-
1
-
-
0037221588
-
Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues
-
S. Abe, T. Katagiri, A. Saito-Hisaminato, S. Usami, Y. Inoue, T. Tsunoda and Y. Nakamura, Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues, Am J Hum Genet 72 (2003), 73-82.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 73-82
-
-
Abe, S.1
Katagiri, T.2
Saito-Hisaminato, A.3
Usami, S.4
Inoue, Y.5
Tsunoda, T.6
Nakamura, Y.7
-
2
-
-
0034937052
-
Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese
-
J. Akita, S. Abe, H. Shinkawa, W.J. Kimberling and S. Usami, Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese, J Hum Genet 46 (2001), 355-361.
-
(2001)
J Hum Genet
, vol.46
, pp. 355-361
-
-
Akita, J.1
Abe, S.2
Shinkawa, H.3
Kimberling, W.J.4
Usami, S.5
-
3
-
-
10744221846
-
A novel mutation identified in the DFNA5 gene in a Dutch family: A clinical and genetic evaluation
-
A.M. Bischoff, M.W. Luijendijk, P.L. Huygen, G. van Duijnhoven, E.M. DeLeenheer, G.G. Oudesluijs, L. Van Laer, F.P. Cremers, C.W. Cremers and H. Kremer, A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation, Audiol Neurootol 9 (2004), 34-46.
-
(2004)
Audiol Neurootol
, vol.9
, pp. 34-46
-
-
Bischoff, A.M.1
Luijendijk, M.W.2
Huygen, P.L.3
van Duijnhoven, G.4
DeLeenheer, E.M.5
Oudesluijs, G.G.6
Van Laer, L.7
Cremers, F.P.8
Cremers, C.W.9
Kremer, H.10
-
4
-
-
33646826656
-
Cochleovestibular and ocular features in a Dutch DFNA11 family
-
A.M. Bischoff, R.J. Pennings, P.L. Huygen, M.W. Luijendijk, E. Van Wijk, J.R. Cruysberg, H. Kremer and C.W. Cremers, Cochleovestibular and ocular features in a Dutch DFNA11 family, Otol Neurotol 27 (2006), 323-331.
-
(2006)
Otol Neurotol
, vol.27
, pp. 323-331
-
-
Bischoff, A.M.1
Pennings, R.J.2
Huygen, P.L.3
Luijendijk, M.W.4
Van Wijk, E.5
Cruysberg, J.R.6
Kremer, H.7
Cremers, C.W.8
-
5
-
-
16644362496
-
Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11)
-
H. Bolz, S.S. Bolz, G. Schade, C. Kothe, G. Mohrmann, M. Hess and A. Gal, Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11), Hum Mutat 24 (2004), 274-275.
-
(2004)
Hum Mutat
, vol.24
, pp. 274-275
-
-
Bolz, H.1
Bolz, S.S.2
Schade, G.3
Kothe, C.4
Mohrmann, G.5
Hess, M.6
Gal, A.7
-
6
-
-
0032929077
-
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects
-
Y.J. de Kok, S.J. Bom, T.M. Brunt, M.H. Kemperman, E. van Beusekom, S.D. van der Velde-Visser, N.G. Robertson, C.C. Morton, P.L. Huygen, W.I. Verhagen, H.G. Brunner, C.W. Cremers and F.P. Cremers, 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.1
Bom, S.J.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.9
Verhagen, W.I.10
Brunner, H.G.11
Cremers, C.W.12
Cremers, F.P.13
-
7
-
-
0036123214
-
Longitudinal and cross-sectional phenotype analysis in a new, large DFNA2/KCNQ4 family
-
E.M. DeLeenheer, P.L. Huygen, P.J. Coucke, R.J. Admiraal, G. van Camp and C.W. Cremers, Longitudinal and cross-sectional phenotype analysis in a new, large DFNA2/KCNQ4 family, Ann Otol Rhinol Laryngol 111 (2002), 267-274.
-
(2002)
Ann Otol Rhinol Laryngol
, vol.111
, pp. 267-274
-
-
DeLeenheer, E.M.1
Huygen, P.L.2
Coucke, P.J.3
Admiraal, R.J.4
van Camp, G.5
Cremers, C.W.6
-
8
-
-
0036362763
-
Clinical features of DFNA5
-
E.M. DeLeenheer, D.A. van Zuijlen, L. Van Laer, G. Van Camp, P.L. Huygen, E.H. Huizing and C.W. Cremers, Clinical features of DFNA5, Adv Otorhinolaryngol 61 (2002), 53-59.
-
(2002)
Adv Otorhinolaryngol
, vol.61
, pp. 53-59
-
-
DeLeenheer, E.M.1
van Zuijlen, D.A.2
Van Laer, L.3
Van Camp, G.4
Huygen, P.L.5
Huizing, E.H.6
Cremers, C.W.7
-
9
-
-
33645990900
-
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11)
-
F. Di Leva, P. D'Adamo, M.V. Cubellis, A. D'Eustacchio, M. Errichiello, C. Saulino, G. Auletta, P. Giannini, F. Donaudy, A. Ciccodicola, P. Gasparini, A. Franze and E. Marciano, Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11), Audiol Neurootol 11 (2006), 157-164.
-
(2006)
Audiol Neurootol
, vol.11
, pp. 157-164
-
-
Di Leva, F.1
D'Adamo, P.2
Cubellis, M.V.3
D'Eustacchio, A.4
Errichiello, M.5
Saulino, C.6
Auletta, G.7
Giannini, P.8
Donaudy, F.9
Ciccodicola, A.10
Gasparini, P.11
Franze, A.12
Marciano, E.13
-
10
-
-
12144286156
-
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)
-
F. Donaudy, R. Snoeckx, M. Pfister, H.P. Zenner, N. Blin, M. DiStazio, A. Ferrara, C. Lanzara, R. Ficarella, F. Declau, C.M. Pusch, P. Nurnberg, S. Melchionda, L. Zelante, E. Ballana, X. Estivill, G. Van Camp, P. Gasparini and A. Savoia, Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4), Am J Hum Genet 74 (2004), 770-776.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 770-776
-
-
Donaudy, F.1
Snoeckx, R.2
Pfister, M.3
Zenner, H.P.4
Blin, N.5
DiStazio, M.6
Ferrara, A.7
Lanzara, C.8
Ficarella, R.9
Declau, F.10
Pusch, C.M.11
Nurnberg, P.12
Melchionda, S.13
Zelante, L.14
Ballana, E.15
Estivill, X.16
Van Camp, G.17
Gasparini, P.18
Savoia, A.19
-
11
-
-
32944469631
-
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation
-
F. Donaudy, L. Zheng, R. Ficarella, E. Ballana, M. Carella, S. Melchionda, X. Estivill, J.R. Bartles and P. Gasparini, Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation, J Med Genet 43 (2006), 157-161.
-
(2006)
J Med Genet
, vol.43
, pp. 157-161
-
-
Donaudy, F.1
Zheng, L.2
Ficarella, R.3
Ballana, E.4
Carella, M.5
Melchionda, S.6
Estivill, X.7
Bartles, J.R.8
Gasparini, P.9
-
12
-
-
0034868410
-
Audiologic aspects of the search for DFNA20: A gene causing late-onset, progressive, sensorineural hearing loss
-
J.L. Elfenbein, R.A. Fisher, S. Wei, R.J. Morell, C. Stewart, T.B. Friedman and K. Friderici, Audiologic aspects of the search for DFNA20: a gene causing late-onset, progressive, sensorineural hearing loss, Ear Hear 22 (2001), 279-288.
-
(2001)
Ear Hear
, vol.22
, pp. 279-288
-
-
Elfenbein, J.L.1
Fisher, R.A.2
Wei, S.3
Morell, R.J.4
Stewart, C.5
Friedman, T.B.6
Friderici, K.7
-
13
-
-
0014333011
-
-
T.V.U.H.D.S. Group, Dominantly inherited low-frequency hearing loss, Arch Otolaryngol 88 (1968), 242-250.
-
T.V.U.H.D.S. Group, Dominantly inherited low-frequency hearing loss, Arch Otolaryngol 88 (1968), 242-250.
-
-
-
-
14
-
-
0036340374
-
Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss
-
S. Iwasaki, D. Harada, S. Usami, M. Nagura, T. Takeshita and T. Hoshino, Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss, Arch Otolaryngol Head Neck Surg 128 (2002), 913-917.
-
(2002)
Arch Otolaryngol Head Neck Surg
, vol.128
, pp. 913-917
-
-
Iwasaki, S.1
Harada, D.2
Usami, S.3
Nagura, M.4
Takeshita, T.5
Hoshino, T.6
-
15
-
-
24944480248
-
Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation
-
M.H. Kemperman, E.M. De Leenheer, P.L. Huygen, G. van Duijnhoven, C.C. Morton, N.G. Robertson, F.P. Cremers, H. Kremer and C.W. Cremers, Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation, Otol Neurotol 26 (2005), 926-933.
-
(2005)
Otol Neurotol
, vol.26
, pp. 926-933
-
-
Kemperman, M.H.1
De Leenheer, E.M.2
Huygen, P.L.3
van Duijnhoven, G.4
Morton, C.C.5
Robertson, N.G.6
Cremers, F.P.7
Kremer, H.8
Cremers, C.W.9
-
16
-
-
1542378078
-
A Dutch family with hearing loss linked to the DFNA20/ 26 locus: Longitudinal analysis of hearing impairment
-
M.H. Kemperman, E.M. DeLeenheer, P.L. Huygen, E. van Wijk, G. van Duijnhoven, F.P. Cremers, H. Kremer and C.W. Cremers, A Dutch family with hearing loss linked to the DFNA20/ 26 locus: longitudinal analysis of hearing impairment, Arch Otolaryngol Head Neck Surg 130 (2004), 281-288.
-
(2004)
Arch Otolaryngol Head Neck Surg
, vol.130
, pp. 281-288
-
-
Kemperman, M.H.1
DeLeenheer, E.M.2
Huygen, P.L.3
van Wijk, E.4
van Duijnhoven, G.5
Cremers, F.P.6
Kremer, H.7
Cremers, C.W.8
-
17
-
-
0033883414
-
DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear
-
U. Khetarpal, DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear, Laryngoscope 110 (2000), 1379-1384.
-
(2000)
Laryngoscope
, vol.110
, pp. 1379-1384
-
-
Khetarpal, U.1
-
18
-
-
0034092944
-
The phenotype of DFNA13/COL11A2: Nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment
-
H. Kunst, C. Huybrechts, H. Marres, P. Huygen, G. Van Camp and C. Cremers, The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment, Am J Otol 21 (2000), 181-187.
-
(2000)
Am J Otol
, vol.21
, pp. 181-187
-
-
Kunst, H.1
Huybrechts, C.2
Marres, H.3
Huygen, P.4
Van Camp, G.5
Cremers, C.6
-
19
-
-
0033065816
-
Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): Statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions
-
H. Kunst, H. Marres, P. Huygen, G. Van Camp, F. Joosten and C. Cremers, Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions, Audiology 38 (1999), 165-173.
-
(1999)
Audiology
, vol.38
, pp. 165-173
-
-
Kunst, H.1
Marres, H.2
Huygen, P.3
Van Camp, G.4
Joosten, F.5
Cremers, C.6
-
20
-
-
0031746109
-
Further characterization of the DFNA1 audiovestibular phenotype
-
A.K. Lalwani, R.K. Jackler, R.W. Sweetow, E.D. Lynch, H. Raventos, J. Morrow, M.C. King and P.E. Leon, Further characterization of the DFNA1 audiovestibular phenotype, Arch Otolaryngol Head Neck Surg 124 (1998), 699-702.
-
(1998)
Arch Otolaryngol Head Neck Surg
, vol.124
, pp. 699-702
-
-
Lalwani, A.K.1
Jackler, R.K.2
Sweetow, R.W.3
Lynch, E.D.4
Raventos, H.5
Morrow, J.6
King, M.C.7
Leon, P.E.8
-
21
-
-
0030917967
-
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2
-
H. Marres, M. van Ewijk, P. Huygen, H. Kunst, G. van Camp, P. Coucke, P. Willems and C. Cremers, 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 (1997), 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
-
22
-
-
26844541189
-
Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss
-
S. Melchionda, M. Bicego, E. Marciano, A. Franze, M. Morgutti, G. Bortone, L. Zelante, M. Carella and P. D'Andrea, Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss, Biochem Biophys Res Commun 337 (2005), 799-805.
-
(2005)
Biochem Biophys Res Commun
, vol.337
, pp. 799-805
-
-
Melchionda, S.1
Bicego, M.2
Marciano, E.3
Franze, A.4
Morgutti, M.5
Bortone, G.6
Zelante, L.7
Carella, M.8
D'Andrea, P.9
-
23
-
-
85047695652
-
Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation
-
F. Mirghomizadeh, B. Bardtke, M. Devoto, M. Pfister, J. Oeken, E. Konig, E. Vitale, A. Riccio, A. DeRienzo, H.P. Zenner and N. Blin, Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation, Eur J Hum Genet 10 (2002), 95-99.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 95-99
-
-
Mirghomizadeh, F.1
Bardtke, B.2
Devoto, M.3
Pfister, M.4
Oeken, J.5
Konig, E.6
Vitale, E.7
Riccio, A.8
DeRienzo, A.9
Zenner, H.P.10
Blin, N.11
-
24
-
-
1442308472
-
A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss
-
I. Nagy, M. Horvath, M. Trexler, G. Repassy and L. Patthy, A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss, J Med Genet 41 (2004), e9.
-
(2004)
J Med Genet
, vol.41
-
-
Nagy, I.1
Horvath, M.2
Trexler, M.3
Repassy, G.4
Patthy, L.5
-
25
-
-
33846786948
-
Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W
-
R.J. Pauw, R.W. Collin, P.L. Huygen, L.H. Hoefsloot, H. Kremer and C.W. Cremers, Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W, Audiol Neurootol 12 (2007), 77-84.
-
(2007)
Audiol Neurootol
, vol.12
, pp. 77-84
-
-
Pauw, R.J.1
Collin, R.W.2
Huygen, P.L.3
Hoefsloot, L.H.4
Kremer, H.5
Cremers, C.W.6
-
26
-
-
34249030210
-
Phenotype description of a novel DFNA9/COCH mutation, I109T
-
R.J. Pauw, P.L. Huygen, R.W. Collin, J.R. Cruysberg, L.H. Hoefsloot, H. Kremer and C.W. Cremers, Phenotype description of a novel DFNA9/COCH mutation, I109T, Ann Otol Rhinol Laryngol 116 (2007), 349-357.
-
(2007)
Ann Otol Rhinol Laryngol
, vol.116
, pp. 349-357
-
-
Pauw, R.J.1
Huygen, P.L.2
Collin, R.W.3
Cruysberg, J.R.4
Hoefsloot, L.H.5
Kremer, H.6
Cremers, C.W.7
-
27
-
-
0037385082
-
Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1)
-
R.J. Pennings, S.J. Bom, K. Cryns, K. Flothmann, P.L. Huygen, H. Kremer, G. Van Camp and C.W. Cremers, Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1), Arch Otolaryngol Head Neck Surg 129 (2003), 421-426.
-
(2003)
Arch Otolaryngol Head Neck Surg
, vol.129
, pp. 421-426
-
-
Pennings, R.J.1
Bom, S.J.2
Cryns, K.3
Flothmann, K.4
Huygen, P.L.5
Kremer, H.6
Van Camp, G.7
Cremers, C.W.8
-
28
-
-
33744455727
-
A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation
-
R.F. Plantinga, A.P. de Brouwer, P.L. Huygen, H.P. Kunst, H. Kremer and C.W. Cremers, A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation, J Assoc Res Otolaryngol 7 (2006), 173-181.
-
(2006)
J Assoc Res Otolaryngol
, vol.7
, pp. 173-181
-
-
Plantinga, R.F.1
de Brouwer, A.P.2
Huygen, P.L.3
Kunst, H.P.4
Kremer, H.5
Cremers, C.W.6
-
29
-
-
33645115515
-
A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction
-
V.A. Street, J.C. Kallman, N.G. Robertson, S.F. Kuo, C.C. Morton and J.O. Phillips, A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction, Am J Hum Genet A 139 (2005), 86-95.
-
(2005)
Am J Hum Genet A
, vol.139
, pp. 86-95
-
-
Street, V.A.1
Kallman, J.C.2
Robertson, N.G.3
Kuo, S.F.4
Morton, C.C.5
Phillips, J.O.6
-
30
-
-
0036162703
-
Phenotype of DFNA11: A nonsyndromic hearing loss caused by a myosin VIIA mutation
-
Y. Tamagawa, K. Ishikawa, K. Ishikawa, T. Ishida, K. Kitamura, S. Makino, T. Tsuru and K. Ichimura, Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation, Laryngoscope 112 (2002), 292-297.
-
(2002)
Laryngoscope
, vol.112
, pp. 292-297
-
-
Tamagawa, Y.1
Ishikawa, K.2
Ishikawa, K.3
Ishida, T.4
Kitamura, K.5
Makino, S.6
Tsuru, T.7
Ichimura, K.8
-
31
-
-
23044507046
-
-
I. Todt, H.C. Hennies, D. Basta and A. Ernst, Vestibular dysfunction of patients with mutations of Connexin 26, Neuroreport 16 (2005), 1179-1181.
-
I. Todt, H.C. Hennies, D. Basta and A. Ernst, Vestibular dysfunction of patients with mutations of Connexin 26, Neuroreport 16 (2005), 1179-1181.
-
-
-
-
32
-
-
30144435888
-
Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment
-
T. Toth, M. Pfister, H.P. Zenner and I. Sziklai, Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment, Int J Pediatr Otorhinolaryngol 70 (2006), 201-206.
-
(2006)
Int J Pediatr Otorhinolaryngol
, vol.70
, pp. 201-206
-
-
Toth, T.1
Pfister, M.2
Zenner, H.P.3
Sziklai, I.4
-
33
-
-
10744220263
-
Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease
-
S. Usami, K. Takahashi, I. Yuge, A. Ohtsuka, A. Namba, S. Abe, E. Fransen, L. Patthy, G. Otting and G. Van Camp, 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
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