-
1
-
-
0032988989
-
Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant nonsyndromic hearing loss
-
Alloisio N, Morlé L, Bozon M, et al: Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant nonsyndromic hearing loss. Eur J Hum Genet 1999; 7: 255-258.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 255-258
-
-
Alloisio, N.1
Morlé, L.2
Bozon, M.3
-
2
-
-
0032848190
-
Alphatectorin involvement in hearing disabilities: One gene - two phenotypes
-
Balciuniene J, Dahl N, Jalonen P, et al: Alphatectorin involvement in hearing disabilities: one gene - two phenotypes. Hum Genet 1999; 105: 211-216.
-
(1999)
Hum Genet
, vol.105
, pp. 211-216
-
-
Balciuniene, J.1
Dahl, N.2
Jalonen, P.3
-
3
-
-
0030766420
-
A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p
-
Brown MR, Tomek MS, Van Laer L, et al: A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. Am J Hum Genet 1997; 61: 924-927.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 924-927
-
-
Brown, M.R.1
Tomek, M.S.2
Van Laer, L.3
-
4
-
-
56749117987
-
Midfrequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation thataffects an exonic splice enhancer
-
DOI: 10.1038/ejhg.2008.110; Epub ahead of print
-
Collin RW, de Heer AM, Oostrik J, et al: Midfrequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation thataffects an exonic splice enhancer. Eur J Hum Genet 2008, DOI: 10.1038/ejhg.2008.110; Epub ahead of print.
-
(2008)
Eur J Hum Genet
-
-
Collin, R.W.1
de Heer, A.M.2
Oostrik, J.3
-
5
-
-
0036123214
-
Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family
-
De Leenheer EM, Huygen PL, Coucke PJ, et al: Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family. Ann Otol Rhinol Laryngol 2002; 111: 267-274.
-
(2002)
Ann Otol Rhinol Laryngol
, vol.111
, pp. 267-274
-
-
De Leenheer, E.M.1
Huygen, P.L.2
Coucke, P.J.3
-
6
-
-
0034786566
-
A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13
-
Ensink RJ, Huygen PL, Snoeckx RL, et al: A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13. Clin Otolaryngol 2001; 26: 310-316.
-
(2001)
Clin Otolaryngol
, vol.26
, pp. 310-316
-
-
Ensink, R.J.1
Huygen, P.L.2
Snoeckx, R.L.3
-
8
-
-
0031793315
-
A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss
-
Govaerts PJ, De Ceulaer G, Daemers K, et al: A new autosomal-dominant locus (DFNA12) is responsible for a nonsyndromic, midfrequency, prelingual and nonprogressive sensorineural hearing loss. Am J Otol 1998; 19: 718-723.
-
(1998)
Am J Otol
, vol.19
, pp. 718-723
-
-
Govaerts, P.J.1
De Ceulaer, G.2
Daemers, K.3
-
9
-
-
0036362710
-
-
eds, Genetic Hearing Impairment. Adv Otorhinolaryngol, Basel, Karger
-
Govaerts PJ, De Ceulaer G, Daemers K, et al: Clinical presentation of DFNA8-DFNA12; in Cremers CWRJ, Smith RJH (eds): Genetic Hearing Impairment. Adv Otorhinolaryngol, Basel, Karger, 2002, vol 61, pp 60-65.
-
(2002)
Clinical presentation of DFNA8-DFNA12
, vol.61
, pp. 60-65
-
-
Govaerts, P.J.1
De Ceulaer, G.2
Daemers, K.3
-
10
-
-
63449087171
-
-
International Organization for Standardization
-
International Organization for Standardization: ISO 7029. 1984.
-
(1984)
, vol.ISO 7029
-
-
-
11
-
-
63449123678
-
-
International Organization for Standardization
-
International Organization for Standardization: ISO 389. 1985.
-
(1985)
, vol.ISO 389
-
-
-
12
-
-
63449121463
-
-
International Organization for Standardization
-
International Organization for Standardization: ISO 8253-1. 1989.
-
(1989)
, vol.ISO 8253-1
-
-
-
13
-
-
0036340374
-
Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss
-
Iwasaki S, Harada D, Usami S, et al: Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss. Arch Otolaryngol Head Neck Surg 2002; 128: 913-917.
-
(2002)
Arch Otolaryngol Head Neck Surg
, vol.128
, pp. 913-917
-
-
Iwasaki, S.1
Harada, D.2
Usami, S.3
-
14
-
-
0031708805
-
Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: Localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family
-
Kirschhofer K, Kenyon JB, Hoover DM, et al: Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family. Cytogenet Cell Genet 1998; 82: 126-130.
-
(1998)
Cytogenet Cell Genet
, vol.82
, pp. 126-130
-
-
Kirschhofer, K.1
Kenyon, J.B.2
Hoover, D.M.3
-
17
-
-
0003192392
-
Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21)
-
Kunst H, Marres H, Huygen P, et al: Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). Clin Otolaryngol Allied Sci 2000; 25: 45-54.
-
(2000)
Clin Otolaryngol Allied Sci
, vol.25
, pp. 45-54
-
-
Kunst, H.1
Marres, H.2
Huygen, P.3
-
18
-
-
0030889074
-
The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the spermegg adhesion system
-
Legan PK, Rau A, Keen JN, et al: The mouse tectorins. Modular matrix proteins of the inner ear homologous to components of the spermegg adhesion system. J Biol Chem 1997; 272: 8791-8801.
-
(1997)
J Biol Chem
, vol.272
, pp. 8791-8801
-
-
Legan, P.K.1
Rau, A.2
Keen, J.N.3
-
19
-
-
0033637206
-
A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback
-
Legan PK, Lukashkina VA, Goodyear RJ, et al: A targeted deletion in alpha-tectorin reveals that the tectorial membrane is required for the gain and timing of cochlear feedback. Neuron 2000; 28: 273-285.
-
(2000)
Neuron
, vol.28
, pp. 273-285
-
-
Legan, P.K.1
Lukashkina, V.A.2
Goodyear, R.J.3
-
20
-
-
0000796821
-
Dominant hereditary nerve deafness
-
Martensson B: Dominant hereditary nerve deafness. Acta Otolaryngol 1960; 52: 270-274.
-
(1960)
Acta Otolaryngol
, vol.52
, pp. 270-274
-
-
Martensson, B.1
-
21
-
-
1842586553
-
Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment
-
Mazzoli M, Van Camp G, Newton V, et al: Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment. Audiol Med 2003; 1: 148-150.
-
(2003)
Audiol Med
, vol.1
, pp. 148-150
-
-
Mazzoli, M.1
Van Camp, G.2
Newton, V.3
-
22
-
-
0032755733
-
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
-
McGuirt WT, Prasad SD, Griffith AJ, et al: Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet 1999; 23: 413-419.
-
(1999)
Nat Genet
, vol.23
, pp. 413-419
-
-
McGuirt, W.T.1
Prasad, S.D.2
Griffith, A.J.3
-
23
-
-
34547892710
-
Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree
-
Meyer NC, Nishimura CJ, McMordie S, et al: Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree. Clin Genet 2007; 72: 130-137.
-
(2007)
Clin Genet
, vol.72
, pp. 130-137
-
-
Meyer, N.C.1
Nishimura, C.J.2
McMordie, S.3
-
24
-
-
0037932395
-
A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29
-
Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, et al: A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29. Hum Genet 2003; 112: 24-28.
-
(2003)
Hum Genet
, vol.112
, pp. 24-28
-
-
Modamio-Høybjør, S.1
Moreno-Pelayo, M.A.2
Mencía, A.3
-
25
-
-
0035350929
-
A cysteine substitution in the zona pellucida domain of -tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family
-
Moreno-Pelayo MA, del Castill o I, Villamar M, et al: A cysteine substitution in the zona pellucida domain of -tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family. J Med Genet 2001; 38:E13.
-
(2001)
J Med Genet
, vol.38
-
-
Moreno-Pelayo, M.A.1
del Castill o, I.2
Villamar, M.3
-
26
-
-
0344874051
-
DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23
-
Moreno-Pelayo MA, Modamio-Høybjør S, Mencía A, et al: DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23. J Med Genet 2003; 40: 832-836.
-
(2003)
J Med Genet
, vol.40
, pp. 832-836
-
-
Moreno-Pelayo, M.A.1
Modamio-Høybjør, S.2
Mencía, A.3
-
28
-
-
41149115645
-
Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3
-
Pauw RJ, van Drunen FJ, Collin RW, et al: Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3 . Arch Otolaryngol Head Neck Surg 2008; 134: 294-300.
-
(2008)
Arch Otolaryngol Head Neck Surg
, vol.134
, pp. 294-300
-
-
Pauw, R.J.1
van Drunen, F.J.2
Collin, R.W.3
-
29
-
-
4444237227
-
A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations
-
Pfister M, Thiele H, Van Camp G, et al: A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations. Cell Physiol Biochem 2004; 14: 369-376.
-
(2004)
Cell Physiol Biochem
, vol.14
, pp. 369-376
-
-
Pfister, M.1
Thiele, H.2
Van Camp, G.3
-
30
-
-
33744455727
-
A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation
-
Plantinga RF, de Brouwer AP, Huygen PL, et al: A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. J Assoc Res Otolaryngol 2006; 7: 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
-
31
-
-
33846849469
-
Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family
-
Plantinga RF, Cremers CW, Huygen PL, et al: Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family. J Assoc Res Otolaryngol 2007; 8: 1-7.
-
(2007)
J Assoc Res Otolaryngol
, vol.8
, pp. 1-7
-
-
Plantinga, R.F.1
Cremers, C.W.2
Huygen, P.L.3
-
32
-
-
22044451893
-
Mid-frequency sensorineural hearing loss: Aetiology and prognosis
-
Shah RK, Blevins NH, Karmody CS: Mid-frequency sensorineural hearing loss: aetiology and prognosis. J Laryngol Otol 2005; 119: 529-533.
-
(2005)
J Laryngol Otol
, vol.119
, pp. 529-533
-
-
Shah, R.K.1
Blevins, N.H.2
Karmody, C.S.3
-
33
-
-
1642533497
-
A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3
-
Snoeckx RL, Kremer H, Ensink RJ, et al: A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3. J Med Genet 2004; 41: 11-13.
-
(2004)
J Med Genet
, vol.41
, pp. 11-13
-
-
Snoeckx, R.L.1
Kremer, H.2
Ensink, R.J.3
-
34
-
-
0030946546
-
Nonsyndromic hearing impairment: Unparalleled heterogeneity
-
Van Camp G, Willems PJ, Smith RJ: Nonsyndromic hearing impairment: unparalleled heterogeneity. Am J Hum Genet 1997; 60: 758-764.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 758-764
-
-
Van Camp, G.1
Willems, P.J.2
Smith, R.J.3
-
35
-
-
16944362940
-
A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24
-
Verhoeven K, Van Camp G, Govaerts PJ, et al: A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24. Am J Hum Genet 1997; 60: 1168-1173.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1168-1173
-
-
Verhoeven, K.1
Van Camp, G.2
Govaerts, P.J.3
-
36
-
-
17344364928
-
Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment
-
Verhoeven K, Van Laer L, Kirschhofer K, et al: Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet 1998; 19: 60-62.
-
(1998)
Nat Genet
, vol.19
, pp. 60-62
-
-
Verhoeven, K.1
Van Laer, L.2
Kirschhofer, K.3
-
37
-
-
0003120484
-
Hereditary nerve deafness. A follow-up of four cases in one family
-
Williams F, Roblee LA: Hereditary nerve deafness. A follow-up of four cases in one family. Arch Otolaryngol 1962; 75: 69-77.
-
(1962)
Arch Otolaryngol
, vol.75
, pp. 69-77
-
-
Williams, F.1
Roblee, L.A.2
|