-
1
-
-
33746281131
-
Longterm visual prognosis in Usher syndrome types 1 and 2
-
SADEGHI AM, ERIKSSON K, KIMBERLING WJ, SJOSTROM A, MOLLER C. Longterm visual prognosis in Usher syndrome types 1 and 2. ACTA OPHTHALMOL SCAND. 2006;84,4:537-544.
-
(2006)
Acta Ophthalmol Scand
, vol.84
, Issue.4
, pp. 537-544
-
-
Sadeghi, A.M.1
Eriksson, K.2
Kimberling, W.J.3
Sjostrom, A.4
Moller, C.5
-
3
-
-
1642391516
-
Audiological findings in Usher syndrome types IIa and II (non-IIa)
-
SADEGHI M, COHN ES, KELLY WJ, KIMBERLING WJ, TRANEBJOERG L, MOLLER C. Audiological findings in Usher syndrome types IIa and II (non-IIa). INT J AUDIOL. 2004;43,3:136-143.
-
(2004)
Int J Audiol
, vol.43
, Issue.3
, pp. 136-143
-
-
Sadeghi, M.1
Cohn, E.S.2
Kelly, W.J.3
Kimberling, W.J.4
Tranebjoerg, L.5
Moller, C.6
-
4
-
-
1942420648
-
Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a
-
PENNINGS RJ, HUYGEN PL, ORTEN DJ, WAGENAAR M, VAN AAREM A, KREMER H, et al. Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. ACTA OPHTHALMOL SCAND. 2004;82,2:131-139.
-
(2004)
Acta Ophthalmol Scand
, vol.82
, Issue.2
, pp. 131-139
-
-
Pennings, R.J.1
Huygen, P.L.2
Orten, D.J.3
Wagenaar, M.4
Van Aarem, A.5
Kremer, H.6
-
5
-
-
0031821879
-
Improvements in speech perception by children with profound prelingual hearing loss: Effects of device, communication mode, and chronological age
-
MEYER TA, SVIRSKY MA, KIRK KI, MIYAMOTO RT. Improvements in speech perception by children with profound prelingual hearing loss: Effects of device, communication mode, and chronological age. J SPEECH LANG HEAR RES. 1998;41,4:846-858.
-
(1998)
J Speech Lang Hear Res
, vol.41
, Issue.4
, pp. 846-858
-
-
Meyer, T.A.1
Svirsky, M.A.2
Kirk, K.I.3
Miyamoto, R.T.4
-
6
-
-
33749346050
-
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
-
ROUX AF, FAUGERE V, LE GUEDARD S, PALLARES-RUIZ N, VIELLE A, CHAMBERT S, et al. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J MED GENET. 2006;43,9:763-768.
-
(2006)
J Med Genet
, vol.43
, Issue.9
, pp. 763-768
-
-
Roux, A.F.1
Faugere, V.2
Le Guedard, S.3
Pallares-Ruiz, N.4
Vielle, A.5
Chambert, S.6
-
7
-
-
78649405795
-
Essai d'adaptation à la langue française d'un test d'intelligibilité américain: Le "phonetically balanced kindergarten word lists" ou PBK-50 (Haskins, 1949)
-
Montpellier: Université Montpellier I. Faculté de Médecine
-
LUPI A. Essai d'adaptation à la langue française d'un test d'intelligibilité américain : le "phonetically balanced kindergarten word lists" ou PBK-50 (Haskins, 1949). Mémoire pour Certificat de Capacité d'Orthophonie. Montpellier: Université Montpellier I. Faculté de Médecine.1998:84.
-
(1998)
Mémoire Pour Certificat de Capacité D'Orthophonie
, pp. 84
-
-
Lupi, A.1
-
8
-
-
0034857601
-
Reliability of a rating scale for measuring speech intelligibility after pediatric cochlear implantation
-
ALLEN C, NIKOLOPOULOS TP, DYAR D, O'DONOGHUE GM. Reliability of a rating scale for measuring speech intelligibility after pediatric cochlear implantation. OTOL NEUROTOL. 2001;22,5:631-633.
-
(2001)
Otol Neurotol
, vol.22
, Issue.5
, pp. 631-633
-
-
Allen, C.1
Nikolopoulos, T.P.2
Dyar, D.3
O'Donoghue, G.M.4
-
9
-
-
33746626074
-
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I
-
JAIJO T, ALLER E, OLTRA S, BENEYTO M, NAJERA C, et al. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. HUM MUTAT. 2006;27,3:290-291.
-
(2006)
Hum Mutat
, vol.27
, Issue.3
, pp. 290-291
-
-
Jaijo, T.1
Aller, E.2
Oltra, S.3
Beneyto, M.4
Najera, C.5
-
10
-
-
0030869710
-
Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins
-
ADATO A, WEIL D, KALINSKI H, PEL-OR Y, AYADI H, et al. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. AM J HUM GENET. 1997;61,4:813-821.
-
(1997)
Am J Hum Genet
, vol.61
, Issue.4
, pp. 813-821
-
-
Adato, A.1
Weil, D.2
Kalinski, H.3
Pel-Or, Y.4
Ayadi, H.5
-
11
-
-
0033825065
-
Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I
-
BHARADWAJ AK, KASZTEJNA JP, HUQ S, BERSON EL, DRYJA TP. Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. EXP EYE RES. 2000;71,2:173-181.
-
(2000)
Exp Eye Res
, vol.71
, Issue.2
, pp. 173-181
-
-
Bharadwaj, A.K.1
Kasztejna, J.P.2
Huq, S.3
Berson, E.L.4
Dryja, T.P.5
-
12
-
-
0043244878
-
The molecular genetics of Usher syndrome
-
AHMED ZM, RIAZUDDIN S, WILCOX ER. The molecular genetics of Usher syndrome. CLIN GENET. 2003;63,6:431-444.
-
(2003)
Clin Genet
, vol.63
, Issue.6
, pp. 431-444
-
-
Ahmed, Z.M.1
Riazuddin, S.2
Wilcox, E.R.3
-
13
-
-
33645990900
-
Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11)
-
DI LEVA F, D'ADAMO P, CUBELLIS MV, D'EUSTACCHIO A, ERRICHIELLO M, et al. Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). AUDIOL NEUROOTOL. 2006;11,3:157-164.
-
(2006)
Audiol Neurootol
, vol.11
, Issue.3
, pp. 157-164
-
-
Di Leva, F.1
D'Adamo, P.2
Cubellis, M.V.3
D'Eustacchio, A.4
Errichiello, M.5
-
14
-
-
3543020910
-
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)
-
LUIJENDIJK MW, VAN WIJK E, BISCHOFF AM, KRIEGER E, HUYGEN PL, et al. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). HUM GENET. 2004;115,2:149-156.
-
(2004)
Hum Genet
, vol.115
, Issue.2
, pp. 149-156
-
-
Luijendijk, M.W.1
Van Wijk, E.2
Bischoff, A.M.3
Krieger, E.4
Huygen, P.L.5
-
15
-
-
0037093754
-
Searching for evidence of DFNB2
-
ASTUTO LM, KELLEY PM, ASKEW JW, WESTON MD, SMITH RJ, ALSWAID AF, AL-RAKAF M, KIMBERLING WJ. Searching for evidence of DFNB2. AM J MED GENET. 2002;109,4:291-297.
-
(2002)
Am J Med Genet.
, vol.109
, Issue.4
, pp. 291-297
-
-
Astuto, L.M.1
Kelley, P.M.2
Askew, J.W.3
Weston, M.D.4
Smith, R.J.5
Alswaid, A.F.6
Al-Rakaf, M.7
Kimberling, W.J.8
-
16
-
-
0036626684
-
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
-
AHMED ZM, SMITH TN, RIAZUDDIN S, MAKISHIMA T, GHOSH M, et al. Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. HUM GENET. 2002;110,6:527-531.
-
(2002)
Hum Genet
, vol.110
, Issue.6
, pp. 527-531
-
-
Ahmed, Z.M.1
Smith, T.N.2
Riazuddin, S.3
Makishima, T.4
Ghosh, M.5
-
17
-
-
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, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. AM J HUM GENET. 2001;68,1:26-37.
-
(2001)
Am J Hum Genet
, vol.68
, Issue.1
, pp. 26-37
-
-
Bork, J.M.1
Peters, L.M.2
Riazuddin, S.3
Bernstein, S.L.4
Ahmed, Z.M.5
-
18
-
-
4544332025
-
Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12)
-
PENNINGS RJ, TOPSAKAL V, ASTUTO L, DE BROUWER AP, WAGENAAR M, et al. Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12). OTOL NEUROTOL. 2004;25,5:699-706.
-
(2004)
Otol Neurotol
, vol.25
, Issue.5
, pp. 699-706
-
-
Pennings, R.J.1
Topsakal, V.2
Astuto, L.3
De Brouwer, A.P.4
Wagenaar, M.5
-
19
-
-
0348013128
-
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
-
AHMED ZM, RIAZUDDIN S, AHMAD J, BERNSTEIN SL, GUO Y, et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. HUM MOL GENET. 2003;12,24:3215-3223.
-
(2003)
Hum Mol Genet
, vol.12
, Issue.24
, pp. 3215-3223
-
-
Ahmed, Z.M.1
Riazuddin, S.2
Ahmad, J.3
Bernstein, S.L.4
Guo, Y.5
-
20
-
-
0037342561
-
Usher syndrome and cochlear implantation
-
LOUNDON N, MARLIN S, BUSQUET D, DENOYELLE F, ROGER G, RENAUD F, GARABEDIAN EN. Usher syndrome and cochlear implantation. OTOL NEUROTOL. 2003;24,2:216-221.
-
(2003)
Otol Neurotol
, vol.24
, Issue.2
, pp. 216-221
-
-
Loundon, N.1
Marlin, S.2
Busquet, D.3
Denoyelle, F.4
Roger, G.5
Renaud, F.6
Garabedian, E.N.7
-
21
-
-
33745241128
-
Audiologic performance and benefit of cochlear implantation in Usher syndrome type I
-
PENNINGS RJ, DAMEN GW, SNIK AF, HOEFSLOOT L, CREMERS CW, MYLANUS EA. Audiologic performance and benefit of cochlear implantation in Usher syndrome type I. LARYNGOSCOPE. 2006;116,5:717-722.
-
(2006)
Laryngoscope
, vol.116
, Issue.5
, pp. 717-722
-
-
Pennings, R.J.1
Damen, G.W.2
Snik, A.F.3
Hoefsloot, L.4
Cremers, C.W.5
Mylanus, E.A.6
-
22
-
-
33745286308
-
Quality of life and cochlear implantation in Usher syndrome type I
-
DAMEN GW, PENNINGS RJ, SNIK AF, MYLANUS EA. Quality of life and cochlear implantation in Usher syndrome type I. LARYNGOSCOPE. 2006;116,5:723-728.
-
(2006)
Laryngoscope
, vol.116
, Issue.5
, pp. 723-728
-
-
Damen, G.W.1
Pennings, R.J.2
Snik, A.F.3
Mylanus, E.A.4
-
23
-
-
0031614790
-
Spatial hearing in children with visual disabilities
-
ASHMEAD DH, WALL RS, EBINGER KA, EATON SB, SNOOK-HILL MM, YANG X. Spatial hearing in children with visual disabilities. PERCEPTION. 1998;27,1:105-122.
-
(1998)
Perception
, vol.27
, Issue.1
, pp. 105-122
-
-
Ashmead, D.H.1
Wall, R.S.2
Ebinger, K.A.3
Eaton, S.B.4
Snook-Hill, M.M.5
Yang, X.6
-
24
-
-
0036385745
-
Vertical sound localization in blind humans
-
LEWALD J. Vertical sound localization in blind humans. NEURO PSYCHOLOGIA. 2002;40,12:1868-1872.
-
(2002)
Neuro Psychologia
, vol.40
, Issue.12
, pp. 1868-1872
-
-
Lewald, J.1
-
25
-
-
4544338341
-
Bilateral cochlear implants: A way to optimize auditory perception abilities in deaf children?
-
KUHN-INACKER H, SHEHATA-DIELER W, MULLER J, HELMS J. Bilateral cochlear implants: A way to optimize auditory perception abilities in deaf children? INT J PEDIATR OTORHINO LARYNGOL. 2004;68,10:1257-1266.
-
(2004)
Int J Pediatr Otorhino Laryngol
, vol.68
, Issue.10
, pp. 1257-1266
-
-
Kuhn-Inacker, H.1
Shehata-Dieler, W.2
Muller, J.3
Helms, J.4
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