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A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1413, doi. 10.3390/genes14071413
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- Article
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
- Published in:
- Human Mutation, 2022, v. 43, n. 7, p. 832, doi. 10.1002/humu.24371
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- Publication type:
- Article
Full-Field Electroretinography Changes Associated with Age-Related Macular Degeneration: A Systematic Review with Meta-Analyses.
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- Ophthalmologica, 2022, v. 245, n. 3, p. 195, doi. 10.1159/000521834
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- Publication type:
- Article
A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes.
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- Molecular Vision, 2022, v. 28, p. 300
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- Publication type:
- Article
Full‐field electroretinography in age‐related macular degeneration: an overall retinal response.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 2, p. e253, doi. 10.1111/aos.14571
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- Article
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
- Published in:
- 2020
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- Publication type:
- journal article
Full‐field Electroretinography in Age‐related Macular Degeneration: can retinal electrophysiology predict the subjective visual outcome of cataract surgery?
- Published in:
- Acta Ophthalmologica (1755375X), 2020, v. 98, n. 7, p. 693, doi. 10.1111/aos.14430
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- Publication type:
- Article
Long-term effects of hyperbaric oxygen therapy on visual acuity and retinopathy.
- Published in:
- Undersea & Hyperbaric Medicine, 2020, v. 47, n. 3, p. 423, doi. 10.22462/03.07.2020.3
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- Publication type:
- Article
Cerebral Functional Magnetic Resonance Imaging and Multifocal Visual Evoked Potentials in a Patient with Unexplained Impairment of Visual Function: A Case Report.
- Published in:
- 2018
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- Publication type:
- Case Study
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
- Published in:
- Genes, 2017, v. 8, n. 12, p. 381, doi. 10.3390/genes8120381
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- Publication type:
- Article
Reduction of Rod and Cone Function in 6.5-Year-Old Children Born Extremely Preterm.
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- 2017
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- Publication type:
- journal article
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 3, p. e250, doi. 10.1111/aos.13293
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- Publication type:
- Article
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function.
- Published in:
- 2016
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- Publication type:
- journal article
Macular function in preterm children at school age.
- Published in:
- Documenta Ophthalmologica, 2016, v. 133, n. 3, p. 151, doi. 10.1007/s10633-016-9564-8
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- Publication type:
- Article
Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
A cross-linked hyaluronic acid hydrogel (Healaflow) as a novel vitreous substitute.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 4, p. 697, doi. 10.1007/s00417-015-3256-z
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- Publication type:
- Article
Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 2, p. 215, doi. 10.1007/s00417-015-3025-z
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- Publication type:
- Article
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0145951
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- Publication type:
- Article
Macular function measured by binocular mfERG and compared with macular structure in healthy children.
- Published in:
- Documenta Ophthalmologica, 2015, v. 131, n. 3, p. 169, doi. 10.1007/s10633-015-9513-y
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- Publication type:
- Article
Cone implicit time as a predictor of visual outcome in macular hole surgery.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2014, v. 252, n. 12, p. 1903, doi. 10.1007/s00417-014-2628-0
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- Publication type:
- Article
Attenuation of the retinal nerve fibre layer and reduced retinal function assessed by optical coherence tomography and full-field electroretinography in patients exposed to vigabatrin medication.
- Published in:
- Acta Ophthalmologica (1755375X), 2014, v. 92, n. 2, p. 149, doi. 10.1111/aos.12030
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- Publication type:
- Article
Alteration of Vitreal Retinoschisin Level in Human Primary Retinal Detachment.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 3, p. 353, doi. 10.1001/jamaophthalmol.2013.6306
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- Publication type:
- Article
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 150, doi. 10.1002/humu.22467
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- Publication type:
- Article
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1537, doi. 10.1002/humu.22398
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- Publication type:
- Article
Macular dysfunction in drusen maculopathy assessed with multifocal electroretinogram and optical coherence tomography.
- Published in:
- Clinical Ophthalmology, 2013, v. 7, p. 1303, doi. 10.2147/OPTH.S39258
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- Publication type:
- Article
Transcutaneous oximetry but not arterial toe blood pressure or ankle-brachial index is related to macular thickness in patients with chronic diabetic foot ulcers.
- Published in:
- Journal of Experimental & Integrative Medicine, 2013, v. 3, n. 2, p. 81, doi. 10.5455/jeim.070113.or.056
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- Publication type:
- Article
Vitreous levels of oxidative stress biomarkers and the radical-scavenger α-microglobulin/A1M in human rhegmatogenous retinal detachment.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2013, v. 251, n. 3, p. 725, doi. 10.1007/s00417-012-2113-6
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- Publication type:
- Article
Clinical and electrophysiologic outcome in patients with neovascular glaucoma treated with and without bevacizumab.
- Published in:
- European Journal of Ophthalmology, 2012, v. 22, n. 4, p. 563, doi. 10.5301/ejo.5000089
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- Publication type:
- Article
Electrophysiological Evaluation of Retinal Function in Children Receiving Vigabatrin Medication.
- Published in:
- Journal of Pediatric Ophthalmology & Strabismus, 2011, v. 48, n. 6, p. 357, doi. 10.3928/01913913-20110118-01
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- Publication type:
- Article
Experimental vitreous tamponade using polyalkylimide hydrogel.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2011, v. 249, n. 8, p. 1167, doi. 10.1007/s00417-011-1652-6
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- Publication type:
- Article
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 4, p. 719, doi. 10.1093/hmg/ddq517
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- Publication type:
- Article
Alteration of rod and cone function in children with Usher syndrome.
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- European Journal of Ophthalmology, 2011, v. 21, n. 1, p. 30, doi. 10.5301/EJO.2010.5433
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- Publication type:
- Article
Multifocal electroretinogram for functional evaluation of retinal injury following ischemia–reperfusion in pigs.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2010, v. 248, n. 5, p. 627, doi. 10.1007/s00417-009-1237-9
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- Publication type:
- Article
Improved retinal function after trabeculectomy in glaucoma patients.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2010, v. 248, n. 4, p. 485, doi. 10.1007/s00417-009-1220-5
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- Publication type:
- Article
Electrophysiological evaluation and visual outcome in patients with central retinal vein occlusion, primary open-angle glaucoma and neovascular glaucoma.
- Published in:
- Acta Ophthalmologica (1755375X), 2010, v. 88, n. 1, p. 86, doi. 10.1111/j.1755-3768.2008.01424.x
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- Publication type:
- Article
Dose-related changes in retinal function and PKC-alpha expression in rabbits on vigabatrin medication.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2009, v. 247, n. 8, p. 1057, doi. 10.1007/s00417-009-1093-7
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- Publication type:
- Article
Full-field ERG and visual fields in patients 5 years after discontinuing vigabatrin therapy.
- Published in:
- Documenta Ophthalmologica, 2008, v. 117, n. 2, p. 93
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- Publication type:
- Article
CNGB3 mutations account for 50%of all cases with autosomal recessive achromatopsia.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 302, doi. 10.1038/sj.ejhg.5201269
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- Publication type:
- Article
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 324, doi. 10.1038/81627
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- Publication type:
- Article
Genomic Organization of Human DLG4, the Gene Encoding Postsynaptic Density 95.
- Published in:
- Journal of Neurochemistry, 1999, v. 73, n. 6, p. 2250, doi. 10.1046/j.1471-4159.1999.0732250.x
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- Publication type:
- Article
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 423, doi. 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D
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- Publication type:
- Article
Identification of the gene responsible for Best macular dystrophy.
- Published in:
- Nature Genetics, 1998, v. 19, n. 3, p. 241, doi. 10.1038/915
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- Publication type:
- Article
Full-field electroretinograms in patients with central areolar choroidal dystrophy.
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- Acta Ophthalmologica (1755375X), 1994, v. 72, n. 5, p. 537, doi. 10.1111/j.1755-3768.1994.tb07176.x
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- Publication type:
- Article
Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1047
- By:
- Publication type:
- Article
Full-field electroretinogram in a patient with cutaneous melanoma-associated retinopathy.
- Published in:
- Acta Ophthalmologica (1755375X), 1993, v. 71, n. 4, p. 487, doi. 10.1111/j.1755-3768.1993.tb04623.x
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- Publication type:
- Article
Full-field electroretinograms during general anesthesia in normal children compared to examination with topical anesthesia.
- Published in:
- Acta Ophthalmologica (1755375X), 1993, v. 71, n. 4, p. 491, doi. 10.1111/j.1755-3768.1993.tb04624.x
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- Publication type:
- Article
Serum transferrin in patients with retinitis pigmentosa.
- Published in:
- Acta Ophthalmologica (1755375X), 1992, v. 70, n. 4, p. 525, doi. 10.1111/j.1755-3768.1992.tb02125.x
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- Publication type:
- Article
Electroretinograms in patients with achromatopsia.
- Published in:
- Acta Ophthalmologica (1755375X), 1991, v. 69, n. 6, p. 711, doi. 10.1111/j.1755-3768.1991.tb02048.x
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- Publication type:
- Article
Electroretinographic studies of families with dominant retinitis pigmentosa.
- Published in:
- Acta Ophthalmologica (1755375X), 1991, v. 69, n. 2, p. 162, doi. 10.1111/j.1755-3768.1991.tb02706.x
- By:
- Publication type:
- Article
Electroretinographic diagnosis in families with X-linked retinitis pigmentosa.
- Published in:
- Acta Ophthalmologica (1755375X), 1990, v. 68, n. 2, p. 139, doi. 10.1111/j.1755-3768.1990.tb01894.x
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- Publication type:
- Article