-
1
-
-
0020657951
-
Retinitis pigmentosa symposium on terminology and methods of examination
-
Marmor MF, Aguirre G, Arden G, et al. Retinitis pigmentosa symposium on terminology and methods of examination. Ophthalmology. 1983;90:126-131.
-
(1983)
Ophthalmology
, vol.90
, pp. 126-131
-
-
Marmor, M.F.1
Aguirre, G.2
Arden, G.3
-
3
-
-
0036482801
-
Epidemiology of retinitis pigmentosa in Denmark
-
Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl. 2002;233:1-34.
-
(2002)
Acta Ophthalmol Scand Suppl
, vol.233
, pp. 31-34
-
-
Haim, M.1
-
5
-
-
34147097300
-
Retinitis pigmentosa
-
Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006;11:1-40.
-
(2006)
Orphanet J Rare Dis
, vol.11
, pp. 1-40
-
-
Hamel, C.1
-
6
-
-
33846957381
-
Perspective on genes and mutations causing retinitis pigmentosa
-
Daiger SP, Bowne SJ, Sullivan LS. Perspective on genes and mutations causing retinitis pigmentosa. Arch Ophthalmol. 2007;125:151-158.
-
(2007)
Arch Ophthalmol
, vol.125
, pp. 151-158
-
-
Daiger, S.P.1
Bowne, S.J.2
Sullivan, L.S.3
-
7
-
-
0026058548
-
Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa
-
Sung CH, Schneider BG, Agarwal N, et al. Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci USA. 1991;88:8840-8844.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 8840-8844
-
-
Sung, C.H.1
Schneider, B.G.2
Agarwal, N.3
-
8
-
-
0031016243
-
Rhodopsin mutations in inherited retinal dystrophies and dysfunctions
-
Gal A, Apfelsted-Sylla E, Janecke AR, et al. Rhodopsin mutations in inherited retinal dystrophies and dysfunctions. Prog Retin Eye Res. 1997;16:51-79.
-
(1997)
Prog Retin Eye Res
, vol.16
, pp. 51-79
-
-
Gal, A.1
Apfelsted-Sylla, E.2
Janecke, A.R.3
-
9
-
-
27744590631
-
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa
-
Schuster A, Weisschuch N, Jägle H, et al. Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa. Br J Ophthalmol. 2005; 89:1258-1264.
-
(2005)
Br J Ophthalmol
, vol.89
, pp. 1258-1264
-
-
Schuster, A.1
Weisschuch, N.2
Jägle, H.3
-
10
-
-
33750628594
-
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects
-
Iannaccone A, Man D, Waseem N, et al. Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. Vision Res. 2006;46:4556-4567.
-
(2006)
Vision Res
, vol.46
, pp. 4556-4567
-
-
Iannaccone, A.1
Man, D.2
Waseem, N.3
-
11
-
-
0030931136
-
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa
-
Dryja TP, Hahn LB, Kajiwara K, et al. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1997;38:1972-1982.
-
(1997)
Invest Ophthalmol Vis Sci
, vol.38
, pp. 1972-1982
-
-
Dryja, T.P.1
Hahn, L.B.2
Kajiwara, K.3
-
12
-
-
0035162582
-
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
-
Sohocki MM, Daiger SP, Bowne SJ, et al. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17:42-51.
-
(2001)
Hum Mutat
, vol.17
, pp. 42-51
-
-
Sohocki, M.M.1
Daiger, S.P.2
Bowne, S.J.3
-
13
-
-
0035171024
-
Rhodopsin structure, function, and topography. The Friedenwald lecture
-
Hargrave PA. Rhodopsin structure, function, and topography. The Friedenwald lecture. Invest Ophthalmol Vis Sci. 2001;42:3-9.
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 3-9
-
-
Hargrave, P.A.1
-
14
-
-
33845510734
-
The role of RDS in outer segment morphogenesis and human retinal disease
-
Farjo R, Naash MI. The role of RDS in outer segment morphogenesis and human retinal disease. Ophthalmic Genet. 2006;27:117-122.
-
(2006)
Ophthalmic Genet
, vol.27
, pp. 117-122
-
-
Farjo, R.1
Naash, M.I.2
-
15
-
-
0025721075
-
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
-
Farrar GJ, Kenna P, Jordan SA, et al. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature. 1991;354:478-480.
-
(1991)
Nature
, vol.354
, pp. 478-480
-
-
Farrar, G.J.1
Kenna, P.2
Jordan, S.A.3
-
16
-
-
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, et al. 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 Ophthal. 1993;111:1531-1542.
-
(1993)
Arch Ophthal
, vol.111
, pp. 1531-1542
-
-
Weleber, R.G.1
Carr, R.E.2
Murphey, W.H.3
-
17
-
-
0031797571
-
Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS
-
Ekström U, Ponjavic V, Abrahamson M, et al. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS. Ophthalmic Genet. 1998;19:27-37.
-
(1998)
Ophthalmic Genet
, vol.19
, pp. 27-37
-
-
Ekström, U.1
Ponjavic, V.2
Abrahamson, M.3
-
18
-
-
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;264:1604-1608.
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
19
-
-
6344254498
-
A novel RDS/peripherin gene mutation associated with diverse macular phenotypes
-
DOI 10.1080/13816810490514388
-
Yang Z, Li Y, Jiang L, et al. A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. Ophthalmic Genet. 2004;25:133-145. (Pubitemid 39387185)
-
(2004)
Ophthalmic Genetics
, vol.25
, Issue.2
, pp. 133-145
-
-
Yang, Z.1
Li, Y.2
Jiang, L.3
Karan, G.4
Moshfeghi, D.M.5
O'Connor, S.T.6
Li, X.7
Yu, Z.8
Lewis, H.9
Zack, D.J.10
Jacobson, S.G.11
Zhang, K.12
-
20
-
-
33845501899
-
Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/ RDS gene
-
Keilhauer CN, Meigen T, Stöhr H, et al. Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/ RDS gene. Ophthalmic Genet. 2006;27:139-144.
-
(2006)
Ophthalmic Genet
, vol.27
, pp. 139-144
-
-
Keilhauer, C.N.1
Meigen, T.2
Stöhr, H.3
-
21
-
-
46549086021
-
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
-
Boon CJ, den Hollander AI, Hoyng CB, et al. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008;27: 213-235.
-
(2008)
Prog Retin Eye Res
, vol.27
, pp. 213-235
-
-
Boon, C.J.1
Den Hollander, A.I.2
Hoyng, C.B.3
-
22
-
-
34347388837
-
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population
-
Gamundi MJ, Hernan I, Muntanyola M, et al. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. Mol Vis. 2007;13:1031-1037.
-
(2007)
Mol Vis
, vol.13
, pp. 1031-1037
-
-
Gamundi, M.J.1
Hernan, I.2
Muntanyola, M.3
-
23
-
-
0032725952
-
Molecular analysis of the rhodopsin gene in southern France: Identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4
-
Bareil C, Hamel C, Pallarès-Ruiz N, et al. Molecular analysis of the rhodopsin gene in southern France: Identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4. Ophthalmic Genet. 1999;20:173-182.
-
(1999)
Ophthalmic Genet
, vol.20
, pp. 173-182
-
-
Bareil, C.1
Hamel, C.2
Pallarès-Ruiz, N.3
-
24
-
-
33646977544
-
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): A comprehensive study of 43 Italian families
-
Ziviello C, Simonelli F, Testa F, et al. Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): A comprehensive study of 43 Italian families. J Med Genet. 2005;42:e47.
-
(2005)
J Med Genet
, vol.42
-
-
Ziviello, C.1
Simonelli, F.2
Testa, F.3
-
25
-
-
16844364763
-
A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa
-
Zhang XL, Liu M, Meng XH, et al. A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa. Chin Med Sci J. 2005;20:30-34.
-
(2005)
Chin Med Sci J
, vol.20
, pp. 30-34
-
-
Zhang, X.L.1
Liu, M.2
Meng, X.H.3
-
26
-
-
0027030392
-
Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions
-
Jordan SA, Farrar GJ, Kenna P, et al. Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions. Hum Mutat. 1992;1:240-247.
-
(1992)
Hum Mutat
, vol.1
, pp. 240-247
-
-
Jordan, S.A.1
Farrar, G.J.2
Kenna, P.3
-
27
-
-
0031550520
-
Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens
-
Shastry BS, Trese MT. Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens. Biochem Biophys Res Commun. 1997;231:103-105.
-
(1997)
Biochem Biophys Res Commun
, vol.231
, pp. 103-105
-
-
Shastry, B.S.1
Trese, M.T.2
-
28
-
-
0036726480
-
Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP)
-
Millá E, Maseras M, Martínez-Gimeno M, et al. Genetic and molecular characterization of 148 patients with autosomal dominant retinitis pigmentosa (ADRP). Arch Soc Esp Oftalmol. 2002;77:481-484.
-
(2002)
Arch Soc Esp Oftalmol
, vol.77
, pp. 481-484
-
-
Millá, E.1
Maseras, M.2
Martínez-Gimeno, M.3
-
29
-
-
0028838320
-
A study on the rhodopsin gene in Japanese retinitis pigmentosa-screening of mutations by restriction endonucleases and frequencies of DNA polymorphisms
-
Kawano H, Hotta Y, Fujiki K, et al. A study on the rhodopsin gene in Japanese retinitis pigmentosa-screening of mutations by restriction endonucleases and frequencies of DNA polymorphisms. Nippon Ganka Gakkai Zasshi. 1995;99:1151-1157.
-
(1995)
Nippon Ganka Gakkai Zasshi
, vol.99
, pp. 1151-1157
-
-
Kawano, H.1
Hotta, Y.2
Fujiki, K.3
-
30
-
-
34447288491
-
Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa
-
Ando Y, Ohmori M, Ohtake H, et al. Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa. Mol Vis. 2007;13:1038-1044.
-
(2007)
Mol Vis
, vol.13
, pp. 1038-1044
-
-
Ando, Y.1
Ohmori, M.2
Ohtake, H.3
-
31
-
-
0031724967
-
Detection of alterations in all three exons of the peripherin/ RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system
-
Ekström U, Ponjavic V, Andréasson S, et al. Detection of alterations in all three exons of the peripherin/ RDS gene in Swedish patients with retinitis pigmentosa using an efficient DGGE system. Mol Pathol. 1998;51: 287-291.
-
(1998)
Mol Pathol
, vol.51
, pp. 287-291
-
-
Ekström, U.1
Ponjavic, V.2
Andréasson, S.3
-
32
-
-
0025720710
-
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
-
Kajiwara K, Hahn LB, Mukai S, et al. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature. 1991;354: 480-483.
-
(1991)
Nature
, vol.354
, pp. 480-483
-
-
Kajiwara, K.1
Hahn, L.B.2
Mukai, S.3
-
33
-
-
33746681394
-
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: A screen of known genes in 200 families
-
Sullivan LS, Bowne SJ, Birch DG, et al. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: A screen of known genes in 200 families. Invest Ophthalmol Vis Sci 2006;47: 3052-3064.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 3052-3064
-
-
Sullivan, L.S.1
Bowne, S.J.2
Birch, D.G.3
-
34
-
-
0029828733
-
Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations
-
Pannarale MR, Grammatico B, Iannaccone A, et al. Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations. Ophthalmology. 1996;103:1443-1452.
-
(1996)
Ophthalmology
, vol.103
, pp. 1443-1452
-
-
Pannarale, M.R.1
Grammatico, B.2
Iannaccone, A.3
-
35
-
-
0003098244
-
Clinical features of autosomal dominant retinitis pigmentosa associated with Ser186Trp mutation of rhodopsin
-
RE Anderson et al. (Eds.). New York: Plenum Press
-
Rûther K, Ballestrem CL, Mûller A, et al. Clinical features of autosomal dominant retinitis pigmentosa associated with Ser186Trp mutation of rhodopsin. In: RE Anderson et al. (Eds.). Degenerative Diseases of the Retina. New York: Plenum Press, 1995, pp. 303-312.
-
(1995)
Degenerative Diseases of the Retina
, pp. 303-312
-
-
Rûther, K.1
Ballestrem, C.L.2
Mûller, A.3
-
36
-
-
0031002894
-
Single amino acid residue as a functional determinant of rod and cone visual pigments
-
Imai H, Kojima D, Oura T, et al. Single amino acid residue as a functional determinant of rod and cone visual pigments. Proc Natl Acad Sci USA. 1997;94: 2322-2326.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 2322-2326
-
-
Imai, H.1
Kojima, D.2
Oura, T.3
-
37
-
-
0033693769
-
Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa
-
Budu, Matsumoto M, Hayasaka S, et al. Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa. Jpn J Ophthalmol. 2000;44:610-614.
-
(2000)
Jpn J Ophthalmol
, vol.44
, pp. 610-614
-
-
Budu Matsumoto, M.1
Hayasaka, S.2
-
38
-
-
0027245562
-
Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin
-
Kranich H, Bartkowski S, Denton MJ, et al. Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. Hum Mol Genet. 1993;2:813-814.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 813-814
-
-
Kranich, H.1
Bartkowski, S.2
Denton, M.J.3
-
39
-
-
0027452380
-
A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease
-
Sullivan LJ, Makris GS, Dickinson P, et al. A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease. Arch Ophthalmol. 1993;111:1512-1517.
-
(1993)
Arch Ophthalmol
, vol.111
, pp. 1512-1517
-
-
Sullivan, L.J.1
Makris, G.S.2
Dickinson, P.3
-
40
-
-
6844260558
-
Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation
-
Yoshii M, Murakami A, Akeo K, et al. Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation. Ophthalmic Res. 1998;30:1-10.
-
(1998)
Ophthalmic Res
, vol.30
, pp. 1-10
-
-
Yoshii, M.1
Murakami, A.2
Akeo, K.3
-
41
-
-
0029797045
-
G106R rhodopsin mutation is also present in Spanish ADRP patients
-
Ayuso C, Reig C, Garcia-Sandoval B, et al. G106R rhodopsin mutation is also present in Spanish ADRP patients. Ophthalmic Genet. 1996;17:95-101.
-
(1996)
Ophthalmic Genet
, vol.17
, pp. 95-101
-
-
Ayuso, C.1
Reig, C.2
Garcia-Sandoval, B.3
-
42
-
-
0026849620
-
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa
-
Inglehearn CF, Keen TJ, Bashir R, et al. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Molec Genet. 1992;1:41-45.
-
(1992)
Hum Molec Genet
, vol.1
, pp. 41-45
-
-
Inglehearn, C.F.1
Keen, T.J.2
Bashir, R.3
-
43
-
-
0025967305
-
Autosomal dominant sectoral retinitis pigmentosa: Two families with transversion mutation in codon 23 of rhodopsin
-
Heckenlively JR, Rodriguez JA, Daiger SP. Autosomal dominant sectoral retinitis pigmentosa: Two families with transversion mutation in codon 23 of rhodopsin. Arch. Ophthal. 1991;109:84-91.
-
(1991)
Arch. Ophthal
, vol.109
, pp. 84-91
-
-
Heckenlively, J.R.1
Rodriguez, J.A.2
Daiger, S.P.3
-
44
-
-
0028575408
-
Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four
-
Bell C, Converse CA, Hammer HM, et al. Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four. Br J Ophthalmol. 1994;78:933-938.
-
(1994)
Br J Ophthalmol
, vol.78
, pp. 933-938
-
-
Bell, C.1
Converse, C.A.2
Hammer, H.M.3
-
45
-
-
0011377363
-
Genetic and epidemiological study of autosomal dominant (adRP) and autosomal recessive (arRP) retinitis pigmentosa in Sardinia
-
JG Hollyfield et al. (Eds.). New York: Plenum Press
-
Fossarello M, Serra A, Mansfield D, et al. Genetic and epidemiological study of autosomal dominant (adRP) and autosomal recessive (arRP) retinitis pigmentosa in Sardinia. In: JG Hollyfield et al. (Eds.). Retinal Degeneration. New York: Plenum Press, 1993; pp. 79-90.
-
(1993)
Retinal Degeneration
, pp. 79-90
-
-
Fossarello, M.1
Serra, A.2
Mansfield, D.3
-
46
-
-
34548076673
-
An intramembrane glutamic acid governs peripherin/rds function for photoreceptor disk morphogenesis
-
Goldberg AF, Ritter LM, Khattree N, et al. An intramembrane glutamic acid governs peripherin/rds function for photoreceptor disk morphogenesis. Invest Ophthalmol Vis Sci. 2007;48:2975-2986.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 2975-2986
-
-
Goldberg, A.F.1
Ritter, L.M.2
Khattree, N.3
|