-
1
-
-
77955662426
-
Frequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children.
-
Kimberling WJ, Hildebrand MS, Shearer AE et al. Frequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children. Genet Med 2010: 12: 512-516.
-
(2010)
Genet Med
, vol.12
, pp. 512-516
-
-
Kimberling, W.J.1
Hildebrand, M.S.2
Shearer, A.E.3
-
2
-
-
84867587333
-
-
The heterogeneity of Usher syndrome. International Conference of Birth Defects, Montreal
-
Davenport SLH, Ommenn GS. The heterogeneity of Usher syndrome. International Conference of Birth Defects, vol. V, Montreal, 1977.
-
(1977)
, vol.5
-
-
Davenport, S.L.H.1
Ommenn, G.S.2
-
3
-
-
0028295151
-
Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium.
-
Smith RJ, Berlin CI, Hejtmancik JF et al. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet 1994: 50: 32-38.
-
(1994)
Am J Med Genet
, vol.50
, pp. 32-38
-
-
Smith, R.J.1
Berlin, C.I.2
Hejtmancik, J.F.3
-
4
-
-
80051631299
-
Four year follow-up of diagnostic service in USH1 patients.
-
Roux AF, Faugere V, Vache C et al. Four year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci 2011: 52: 4063-4071.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 4063-4071
-
-
Roux, A.F.1
Faugere, V.2
Vache, C.3
-
5
-
-
34250377309
-
Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.
-
Michalski N, Michel V, Bahloul A et al. Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci 2007: 27: 6478-6488.
-
(2007)
J Neurosci
, vol.27
, pp. 6478-6488
-
-
Michalski, N.1
Michel, V.2
Bahloul, A.3
-
6
-
-
0037261368
-
Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.
-
Pennings RJ, Huygen PL, Weston MD et al. Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene. Otol Neurotol 2003: 24: 58-63.
-
(2003)
Otol Neurotol
, vol.24
, pp. 58-63
-
-
Pennings, R.J.1
Huygen, P.L.2
Weston, M.D.3
-
7
-
-
1642391516
-
Audiological findings in Usher syndrome types IIa and II (non-IIa).
-
Sadeghi M, Cohn ES, Kelly WJ et al. Audiological findings in Usher syndrome types IIa and II (non-IIa). Int J Audiol 2004: 43: 136-143.
-
(2004)
Int J Audiol
, vol.43
, pp. 136-143
-
-
Sadeghi, M.1
Cohn, E.S.2
Kelly, W.J.3
-
8
-
-
23844543556
-
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation.
-
Bernal S, Meda C, Solans T et al. Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype-phenotype correlation. Clin Genet 2005: 68: 204-214.
-
(2005)
Clin Genet
, vol.68
, pp. 204-214
-
-
Bernal, S.1
Meda, C.2
Solans, T.3
-
9
-
-
70350140008
-
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
-
Nakanishi H, Ohtsubo M, Iwasaki S et al. Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. Clin Genet 2009: 76: 383-391.
-
(2009)
Clin Genet
, vol.76
, pp. 383-391
-
-
Nakanishi, H.1
Ohtsubo, M.2
Iwasaki, S.3
-
10
-
-
0033358594
-
A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.
-
Liu XZ, Hope C, Liang CY et al. A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet 1999: 64: 1221-1225.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1221-1225
-
-
Liu, X.Z.1
Hope, C.2
Liang, C.Y.3
-
11
-
-
33947148611
-
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
-
Ebermann I, Scholl HP, Charbel Issa P et al. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet 2007: 121: 203-211.
-
(2007)
Hum Genet
, vol.121
, pp. 203-211
-
-
Ebermann, I.1
Scholl, H.P.2
Charbel Issa, P.3
-
12
-
-
65949088336
-
GPR98 mutations cause Usher syndrome type 2 in males.
-
Ebermann I, Wiesen MH, Zrenner E et al. GPR98 mutations cause Usher syndrome type 2 in males. J Med Genet 2009: 46: 277-280.
-
(2009)
J Med Genet
, vol.46
, pp. 277-280
-
-
Ebermann, I.1
Wiesen, M.H.2
Zrenner, E.3
-
13
-
-
65949124017
-
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.
-
Hilgert N, Kahrizi K, Dieltjens N et al. A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. J Med Genet 2009: 46: 272-276.
-
(2009)
J Med Genet
, vol.46
, pp. 272-276
-
-
Hilgert, N.1
Kahrizi, K.2
Dieltjens, N.3
-
14
-
-
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 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: 763-768.
-
(2006)
J Med Genet
, vol.43
, pp. 763-768
-
-
Roux, A.F.1
Faugere, V.2
Le Guedard, S.3
-
15
-
-
34548014988
-
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
-
Baux D, Larrieu L, Blanchet C et al. Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat 2007: 28: 781-789.
-
(2007)
Hum Mutat
, vol.28
, pp. 781-789
-
-
Baux, D.1
Larrieu, L.2
Blanchet, C.3
-
16
-
-
0029876248
-
Preferred test conditions for determining hearing thresholds for standardization. ISO/TC 43/WG 1 Threshold of hearing. International Organization for Standardization Technical Committee 43.
-
Preferred test conditions for determining hearing thresholds for standardization. ISO/TC 43/WG 1 Threshold of hearing. International Organization for Standardization Technical Committee 43. Scand Audiol 1996: 25: 45-52.
-
(1996)
Scand Audiol
, vol.25
, pp. 45-52
-
-
-
17
-
-
1842586553
-
Recommandations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment.
-
Mazzoli M, Van Camp G, Newton V et al. Recommandations 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
-
18
-
-
34248353947
-
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells.
-
Liu X, Bulgakov OV, Darrow KN et al. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A 2007: 104: 4413-4418.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 4413-4418
-
-
Liu, X.1
Bulgakov, O.V.2
Darrow, K.N.3
-
19
-
-
77953207481
-
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
-
Ebermann I, Phillips JB, Liebau MC et al. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest 2010: 120: 1812-1823.
-
(2010)
J Clin Invest
, vol.120
, pp. 1812-1823
-
-
Ebermann, I.1
Phillips, J.B.2
Liebau, M.C.3
-
20
-
-
0033365218
-
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.
-
Adato A, Kalinski H, Weil D et al. Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. Am J Hum Genet 1999: 65: 261-265.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 261-265
-
-
Adato, A.1
Kalinski, H.2
Weil, D.3
|