-
3
-
-
0027058632
-
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
-
Kaplan J, Gerber S, Bonneau D. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics. 14:1992;979-987.
-
(1992)
Genomics
, vol.14
, pp. 979-987
-
-
Kaplan, J.1
Gerber, S.2
Bonneau, D.3
-
4
-
-
0028284847
-
Genetic heterogeneity of Usher syndrome type 1 in French families
-
Larget-Piet D, Gerber S, Bonneau D. Genetic heterogeneity of Usher syndrome type 1 in French families. Genomics. 21:1994;138-143.
-
(1994)
Genomics
, vol.21
, pp. 138-143
-
-
Larget-Piet, D.1
Gerber, S.2
Bonneau, D.3
-
5
-
-
0027058412
-
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11
-
Kimberling W. J, Möller C. G, Davenport S. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics. 14:1992;988-994.
-
(1992)
Genomics
, vol.14
, pp. 988-994
-
-
Kimberling, W.J.1
Möller, C.G.2
Davenport, S.3
-
6
-
-
0028262286
-
Genetic mapping of the gene for Usher syndrome: Linkage analysis in a large Samaritan kindred
-
Bonné-Tamir B, Korostishevsky M, Kalinsky H. Genetic mapping of the gene for Usher syndrome: Linkage analysis in a large Samaritan kindred. Genomics. 20:1994;36-42.
-
(1994)
Genomics
, vol.20
, pp. 36-42
-
-
Bonné-Tamir, B.1
Korostishevsky, M.2
Kalinsky, H.3
-
7
-
-
0027058291
-
Localization of two genes for Usher syndrome type I to chromosome 11
-
Smith R. J. H, Lee E. C, Kimberling W. J. Localization of two genes for Usher syndrome type I to chromosome 11. Genomics. 14:1992;995-1002.
-
(1992)
Genomics
, vol.14
, pp. 995-1002
-
-
Smith R.J., H.1
Lee, E.C.2
Kimberling, W.J.3
-
8
-
-
0028226978
-
Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11
-
Keats B, Nouri N, Pelias M. Z, Deininger P. L., Litt M. Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. American Journal of Human Genetics. 54:1994;681-686.
-
(1994)
American Journal of Human Genetics
, vol.54
, pp. 681-686
-
-
Keats, B.1
Nouri, N.2
Pelias, M.Z.3
Deininger, P.L.4
Litt, M.5
-
9
-
-
0029798669
-
Localization of the Usher syndrome type ID gene (USH1D) to chromosome 10
-
Wayne S, Der Kaloustian V. M, Schloss M. Localization of the Usher syndrome type ID gene (USH1D) to chromosome 10. Human Molecular Genetics. 5:1996;1689-1692.
-
(1996)
Human Molecular Genetics
, vol.5
, 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 21q21
-
Chaib H, Kaplan J, Gerber S. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21. Human Molecular Genetics. 6:1997;27-31.
-
(1997)
Human Molecular Genetics
, vol.6
, pp. 27-31
-
-
Chaib, H.1
Kaplan, J.2
Gerber, S.3
-
11
-
-
0025308736
-
Localization of Usher syndrome type II to chromosome 1q
-
Kimberling W. J, Weston M. D, Möller C. G. Localization of Usher syndrome type II to chromosome 1q. Genomics. 7:1990;245-249.
-
(1990)
Genomics
, vol.7
, pp. 245-249
-
-
Kimberling, W.J.1
Weston, M.D.2
Möller, C.G.3
-
12
-
-
0025323589
-
Mapping recessive ophthalmic diseases: Linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q
-
Lewis R. A, Otterud B, Stauffer D, Lalouel J-M., Leppert M. Mapping recessive ophthalmic diseases: Linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q. Genomics. 7:1990;250-256.
-
(1990)
Genomics
, vol.7
, pp. 250-256
-
-
Lewis, R.A.1
Otterud, B.2
Stauffer, D.3
Lalouel, J-M.4
Leppert, M.5
-
14
-
-
0028860302
-
A type VII myosin encoded by the mouse deafness gene shaker-1
-
Gibson F, Walsh J, Mburu P. A type VII myosin encoded by the mouse deafness gene shaker-1. Nature. 374:1995;62-64.
-
(1995)
Nature
, vol.374
, pp. 62-64
-
-
Gibson, F.1
Walsh, J.2
Mburu, P.3
-
16
-
-
0028815440
-
Defective myosin VIIA gene responsible for Usher syndrome type IB
-
Weil D, Blanchard S, Kaplan J. Defective myosin VIIA gene responsible for Usher syndrome type IB. Nature. 374:1995;60-61.
-
(1995)
Nature
, vol.374
, pp. 60-61
-
-
Weil, D.1
Blanchard, S.2
Kaplan, J.3
-
18
-
-
0346210139
-
Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB
-
Lévy G, Levi-Acobas F, Blanchard S. Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. Human Molecular Genetics. 6:1997;111-116.
-
(1997)
Human Molecular Genetics
, vol.6
, pp. 111-116
-
-
Lévy, G.1
Levi-Acobas, F.2
Blanchard, S.3
-
19
-
-
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. Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins. American Journal of Human Genetics. 61:1997;813-821.
-
(1997)
American Journal of Human Genetics
, vol.61
, pp. 813-821
-
-
Adato, A.1
Weil, D.2
Kalinski, H.3
-
20
-
-
0031879888
-
Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with Usher syndrome type Ib
-
Espinós C, Millán J. M, Sánchez F, Beneyto M., Nájera C. Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with Usher syndrome type Ib. Human Genetics. 102:1998;691-694.
-
(1998)
Human Genetics
, vol.102
, pp. 691-694
-
-
Espinós, C.1
Millán, J.M.2
Sánchez, F.3
Beneyto, M.4
Nájera, C.5
-
21
-
-
0030846814
-
Unconventional myosins, the basis for deafness in mouse and man
-
Hasson T. Unconventional myosins, the basis for deafness in mouse and man. American Journal of Human Genetics. 61:1997;801-805.
-
(1997)
American Journal of Human Genetics
, vol.61
, pp. 801-805
-
-
Hasson, T.1
-
22
-
-
0030951102
-
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
-
Weil D, Küssel P, Blanchard S. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nature Genetics. 16:1997;191-193.
-
(1997)
Nature Genetics
, vol.16
, pp. 191-193
-
-
Weil, D.1
Küssel, P.2
Blanchard, S.3
-
23
-
-
0030960855
-
Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
-
Liu X-Z, Walsh J, Mburn P. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nature Genetics. 16:1997;188-190.
-
(1997)
Nature Genetics
, vol.16
, pp. 188-190
-
-
Liu X-Z1
Walsh, J.2
Mburn, P.3
-
24
-
-
0031278277
-
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
-
Liu X-Z, Walsh J, Tamagawa T. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nature Genetics. 17:1997;268-269.
-
(1997)
Nature Genetics
, vol.17
, pp. 268-269
-
-
Liu X-Z1
Walsh, J.2
Tamagawa, T.3
-
25
-
-
0031945676
-
Linkage analysis in Usher syndrome type I (USH1) families from Spain
-
Espinós C, Nájera C, Millán J. M. Linkage analysis in Usher syndrome type I (USH1) families from Spain. Journal of Medical Genetics. 35:1998;391-398.
-
(1998)
Journal of Medical Genetics
, vol.35
, pp. 391-398
-
-
Espinós, C.1
Nájera, C.2
Millán, J.M.3
-
26
-
-
9244233852
-
Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia
-
Weil D, Lévy G, Sahly I. Human myosin VIIA responsible for the Usher 1B syndrome: A predicted membrane-associated motor protein expressed in developing sensory epithelia. Proceedings of the National Academy of Science of USA. 93:1996;3232-3237.
-
(1996)
Proceedings of the National Academy of Science of USA
, vol.93
, pp. 3232-3237
-
-
Weil, D.1
Lévy, G.2
Sahly, I.3
-
27
-
-
0030722186
-
The architecture of hearing
-
Pennisi E. The architecture of hearing. Science. 278:1997;1223-1224.
-
(1997)
Science
, vol.278
, pp. 1223-1224
-
-
Pennisi, E.1
-
28
-
-
0026322140
-
Severe deficiency of CFTR mRNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
-
Hamosh A, Trapnell B. C, Zeitlin P. L. Severe deficiency of CFTR mRNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. Journal of Clinical Investigation. 88:1991;1880-1885.
-
(1991)
Journal of Clinical Investigation
, vol.88
, pp. 1880-1885
-
-
Hamosh, A.1
Trapnell, B.C.2
Zeitlin, P.L.3
-
29
-
-
0031939884
-
Visual acuity and visual field impairment in Usher syndrome
-
Edwards A, Fishman G. A, Anderson R. J, Grover S., Derlacki D. J. Visual acuity and visual field impairment in Usher syndrome. Archives of Ophthalmology. 116:1998;165-168.
-
(1998)
Archives of Ophthalmology
, vol.116
, pp. 165-168
-
-
Edwards, A.1
Fishman, G.A.2
Anderson, R.J.3
Grover, S.4
Derlacki, D.J.5
-
30
-
-
0024496414
-
Usher syndrome: Clinical findings and gene localization studies
-
Kimberling W. J, Möller C. G, Davenport S. L. H. Usher syndrome: Clinical findings and gene localization studies. Laryngoscope. 99:1989;66-72.
-
(1989)
Laryngoscope
, vol.99
, pp. 66-72
-
-
Kimberling, W.J.1
Möller, C.G.2
Davenport S.L., H.3
-
31
-
-
0029035464
-
Usher's syndrome type 3 in Finland
-
Pakarinen L, Karjalainen S, Simola K. O. J, Laippala P., Kaitalo H. Usher's syndrome type 3 in Finland. Laryngoscope. 105:1995;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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