Found: 61
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Quantitative Fundus Autofluorescence in Early and Intermediate Age-Related Macular Degeneration.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model.
- Published in:
- Human Genetics, 2011, v. 130, n. 5, p. 645, doi. 10.1007/s00439-011-0999-4
- By:
- Publication type:
- Article
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
- Published in:
- Human Genetics, 2007, v. 121, n. 2, p. 203, doi. 10.1007/s00439-006-0304-0
- By:
- Publication type:
- Article
The retinal phenotype in primary hyperoxaluria type 2 and 3.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 5, p. 1485, doi. 10.1007/s00467-022-05765-1
- By:
- Publication type:
- Article
Pseudoxanthoma Elasticum – Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0162337
- By:
- Publication type:
- Article
Retinal Injury Following Laser Pointer Exposure: A Systematic Review and Case Series.
- Published in:
- Deutsches Ärzteblatt International, 2017, v. 114, n. 49, p. 831, doi. 10.3238/arztebl.2017.083
- By:
- Publication type:
- Article
Analysis of glutathione S-transferase Pi isoform (GSTP1) single-nucleotide polymorphisms and macular telangiectasia type 2.
- Published in:
- International Ophthalmology, 2010, v. 30, n. 6, p. 645, doi. 10.1007/s10792-010-9374-z
- By:
- Publication type:
- Article
Aflibercept for choroidal neovascularizations secondary to pseudoxanthoma elasticum: a prospective study.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2020, v. 258, n. 2, p. 311, doi. 10.1007/s00417-019-04551-4
- By:
- Publication type:
- Article
The significance of the complement system for the pathogenesis of age-related macular degeneration - current evidence and translation into clinical application.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2011, v. 249, n. 2, p. 163, doi. 10.1007/s00417-010-1568-6
- By:
- Publication type:
- Article
Hydroxychloroquine-induced Retinal Toxicity.
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1196783
- By:
- Publication type:
- Article
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
- Published in:
- Human Mutation, 2021, v. 42, n. 9, p. 1139, doi. 10.1002/humu.24242
- By:
- Publication type:
- Article
Choriocapillaris Flow Signal Impairment in Sorsby Fundus Dystrophy.
- Published in:
- Ophthalmologica, 2022, v. 245, n. 3, p. 265, doi. 10.1159/000520931
- By:
- Publication type:
- Article
Stereoscopic Vision in Macular Telangiectasia Type 2.
- Published in:
- Ophthalmologica, 2019, v. 241, n. 3, p. 121, doi. 10.1159/000492134
- By:
- Publication type:
- Article
Clinical evaluation of simultaneous confocal scanning laser ophthalmoscopy imaging combined with high-resolution, spectral-domain optical coherence tomography.
- Published in:
- Acta Ophthalmologica (1755375X), 2010, v. 88, n. 8, p. 842, doi. 10.1111/j.1755-3768.2009.01602.x
- By:
- Publication type:
- Article
A new diagnostic approach in patients with type 2 macular telangiectasia: confocal reflectance imaging.
- Published in:
- 2008
- By:
- Publication type:
- Letter
The Role of the Complement System in Age-Related Macular Degeneration.
- Published in:
- 2014
- By:
- Publication type:
- Letter to the Editor
The Role of the Complement System in Age-Related Macular Degeneration.
- Published in:
- Deutsches Ärzteblatt International, 2014, v. 111, n. 8, p. 133, doi. 10.3238/arztebl.2014.0133
- By:
- Publication type:
- Article
Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 5, p. 531, doi. 10.1002/mgg3.312
- By:
- Publication type:
- Article
Morphologic outer retinal abnormalities in white dot syndromes on spectral-domain optical coherence tomography.
- Published in:
- Clinical & Experimental Ophthalmology, 2012, v. 40, n. 5, p. 528, doi. 10.1111/j.1442-9071.2011.02733.x
- By:
- Publication type:
- Article
Non-viral retinal gene therapy: a review.
- Published in:
- Clinical & Experimental Ophthalmology, 2012, v. 40, n. 1, p. 39, doi. 10.1111/j.1442-9071.2011.02649.x
- By:
- Publication type:
- Article
Subclinical Angioid Streaks with Pseudodrusen: A New Phenotype of Age-Related Macular Degeneration.
- Published in:
- Ophthalmology & Therapy, 2023, v. 12, n. 5, p. 2729, doi. 10.1007/s40123-023-00778-x
- By:
- Publication type:
- Article
GUCY2D -Related Retinal Dystrophy with Autosomal Dominant Inheritance—A Multicenter Case Series and Review of Reported Data.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 313, doi. 10.3390/genes13020313
- By:
- Publication type:
- Article
No Evidence to Support the Use of Plasmapheresis for Age-Related Macular Degeneration.
- Published in:
- Therapeutic Apheresis & Dialysis, 2010, v. 14, n. 6, p. 607, doi. 10.1111/j.1744-9987.2010.00879.x
- By:
- Publication type:
- Article
Centrifugal progression of retinal lesions in the early evolution of multiple evanescent white dot syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Abstract
Reply to: In response to: Topographic patterns of retinal lesions in multiple evanescent white dot syndrome.
- Published in:
- 2024
- By:
- Publication type:
- Letter to the Editor
Topographic patterns of retinal lesions in multiple evanescent white dot syndrome.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 8, p. 2257, doi. 10.1007/s00417-023-06032-1
- By:
- Publication type:
- Article
Complement factor H binds malondialdehyde epitopes and protects from oxidative stress.
- Published in:
- Nature, 2011, v. 478, n. 7367, p. 76, doi. 10.1038/nature10449
- By:
- Publication type:
- Article
Progression characteristics of ellipsoid zone loss in macular telangiectasia type 2.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, n. 7, p. e998, doi. 10.1111/aos.14110
- By:
- Publication type:
- Article
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.
- Published in:
- Clinical & Experimental Ophthalmology, 2019, v. 47, n. 6, p. 779, doi. 10.1111/ceo.13516
- By:
- Publication type:
- Article
Retinal imaging including optical coherence tomography angiography for detecting active choroidal neovascularization in pseudoxanthoma elasticum.
- Published in:
- Clinical & Experimental Ophthalmology, 2019, v. 47, n. 2, p. 240, doi. 10.1111/ceo.13385
- By:
- Publication type:
- Article
Spontaneous resolution of retinal vascular abnormalities and macular oedema in facioscapulohumeral muscular dystrophy.
- Published in:
- Clinical & Experimental Ophthalmology, 2016, v. 44, n. 7, p. 627, doi. 10.1111/ceo.12735
- By:
- Publication type:
- Article
Fundus autofluorescence imaging using red excitation light.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-36217-x
- By:
- Publication type:
- Article
Genetic control of the alternative pathway of complement in humans and age-related macular degeneration.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 1, p. 209, doi. 10.1093/hmg/ddp472
- By:
- Publication type:
- Article
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078496
- By:
- Publication type:
- Article
Assessment of Tropism and Effectiveness of New Primate-Derived Hybrid Recombinant AAV Serotypes in the Mouse and Primate Retina.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060361
- By:
- Publication type:
- Article
Structure-Function Correlation of the Human Central Retina.
- Published in:
- PLoS ONE, 2010, v. 5, n. 9, p. 1, doi. 10.1371/journal.pone.0012864
- By:
- Publication type:
- Article
Systemic Complement Activation in Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2008, v. 3, n. 7, p. 1, doi. 10.1371/journal.pone.0002593
- By:
- Publication type:
- Article
An Anatomical Variant That May Save Vision--Widespread Cilioretinal Perfusion in Central Retinal Artery Occlusion.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 571, doi. 10.1002/humu.20478
- By:
- Publication type:
- Article
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net.
- Published in:
- Ophthalmic Research, 2023, v. 66, n. 1, p. 550, doi. 10.1159/000528716
- By:
- Publication type:
- Article
Structural Abnormalities of the Central Retina in Neurofibromatosis Type 2.
- Published in:
- Ophthalmic Research, 2022, v. 65, n. 1, p. 77, doi. 10.1159/000519143
- By:
- Publication type:
- Article
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).
- Published in:
- Ophthalmic Research, 2020, v. 63, n. 3, p. 234, doi. 10.1159/000505001
- By:
- Publication type:
- Article
The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1).
- Published in:
- Ophthalmic Research, 2018, v. 60, n. 3, p. 185, doi. 10.1159/000491791
- By:
- Publication type:
- Article
Increased vascular occlusion in patients with pseudoxanthoma elasticum.
- Published in:
- VASA. Zeitschrift für Gefässkrankheiten, 2017, v. 46, n. 1, p. 47, doi. 10.1024/0301-1526/a000583
- By:
- Publication type:
- Article
Examination of the eye and retinal alterations in primary hyperoxaluria type 1.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 2, p. 255, doi. 10.1093/ndt/gfaa101
- By:
- Publication type:
- Article
Morphological and functional parameters in X-linked retinoschisis patients-A multicentre retrospective cohort study.
- Published in:
- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2023.1331889
- By:
- Publication type:
- Article
Morphological and functional parameters in X-linked retinoschisis patients-A multicentre retrospective cohort study.
- Published in:
- Frontiers in Medicine, 2024, p. 1, doi. 10.3389/fmed.2023.1331889
- By:
- Publication type:
- Article
Long-Term Stability of Benign Lobular Inner Nuclear Layer Proliferations.
- Published in:
- JAMA Ophthalmology, 2024, v. 142, n. 6, p. e236065, doi. 10.1001/jamaophthalmol.2023.6065
- By:
- Publication type:
- Article
Optical Coherence Tomography Feature of Retinoschisis in CRB1-Associated Maculopathy.
- Published in:
- JAMA Ophthalmology, 2024, v. 142, n. 2, p. 158, doi. 10.1001/jamaophthalmol.2023.5886
- By:
- Publication type:
- Article
Genetic Counseling For Predictive Retinal Imaging.
- Published in:
- 2024
- By:
- Publication type:
- Opinion