-
1
-
-
0027300621
-
cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein
-
Andres D.A., Seabra M.C., Brown M.S., et al. cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Cell 73 (1993) 1091-1099
-
(1993)
Cell
, vol.73
, pp. 1091-1099
-
-
Andres, D.A.1
Seabra, M.C.2
Brown, M.S.3
-
2
-
-
0030158607
-
New insights into the pathogenesis of choroideremia: a tale of two REPs
-
Seabra M.C. New insights into the pathogenesis of choroideremia: a tale of two REPs. Ophthalm Genet 17 (1996) 43-46
-
(1996)
Ophthalm Genet
, vol.17
, pp. 43-46
-
-
Seabra, M.C.1
-
3
-
-
7144223296
-
Gene action in X-chromosome of the mouse (Mus musculus L.)
-
Lyon M. Gene action in X-chromosome of the mouse (Mus musculus L.). Nature 190 (1961) 372-373
-
(1961)
Nature
, vol.190
, pp. 372-373
-
-
Lyon, M.1
-
4
-
-
0028783668
-
In vivo measurement of lipofuscin in Stargardt's disease-fundus flavimaculatus
-
Delori F.C., Staurenghi G., Arend O., et al. In vivo measurement of lipofuscin in Stargardt's disease-fundus flavimaculatus. Invest Ophthalmol Vis Sci 36 (1995) 2327-2331
-
(1995)
Invest Ophthalmol Vis Sci
, vol.36
, pp. 2327-2331
-
-
Delori, F.C.1
Staurenghi, G.2
Arend, O.3
-
5
-
-
0035069027
-
Fundus autofluorescence and development of geographic atrophy in age-related macular degeneration
-
Holz F.G., Bellman C., Staudt S., et al. Fundus autofluorescence and development of geographic atrophy in age-related macular degeneration. Invest Ophthalmol Vis Sci 42 (2001) 1051-1056
-
(2001)
Invest Ophthalmol Vis Sci
, vol.42
, pp. 1051-1056
-
-
Holz, F.G.1
Bellman, C.2
Staudt, S.3
-
6
-
-
0035134363
-
Autofluorescence imaging of the macula [in German]
-
Holz F.G. Autofluorescence imaging of the macula [in German]. Ophthalmologe 98 (2001) 10-18
-
(2001)
Ophthalmologe
, vol.98
, pp. 10-18
-
-
Holz, F.G.1
-
7
-
-
0028953831
-
In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics
-
Delori F.C., Dorey C.K., Staurenghi G., et al. In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics. Invest Ophthalmol Vis Sci 36 (1995) 718-729
-
(1995)
Invest Ophthalmol Vis Sci
, vol.36
, pp. 718-729
-
-
Delori, F.C.1
Dorey, C.K.2
Staurenghi, G.3
-
8
-
-
20244373585
-
Isolation of intact lysosomes from human RPE cells and effects of A2-E on the integrity of the lysosomal and other cellular membranes
-
Schütt F., Bergmann M., Holz F.G., and Kopitz J. Isolation of intact lysosomes from human RPE cells and effects of A2-E on the integrity of the lysosomal and other cellular membranes. Graefes Arch Clin Exp Ophthalmol 240 (2002) 983-988
-
(2002)
Graefes Arch Clin Exp Ophthalmol
, vol.240
, pp. 983-988
-
-
Schütt, F.1
Bergmann, M.2
Holz, F.G.3
Kopitz, J.4
-
9
-
-
0029562829
-
Lipofuscin of the retinal pigment epithelium: a review
-
Kennedy C.J., Rakoczy P.E., and Constable I.J. Lipofuscin of the retinal pigment epithelium: a review. Eye 9 (1995) 763-771
-
(1995)
Eye
, vol.9
, pp. 763-771
-
-
Kennedy, C.J.1
Rakoczy, P.E.2
Constable, I.J.3
-
10
-
-
0030595978
-
Formation of lipofuscin-like fluorophores by reaction of retinal with photoreceptor outer segments and liposomes
-
Katz M.L., Gao C.L., and Rice L.M. Formation of lipofuscin-like fluorophores by reaction of retinal with photoreceptor outer segments and liposomes. Mech Ageing Dev 92 (1996) 159-174
-
(1996)
Mech Ageing Dev
, vol.92
, pp. 159-174
-
-
Katz, M.L.1
Gao, C.L.2
Rice, L.M.3
-
11
-
-
3543044979
-
Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data
-
Wegscheider E., Preising M.N., and Lorenz B. Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data. Graefes Arch Clin Exp Ophthalmol 242 (2004) 501-511
-
(2004)
Graefes Arch Clin Exp Ophthalmol
, vol.242
, pp. 501-511
-
-
Wegscheider, E.1
Preising, M.N.2
Lorenz, B.3
-
12
-
-
0035083014
-
Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia
-
Syed N., Smith J.E., John S.K., et al. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology 108 (2001) 711-720
-
(2001)
Ophthalmology
, vol.108
, pp. 711-720
-
-
Syed, N.1
Smith, J.E.2
John, S.K.3
-
13
-
-
32444439446
-
Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia
-
Tolmachova T., Anders R., Abrink M., et al. Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. J Clin Invest 116 (2006) 386-394
-
(2006)
J Clin Invest
, vol.116
, pp. 386-394
-
-
Tolmachova, T.1
Anders, R.2
Abrink, M.3
-
14
-
-
0036032865
-
Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15
-
Aguirre G.D., Yashar B.M., John S.K., et al. Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15. Exp Eye Res 75 (2002) 431-443
-
(2002)
Exp Eye Res
, vol.75
, pp. 431-443
-
-
Aguirre, G.D.1
Yashar, B.M.2
John, S.K.3
-
15
-
-
0345017855
-
Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene
-
Rudolph G., Preising M., Kalpadakis P., et al. Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene. Ophthalm Genet 24 (2003) 203-214
-
(2003)
Ophthalm Genet
, vol.24
, pp. 203-214
-
-
Rudolph, G.1
Preising, M.2
Kalpadakis, P.3
-
17
-
-
4344652909
-
Standard for clinical electroretinography (2004 update)
-
International Society for Clinical Electrophysiology of Vision
-
Marmor M.F., Holder G.E., Seeliger M.W., Yamamoto S., and International Society for Clinical Electrophysiology of Vision. Standard for clinical electroretinography (2004 update). Doc Ophthalmol 108 (2004) 107-114
-
(2004)
Doc Ophthalmol
, vol.108
, pp. 107-114
-
-
Marmor, M.F.1
Holder, G.E.2
Seeliger, M.W.3
Yamamoto, S.4
-
18
-
-
0038331670
-
Phenotype in two families with RP3 associated with RPGR mutations
-
Lorenz B., Andrassi M., and Kretschmann U. Phenotype in two families with RP3 associated with RPGR mutations. Ophthalmic Genet 24 (2003) 89-101
-
(2003)
Ophthalmic Genet
, vol.24
, pp. 89-101
-
-
Lorenz, B.1
Andrassi, M.2
Kretschmann, U.3
-
19
-
-
0036941358
-
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation
-
Gerth C., Andrassi-Darida M., Bock M., et al. Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. Graefes Arch Clin Exp Ophthalmol 240 (2002) 628-638
-
(2002)
Graefes Arch Clin Exp Ophthalmol
, vol.240
, pp. 628-638
-
-
Gerth, C.1
Andrassi-Darida, M.2
Bock, M.3
-
20
-
-
0037345620
-
Guidelines for basic multifocal electroretinography (mfERG)
-
International Society for Clinical Electrophysiology of Vision
-
Marmor M.F., Hood D.C., Keating D., et al., International Society for Clinical Electrophysiology of Vision. Guidelines for basic multifocal electroretinography (mfERG). Doc Ophthalmol 106 (2003) 105-115
-
(2003)
Doc Ophthalmol
, vol.106
, pp. 105-115
-
-
Marmor, M.F.1
Hood, D.C.2
Keating, D.3
-
21
-
-
3442895643
-
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65
-
Lorenz B., Wabbels B., Wegscheider E., et al. Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. Ophthalmology 111 (2004) 1585-1594
-
(2004)
Ophthalmology
, vol.111
, pp. 1585-1594
-
-
Lorenz, B.1
Wabbels, B.2
Wegscheider, E.3
-
22
-
-
0029022639
-
Distribution of fundus autofluorescence with a scanning laser ophthalmoscope
-
von Rückmann A., Fitzke F.W., and Bird A.C. Distribution of fundus autofluorescence with a scanning laser ophthalmoscope. Br J Ophthalmol 79 (1995) 407-412
-
(1995)
Br J Ophthalmol
, vol.79
, pp. 407-412
-
-
von Rückmann, A.1
Fitzke, F.W.2
Bird, A.C.3
-
23
-
-
33750968223
-
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram
-
Renner A.B., Kellner U., Cropp E., et al. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. Ophthalmology 113 (2006) 2066-2073
-
(2006)
Ophthalmology
, vol.113
, pp. 2066-2073
-
-
Renner, A.B.1
Kellner, U.2
Cropp, E.3
-
24
-
-
53149135455
-
Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome
-
Poloschek C.M., Kloeckener-Gruissem B., Hansen L.L., et al. Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Invest Ophthalmol Vis Sci 49 (2008) 4096-4104
-
(2008)
Invest Ophthalmol Vis Sci
, vol.49
, pp. 4096-4104
-
-
Poloschek, C.M.1
Kloeckener-Gruissem, B.2
Hansen, L.L.3
-
25
-
-
0030610180
-
In vivo fundus autofluorescence in macular dystrophies
-
von Rückmann A., Fitzke F.W., and Bird A.C. In vivo fundus autofluorescence in macular dystrophies. Arch Ophthalmol 115 (1997) 609-615
-
(1997)
Arch Ophthalmol
, vol.115
, pp. 609-615
-
-
von Rückmann, A.1
Fitzke, F.W.2
Bird, A.C.3
-
26
-
-
0035092144
-
Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus
-
Lois N., Holder G.E., Bunce C., et al. Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch Ophthalmol 119 (2001) 359-369
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 359-369
-
-
Lois, N.1
Holder, G.E.2
Bunce, C.3
-
27
-
-
3042839168
-
Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus
-
Lois N., Halfyard A.S., Bird A.C., et al. Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus. Am J Ophthalmol 138 (2004) 55-63
-
(2004)
Am J Ophthalmol
, vol.138
, pp. 55-63
-
-
Lois, N.1
Halfyard, A.S.2
Bird, A.C.3
-
28
-
-
0346458733
-
Fundus autofluorescence imaging in Best's vitelliform dystrophy
-
Jarc-Vidmar M., Kraut A., and Hawlina M. Fundus autofluorescence imaging in Best's vitelliform dystrophy. Klin Monatsbl Augenheilkd 220 (2003) 861-867
-
(2003)
Klin Monatsbl Augenheilkd
, vol.220
, pp. 861-867
-
-
Jarc-Vidmar, M.1
Kraut, A.2
Hawlina, M.3
-
29
-
-
0038345865
-
Macular pigment density and distribution: comparison of fundus autofluorescence with minimum motion photometry
-
Robson A.G., Moreland J.D., Pauleikhoff D., et al. Macular pigment density and distribution: comparison of fundus autofluorescence with minimum motion photometry. Vision Res 43 (2003) 1765-1775
-
(2003)
Vision Res
, vol.43
, pp. 1765-1775
-
-
Robson, A.G.1
Moreland, J.D.2
Pauleikhoff, D.3
-
30
-
-
3242891142
-
Fundus autofluorescence in patients with Leber congenital amaurosis
-
Scholl H.P., Chong N.H., Robson A.G., et al. Fundus autofluorescence in patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 45 (2004) 2747-2752
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 2747-2752
-
-
Scholl, H.P.1
Chong, N.H.2
Robson, A.G.3
-
31
-
-
33750991867
-
Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy
-
Wabbels B., Preising M.N., Kretschmann U., et al. Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol 244 (2006) 1453-1466
-
(2006)
Graefes Arch Clin Exp Ophthalmol
, vol.244
, pp. 1453-1466
-
-
Wabbels, B.1
Preising, M.N.2
Kretschmann, U.3
-
33
-
-
0023935889
-
Pathological study in a female carrier of choroideremia
-
Ghosh M., McCulloch C., and Parker J.A. Pathological study in a female carrier of choroideremia. Can J Ophthalmol 23 (1988) 181-186
-
(1988)
Can J Ophthalmol
, vol.23
, pp. 181-186
-
-
Ghosh, M.1
McCulloch, C.2
Parker, J.A.3
-
34
-
-
0030875884
-
Histopathology of the retinal pigment epithelium of a female carrier of choroideremia
-
MacDonald I.M., Chen M.H., Addison D.J., et al. Histopathology of the retinal pigment epithelium of a female carrier of choroideremia. Can J Ophthalmol 32 (1997) 329-333
-
(1997)
Can J Ophthalmol
, vol.32
, pp. 329-333
-
-
MacDonald, I.M.1
Chen, M.H.2
Addison, D.J.3
-
35
-
-
33846596863
-
Phototransduction, dark adaptation, and rhodopsin regeneration. The Proctor lecture
-
Lamb T.D., and Pugh Jr. E.N. Phototransduction, dark adaptation, and rhodopsin regeneration. The Proctor lecture. Invest Ophthalmol Vis Sci 47 (2006) 5138-5152
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 5138-5152
-
-
Lamb, T.D.1
Pugh Jr., E.N.2
-
36
-
-
41149138131
-
Detection of mosaic retinal dysfunction in choroideremia carriers: electroretinographic and psychophysical testing
-
Vajaranant T.S., Fishman G.A., Szlyk J.P., et al. Detection of mosaic retinal dysfunction in choroideremia carriers: electroretinographic and psychophysical testing. Ophthalmology 115 (2008) 723-729
-
(2008)
Ophthalmology
, vol.115
, pp. 723-729
-
-
Vajaranant, T.S.1
Fishman, G.A.2
Szlyk, J.P.3
-
37
-
-
0028639474
-
Retrospective study of hyperabnormal (supranormal) electroretinographic responses in 104 patients
-
Heckenlively J.R., Tanji T., and Logani S. Retrospective study of hyperabnormal (supranormal) electroretinographic responses in 104 patients. Trans Am Ophthalmol Soc 92 (1994) 217-231
-
(1994)
Trans Am Ophthalmol Soc
, vol.92
, pp. 217-231
-
-
Heckenlively, J.R.1
Tanji, T.2
Logani, S.3
-
38
-
-
0344096595
-
The optic nerve head component of the human ERG
-
Sutter E.E., and Bearse Jr. M.A. The optic nerve head component of the human ERG. Vision Res 39 (1999) 419-436
-
(1999)
Vision Res
, vol.39
, pp. 419-436
-
-
Sutter, E.E.1
Bearse Jr., M.A.2
-
39
-
-
0031660505
-
Unusual macular findings in a known choroideremia carrier [letter]
-
Majid M.A., Horsborough B., and Gray R.H. Unusual macular findings in a known choroideremia carrier [letter]. Eye 12 (1998) 740-741
-
(1998)
Eye
, vol.12
, pp. 740-741
-
-
Majid, M.A.1
Horsborough, B.2
Gray, R.H.3
-
40
-
-
0346729843
-
Detection of localized retinal dysfunction in a choroideremia carrier
-
Cheung M.C., Nune G.C., Wang M., et al. Detection of localized retinal dysfunction in a choroideremia carrier. Am J Ophthalmol 137 (2004) 189-191
-
(2004)
Am J Ophthalmol
, vol.137
, pp. 189-191
-
-
Cheung, M.C.1
Nune, G.C.2
Wang, M.3
-
41
-
-
0036188625
-
Detection using the multifocal electroretinogram of mosaic retinal dysfunction in carriers of X-linked retinitis pigmentosa
-
Vajaranant T.S., Seiple W., Szlyk J.P., and Fishman G.A. Detection using the multifocal electroretinogram of mosaic retinal dysfunction in carriers of X-linked retinitis pigmentosa. Ophthalmology 109 (2002) 560-568
-
(2002)
Ophthalmology
, vol.109
, pp. 560-568
-
-
Vajaranant, T.S.1
Seiple, W.2
Szlyk, J.P.3
Fishman, G.A.4
-
43
-
-
0031732871
-
A practical diagnostic test for choroideremia
-
MacDonald I.M., Mah D.Y., Ho Y.K., et al. A practical diagnostic test for choroideremia. Ophthalmology 105 (1998) 1637-1640
-
(1998)
Ophthalmology
, vol.105
, pp. 1637-1640
-
-
MacDonald, I.M.1
Mah, D.Y.2
Ho, Y.K.3
-
44
-
-
0028021299
-
Primate foveal development: a microcosm of current questions in neurobiology
-
Hendrickson A.E. Primate foveal development: a microcosm of current questions in neurobiology. Invest Ophthalmol Vis Sci 35 (1994) 3129-3133
-
(1994)
Invest Ophthalmol Vis Sci
, vol.35
, pp. 3129-3133
-
-
Hendrickson, A.E.1
|