-
1
-
-
0029842023
-
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration
-
Keen TJ, Ingleheam CF. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. Hum Mutat 1996;8:297-303.
-
(1996)
Hum Mutat
, vol.8
, pp. 297-303
-
-
Keen, T.J.1
Ingleheam, C.F.2
-
2
-
-
0025827541
-
The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA
-
Travis GH, Christerson L, Danielson PE, Klisak I, Sparkes RS, Hahn LB, et al. The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA. Genomics 1991;10:733-9.
-
(1991)
Genomics
, vol.10
, pp. 733-739
-
-
Travis, G.H.1
Christerson, L.2
Danielson, P.E.3
Klisak, I.4
Sparkes, R.S.5
Hahn, L.B.6
-
3
-
-
0026053969
-
The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein
-
Travis GH, Sutcliffe JG, Bok D. The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein. Neuron 1991;6:61-70.
-
(1991)
Neuron
, vol.6
, pp. 61-70
-
-
Travis, G.H.1
Sutcliffe, J.G.2
Bok, D.3
-
4
-
-
0027434085
-
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene
-
Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol 1993;111:1531-42.
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 1531-1542
-
-
Weleber, R.G.1
Carr, R.E.2
Murphey, W.H.3
Sheffield, V.C.4
Stone, E.M.5
-
5
-
-
0031890396
-
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation - And further refinement of genetic positioning of the peripherin/RDS gene
-
Payne AM, Downes SM, Bessant DA, Bird AC, Bhattacharya SS. Founder effect, seen in the British population, of the 172 peripherin/RDS mutation - and further refinement of genetic positioning of the peripherin/RDS gene. Am J Hum Genet 1998;62:192-5.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 192-195
-
-
Payne, A.M.1
Downes, S.M.2
Bessant, D.A.3
Bird, A.C.4
Bhattacharya, S.S.5
-
6
-
-
0031736241
-
A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration
-
Ekstrom U, Andreasson S, Ponjavic V, Abrahamson M, Sandgren O, Nilsson-Ehle P, et al. A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration. Ophthalmic Genet 1998;19:149-56.
-
(1998)
Ophthalmic Genet
, vol.19
, pp. 149-156
-
-
Ekstrom, U.1
Andreasson, S.2
Ponjavic, V.3
Abrahamson, M.4
Sandgren, O.5
Nilsson-Ehle, P.6
-
7
-
-
0029037935
-
A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy
-
Reig C, Serra A, Gean E, Vidal M, Arumi J, De la Calzada MD, et al. A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy. Ophthalmic Genet 1995;16:39-44.
-
(1995)
Ophthalmic Genet
, vol.16
, pp. 39-44
-
-
Reig, C.1
Serra, A.2
Gean, E.3
Vidal, M.4
Arumi, J.5
De la Calzada, M.D.6
-
8
-
-
0029589288
-
Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family
-
Nakazawa M, Wada Y, Tamai M. Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family. Retina 1995;15:518-23.
-
(1995)
Retina
, vol.15
, pp. 518-523
-
-
Nakazawa, M.1
Wada, Y.2
Tamai, M.3
-
9
-
-
0033386160
-
Clinical features of codon 172 RDS macular dystrophy: Similar phenotype in 12 families
-
Downes SM, Fitzke FW, Holder GE, Payne AM, Bessant DA, Bhattacharya SS, et al. Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families. Arch Ophthalmol 1999;117:1373-83.
-
(1999)
Arch Ophthalmol
, vol.117
, pp. 1373-1383
-
-
Downes, S.M.1
Fitzke, F.W.2
Holder, G.E.3
Payne, A.M.4
Bessant, D.A.5
Bhattacharya, S.S.6
-
10
-
-
0030446544
-
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene
-
Piguet B, Héon E, Munier FL, Grounauer PA, Niemeyer G, Butler N, et al. Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. Ophthalmic Genet 1996;17:175-86.
-
(1996)
Ophthalmic Genet
, vol.17
, pp. 175-186
-
-
Piguet, B.1
Héon, E.2
Munier, F.L.3
Grounauer, P.A.4
Niemeyer, G.5
Butler, N.6
-
11
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
Kajiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994;264:1604-8.
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
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