-
1
-
-
1142309835
-
Recent advances in early-onset severe retinal degeneration: more than just basic research
-
Preising M.N., and Heegard S. Recent advances in early-onset severe retinal degeneration: more than just basic research. Trends Mol Med 10 (2004) 51-54
-
(2004)
Trends Mol Med
, vol.10
, pp. 51-54
-
-
Preising, M.N.1
Heegard, S.2
-
2
-
-
33748664605
-
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis
-
den Hollander A.I., Koenekoop R.K., Yzer S., et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet 79 (2006) 556-561
-
(2006)
Am J Hum Genet
, vol.79
, pp. 556-561
-
-
den Hollander, A.I.1
Koenekoop, R.K.2
Yzer, S.3
-
3
-
-
28444442243
-
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness
-
Acland G.M., Aguirre G.D., Bennett J., et al. Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness. Mol Ther 12 (2005) 1072-1082
-
(2005)
Mol Ther
, vol.12
, pp. 1072-1082
-
-
Acland, G.M.1
Aguirre, G.D.2
Bennett, J.3
-
4
-
-
28444452653
-
Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis
-
Available at: http://medicine.plosjournals.org/perlserv/?request=get-document&doi= 10.1371/journal.pmed.0020333. Accessed October 9, 2006.
-
Batten M.L., Imanishi Y., Tu D.C., et al. Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis. Plos Med 2 (2005) e333. http://medicine.plosjournals.org/perlserv/?request=get-document&;doi=10. 1371/journal.pmed.0020333 Available at: http://medicine.plosjournals.org/perlserv/?request=get-document&doi= 10.1371/journal.pmed.0020333. Accessed October 9, 2006.
-
(2005)
Plos Med
, vol.2
-
-
Batten, M.L.1
Imanishi, Y.2
Tu, D.C.3
-
5
-
-
27244446791
-
Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP
-
Pawlyk B.S., Smith A.J., Buch P.K., et al. Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. Invest Ophthalmol Vis Sci 46 (2005) 3039-3045
-
(2005)
Invest Ophthalmol Vis Sci
, vol.46
, pp. 3039-3045
-
-
Pawlyk, B.S.1
Smith, A.J.2
Buch, P.K.3
-
6
-
-
33745608443
-
Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness
-
Available at: http://medicine.plosjournals.org/perlserv/?request=get-document&doi= 10.1371/journal.pmed.0030201. Accessed October 9, 2006.
-
Williams M.L., Coleman J.E., Haire S.E., et al. Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness. Plos Med 3 (2006) e201. http://medicine.plosjournals.org/perlserv/?request=get-document&;doi=10. 1371/journal.pmed.0030201 Available at: http://medicine.plosjournals.org/perlserv/?request=get-document&doi= 10.1371/journal.pmed.0030201. Accessed October 9, 2006.
-
(2006)
Plos Med
, vol.3
-
-
Williams, M.L.1
Coleman, J.E.2
Haire, S.E.3
-
7
-
-
0038364012
-
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
-
Jacobson S.G., Cideciyan A.V., Aleman T.S., et al. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet 12 (2003) 1073-1078
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1073-1078
-
-
Jacobson, S.G.1
Cideciyan, A.V.2
Aleman, T.S.3
-
8
-
-
20944447776
-
Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success
-
Jacobson S.G., Aleman T.S., Cideciyan A.V., et al. Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success. Proc Natl Acad Sci U S A 102 (2005) 6177-6182
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 6177-6182
-
-
Jacobson, S.G.1
Aleman, T.S.2
Cideciyan, A.V.3
-
9
-
-
29044431871
-
RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review
-
Koenekoop R.K. RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review. Ophthalmic Genet 26 (2005) 175-179
-
(2005)
Ophthalmic Genet
, vol.26
, pp. 175-179
-
-
Koenekoop, R.K.1
-
10
-
-
0035004268
-
Null RPGRIP1 alleles in patients with Leber congenital amaurosis
-
Dryja T.P., Adams S.M., Grimsby J.L., et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet 68 (2001) 1295-1298
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1295-1298
-
-
Dryja, T.P.1
Adams, S.M.2
Grimsby, J.L.3
-
11
-
-
17944371280
-
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
-
Gerber S., Perrault I., Hanein S., et al. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet 9 (2001) 561-571
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 561-571
-
-
Gerber, S.1
Perrault, I.2
Hanein, S.3
-
13
-
-
26844436412
-
Evaluation of genotype-phenotype associations in Leber congenital amaurosis
-
Galvin J.A., Fishman G.A., Stone E.M., and Koenekoop R.K. Evaluation of genotype-phenotype associations in Leber congenital amaurosis. Retina 25 (2005) 919-929
-
(2005)
Retina
, vol.25
, pp. 919-929
-
-
Galvin, J.A.1
Fishman, G.A.2
Stone, E.M.3
Koenekoop, R.K.4
-
14
-
-
0034127482
-
Mutation analysis of 3 genes in patients with Leber congenital amaurosis
-
Lotery A.J., Namperumalsamy P., Jacobson S.G., et al. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol 118 (2000) 538-543
-
(2000)
Arch Ophthalmol
, vol.118
, pp. 538-543
-
-
Lotery, A.J.1
Namperumalsamy, P.2
Jacobson, S.G.3
-
15
-
-
0035090259
-
Mutations in the CRB1 gene cause Leber congenital amaurosis
-
Lotery A.J., Jacobson S.G., Fishman G.A., et al. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol 119 (2001) 415-420
-
(2001)
Arch Ophthalmol
, vol.119
, pp. 415-420
-
-
Lotery, A.J.1
Jacobson, S.G.2
Fishman, G.A.3
-
16
-
-
0031732523
-
Relation of optical coherence tomography to microanatomy in normal and rd chickens
-
Huang Y., Cideciyan A.V., Papastergiou G.I., et al. Relation of optical coherence tomography to microanatomy in normal and rd chickens. Invest Ophthalmol Vis Sci 39 (1998) 2405-2416
-
(1998)
Invest Ophthalmol Vis Sci
, vol.39
, pp. 2405-2416
-
-
Huang, Y.1
Cideciyan, A.V.2
Papastergiou, G.I.3
-
17
-
-
19944430129
-
Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures
-
Roman A.J., Schwartz S.B., Aleman T.S., et al. Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures. Exp Eye Res 80 (2005) 259-272
-
(2005)
Exp Eye Res
, vol.80
, pp. 259-272
-
-
Roman, A.J.1
Schwartz, S.B.2
Aleman, T.S.3
-
18
-
-
3042651223
-
An overview of Leber congenital amaurosis: a model to understand human retinal development
-
Koenekoop R.K. An overview of Leber congenital amaurosis: a model to understand human retinal development. Surv Ophthalmol 49 (2004) 379-398
-
(2004)
Surv Ophthalmol
, vol.49
, pp. 379-398
-
-
Koenekoop, R.K.1
-
19
-
-
33745623848
-
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
-
Available at: http://jmg.bmjjournals.com/cgi/content/abstract/42/11/e67. Accessed October 9, 2006.
-
Booij J.C., Florijn R.J., ten Brink J.B., et al. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. J Med Genet 42 (2005) e67. http://jmg.bmjjournals.com/cgi/content/abstract/42/11/e67 Available at: http://jmg.bmjjournals.com/cgi/content/abstract/42/11/e67. Accessed October 9, 2006.
-
(2005)
J Med Genet
, vol.42
-
-
Booij, J.C.1
Florijn, R.J.2
ten Brink, J.B.3
-
20
-
-
0032052472
-
Histopathology of the human retina in retinitis pigmentosa
-
Milam A.H., Li Z.Y., and Fariss R.N. Histopathology of the human retina in retinitis pigmentosa. Prog Retin Eye Res 17 (1998) 175-205
-
(1998)
Prog Retin Eye Res
, vol.17
, pp. 175-205
-
-
Milam, A.H.1
Li, Z.Y.2
Fariss, R.N.3
-
21
-
-
23144432156
-
Retinal remodeling during retinal degeneration
-
Jones B.W., and Marc R.E. Retinal remodeling during retinal degeneration. Exp Eye Res 81 (2005) 123-137
-
(2005)
Exp Eye Res
, vol.81
, pp. 123-137
-
-
Jones, B.W.1
Marc, R.E.2
-
22
-
-
18244410390
-
The genomic response to retinal disease and injury: evidence for endothelin signaling from photoreceptors to glia
-
Rattner A., and Nathans J. The genomic response to retinal disease and injury: evidence for endothelin signaling from photoreceptors to glia. J Neurosci 25 (2005) 4540-4549
-
(2005)
J Neurosci
, vol.25
, pp. 4540-4549
-
-
Rattner, A.1
Nathans, J.2
-
24
-
-
0030220138
-
Glia cells of the monkey retina-II. Muller cells
-
Distler C., and Dreher Z. Glia cells of the monkey retina-II. Muller cells. Vision Res 36 (1996) 2381-2394
-
(1996)
Vision Res
, vol.36
, pp. 2381-2394
-
-
Distler, C.1
Dreher, Z.2
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