Found: 17
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Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 168, doi. 10.1093/hmg/dds421
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- Article
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
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- Human Molecular Genetics, 2011, v. 20, n. 7, p. 1411, doi. 10.1093/hmg/ddr022
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- Article
ABCA4 disease progression and a proposed strategy for gene therapy.
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- Human Molecular Genetics, 2009, v. 18, n. 5, p. 931, doi. 10.1093/hmg/ddn421
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- Article
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
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- Human Molecular Genetics, 2008, v. 17, n. 15, p. 2405, doi. 10.1093/hmg/ddn140
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- Article
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1893, doi. 10.1093/hmg/ddh198
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- Article
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.
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- Human Molecular Genetics, 2004, v. 13, n. 5, p. 525, doi. 10.1093/hmg/ddh048
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- Article
881. Safety, Efficacy and Biodistribution of Recombinant AAV2-RPE65 Vector Delivered by Ocular Subretinal Injection.
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- Molecular Therapy, 2006, v. 13, p. S339, doi. 10.1016/j.ymthe.2006.08.970
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- Article
Safety of Recombinant Adeno-Associated Virus Type 2–RPE65 Vector Delivered by Ocular Subretinal Injection.
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- Molecular Therapy, 2006, v. 13, n. 6, p. 1074, doi. 10.1016/j.ymthe.2006.03.005
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- Article
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
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- Human Mutation, 2007, v. 28, n. 11, p. 1074, doi. 10.1002/humu.20565
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- Article
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
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- Human Mutation, 2004, v. 24, n. 5, p. 439, doi. 10.1002/humu.9285
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- Article
Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.
- Published in:
- BMC Ophthalmology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12886-015-0085-0
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- Article
Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast.
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- BMC Ophthalmology, 2015, v. 15, n. 1, p. 98, doi. 10.1186/s12886-015-0085-0
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- Publication type:
- Article
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
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- Human Molecular Genetics, 2019, v. 28, n. 1, p. 175, doi. 10.1093/hmg/ddy342
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- Article
Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.
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- Human Molecular Genetics, 2016, v. 25, n. 24, p. 5444, doi. 10.1093/hmg/ddw361
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- Article
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
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- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3220, doi. 10.1093/hmg/ddv073
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- Article
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
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- Human Molecular Genetics, 2003, v. 12, n. 9, p. 1073, doi. 10.1093/hmg/ddg117
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- Article
Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0125700
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- Article