.C.4
Millholland, J.M.5
Van-Raay, T.J.6
Shen, J.7
Timothy, K.W.8
Vincent, G.M.9
De Jager, T.10
Schwartz, P.J.11
Toubin, J.A.12
Moss, A.J.13
Atkinson, D.L.14
Landes, G.M.15
Connors, T.D.16
Keating, M.T.17
-
18
-
-
0030723260
-
Mutations in the hminK gene cause long QT syndrome and suppress IKs function
-
Splawski, I., Tristani-Firouzi, M., Lehmann, M.H., Sanguinetti, M.C. and Keating, M.T. (1997) Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nature Genet., 17, 338-340.
-
(1997)
Nature Genet.
, vol.17
, pp. 338-340
-
-
Splawski, I.1
Tristani-Firouzi, M.2
Lehmann, M.H.3
Sanguinetti, M.C.4
Keating, M.T.5
-
19
-
-
0031054075
-
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
-
Neyroud, N., Tesson, F., Denjoy, I., Leibovici, M., Donger, C., Barhanin, J., Faurθ, S., Gary, F., Coumel, P., Petit, C., Schwartz, K. and Guicheney, P. (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genet., 15, 186-189.
-
(1997)
Nature Genet.
, vol.15
, pp. 186-189
-
-
Neyroud, N.1
Tesson, F.2
Denjoy, I.3
Leibovici, M.4
Donger, C.5
Barhanin, J.6
Fauro, S.7
Gary, F.8
Coumel, P.9
Petit, C.10
Schwartz, K.11
Guicheney, P.12
-
20
-
-
0032483972
-
KCNQ2 and KCNQ3 potassium channel subunits: Molecular correlates of the M-channel
-
Wang, H.S., Pan, Z., Shi, W., Brown, B.S., Wymore, R.S., Cohen, I.S., Dixon, J.E. and McKinnon, D. (1998) KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science, 282, 1890-1893.
-
(1998)
Science
, vol.282
, pp. 1890-1893
-
-
Wang, H.S.1
Pan, Z.2
Shi, W.3
Brown, B.S.4
Wymore, R.S.5
Cohen, I.S.6
Dixon, J.E.7
McKinnon, D.8
-
22
-
-
0032584595
-
Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy
-
Yang, W.P., Levesque, P.C., Little, W.A., Conder, M.L., Ramakrishnan, P., Neubauer, M.G. and Blanar, M.A. (1998) Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy. J. Biol. Chem., 273, 19419-19423.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 19419-19423
-
-
Yang, W.P.1
Levesque, P.C.2
Little, W.A.3
Conder, M.L.4
Ramakrishnan, P.5
Neubauer, M.G.6
Blanar, M.A.7
-
24
-
-
0030782276
-
+ channel mutations found in inherited cardiac arrhythmias
-
+ channel mutations found in inherited cardiac arrhythmias. Hum. Mol. Genet., 6, 1943-1949.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1943-1949
-
-
Wollnik, B.1
Schroeder, B.C.2
Kubisch, C.3
Esperer, H.D.4
Wieacker, P.5
Jentsch, T.J.6
-
26
-
-
0032478818
-
+ conduction and selectivity
-
+ conduction and selectivity. Science, 280, 69-77.
-
(1998)
Science
, vol.280
, pp. 69-77
-
-
Doyle, D.A.1
Cabral, J.M.2
Pfuetzner, R.A.3
Kuo, A.4
Gulbis, J.M.5
Cohen, S.L.6
Chait, B.T.7
MacKinnon, R.8
-
27
-
-
0029840732
-
KVLQT1 mutations in three families with familial or sporadic long QT syndrome
-
Russell, M.W., Dick, M., Collins, F.S. and Brody, L.C. (1996) KVLQT1 mutations in three families with familial or sporadic long QT syndrome. Hum. Mol. Genet., 5, 1319-1324.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1319-1324
-
-
Russell, M.W.1
Dick, M.2
Collins, F.S.3
Brody, L.C.4
-
28
-
-
0030924035
-
The long QT syndrome: A novel missense mutation in the S6 region of the KVLQT1 gene
-
van den Berg, M.H., Wilde, A.A., de Robles, M., Meyer, H., Geelen, J.L., Jongbloed, R.J., Wellens, H.J. and Geraedts, J.P. (1997) The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. Hum. Genet., 100, 356-361.
-
(1997)
Hum. Genet.
, vol.100
, pp. 356-361
-
-
Van Den Berg, M.H.1
Wilde, A.A.2
De Robles, M.3
Meyer, H.4
Geelen, J.L.5
Jongbloed, R.J.6
Wellens, H.J.7
Geraedts, J.P.8
-
30
-
-
0029840041
-
A molecular basis for the therapy of the long QT syndrome
-
Priori, S.G., Napolitano, C. and Schwartz, P.J. (1996) A molecular basis for the therapy of the long QT syndrome. Arch. Mal. Vaiss., 89, 1185-1187.
-
(1996)
Arch. Mal. Vaiss.
, vol.89
, pp. 1185-1187
-
-
Priori, S.G.1
Napolitano, C.2
Schwartz, P.J.3
-
31
-
-
0032574657
-
+ channel opener in the LQT1 form of congenital long-QT syndrome
-
+ channel opener in the LQT1 form of congenital long-QT syndrome. Circ. Res., 97, 1581-1588.
-
(1998)
Circ. Res.
, vol.97
, pp. 1581-1588
-
-
Shimizu, W.1
Kurita, T.2
Matsuo, K.3
Suyama, K.4
Aihara, N.5
Kamakura, S.6
Towbin, J.A.7
Shimomura, K.8
-
32
-
-
0030917967
-
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2
-
Marres, H., Van Ewijk, M., Huygen, P., Kunst, H., Van Camp, G., Coucke, P., Willems, P. and Cremers, C. (1997) Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2. Arch. Otolaryngol. Head Neck Surg., 123, 573-577.
-
(1997)
Arch. Otolaryngol. Head Neck Surg.
, vol.123
, pp. 573-577
-
-
Marres, H.1
Van Ewijk, M.2
Huygen, P.3
Kunst, H.4
Van Camp, G.5
Coucke, P.6
Willems, P.7
Cremers, C.8
-
33
-
-
0031962461
-
Nonsyndromic autosomal dominant sensorineural hearing loss: Audiologic analysis of a pedigree linked to DFNA2
-
Kunst, H., Marres, H., Huygen, P.L., Ensink, R., Van Camp, G., Van Hauwe, P., Willems, P. and Cremers, C.W.J.R. (1998) Nonsyndromic autosomal dominant sensorineural hearing loss: audiologic analysis of a pedigree linked to DFNA2. Laryngoscope, 108, 74-79.
-
(1998)
Laryngoscope
, vol.108
, pp. 74-79
-
-
Kunst, H.1
Marres, H.2
Huygen, P.L.3
Ensink, R.4
Van Camp, G.5
Van Hauwe, P.6
Willems, P.7
Cremers, C.W.J.R.8
-
35
-
-
10144253124
-
Positional cloning of a gene involved in hereditary multiple exostoses
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Wuyts, W., Van Hul, W., Wauters, J., Nemtsova, M., Reyniers, E., Van Hul, E.V., De Boulle, K., de Vries, B.B., Hendrickx, J., Herrygers, I., Bossuyt, P., Balemans, W., Fransen, E., Vits, L., Coucke, P., Nowak, N.J., Shows, T.B., Mallet, L., van den Ouweland, A.M., McGaughran, J., Halley, D.J. and Willems, P.J. (1996) Positional cloning of a gene involved in hereditary multiple exostoses. Hum. Mol. Genet., 5, 1547-1557.
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(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1547-1557
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Wuyts, W.1
Van Hul, W.2
Wauters, J.3
Nemtsova, M.4
Reyniers, E.5
Van Hul, E.V.6
De Boulle, K.7
De Vries, B.B.8
Hendrickx, J.9
Herrygers, I.10
Bossuyt, P.11
Balemans, W.12
Fransen, E.13
Vits, L.14
Coucke, P.15
Nowak, N.J.16
Shows, T.B.17
Mallet, L.18
Van Den Ouweland, A.M.19
McGaughran, J.20
Halley, D.J.21
Willems, P.J.22
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