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Subretinal delivery of immunoglobulin G with gold nanoparticles in the rabbit eye.
- Published in:
- Japanese Journal of Ophthalmology, 2009, v. 53, n. 3, p. 249
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- Publication type:
- Article
The 'dark' side of sedation: 12 years of office-based pediatric deep sedation for electroretinography in the dark.
- Published in:
- Pediatric Anesthesia, 2011, v. 21, n. 1, p. 65, doi. 10.1111/j.1460-9592.2010.03462.x
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- Publication type:
- Article
Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13361, doi. 10.3390/ijms232113361
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- Publication type:
- Article
Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 447, doi. 10.3390/genes14020447
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- Publication type:
- Article
Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.
- Published in:
- Pharmaceutical Research, 2019, v. 36, n. 2, p. 1, doi. 10.1007/s11095-018-2564-5
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- Publication type:
- Article
Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations.
- Published in:
- Molecular Vision, 2021, v. 27, p. 95
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- Publication type:
- Article
Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
- Published in:
- Molecular Vision, 2020, v. 26, p. 423
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- Publication type:
- Article
Two-Color Dark-Adapted Perimetry Implemented With a Commercially Available Perimeter to Characterize Rod-Pathway Sensitivity.
- Published in:
- Ophthalmic Surgery, Lasers & Imaging Retina, 2022, v. 53, n. 12, p. 692, doi. 10.3928/23258160-20221118-03
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- Publication type:
- Article
Multimodal Imaging in Wagner Syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Gene Therapy Trial Update: A Primer for Vitreoretinal Specialists.
- Published in:
- 2016
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- Publication type:
- journal article
Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.647400
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- Publication type:
- Article
Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.
- Published in:
- Saudi Journal of Ophthalmology, 2023, v. 37, n. 4, p. 276, doi. 10.4103/sjopt.sjopt_168_23
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- Publication type:
- Article
Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials.
- Published in:
- Saudi Journal of Ophthalmology, 2023, v. 37, n. 4, p. 287, doi. 10.4103/sjopt.sjopt_175_23
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- Publication type:
- Article
The new landscape of retinal gene therapy.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 846, doi. 10.1002/ajmg.c.31842
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- Publication type:
- Article
Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning.
- Published in:
- Journal of Biophotonics, 2018, v. 11, n. 5, p. 1, doi. 10.1002/jbio.201700313
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- Publication type:
- Article
The effects of PEGylation on LNP based mRNA delivery to the eye.
- Published in:
- PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0241006
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- Publication type:
- Article
GCAP1 rescues rod photoreceptor response in GCAP1/GCAP2 knockout mice.
- Published in:
- EMBO Journal, 2002, v. 21, n. 7, p. 1545, doi. 10.1093/emboj/21.7.1545
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- Publication type:
- Article
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.
- Published in:
- 2019
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- Publication type:
- journal article
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 746, doi. 10.1002/jimd.12738
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- Publication type:
- Article
Ophthalmic findings in an infant with phosphomannomutase deficiency.
- Published in:
- Documenta Ophthalmologica, 2014, v. 128, n. 2, p. 149, doi. 10.1007/s10633-014-9427-0
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- Publication type:
- Article
Intraoperative optical coherence tomographic findings in patients undergoing subretinal gene therapy surgery.
- Published in:
- International Journal of Retina & Vitreous, 2020, v. 6, n. 1, p. 1, doi. 10.1186/s40942-020-00216-1
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- Publication type:
- Article
Strategies for Treating Inherited Retinal Degeneration With Large Genes That Are Not Amenable to Adeno-Associated Virus-Based Gene Replacement Therapy.
- Published in:
- 2021
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- Publication type:
- journal article
When the Disease Does Not Follow the Textbook.
- Published in:
- 2020
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- Publication type:
- journal article
Disease Course in Patients With Pentosan Polysulfate Sodium-Associated Maculopathy After Drug Cessation.
- Published in:
- 2020
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- Publication type:
- journal article
Phenotypic Spectrum of Pentosan Polysulfate Sodium-Associated Maculopathy: A Multicenter Study.
- Published in:
- 2019
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- Publication type:
- journal article
Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial.
- Published in:
- 2018
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- Publication type:
- journal article
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
- Published in:
- 2017
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- Publication type:
- journal article
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Optical Coherence Tomography Angiography in Choroideremia: Correlating Choriocapillaris Loss With Overlying Degeneration.
- Published in:
- 2016
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- Publication type:
- journal article
Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 6, p. 653, doi. 10.1001/jamaophthalmol.2015.0357
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- Publication type:
- Article
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
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- 2014
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- Publication type:
- journal article
Retinal Morphology of Patients With Achromatopsia During Early Childhood.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 7, p. 823, doi. 10.1001/jamaophthalmol.2014.685
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- Publication type:
- Article
A little algae a day keeps the retinal degeneration specialist away?
- Published in:
- 2013
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- Publication type:
- Journal Article
A Little Algae a Day Keeps the Retinal Degeneration Specialist Away?
- Published in:
- JAMA Ophthalmology, 2013, v. 131, n. 8, p. 983, doi. 10.1001/jamaophthalmol.2013.4468
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- Publication type:
- Article
Interval Spectral-Domain Optical Coherence Tomography and Electrophysiology Findings in Neonatal Adrenoleukodystrophy.
- Published in:
- JAMA Ophthalmology, 2013, v. 131, n. 6, p. 807, doi. 10.1001/jamaophthalmol.2013.2089
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- Publication type:
- Article
Spectral-Domain Optical Coherence Tomography and Fundus Autofluorescence Evaluation of Torpedo Maculopathy.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2015, v. 52, p. e8, doi. 10.3928/01913913-20150303-01
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- Publication type:
- Article
BETA2/NeuroD1 Null Mice: A New Model for Transcription Factor-Dependent Photoreceptor Degeneration.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 2, p. 453, doi. 10.1523/JNEUROSCI.23-02-00453.2003
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- Publication type:
- Article
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study.
- Published in:
- Human Mutation, 2022, v. 43, n. 5, p. 613, doi. 10.1002/humu.24365
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- Publication type:
- Article
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 11, p. 945, doi. 10.1093/hmg/ddae028
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- Publication type:
- Article
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2005, doi. 10.1093/hmg/ddad032
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- Publication type:
- Article
A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05268-1
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- Publication type:
- Article
Gene Therapy for Posterior Segment Disease.
- Published in:
- Focal Points, 2019, v. 37, n. 4, p. 1
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- Publication type:
- Article
Retinal Neuroprotective Effects of Flibanserin, an FDA-Approved Dual Serotonin Receptor Agonist-Antagonist.
- Published in:
- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0159776
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- Publication type:
- Article