-
3
-
-
0026020023
-
Familial progressive vestibulocochlear dysfunction
-
Verhagen W.I.M., and Huygen P.L.M. Familial progressive vestibulocochlear dysfunction. Arch Neurol 48 (1991) 262
-
(1991)
Arch Neurol
, vol.48
, pp. 262
-
-
Verhagen, W.I.M.1
Huygen, P.L.M.2
-
4
-
-
0026439315
-
A new autosomal dominant syndrome of idiopathic progressive vestibulo-cochlear dysfunction with middle-age onset
-
Verhagen W.I.M., Huygen P.L.M., and Bles W. A new autosomal dominant syndrome of idiopathic progressive vestibulo-cochlear dysfunction with middle-age onset. Acta Otolaryngol 112 (1992) 899-906
-
(1992)
Acta Otolaryngol
, vol.112
, pp. 899-906
-
-
Verhagen, W.I.M.1
Huygen, P.L.M.2
Bles, W.3
-
5
-
-
0343081060
-
Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9)
-
Verhagen W.I.M., Bom S.J.H., Huygen P.L.M., et al. 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
-
6
-
-
0035698234
-
Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family
-
Verhagen W.I.M., Bom S.J.M., Fransen E., et al. Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family. Clin Otolaryngol Allied Sci 26 (2001) 477-483
-
(2001)
Clin Otolaryngol Allied Sci
, vol.26
, pp. 477-483
-
-
Verhagen, W.I.M.1
Bom, S.J.M.2
Fransen, E.3
-
7
-
-
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., et al. 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
-
8
-
-
0032886813
-
Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9
-
Bom S.J.H., Kemperman M.H., De Kok Y.J.M., et al. Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9. Laryngoscope 109 (1999) 1525-1530
-
(1999)
Laryngoscope
, vol.109
, pp. 1525-1530
-
-
Bom, S.J.H.1
Kemperman, M.H.2
De Kok, Y.J.M.3
-
9
-
-
0037334701
-
Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH
-
Bom S.J.H., Kemperman M.H., Huygen P.L.M., et al. Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH. Ann Otol Rhinol Laryngol 112 (2003) 280-286
-
(2003)
Ann Otol Rhinol Laryngol
, vol.112
, pp. 280-286
-
-
Bom, S.J.H.1
Kemperman, M.H.2
Huygen, P.L.M.3
-
10
-
-
18044401372
-
Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. Hum Mutat 2001;17:351
-
Kamarinos M., McGill J., Lynch M., and Dahl H. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. Hum Mutat 2001;17:351. Erratum in: Hum Mutat 18 (2001) 547-548
-
(2001)
Erratum in: Hum Mutat
, vol.18
, pp. 547-548
-
-
Kamarinos, M.1
McGill, J.2
Lynch, M.3
Dahl, H.4
-
11
-
-
0035180714
-
Hereditary otovestibular dysfunction and Ménière's disease in a large Belgian family is caused by a missense mutation in the COCH gene
-
Verstreken M., Declau F., Wuyts F.L., et al. Hereditary otovestibular dysfunction and Ménière's disease in a 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
-
12
-
-
0036369149
-
DFNA9/COCH and its phenotype
-
Cremers C.W.R.J., and Smith R.J.H. (Eds), Karger, Adv Otorhinolaryngology Basel Its clinical presentations.
-
Kemperman M.H., Bom S.J.H., Lemaire F.X., et al. DFNA9/COCH and its phenotype. In: Cremers C.W.R.J., and Smith R.J.H. (Eds). Genetic hearing impairment 61 (2002), Karger, Adv Otorhinolaryngology Basel 66-72 Its clinical presentations.
-
(2002)
Genetic hearing impairment
, vol.61
, pp. 66-72
-
-
Kemperman, M.H.1
Bom, S.J.H.2
Lemaire, F.X.3
-
13
-
-
24944480248
-
Audiometric, vestibular and genetic aspects of a DFNA9 family with a G88E COCH mutation
-
Kemperman M.H., De Leenheer E.M.R., Huygen P.L.M., et al. 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.R.2
Huygen, P.L.M.3
-
14
-
-
10744230791
-
Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH). Longitudinal analyses in a Belgian family
-
Lemaire F.X., Feenstra L., Huygen P.L.M., et al. Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH). Longitudinal analyses in a Belgian family. Otol Neurotol 24 (2003) 743-748
-
(2003)
Otol Neurotol
, vol.24
, pp. 743-748
-
-
Lemaire, F.X.1
Feenstra, L.2
Huygen, P.L.M.3
-
15
-
-
24944452590
-
Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9). An analysis in 74 mutation carriers
-
Bischoff A.M.L.C., Huygen P.L.M., Kemperman M.H., et al. Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9). An analysis in 74 mutation carriers. Otol Neurotol 26 (2005) 918-925
-
(2005)
Otol Neurotol
, vol.26
, pp. 918-925
-
-
Bischoff, A.M.L.C.1
Huygen, P.L.M.2
Kemperman, M.H.3
-
16
-
-
17344363707
-
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
-
Robertson N.G., Lu L., Heller S., et al. 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
-
17
-
-
0032837049
-
High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene
-
Fransen E., Verstreken M., Verhagen W.I.M., et al. High prevalence of symptoms of Meniere'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
-
18
-
-
10744220263
-
Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleovestibular dysfunction, but not of Meniere's disease
-
Usami S., Takahashi K., Yuge I., et al. Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleovestibular 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
-
19
-
-
1442308472
-
A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss
-
Nagy I., Horvath M., Trexler M., et al. 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
-
20
-
-
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
-
Street V.A., Kallman J.C., Robertson N.G., et al. 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 Med Genet A 139 (2005) 86-95
-
(2005)
Am J Med Genet A
, vol.139
, pp. 86-95
-
-
Street, V.A.1
Kallman, J.C.2
Robertson, N.G.3
-
21
-
-
33746624298
-
Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing disorder DFNA9
-
Collin R.W.J., Pauw R.J., Schoots J., et al. Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing disorder DFNA9. Am J Med Genet A 140A (2006) 1791-1794
-
(2006)
Am J Med Genet A
, vol.140 A
, pp. 1791-1794
-
-
Collin, R.W.J.1
Pauw, R.J.2
Schoots, J.3
-
22
-
-
0035476697
-
NMR structure of the LCCL domain and implications for DFNA9 deafness disorder
-
Liepinsh E., Trexler M., Kaikkonen A., et al. 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
-
23
-
-
0035888616
-
Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9
-
Robertson N.G., Resendes B.L., Lin J.S., et al. Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9. Hum Mol Genet 10 (2001) 2493-2500
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2493-2500
-
-
Robertson, N.G.1
Resendes, B.L.2
Lin, J.S.3
-
24
-
-
33645120818
-
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction
-
Robertson N.G., Cremers C.W.R.J., Huygen P.L.M., et al. Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. Hum Mol Genet 15 (2006) 1071-1085
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1071-1085
-
-
Robertson, N.G.1
Cremers, C.W.R.J.2
Huygen, P.L.M.3
-
25
-
-
33646826656
-
Cochleovestibular and ocular features in a Dutch DFNA11 family
-
Bischoff A.M.L.C., Pennings R.J.E., Huygen P.L.M., et al. 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.L.C.1
Pennings, R.J.E.2
Huygen, P.L.M.3
-
26
-
-
70350542120
-
A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation
-
Fransen E., Verstreken M., Bom S.J.H., et al. A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation. J Med Genet 38 (2001) 61-65
-
(2001)
J Med Genet
, vol.38
, pp. 61-65
-
-
Fransen, E.1
Verstreken, M.2
Bom, S.J.H.3
-
27
-
-
20044371983
-
Proteomics reveal cochlin deposits associated with glaucomatous trabecular meshwork
-
Bhattacharya S.K., Rockwood E.J., Smith S.D., et al. Proteomics reveal cochlin deposits associated with glaucomatous trabecular meshwork. J Biol Chem 280 (2005) 6080-6084
-
(2005)
J Biol Chem
, vol.280
, pp. 6080-6084
-
-
Bhattacharya, S.K.1
Rockwood, E.J.2
Smith, S.D.3
-
28
-
-
18044397506
-
Cochlin deposits in the trabecular meshwork of the glaucomatous DBA/2J mouse
-
Bhattacharya S.K., Annangudi S.P., Salomon R.G., et al. Cochlin deposits in the trabecular meshwork of the glaucomatous DBA/2J mouse. Exp Eye Res 80 (2005) 741-744
-
(2005)
Exp Eye Res
, vol.80
, pp. 741-744
-
-
Bhattacharya, S.K.1
Annangudi, S.P.2
Salomon, R.G.3
-
29
-
-
33846786948
-
Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W
-
Pauw R.J., Collin R.W.J., Huygen P.L.M., et al. Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W. Audiology & Neurotology 12 (2007) 77-84
-
(2007)
Audiology & Neurotology
, vol.12
, pp. 77-84
-
-
Pauw, R.J.1
Collin, R.W.J.2
Huygen, P.L.M.3
-
30
-
-
0026229783
-
Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds
-
Khetarpal U., Schuknecht H.F., Gacek R.R., and Holmes L.B. Autosomal dominant sensorineural hearing loss. Pedigrees, audiologic findings, and temporal bone findings in two kindreds. Arch Otolaryngol Head Neck Surg 117 (1991) 1032-1042
-
(1991)
Arch Otolaryngol Head Neck Surg
, vol.117
, pp. 1032-1042
-
-
Khetarpal, U.1
Schuknecht, H.F.2
Gacek, R.R.3
Holmes, L.B.4
-
31
-
-
0027475671
-
Autosomal dominant sensorineural hearing loss: further temporal bone findings
-
Khetarpal U. Autosomal dominant sensorineural hearing loss: further temporal bone findings. Arch Otolaryngol Head Neck Surg 119 (1993) 106-108
-
(1993)
Arch Otolaryngol Head Neck Surg
, vol.119
, pp. 106-108
-
-
Khetarpal, U.1
-
32
-
-
0033654521
-
Histopathology of the inner ear in DFNA9
-
Kitamura K., and Steel K.P. (Eds), Karger, Adv Otorhinolaryngology Basel
-
Merchant S.N., Linthicum F.H., and Nadol J.B. Histopathology of the inner ear in DFNA9. In: Kitamura K., and Steel K.P. (Eds). Genetics in otorhinolaryngology 56 (2000), Karger, Adv Otorhinolaryngology Basel 212-217
-
(2000)
Genetics in otorhinolaryngology
, vol.56
, pp. 212-217
-
-
Merchant, S.N.1
Linthicum, F.H.2
Nadol, J.B.3
-
33
-
-
0033883414
-
DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear
-
Khetarpal U. 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
-
34
-
-
31344465261
-
Focus on molecules: cochlin
-
Bhattacharya S.K. Focus on molecules: cochlin. Exp Eye Res 82 (2006) 355-356
-
(2006)
Exp Eye Res
, vol.82
, pp. 355-356
-
-
Bhattacharya, S.K.1
-
35
-
-
0014331191
-
Anterior corneal mosaic
-
Bron A.J. Anterior corneal mosaic. Br J Ophthalmol 52 (1968) 659-669
-
(1968)
Br J Ophthalmol
, vol.52
, pp. 659-669
-
-
Bron, A.J.1
-
36
-
-
0014596612
-
Anterior corneal mosaic. Further observations
-
Bron A.J., and Tripathi R.C. Anterior corneal mosaic. Further observations. Br J Ophthalmol 53 (1969) 760-764
-
(1969)
Br J Ophthalmol
, vol.53
, pp. 760-764
-
-
Bron, A.J.1
Tripathi, R.C.2
-
38
-
-
0014241939
-
Photography of corneal pattern
-
Bron A.J. Photography of corneal pattern. Arch Ophthalmol 79 (1968) 119-120
-
(1968)
Arch Ophthalmol
, vol.79
, pp. 119-120
-
-
Bron, A.J.1
-
39
-
-
0035064651
-
The architecture of the corneal stroma
-
Bron A.J. The architecture of the corneal stroma. Br J Ophthalmol 85 (2001) 379-381
-
(2001)
Br J Ophthalmol
, vol.85
, pp. 379-381
-
-
Bron, A.J.1
-
40
-
-
0014382841
-
Schweitzer's polygonal fluorescein pattern of the cornea. A clinical study and comparison with an applanation-prism-net-phenomenon
-
Norn M.S. Schweitzer's polygonal fluorescein pattern of the cornea. A clinical study and comparison with an applanation-prism-net-phenomenon. Acta Ophthalmol 46 (1968) 700-711
-
(1968)
Acta Ophthalmol
, vol.46
, pp. 700-711
-
-
Norn, M.S.1
|