-
1
-
-
0023146465
-
Possible pathogenesis of congenital stationary night blindness
-
Kato M, Aonuma H, Kawamura H, Miura Y, Watanabe I. Possible pathogenesis of congenital stationary night blindness. Jpn J Ophthalmol. 1987;31:88-101.
-
(1987)
Jpn J Ophthalmol.
, vol.31
, pp. 88-101
-
-
Kato, M.1
Aonuma, H.2
Kawamura, H.3
Miura, Y.4
Watanabe, I.5
-
2
-
-
0025357734
-
Mechanisms and sites of loss of scotopic sensitivity: A clinical analysis of congenital night blindness
-
Sharp D, Arden GB, Kemp CR, Hogg CR, Bird AC. Mechanisms and sites of loss of scotopic sensitivity: A clinical analysis of congenital night blindness. Clin Vision Sci. 1990;5:217-230.
-
(1990)
Clin Vision Sci.
, vol.5
, pp. 217-230
-
-
Sharp, D.1
Arden, G.B.2
Kemp, C.R.3
Hogg, C.R.4
Bird, A.C.5
-
3
-
-
0028125886
-
Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness
-
Rao VR, Cohen GB, Oprain DD. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature. 1994; 367:639-642.
-
(1994)
Nature
, vol.367
, pp. 639-642
-
-
Rao, V.R.1
Cohen, G.B.2
Oprain, D.D.3
-
4
-
-
0025105161
-
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
-
Dryja TP, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990;343:364-366.
-
(1990)
Nature
, vol.343
, pp. 364-366
-
-
Dryja, T.P.1
McGee, T.L.2
Reichel, E.3
-
5
-
-
0027248024
-
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
-
Dryja TP, Berson EL, Rao VR, Oprain DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993;4:280-283.
-
(1993)
Nat Genet.
, vol.4
, pp. 280-283
-
-
Dryja, T.P.1
Berson, E.L.2
Rao, V.R.3
Oprain, D.D.4
-
6
-
-
0028128535
-
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness
-
Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994; 7:64-68.
-
(1994)
Nat Genet.
, vol.7
, pp. 64-68
-
-
Gal, A.1
Orth, U.2
Baehr, W.3
Schwinger, E.4
Rosenberg, T.5
-
7
-
-
0027270053
-
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
-
McLaughlin ME, Sandberg MA, Berson EL, Dryja TP. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet. 1994;4:130-134.
-
(1994)
Nat Genet.
, vol.4
, pp. 130-134
-
-
McLaughlin, M.E.1
Sandberg, M.A.2
Berson, E.L.3
Dryja, T.P.4
-
8
-
-
0024756571
-
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3
-
Mussarella MA, Weleber RG, Murphey WH, et al. Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Genomics. 1989;5:727-737.
-
(1989)
Genomics
, vol.5
, pp. 727-737
-
-
Mussarella, M.A.1
Weleber, R.G.2
Murphey, W.H.3
-
9
-
-
0024558243
-
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp
-
Gal A, Schinzel A, Orth U, et al. Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. Hum Genet. 1989;81:315-318.
-
(1989)
Hum Genet.
, vol.81
, pp. 315-318
-
-
Gal, A.1
Schinzel, A.2
Orth, U.3
-
10
-
-
0025272312
-
A locus for X-linked congenital stationary night blindness is located on the proximal short arm of the X chromosome
-
Bech-Hansen NT, Field LL, Schramm AM, et al. A locus for X-linked congenital stationary night blindness is located on the proximal short arm of the X chromosome. Hum Genet. 1990;84:406-408.
-
(1990)
Hum Genet.
, vol.84
, pp. 406-408
-
-
Bech-Hansen, N.T.1
Field, L.L.2
Schramm, A.M.3
-
11
-
-
0021344697
-
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28
-
Bhattacharya SS, Wright AF, Clayton JF, et al. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature. 1984; 309:253-255.
-
(1984)
Nature
, vol.309
, pp. 253-255
-
-
Bhattacharya, S.S.1
Wright, A.F.2
Clayton, J.F.3
-
12
-
-
0022868912
-
Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): Further linkage data, heterogeneity testing, and risk estimation
-
Clayton JF, Wright AF, Jay M, et al. Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): Further linkage data, heterogeneity testing, and risk estimation. Hum Genet. 1986; 74: 168-171.
-
(1986)
Hum Genet.
, vol.74
, pp. 168-171
-
-
Clayton, J.F.1
Wright, A.F.2
Jay, M.3
-
13
-
-
0026639778
-
Linkage analysis in X-linked congenital stationary night blindness
-
Aldred MA, Dry KL, Sharp DM, et al. Linkage analysis in X-linked congenital stationary night blindness. Genomics. 1992;714:99-104.
-
(1992)
Genomics
, vol.714
, pp. 99-104
-
-
Aldred, M.A.1
Dry, K.L.2
Sharp, D.M.3
-
14
-
-
0026511032
-
Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7
-
992
-
Bech-Hansen NT, Moore BJ, Pearce WG. Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7. Genomics. 992;12: 409-411.
-
Genomics
, vol.12
, pp. 409-411
-
-
Bech-Hansen, N.T.1
Moore, B.J.2
Pearce, W.G.3
-
15
-
-
0029841724
-
Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: A genetically defined 5 cM critical region and exclusion of candidate genes by physical mapping
-
Thiselton DL, Hampson RM, Nayudu M, et al. Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: A genetically defined 5 cM critical region and exclusion of candidate genes by physical mapping. Genome Res. 1996;6:1093-1102.
-
(1996)
Genome Res.
, vol.6
, pp. 1093-1102
-
-
Thiselton, D.L.1
Hampson, R.M.2
Nayudu, M.3
-
16
-
-
0028242407
-
Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB
-
Bergen AAB, Kestelyn PH, Leys M, Meire F. Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. J Med Genet. 1994;31:580-582.
-
(1994)
J Med Genet.
, vol.31
, pp. 580-582
-
-
Bergen, A.A.B.1
Kestelyn, P.H.2
Leys, M.3
Meire, F.4
-
17
-
-
0025274526
-
Variable expressivity in X-linked congenital stationary night blindness
-
Pearce WG, Reedyk M, Coupland SG. Variable expressivity in X-linked congenital stationary night blindness. Can J Ophthalmol. 1990;25:3-10.
-
(1990)
Can J Ophthalmol.
, vol.25
, pp. 3-10
-
-
Pearce, W.G.1
Reedyk, M.2
Coupland, S.G.3
-
18
-
-
0027474273
-
Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: Demonstration of homozygosity
-
Bech-Hansen NT, Pearce WG. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: Demonstration of homozygosity. Am J Hum Genet. 1993;52:71-77.
-
(1993)
Am J Hum Genet.
, vol.52
, pp. 71-77
-
-
Bech-Hansen, N.T.1
Pearce, W.G.2
-
19
-
-
0028236066
-
A 1.8Mb YAC contig in Xp11.23: Identification of CpG islands and physical mapping of CA repeats in a region of high gene density
-
Coleman MP, Nemeth AH, Campbell L, Chandrajit PR, Weissenbach J, Davies KE. A 1.8Mb YAC contig in Xp11.23: Identification of CpG islands and physical mapping of CA repeats in a region of high gene density. Genomics. 1994;21:337-343.
-
(1994)
Genomics
, vol.21
, pp. 337-343
-
-
Coleman, M.P.1
Nemeth, A.H.2
Campbell, L.3
Chandrajit, P.R.4
Weissenbach, J.5
Davies, K.E.6
-
20
-
-
0028817495
-
Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)
-
Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers H-H, Cremers F. Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB). Hum Genet. 1995;95:67-70.
-
(1995)
Hum Genet.
, vol.95
, pp. 67-70
-
-
Berger, W.1
Van Duijnhoven, G.2
Pinckers, A.3
Smits, A.4
Ropers, H.-H.5
Cremers, F.6
-
21
-
-
0029000026
-
Localisation of a novel X-linked congenital stationary night blindness locus: Close linkage to the RP3 type retinitis pigmentosa gene region
-
Bergen AAB, Brink JB, Riemslag F, Schuurman EJM, Tijmes T. Localisation of a novel X-linked congenital stationary night blindness locus: Close linkage to the RP3 type retinitis pigmentosa gene region. Hum Mol Genet. 1995;4:931-935.
-
(1995)
Hum Mol Genet.
, vol.4
, pp. 931-935
-
-
Bergen, A.A.B.1
Brink, J.B.2
Riemslag, F.3
Schuurman, E.J.M.4
Tijmes, T.5
-
22
-
-
0028911437
-
Genetic and physical mapping of five novel microsatellite markers on Xp21.1-p11.22
-
Thiselton DL, Lindsay S, Kamakari S, Hardcastle AJ, Roustan P, Bhattacharya SS. Genetic and physical mapping of five novel microsatellite markers on Xp21.1-p11.22. Genomics. 1995;25:279-281.
-
(1995)
Genomics
, vol.25
, pp. 279-281
-
-
Thiselton, D.L.1
Lindsay, S.2
Kamakari, S.3
Hardcastle, A.J.4
Roustan, P.5
Bhattacharya, S.S.6
-
23
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996;380:152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
-
24
-
-
0025940605
-
Äland Island eye disease: Linkage data
-
Schwartzn M, Rosenberg T. Äland Island eye disease: Linkage data. Genomics. 1991;10:327-332.
-
(1991)
Genomics
, vol.10
, pp. 327-332
-
-
Schwartzn, M.1
Rosenberg, T.2
-
25
-
-
0026089211
-
Localization of the Aland Island eye disease locus to the pericentric region of the human X chromosome by linkage analysis
-
Alitalo T, Kruse TA, Forsius H, Eriksson AW, de la Chapelle A. Localization of the Aland Island eye disease locus to the pericentric region of the human X chromosome by linkage analysis. Am J Hum Genet. 1991;48:31-38.
-
(1991)
Am J Hum Genet.
, vol.48
, pp. 31-38
-
-
Alitalo, T.1
Kruse, T.A.2
Forsius, H.3
Eriksson, A.W.4
De La Chapelle, A.5
-
26
-
-
0027482799
-
Genetic mapping of a cone and rod dysfunction (AIED) to the proximal short arm of the human X chromosome
-
Glass IA, Good P, Coleman MP, et al. Genetic mapping of a cone and rod dysfunction (AIED) to the proximal short arm of the human X chromosome. J Med Genet. 1993;30:1044-1050.
-
(1993)
J Med Genet.
, vol.30
, pp. 1044-1050
-
-
Glass, I.A.1
Good, P.2
Coleman, M.P.3
-
27
-
-
15844378213
-
A gene (RPGR) with homology to the RCCI guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
-
Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCCI guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet. 1996;13:35-42.
-
(1996)
Nat Genet.
, vol.13
, pp. 35-42
-
-
Meindl, A.1
Dry, K.2
Herrmann, K.3
-
28
-
-
0029856584
-
Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1-p11.4
-
Bergen AAB, ten Brink JB, Riemslag F, et al. Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1-p11.4. J Med Genet. 1996; 33:869-872.
-
(1996)
J Med Genet.
, vol.33
, pp. 869-872
-
-
Bergen, A.A.B.1
Ten Brink, J.B.2
Riemslag, F.3
-
29
-
-
4244154246
-
RPGR mutation analysis in patients with retinitis pigmentosa and congenital stationary night blindness
-
Herrmann K, Meindl A, Apfelstedt-Sylla E, et al. RPGR mutation analysis in patients with retinitis pigmentosa and congenital stationary night blindness. Am J Hum Genet. 1996;59:1518.
-
(1996)
Am J Hum Genet.
, vol.59
, pp. 1518
-
-
Herrmann, K.1
Meindl, A.2
Apfelstedt-Sylla, E.3
-
30
-
-
0027138447
-
Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3
-
Bergen AA, Meire F, ten Brink J, Schuurman EJ, van Ommen GJ, Delleman JW. Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3. Genomics. 1993; 18:463-464.
-
(1993)
Genomics
, vol.18
, pp. 463-464
-
-
Bergen, A.A.1
Meire, F.2
Ten Brink, J.3
Schuurman, E.J.4
Van Ommen, G.J.5
Delleman, J.W.6
-
31
-
-
0028126874
-
Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1)
-
Hong H-K, Ferrell RE, Gorin MB. Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). Am J Hum Genet. 1994;55:1173-1181.
-
(1994)
Am J Hum Genet.
, vol.55
, pp. 1173-1181
-
-
Hong, H.-K.1
Ferrell, R.E.2
Gorin, M.B.3
-
32
-
-
84889219218
-
Localization of X-linked cone-rod dystrophy (COD-1) to a limited region of Xp11.4-p11.3 that encompasses the RP2 locus
-
Dash-Modi A, Seymour AB, Stefco T. Localization of X-linked cone-rod dystrophy (COD-1) to a limited region of Xp11.4-p11.3 that encompasses the RP2 locus. Invest Ophthalmol Vis Sci. 1996;31:4582.
-
(1996)
Invest Ophthalmol Vis Sci.
, vol.31
, pp. 4582
-
-
Dash-Modi, A.1
Seymour, A.B.2
Stefco, T.3
-
33
-
-
0027998708
-
Heterogeneity analysis in 40 X-linked retinitis pigmentosa families
-
Teague PW, Aldred MA, Jay M, et al. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet. 1994;55:105-111.
-
(1994)
Am J Hum Genet.
, vol.55
, pp. 105-111
-
-
Teague, P.W.1
Aldred, M.A.2
Jay, M.3
-
34
-
-
8944241311
-
Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
-
Roepman R, van Dujnhoven G, Rosenberg T, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet. 1996;5:1043-1046.
-
(1996)
Hum Mol Genet.
, vol.5
, pp. 1043-1046
-
-
Roepman, R.1
Van Dujnhoven, G.2
Rosenberg, T.3
-
35
-
-
0029020995
-
X-linked dominant conerod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11
-
McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR, Daiger SP. X-linked dominant conerod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11. Am J Hum Genet. 1995;57:87-94.
-
(1995)
Am J Hum Genet.
, vol.57
, pp. 87-94
-
-
McGuire, R.E.1
Sullivan, L.S.2
Blanton, S.H.3
Church, M.W.4
Heckenlively, J.R.5
Daiger, S.P.6
-
36
-
-
0025190712
-
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multiple homogeneity tests
-
Ott J, Bhattacharya S, Chen JD, et al. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multiple homogeneity tests. Proc Natl Acad Sci U S A. 1990;87:701-704.
-
(1990)
Proc Natl Acad Sci U S A
, vol.87
, pp. 701-704
-
-
Ott, J.1
Bhattacharya, S.2
Chen, J.D.3
-
37
-
-
0027248046
-
X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus
-
Ravia Y, Braler-Goldstein O, Bat-Miriam KM, Erlich S, Barkai G, Goldman B. X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus. Hum Mol Genet. 1993;2:1295-1297.
-
(1993)
Hum Mol Genet.
, vol.2
, pp. 1295-1297
-
-
Ravia, Y.1
Braler-Goldstein, O.2
Bat-Miriam, K.M.3
Erlich, S.4
Barkai, G.5
Goldman, B.6
-
38
-
-
0026935145
-
Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins
-
Meindl A, W Berger, T Meitinger, et al. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nat Genet. 1993;2:139-143.
-
(1993)
Nat Genet.
, vol.2
, pp. 139-143
-
-
Meindl, A.1
Berger, W.2
Meitinger, T.3
-
39
-
-
0027367772
-
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
-
Chen ZY, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet. 1993;5:180-183.
-
(1993)
Nat Genet.
, vol.5
, pp. 180-183
-
-
Chen, Z.Y.1
Battinelli, E.M.2
Fielder, A.3
|