-
1
-
-
0019971687
-
On the heredity of retinitis pigmentosa
-
Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol. 1982;66:405-416.
-
(1982)
Br J Ophthalmol.
, vol.66
, pp. 405-416
-
-
Jay, M.1
-
2
-
-
0017838513
-
Retinitis pigmentosa: Genetic percentages
-
Fishman GA. Retinitis pigmentosa: genetic percentages. Arch Ophthalmol 1978;96:822-826.
-
(1978)
Arch Ophthalmol
, vol.96
, pp. 822-826
-
-
Fishman, G.A.1
-
3
-
-
0016491752
-
X-linked retinitis pigmentosa
-
Bird A. X-linked retinitis pigmentosa. Br J Ophthalmol. 1975;59: 177-199.
-
(1975)
Br J Ophthalmol.
, vol.59
, pp. 177-199
-
-
Bird, A.1
-
4
-
-
0025190712
-
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus heterogeneity tests
-
Ott J, Battacharya S, Chen JD, et al. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus heterogeneity tests. Proc Natl Acad Sci USA., 1990;87:701-704.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 701-704
-
-
Ott, J.1
Battacharya, S.2
Chen, J.D.3
-
5
-
-
15844378213
-
A gene (RPGR) with homology to the RCC1 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 RCC1 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
-
6
-
-
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 Gene. 1996;5:1035-1041.
-
(1996)
Hum Mol Gene.
, vol.5
, pp. 1035-1041
-
-
Roepman, R.1
Van Dujnhoven, G.2
Rosenberg, T.3
-
7
-
-
16944362660
-
Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: Paucity of mutations in the coding region but splice defects in two families
-
Fujita R, Buracvynska M, Gieser L, et al. Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. Am J Hum Genet. 1997;61:571-580.
-
(1997)
Am J Hum Genet.
, vol.61
, pp. 571-580
-
-
Fujita, R.1
Buracvynska, M.2
Gieser, L.3
-
8
-
-
17344363489
-
Positional cloning of the gene for X-linked retinitis pigmentosa 2
-
Schwahn U, Lenzner S, Dong J, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet 1998;19:327-332.
-
(1998)
Nat Genet
, vol.19
, pp. 327-332
-
-
Schwahn, U.1
Lenzner, S.2
Dong, J.3
-
9
-
-
0018411075
-
Sex-linked retinitis pigmentosa: Infrastructure of photoreceptors and pigment epithelium
-
Szamier RH, Herson EL, Klein R, Meyers S. Sex-linked retinitis pigmentosa: infrastructure of photoreceptors and pigment epithelium. Invest Ophthalmol Vis Sci. 1979;18:145-160.
-
(1979)
Invest Ophthalmol Vis Sci.
, vol.18
, pp. 145-160
-
-
Szamier, R.H.1
Herson, E.L.2
Klein, R.3
Meyers, S.4
-
10
-
-
0021948505
-
Retinal histopathology of a carrier of X-chromosome-linked retinitis pigmentosa
-
Szamier RB, Berson EL. Retinal histopathology of a carrier of X-chromosome-linked retinitis pigmentosa. Ophthalmology. 1985; 92:271-278.
-
(1985)
Ophthalmology
, vol.92
, pp. 271-278
-
-
Szamier, R.B.1
Berson, E.L.2
-
11
-
-
0030756190
-
Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene
-
Andreasson S, Ponjavic V, Abramson M, et al. Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene. Am J Ophthalmol. 1997; 124:95-102.
-
(1997)
Am J Ophthalmol.
, vol.124
, pp. 95-102
-
-
Andreasson, S.1
Ponjavic, V.2
Abramson, M.3
-
12
-
-
15644362762
-
Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene
-
Jacobson SG, Buraczynska M, Milam A, et al Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. Invest Ophthalmol Vis Sci. 1997;38:1983-1997.
-
(1997)
Invest Ophthalmol Vis Sci.
, vol.38
, pp. 1983-1997
-
-
Jacobson, S.G.1
Buraczynska, M.2
Milam, A.3
-
13
-
-
0030613014
-
Severe manifestations in carrier females in X-linked retinitis pigmentosa
-
Souied E, Segues B, Ghazi I, et al. Severe manifestations in carrier females in X-linked retinitis pigmentosa. J Med Genet. 1997;34: 793-797.
-
(1997)
J Med Genet.
, vol.34
, pp. 793-797
-
-
Souied, E.1
Segues, B.2
Ghazi, I.3
-
14
-
-
0031468640
-
X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR
-
Weleber RG, Butler NS, Murphey WH, Sheffield VC, Stone EM. X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR. Arch Ophthalmol. 1997; 115:1429-1435.
-
(1997)
Arch Ophthalmol.
, vol.115
, pp. 1429-1435
-
-
Weleber, R.G.1
Butler, N.S.2
Murphey, W.H.3
Sheffield, V.C.4
Stone, E.M.5
-
15
-
-
0026727151
-
X-linked retinitis pigmentosa: Functional phenotype of an RP2 genotype
-
Jacobson SG, Roman AJ, Cideciyan AV, Robey MG, Iwata T, Inana G. X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype. Invest Ophthalmol Vis Sci. 1992;33:3481-3492.
-
(1992)
Invest Ophthalmol Vis Sci.
, vol.33
, pp. 3481-3492
-
-
Jacobson, S.G.1
Roman, A.J.2
Cideciyan, A.V.3
Robey, M.G.4
Iwata, T.5
Inana, G.6
-
16
-
-
8244220326
-
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline
-
van den Hurk JA, Hendriks W, van de Pol DJ, et al. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Gene. 1997;6:851-858.
-
(1997)
Hum Mol Gene.
, vol.6
, pp. 851-858
-
-
Van Den Hurk, J.A.1
Hendriks, W.2
Van De Pol, D.J.3
-
17
-
-
0032101737
-
Non-cell-autonomous photoreceptor degeneration in rds mutant mice mosaic for expression of a rescue transgene
-
Kedzierski W, Bok D, Travis GH. Non-cell-autonomous photoreceptor degeneration in rds mutant mice mosaic for expression of a rescue transgene. J Neurosci. 1998 18:4076-4082.
-
(1998)
J Neurosci.
, vol.18
, pp. 4076-4082
-
-
Kedzierski, W.1
Bok, D.2
Travis, G.H.3
-
19
-
-
4243226553
-
Cloning of RPGR in a canine model of XLRP and characterization of novel splice variants
-
Abstract nr 4082
-
Zeiss CJ, Acland GM, Aguirre GD, Ray K. Cloning of RPGR in a canine model of XLRP and characterization of novel splice variants [ARVO Abstract]. Invest Ophthalmol Vis Sci. 1998;39(4):S881. Abstract nr 4082.
-
(1998)
Invest Ophthalmol Vis Sci.
, vol.39
, Issue.4
-
-
Zeiss, C.J.1
Acland, G.M.2
Aguirre, G.D.3
Ray, K.4
-
20
-
-
0032584734
-
Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)
-
Van D, Swain PK, Breuer D, et al. Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr). J Biol Chem 1998;273:19656-19663.
-
(1998)
J Biol Chem
, vol.273
, pp. 19656-19663
-
-
Van, D.1
Swain, P.K.2
Breuer, D.3
-
21
-
-
0032190665
-
A highly polymorphic RFLP marker in the canine retinitis pigmentosa GTPase regulator (RPGR) gene
-
Zeiss CJ, Aguirre GD, Ray K. A highly polymorphic RFLP marker in the canine retinitis pigmentosa GTPase regulator (RPGR) gene. Anim Genet 1998:29:409.
-
(1998)
Anim Genet
, vol.29
, pp. 409
-
-
Zeiss, C.J.1
Aguirre, G.D.2
Ray, K.3
-
22
-
-
0023320690
-
Retinal degenerations in the dog, IV: Early retinal degeneration in Norwegian elkhounds
-
Acland GM, Aguirre GD. Retinal degenerations in the dog, IV: early retinal degeneration in Norwegian elkhounds. Exp Eye Res. 1987; 44:491-521.
-
(1987)
Exp Eye Res.
, vol.44
, pp. 491-521
-
-
Acland, G.M.1
Aguirre, G.D.2
-
23
-
-
0030882941
-
Identical mutations and phenotypic variation
-
Wolf U. Identical mutations and phenotypic variation. Hum Genet. 1997;100:305-321.
-
(1997)
Hum Genet.
, vol.100
, pp. 305-321
-
-
Wolf, U.1
-
24
-
-
0027521663
-
A mutation in CFTR produces different phenotypes depending on chromosomal background
-
Kieseweter S, Macek M, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet. 1993;5:274-278.
-
(1993)
Nat Genet.
, vol.5
, pp. 274-278
-
-
Kieseweter, S.1
Macek, M.2
Davis, C.3
-
25
-
-
13344282728
-
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
-
Rozmahel R, Wilschanski M, Matin A, et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet. 1996;12: 280-287.
-
(1996)
Nat Genet.
, vol.12
, pp. 280-287
-
-
Rozmahel, R.1
Wilschanski, M.2
Matin, A.3
-
26
-
-
0029921704
-
FMR I fully expanded mutation with minimal methylation in a high functioning fragile X male
-
Wang Z, Taylor AK, Bridge JA. FMR I fully expanded mutation with minimal methylation in a high functioning fragile X male. J Med Genet. 1996;33:376-378.
-
(1996)
J Med Genet.
, vol.33
, pp. 376-378
-
-
Wang, Z.1
Taylor, A.K.2
Bridge, J.A.3
-
28
-
-
0024538020
-
Degenerative changes in a retina affected with autosomal dominant retinitis pigmentosa
-
Flannery JG, Farber D, Bird AC, Bok D. Degenerative changes in a retina affected with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1989;30:191-211.
-
(1989)
Invest Ophthalmol Vis Sci.
, vol.30
, pp. 191-211
-
-
Flannery, J.G.1
Farber, D.2
Bird, A.C.3
Bok, D.4
-
29
-
-
0017762737
-
Retinal ultrastructure in advanced retinitis pigmentosa
-
Szamier BR, Berson EL. Retinal ultrastructure in advanced retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1977;16:947-962.
-
(1977)
Invest Ophthalmol Vis Sci.
, vol.16
, pp. 947-962
-
-
Szamier, B.R.1
Berson, E.L.2
-
30
-
-
0016169602
-
Electron microscopic observations of human retinitis pigmentosa, dominantly inherited
-
Kolb H, Gouras P. Electron microscopic observations of human retinitis pigmentosa, dominantly inherited. Invest Ophthalmol Vis Sci. 1974;13:487-498.
-
(1974)
Invest Ophthalmol Vis Sci.
, vol.13
, pp. 487-498
-
-
Kolb, H.1
Gouras, P.2
-
31
-
-
0023008998
-
Progressive retinal atrophy in the Abyssinian cat
-
Narfström K, Nilsson SE. Progressive retinal atrophy in the Abyssinian cat. Invest Ophthalmol Vis Sci. 1986;27:1569-1576.
-
(1986)
Invest Ophthalmol Vis Sci.
, vol.27
, pp. 1569-1576
-
-
Narfström, K.1
Nilsson, S.E.2
-
32
-
-
0020359828
-
Retinal degeneration in the pcd cerebellar mutant mouse, II: Electron microscopic analysis
-
Blanks JC, Mullen RJ, LaVail MM. Retinal degeneration in the pcd cerebellar mutant mouse, II: electron microscopic analysis. J Comp Neurol. 1982;212:231-246.
-
(1982)
J Comp Neurol.
, vol.212
, pp. 231-246
-
-
Blanks, J.C.1
Mullen, R.J.2
LaVail, M.M.3
-
33
-
-
0023917130
-
Variation in retinal degeneration phenotype inherited at the prcd locus
-
Aguirre GD, Acland GM. Variation in retinal degeneration phenotype inherited at the prcd locus Exp Eye Res. 1988;46:663-687.
-
(1988)
Exp Eye Res.
, vol.46
, pp. 663-687
-
-
Aguirre, G.D.1
Acland, G.M.2
|