-
1
-
-
0001645884
-
Vereinzelte beobachtungen and bemerkungen: Exceptionelles verhalten des gesichtsfeldes bei pigmententartung der netzhaut
-
von Graefe A. Vereinzelte Beobachtungen and Bemerkungen: Exceptionelles Verhalten des Gesichtsfeldes bei Pigmententartung der Netzhaut. Von Graefes Arch Ophthalmol. 1858;4:250-253.
-
(1858)
Von Graefes Arch Ophthalmol.
, vol.4
, pp. 250-253
-
-
Von Graefe, A.1
-
2
-
-
84916342127
-
Studien über retinitis pigmentosa
-
von Wibout F. Studien über Retinitis Pigmentosa. Klin Monatsbl Augenheilkd. 1930;87:298-307.
-
(1930)
Klin Monatsbl Augenheilkd.
, vol.87
, pp. 298-307
-
-
Von Wibout, F.1
-
3
-
-
0011110995
-
Retinitis pigmentosa and allied diseases
-
Pearson K, ed. London, England: Cambridge Press
-
Bell J. Retinitis pigmentosa and allied diseases. In: Pearson K, ed. The Treasury of Human Inheritance. Vol 2. London, England: Cambridge Press; 1922: 1-29.
-
(1922)
The Treasury of Human Inheritance
, vol.2
, pp. 1-29
-
-
Bell, J.1
-
4
-
-
7944229728
-
Retinitis pigmentosa combined with congenital deafness: With vestibulocerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study
-
Hallgren B. Retinitis pigmentosa combined with congenital deafness: with vestibulocerebellar ataxia and mental abnormality in a proportion of cases: a clinical and genetico-statistical study. Acta Psychiatr Neurol Scand. 1959;34(suppl 13B):1-101.
-
(1959)
Acta Psychiatr Neurol Scand.
, vol.34
, Issue.SUPPL. 13B
, pp. 1-101
-
-
Hallgren, B.1
-
5
-
-
0002956094
-
The heterogeneity of Usher syndrome
-
Littlefield JW, Ebbing FJG, Henderson JW, eds. Amsterdam, the Netherlands: Exerpta Medica
-
Davenport SLH, Omenn GS. The heterogeneity of Usher syndrome [abstract]. In: Littlefield JW, Ebbing FJG, Henderson JW, eds. Fifth International Conference on Birth Defects. Amsterdam, the Netherlands: Exerpta Medica; 1977:7-88.
-
(1977)
Fifth International Conference on Birth Defects
, pp. 7-88
-
-
Davenport, S.L.H.1
Omenn, G.S.2
-
6
-
-
0027058632
-
A gene for Usher type I (U5H1A) maps to chromosome 14q
-
Kaplan J, Gerber S, Bonneau D, et al. A gene for Usher type I (U5H1A) maps to chromosome 14q. Genomics. 1992;14:979-987.
-
(1992)
Genomics
, vol.14
, pp. 979-987
-
-
Kaplan, J.1
Gerber, S.2
Bonneau, D.3
-
7
-
-
0027058412
-
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11
-
Kimberling WJ, Müller CG, Davenport SLH, et al. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics. 1992;14: 988-994.
-
(1992)
Genomics
, vol.14
, pp. 988-994
-
-
Kimberling, W.J.1
Müller, C.G.2
Davenport, S.L.H.3
-
8
-
-
0027058291
-
Localization of two genes for Usher syndrome type I to chromosome 11
-
Smith RJH, Lee EC, Kimberling WJ, et al. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics. 1992;14:995-1002.
-
(1992)
Genomics
, vol.14
, pp. 995-1002
-
-
Smith, R.J.H.1
Lee, E.C.2
Kimberling, W.J.3
-
9
-
-
0029798669
-
Localization of the Usher type 1D gene (USH1D) to chromosome 10
-
Wayne S, Der Kaloustian VM, Schloss M, et al. Localization of the Usher type 1D gene (USH1D) to chromosome 10. Hum Mol Genet. 1996;10:1689-1692.
-
(1996)
Hum Mol Genet.
, vol.10
, pp. 1689-1692
-
-
Wayne, S.1
Der Kaloustian, V.M.2
Schloss, M.3
-
10
-
-
0031032971
-
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21 q21
-
Chaib H, Kaplan J, Gerber S, et al. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21 q21. Hum Mol Genet. 1996;6: 27-31.
-
(1996)
Hum Mol Genet.
, vol.6
, pp. 27-31
-
-
Chaib, H.1
Kaplan, J.2
Gerber, S.3
-
11
-
-
0000704779
-
Localization of the Usher syndrome type IF (USH1F) to chromosome 10
-
Abstract 1752
-
Wayne S, Lowry RB, McLeod DR, Knaus R, Farr C, Smith RJH. Localization of the Usher syndrome type IF (USH1F) to chromosome 10. Am J Hum Genet. 1997; 61(suppl):A300. Abstract 1752.
-
(1997)
Am J Hum Genet.
, vol.61
, Issue.SUPPL.
-
-
Wayne, S.1
Lowry, R.B.2
McLeod, D.R.3
Knaus, R.4
Farr, C.5
Smith, R.J.H.6
-
12
-
-
0025308736
-
Localization of Usher syndrome type II to chromosome 1q
-
Kimberling WJ, Weston MD, Müller CG, et al. Localization of Usher syndrome type II to chromosome 1q. Genomics. 1990;7:245-249.
-
(1990)
Genomics
, vol.7
, pp. 245-249
-
-
Kimberling, W.J.1
Weston, M.D.2
Müller, C.G.3
-
13
-
-
0028836898
-
Assignment of Usher syndrome type III (USH3) gene to chromosome 3q
-
Sankila EM, Pakarinen L, Kaariaien H, et al. Assignment of Usher syndrome type III (USH3) gene to chromosome 3q. Hum Mol Genet. 1995;4:93-98.
-
(1995)
Hum Mol Genet.
, vol.4
, pp. 93-98
-
-
Sankila, E.M.1
Pakarinen, L.2
Kaariaien, H.3
-
14
-
-
0028815440
-
Defective myosin Vlla gene responsible for Usher syndrome type 1B
-
Weil D, Blanchard S, Kaplan J, et al. Defective myosin Vlla gene responsible for Usher syndrome type 1B. Nature. 1995;374:60-61.
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil, D.1
Blanchard, S.2
Kaplan, J.3
-
15
-
-
0032511101
-
A novel gene encoding a protein with extracellular matrix motifs is mutated in Usher syndrome type 2A
-
Eudy JD, Weston MD, Fang Yao S, et al. A novel gene encoding a protein with extracellular matrix motifs is mutated in Usher syndrome type 2A. Science. 1998; 280:1753-1757.
-
(1998)
Science
, vol.280
, pp. 1753-1757
-
-
Eudy, J.D.1
Weston, M.D.2
Fang Yao, S.3
-
16
-
-
0014802926
-
Vibrotactile thresholds in pure tone audiometry
-
Boothroyd A, Cawkwell S. Vibrotactile thresholds in pure tone audiometry. Acta Otolaryngol. 1970;69:381-387.
-
(1970)
Acta Otolaryngol.
, vol.69
, pp. 381-387
-
-
Boothroyd, A.1
Cawkwell, S.2
-
17
-
-
12644291217
-
Stable and progressive hearing loss in type 2A Usher syndrome
-
van Aarem A, Huygen PLM, Pinckers AJLG, Bleeker-Wagemakers EM, Kimberling WJ, Cremers CWRJ. Stable and progressive hearing loss in type 2A Usher syndrome. Ann Otol Rhinol Laiyngol. 1996;105:962-967.
-
(1996)
Ann Otol Rhinol Laiyngol.
, vol.105
, pp. 962-967
-
-
Van Aarem, A.1
Huygen, P.L.M.2
Pinckers, A.J.L.G.3
Bleeker-Wagemakers, E.M.4
Kimberling, W.J.5
Cremers, C.W.R.J.6
-
18
-
-
0029202639
-
Clinical and molecular genetics of Usher syndrome
-
Kimberling WJ, Müller CG. Clinical and molecular genetics of Usher syndrome. J Am Acad Audiol. 1995;6:63-72.
-
(1995)
J Am Acad Audiol.
, vol.6
, pp. 63-72
-
-
Kimberling, W.J.1
Müller, C.G.2
-
20
-
-
0020599803
-
Usher syndrome: Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity
-
Fishman GA, Kumar A, Joseph ME, Torok N, Anderson RJ. Usher syndrome: ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol. 1983;101:1367-1374.
-
(1983)
Arch Ophthalmol.
, vol.101
, pp. 1367-1374
-
-
Fishman, G.A.1
Kumar, A.2
Joseph, M.E.3
Torok, N.4
Anderson, R.J.5
-
21
-
-
0029035464
-
Usher's syndrome type III in Finland
-
Pakarinen L, Karjalainen S, Simola KOJ, Laippala P, Kaitalo H. Usher's syndrome type III in Finland. Laryngoscope. 1995;105:613-617.
-
(1995)
Laryngoscope
, vol.105
, pp. 613-617
-
-
Pakarinen, L.1
Karjalainen, S.2
Simola, K.O.J.3
Laippala, P.4
Kaitalo, H.5
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