-
1
-
-
0035888652
-
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
-
Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM (2001) Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 10:2501-2508
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2501-2508
-
-
Bespalova, I.N.1
Van Camp, G.2
Bom, S.J.3
Brown, D.J.4
Cryns, K.5
DeWan, A.T.6
Erson, A.E.7
Flothmann, K.8
Kunst, H.P.9
Kurnool, P.10
Sivakumaran, T.A.11
Cremers, C.W.12
Leal, S.M.13
Burmeister, M.14
Lesperance, M.M.15
-
2
-
-
0035158639
-
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
-
Bolz H, von Brederlow B, Ramirez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedo Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 27:108-112
-
(2001)
Nat Genet
, vol.27
, pp. 108-112
-
-
Bolz, H.1
Von Brederlow, B.2
Ramirez, A.3
Bryda, E.C.4
Kutsche, K.5
Nothwang, H.G.6
Seeliger, M.7
Del C-Salcedo Cabrera, M.8
Vila, M.C.9
Molina, O.P.10
Gal, A.11
Kubisch, C.12
-
3
-
-
0035168168
-
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
-
Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CR, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu XZ, Wistow G, Smith RJ, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Genet 68:26-37
-
(2001)
Am J Genet
, vol.68
, pp. 26-37
-
-
Bork, J.M.1
Peters, L.M.2
Riazuddin, S.3
Bernstein, S.L.4
Ahmed, Z.M.5
Ness, S.L.6
Polomeno, R.7
Ramesh, A.8
Schloss, M.9
Srisailpathy, C.R.10
Wayne, S.11
Bellman, S.12
Desmukh, D.13
Ahmed, Z.14
Khan, S.N.15
Kaloustian, V.M.16
Li, X.C.17
Lalwani, A.18
Riazuddin, S.19
Bitner-Glindzicz, M.20
Nance, W.E.21
Liu, X.Z.22
Wistow, G.23
Smith, R.J.24
Griffith, A.J.25
Wilcox, E.R.26
Friedman, T.B.27
Morell, R.J.28
more..
-
4
-
-
0033037730
-
Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl cotransporter
-
Delpire E, Lu J, England R, Dull C, Thorne T (1999) Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl cotransporter. Nat Genet 22:192-195
-
(1999)
Nat Genet
, vol.22
, pp. 192-195
-
-
Delpire, E.1
Lu, J.2
England, R.3
Dull, C.4
Thorne, T.5
-
5
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
6
-
-
0032846415
-
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
-
Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P (1999) Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 23:16-18
-
(1999)
Nat Genet
, vol.23
, pp. 16-18
-
-
Grifa, A.1
Wagner, C.A.2
D'Ambrosio, L.3
Melchionda, S.4
Bernardi, F.5
Lopez-Bigas, N.6
Rabionet, R.7
Arbones, M.8
Monica, M.D.9
Estivill, X.10
Zelante, L.11
Lang, F.12
Gasparini, P.13
-
7
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (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
-
8
-
-
0033524936
-
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
-
Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ (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
Lutjohann, B.4
El-Amraoui, A.5
Marlin, S.6
Petit, C.7
Jentsch, T.J.8
-
9
-
-
0036510053
-
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
-
Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ (2002) Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet 30:277-284
-
(2002)
Nat Genet
, vol.30
, pp. 277-284
-
-
Kurima, K.1
Peters, L.M.2
Yang, Y.3
Riazuddin, S.4
Ahmed, Z.M.5
Naz, S.6
Arnaud, D.7
Drury, S.8
Mo, J.9
Makishima, T.10
Ghosh, M.11
Menon, P.S.12
Deshmukh, D.13
Oddoux, C.14
Ostrer, H.15
Khan, S.16
Riazuddin, S.17
Deininger, P.L.18
Hampton, L.L.19
Sullivan, S.L.20
Battey J.F., Jr.21
Keats, B.J.22
Wilcox, E.R.23
Friedman, T.B.24
Griffith, A.J.25
more..
-
10
-
-
0033764817
-
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9
-
Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN (2000) Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 67:1121-1128
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1121-1128
-
-
Lalwani, A.K.1
Goldstein, J.A.2
Kelley, M.J.3
Luxford, W.4
Castelein, C.M.5
Mhatre, A.N.6
-
11
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
12
-
-
0026695288
-
The gene for an inherited form of deafness maps to chromosome 5q31
-
Leon PE, Raventos H, Lynch E, Morrow J, King MC (1992) The gene for an inherited form of deafness maps to chromosome 5q31. Proc Natl Acad Sci U S A 89:5181-5184
-
(1992)
Proc Natl Acad Sci U S A
, vol.89
, pp. 5181-5184
-
-
Leon, P.E.1
Raventos, H.2
Lynch, E.3
Morrow, J.4
King, M.C.5
-
13
-
-
0031278277
-
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
-
Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD (1997) Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 17:268-269
-
(1997)
Nat Genet
, vol.17
, pp. 268-269
-
-
Liu, X.Z.1
Walsh, J.2
Tamagawa, Y.3
Kitamura, K.4
Nishizawa, M.5
Steel, K.P.6
Brown, S.D.7
-
14
-
-
0030707797
-
Nonsyndromic deafness DFNA1 associated with mutation of the human homolog of the Drosophila gene diaphanous
-
Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC (1997) Nonsyndromic deafness DFNA1 associated with mutation of the 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
-
15
-
-
0032755733
-
Mutations in COL11a2 cause non-syndromic hearing loss (DFNA13)
-
McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ (1999) Mutations in COL11a2 cause non-syndromic hearing loss (DFNA13). Nat Genet 23:413-419
-
(1999)
Nat Genet
, vol.23
, pp. 413-419
-
-
McGuirt, W.T.1
Prasad, S.D.2
Griffith, A.J.3
Kunst, H.P.4
Green, G.E.5
Shpargel, K.B.6
Runge, C.7
Huybrechts, C.8
Mueller, R.F.9
Lynch, E.10
King, M.C.11
Brunner, H.G.12
Cremers, C.W.13
Takanosu, M.14
Li, S.W.15
Arita, M.16
Mayne, R.17
Prockop, D.J.18
Van Camp, G.19
Smith, R.J.20
more..
-
16
-
-
0034887805
-
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss
-
Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P (2001) MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet 69:635-640
-
(2001)
Am J Hum Genet
, vol.69
, pp. 635-640
-
-
Melchionda, S.1
Ahituv, N.2
Bisceglia, L.3
Sobe, T.4
Glaser, F.5
Rabionet, R.6
Arbones, M.L.7
Notarangelo, A.8
Di Iorio, E.9
Carella, M.10
Zelante, L.11
Estivill, X.12
Avraham, K.B.13
Gasparini, P.14
-
17
-
-
17344363707
-
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
-
Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB Jr, Miyamoto RT, Linthicum FH Jr, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG (1998) Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet 20:299-303
-
(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
-
18
-
-
7144257859
-
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
-
Vahava O, Morell R, Lynch ED, Weiss S, Kagan ME, Ahituv N, Morrow JE, Lee MK, Skvorak AB, Morton CC, Blumenfeld A, Frydman M, Friedman TB, King MC, Avraham KB (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
-
19
-
-
17344371515
-
Nonsyndromic hearing impairment is associated with a mutation in DFNA5
-
Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G (1998) Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet 20:194-197
-
(1998)
Nat Genet
, vol.20
, pp. 194-197
-
-
Van Laer, L.1
Huizing, E.H.2
Verstreken, M.3
Van Zuijlen, D.4
Wauters, J.G.5
Bossuyt, P.J.6
Van de Heyning, P.7
McGuirt, W.T.8
Smith, R.J.9
Willems, P.J.10
Legan, P.K.11
Richardson, G.P.12
Van Camp, G.13
-
20
-
-
17344364928
-
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment
-
Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G (1998) Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 19:60-62
-
(1998)
Nat 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.J.17
Willems, P.J.18
Govaerts, P.J.19
Van Camp, G.20
more..
-
21
-
-
0035253743
-
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
-
Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ (2001) Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet 10:195-200
-
(2001)
Hum Mol Genet
, vol.10
, pp. 195-200
-
-
Wayne, S.1
Robertson, N.G.2
DeClau, F.3
Chen, N.4
Verhoeven, K.5
Prasad, S.6
Tranebjarg, L.7
Morton, C.C.8
Ryan, A.F.9
Van Camp, G.10
Smith, R.J.11
-
22
-
-
17344373747
-
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
-
Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ (1998) Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 20:370-373
-
(1998)
Nat 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..
-
23
-
-
0035136682
-
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP
-
Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X (2001) Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet 27:201-204
-
(2001)
Nat Genet
, vol.27
, pp. 201-204
-
-
Xiao, S.1
Yu, C.2
Chou, X.3
Yuan, W.4
Wang, Y.5
Bu, L.6
Fu, G.7
Qian, M.8
Yang, J.9
Shi, Y.10
Hu, L.11
Han, B.12
Wang, Z.13
Huang, W.14
Liu, J.15
Chen, Z.16
Zhao, G.17
Kong, X.18
-
24
-
-
0035888617
-
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
-
Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cator T, Griffin A, Fernandez B, Lee MK, King MC (2001) Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 10:2509-2514
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2509-2514
-
-
Young, T.L.1
Ives, E.2
Lynch, E.3
Person, R.4
Snook, S.5
MacLaren, L.6
Cator, T.7
Griffin, A.8
Fernandez, B.9
Lee, M.K.10
King, M.C.11
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