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The ABCs of Stargardt disease: the latest advances in precision medicine.
- Published in:
- Cell & Bioscience, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13578-024-01272-y
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- Article
Targeting miR-181a/b in retinitis pigmentosa: implications for disease progression and therapy.
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- Cell & Bioscience, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13578-024-01243-3
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- Article
A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.
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- 2023
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- Case Study
Venous Tortuosity in COL4A2-Associated Gould Syndrome.
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- Ophthalmic Surgery, Lasers & Imaging Retina, 2023, v. 54, n. 9, p. 536, doi. 10.3928/23258160-20230811-01
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- Article
Primary versus Secondary Elevations in Fundus Autofluorescence.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12327, doi. 10.3390/ijms241512327
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- Article
Spatiotemporal control of genome engineering in cone photoreceptors.
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- Cell & Bioscience, 2023, v. 13, n. 1, p. 1, doi. 10.1186/s13578-023-01033-3
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- Article
Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy.
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- Documenta Ophthalmologica, 2023, v. 146, n. 3, p. 267, doi. 10.1007/s10633-022-09916-5
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- Article
Effects of medications on hypoxia‐inducible factor in the retina: A review.
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- Clinical & Experimental Ophthalmology, 2023, v. 51, n. 3, p. 205, doi. 10.1111/ceo.14161
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- Article
HIF2α activation and mitochondrial deficit due to iron chelation cause retinal atrophy.
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- EMBO Molecular Medicine, 2023, v. 15, n. 2, p. 1, doi. 10.15252/emmm.202216525
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- Article
TRAP1 Is Expressed in Human Retinal Pigment Epithelial Cells and Is Required to Maintain their Energetic Status.
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- Antioxidants, 2023, v. 12, n. 2, p. 381, doi. 10.3390/antiox12020381
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- Article
Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations.
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- Biomedicines, 2023, v. 11, n. 2, p. 385, doi. 10.3390/biomedicines11020385
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- Article
REPORT FROM THE COMMITTEE ON THESES.
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- Transactions of the American Ophthalmological Society, 2023, v. 121, p. 22
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- Article
Congenital Stationary Night Blindness: Clinical and Genetic Features.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14965, doi. 10.3390/ijms232314965
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- Article
RNA-based therapies in inherited retinal diseases.
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- Therapeutic Advances in Ophthalmology, 2022, p. 1, doi. 10.1177/25158414221134602
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- Publication type:
- Article
Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence.
- Published in:
- 2022
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- Publication type:
- Case Study
Foveolar thickness as potential standardized structural outcome measurement in studies of Bietti crystalline dystrophy.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-16563-y
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- Publication type:
- Article
Long-term vitamin A supplementation in a preclinical mouse model for RhoD190N-associated retinitis pigmentosa.
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- Human Molecular Genetics, 2022, v. 31, n. 14, p. 2438, doi. 10.1093/hmg/ddac032
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- Article
Decoding the genesis of the "génie génétique" - Irene Hussels Maumenee.
- Published in:
- 2022
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- Publication type:
- journal article
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13026-2
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- Article
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
- Published in:
- 2022
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- Publication type:
- journal article
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 3, p. 1, doi. 10.1371/journal.pgen.1010129
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- Publication type:
- Article
Late-stage rescue of visually guided behavior in the context of a significantly remodeled retinitis pigmentosa mouse model.
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- Cellular & Molecular Life Sciences, 2022, v. 79, n. 3, p. 1, doi. 10.1007/s00018-022-04161-0
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- Publication type:
- Article
A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.
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- European Journal of Ophthalmology, 2022, v. 32, n. 1, p. NP235, doi. 10.1177/1120672120957599
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- Publication type:
- Article
RNA-based therapies in inherited retinal diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2022, v. 14, p. 1, doi. 10.1177/25158414221134602
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- Publication type:
- Article
Mouse Models of Achromatopsia in Addressing Temporal "Point of No Return" in Gene-Therapy.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 8069, doi. 10.3390/ijms22158069
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- Article
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 14, p. 1293, doi. 10.1093/hmg/ddab122
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- Article
Management and treatment of inherited retinal dystrophies.
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- Taiwan Journal of Ophthalmology, 2021, v. 11, n. 3, p. 205, doi. 10.4103/tjo.tjo_32_21
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- Publication type:
- Article
Nutrigenetic reprogramming of oxidative stress.
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- Taiwan Journal of Ophthalmology, 2021, v. 11, n. 3, p. 207, doi. 10.4103/tjo.tjo_4_21
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- Article
Retinal pigment epithelium lipid metabolic demands and therapeutic restoration.
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- Taiwan Journal of Ophthalmology, 2021, v. 11, n. 3, p. 216, doi. 10.4103/tjo.tjo_31_21
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- Publication type:
- Article
Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons.
- Published in:
- 2021
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- Publication type:
- journal article
Telegenetics for inherited retinal diseases in the COVID-19 environment.
- Published in:
- 2021
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- Publication type:
- Letter
Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
- Published in:
- Molecular Vision, 2021, v. 27, p. 78
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- Publication type:
- Article
Treatment-Emergent Adverse Events in Gene Therapy Trials for Inherited Retinal Diseases: A Narrative Review.
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- Ophthalmology & Therapy, 2020, v. 9, n. 4, p. 709, doi. 10.1007/s40123-020-00287-1
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- Article
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
- Published in:
- 2020
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- Publication type:
- journal article
Presumed Chloroquine Retinopathy With Short-term Therapy for Glioblastoma Multiforme.
- Published in:
- 2020
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- Publication type:
- journal article
Precision metabolome reprogramming for imprecision therapeutics in retinitis pigmentosa.
- Published in:
- 2020
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- Publication type:
- journal article
Quantitative Autofluorescence Following Gene Therapy With Voretigene Neparvovec.
- Published in:
- 2020
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- Publication type:
- journal article
Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1273
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- Publication type:
- Article
Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65763-x
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- Publication type:
- Article
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
- Published in:
- 2020
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- Publication type:
- journal article
Comparative Analysis of Functional and Structural Decline in Retinitis Pigmentosas.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 8, p. 2730, doi. 10.3390/ijms21082730
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- Publication type:
- Article
PKM2 ablation enhanced retinal function and survival in a preclinical model of retinitis pigmentosa.
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- Mammalian Genome, 2020, v. 31, n. 3/4, p. 77, doi. 10.1007/s00335-020-09837-1
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- Publication type:
- Article
Inhibition of Ca<sup>2+</sup> channel surface expression by mutant bestrophin‐1 in RPE cells.
- Published in:
- FASEB Journal, 2020, v. 34, n. 3, p. 4055, doi. 10.1096/fj.201901202RR
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- Publication type:
- Article
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-60137-9
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- Publication type:
- Article
Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.
- Published in:
- Documenta Ophthalmologica, 2020, v. 140, n. 1, p. 67, doi. 10.1007/s10633-019-09719-1
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- Publication type:
- Article
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.
- Published in:
- 2020
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- Publication type:
- journal article
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
- Published in:
- 2019
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- Publication type:
- journal article
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-54892-7
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- Publication type:
- Article
Inside Back Cover, Volume 40, Issue 12.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. ii, doi. 10.1002/humu.23958
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- Publication type:
- Article
CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2377, doi. 10.1002/humu.23894
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- Publication type:
- Article