-
1
-
-
0002621480
-
X-linked retinitis pigmentosa
-
Wright AF, Jay B (eds) Harwood Academic, Chur, Switzerland
-
Aldred MA, Jay M, Wright AF (1994) X-linked retinitis pigmentosa. In: Wright AF, Jay B (eds) Molecular genetics of inherited eye disorders. Harwood Academic, Chur, Switzerland, pp 259-276
-
(1994)
Molecular Genetics of Inherited Eye Disorders
, pp. 259-276
-
-
Aldred, M.A.1
Jay, M.2
Wright, A.F.3
-
2
-
-
0030756190
-
Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene
-
Andréasson S, Ponjavic V, Abrahamson M, Ehinger B, Wu W, Fujita R, Buraczynska M, et al (1997) Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. Am J Ophthalmol 124:95-102
-
(1997)
Am J Ophthalmol
, vol.124
, pp. 95-102
-
-
Andréasson, S.1
Ponjavic, V.2
Abrahamson, M.3
Ehinger, B.4
Wu, W.5
Fujita, R.6
Buraczynska, M.7
-
3
-
-
0027373815
-
Full-field electroretinogram in a patient with cutaneous melanoma-associated retinopathy
-
Andréasson S, Ponjavic V, Ehinger B (1993) Full-field electroretinogram in a patient with cutaneous melanoma-associated retinopathy. Acta Ophthalmol 71:487-490
-
(1993)
Acta Ophthalmol
, vol.71
, pp. 487-490
-
-
Andréasson, S.1
Ponjavic, V.2
Ehinger, B.3
-
4
-
-
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, Price WH, Phillips CI, McKeown CME, Jay M, et al (1984) Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 309:253-255
-
(1984)
Nature
, vol.309
, pp. 253-255
-
-
Bhattacharya, S.S.1
Wright, A.F.2
Clayton, J.F.3
Price, W.H.4
Phillips, C.I.5
McKeown, C.M.E.6
Jay, M.7
-
5
-
-
0029006578
-
A two-step mechanism for 5′ and 3′ splice-site pairing
-
Chiara MD, Reed R (1995) A two-step mechanism for 5′ and 3′ splice-site pairing. Nature 375:510-513
-
(1995)
Nature
, vol.375
, pp. 510-513
-
-
Chiara, M.D.1
Reed, R.2
-
6
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction
-
Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
7
-
-
0029872313
-
Blindness and the X
-
Egan SE, McInnes RR (1996) Blindness and the X. Nature 381:194-195
-
(1996)
Nature
, vol.381
, pp. 194-195
-
-
Egan, S.E.1
McInnes, R.R.2
-
8
-
-
0029980134
-
A recombination outside the BB deletion refines the location of the X-linked retinitis pigmentosa locus RP3
-
Fujita R, Bingham E, Forsythe P, McHenry C, Aita V, Navia BA, Dry K, et al (1996) A recombination outside the BB deletion refines the location of the X-linked retinitis pigmentosa locus RP3. Am J Hum Genet 59:152-158
-
(1996)
Am J Hum Genet
, vol.59
, pp. 152-158
-
-
Fujita, R.1
Bingham, E.2
Forsythe, P.3
McHenry, C.4
Aita, V.5
Navia, B.A.6
Dry, K.7
-
9
-
-
0030568583
-
RPGR: Part one of the X-linked retinitis pigmentosa story
-
Fujita R, Swaroop A (1996) RPGR: part one of the X-linked retinitis pigmentosa story. Mol Vis 2:4, http:// www.emory.edu/MOLECULAR_VISION/v2fujita
-
(1996)
Mol Vis
, vol.2
, pp. 4
-
-
Fujita, R.1
Swaroop, A.2
-
11
-
-
0024363398
-
Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa
-
Jacobson SG, Yagasaki K, Feuer WJ, Roman A (1989) Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa. Exp Eye Res 48:679-691
-
(1989)
Exp Eye Res
, vol.48
, pp. 679-691
-
-
Jacobson, S.G.1
Yagasaki, K.2
Feuer, W.J.3
Roman, A.4
-
12
-
-
0021111107
-
RNA splice site selection: Evidence for a 5′-3′ scanning model
-
Lang KM, Spritz RA (1983) RNA splice site selection: evidence for a 5′-3′ scanning model. Science 220:1351-1355
-
(1983)
Science
, vol.220
, pp. 1351-1355
-
-
Lang, K.M.1
Spritz, R.A.2
-
13
-
-
0029835707
-
Defects in RNA splicing and the consequence of shortened translational reading frames
-
Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
-
(1996)
Am J Hum Genet
, vol.59
, pp. 279-286
-
-
Maquat, L.E.1
-
14
-
-
0029020995
-
X-linked dominant cone-rod 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 (1995) X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11. Am J Hum Genet 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
-
15
-
-
0028886728
-
A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa
-
Meindl A, Carvalho MRS, Hermann K, Lorenz B, Achatz H, Lorenz B, Apfelstedt-Sylla E, et al (1995) A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa. Hum Mol Genet 4:2339-2346
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2339-2346
-
-
Meindl, A.1
Carvalho, M.R.S.2
Hermann, K.3
Lorenz, B.4
Achatz, H.5
Lorenz, B.6
Apfelstedt-Sylla, E.7
-
16
-
-
15844378213
-
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutation in X-linked retinitis pigmentosa (RP3)
-
Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MRS, et al (1996) A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutation in X-linked retinitis pigmentosa (RP3). Nat Genet 13:35-42
-
(1996)
Nat Genet
, vol.13
, pp. 35-42
-
-
Meindl, A.1
Dry, K.2
Herrmann, K.3
Manson, F.4
Ciccodicola, A.5
Edgar, A.6
Carvalho, M.R.S.7
-
17
-
-
0025064781
-
Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families
-
Musarella MA, Anson-Cartwright L, Leal SM, Gilbert LD, Worton RG, Fishman GA, Ott J (1990) Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics 8:286-296
-
(1990)
Genomics
, vol.8
, pp. 286-296
-
-
Musarella, M.A.1
Anson-Cartwright, L.2
Leal, S.M.3
Gilbert, L.D.4
Worton, R.G.5
Fishman, G.A.6
Ott, J.7
-
18
-
-
0025953114
-
Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed field gel electrophoresis
-
Musarella MA, Anson-Cartwright L, McDowell C, Burghes A, Coulson SE, Worton RG, Rommens JM (1991) Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed field gel electrophoresis. Genomics 11:263-272
-
(1991)
Genomics
, vol.11
, pp. 263-272
-
-
Musarella, M.A.1
Anson-Cartwright, L.2
McDowell, C.3
Burghes, A.4
Coulson, S.E.5
Worton, R.G.6
Rommens, J.M.7
-
19
-
-
0025190712
-
Localizing multiple X-chromosome-Iinked retinitis pigmentosa loci using multilocus homogeneity tests
-
Ott J, Bhattacharya SS, Chen JD, Denton MJ, Donald J, Dubay C, Farrar GJ, et al (1990) Localizing multiple X-chromosome-Iinked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci USA 87:701-704
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 701-704
-
-
Ott, J.1
Bhattacharya, S.S.2
Chen, J.D.3
Denton, M.J.4
Donald, J.5
Dubay, C.6
Farrar, G.J.7
-
20
-
-
0029922975
-
The 5′ and 3′ splice sites come together via a three dimensional diffusion mechanism
-
Pasman Z, Garcia-Blanco MA (1996) The 5′ and 3′ splice sites come together via a three dimensional diffusion mechanism. Nucleic Acids Res 24:1638-1645
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 1638-1645
-
-
Pasman, Z.1
Garcia-Blanco, M.A.2
-
21
-
-
15844362841
-
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)
-
Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, et al (1996a) Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). Hum Mol Genet 5: 827-833
-
(1996)
Hum Mol Genet
, vol.5
, pp. 827-833
-
-
Roepman, R.1
Bauer, D.2
Rosenberg, T.3
Van Duijnhoven, G.4
Van De Vosse, E.5
Platzer, M.6
Rosenthal, A.7
-
22
-
-
8944241311
-
Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
-
Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJLG, Bleeker-Wagemakers LM, Bergen AAB, Post J, et al (1996b) Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet 5:1035-1041
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1035-1041
-
-
Roepman, R.1
Van Duijnhoven, G.2
Rosenberg, T.3
Pinckers, A.J.L.G.4
Bleeker-Wagemakers, L.M.5
Bergen, A.A.B.6
Post, J.7
-
23
-
-
0029592802
-
Diagnostic issues with inherited retinal and macular dystrophies
-
Gorin M (ed) WB Saunders, Philadelphia
-
Sieving PA (1995) Diagnostic issues with inherited retinal and macular dystrophies. In: Gorin M (ed) Seminars in ophthalmology. Vol 10. WB Saunders, Philadelphia, pp 279-294
-
(1995)
Seminars in Ophthalmology.
, vol.10
, pp. 279-294
-
-
Sieving, P.A.1
-
24
-
-
0027214101
-
Scanning and competition between AGs are involved in 3′ splice site selection in mammalian introns
-
Smith CWJ, Chu TT, Nadal-Ginard B (1993) Scanning and competition between AGs are involved in 3′ splice site selection in mammalian introns. Mol Cell Biol 13:4939-4952
-
(1993)
Mol Cell Biol
, vol.13
, pp. 4939-4952
-
-
Smith, C.W.J.1
Chu, T.T.2
Nadal-Ginard, B.3
-
25
-
-
0027998708
-
Heterogeneity analysis in 40 X-linked retinitis pigmentosa families
-
Teague PW, Aldred MA, Jay M, Dempster M, Harrison C, Carothers AD, Hardwick LJ, et al (1994) Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet 55:105-111
-
(1994)
Am J Hum Genet
, vol.55
, pp. 105-111
-
-
Teague, P.W.1
Aldred, M.A.2
Jay, M.3
Dempster, M.4
Harrison, C.5
Carothers, A.D.6
Hardwick, L.J.7
-
26
-
-
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, Maldergem LV, Wolf ML, Saha BK, Bhattacharya SS, et al (1996) 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 6: 1093-1102
-
(1996)
Genome Res
, vol.6
, pp. 1093-1102
-
-
Thiselton, D.L.1
Hampson, R.M.2
Nayudu, M.3
Maldergem, L.V.4
Wolf, M.L.5
Saha, B.K.6
Bhattacharya, S.S.7
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