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Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
The diagnostic accuracy of photopic negative responses evoked by broadband and chromatic stimuli in a clinically heterogeneous population.
- Published in:
- Documenta Ophthalmologica, 2023, v. 147, n. 3, p. 165, doi. 10.1007/s10633-023-09956-5
- By:
- Publication type:
- Article
ISCEV guidelines for calibration and verification of stimuli and recording instruments (2023 update).
- Published in:
- Documenta Ophthalmologica, 2023, v. 146, n. 3, p. 199, doi. 10.1007/s10633-023-09932-z
- By:
- Publication type:
- Article
ISCEV Standard for full-field clinical electroretinography (2022 update).
- Published in:
- Documenta Ophthalmologica, 2022, v. 144, n. 3, p. 165, doi. 10.1007/s10633-022-09872-0
- By:
- Publication type:
- Article
ISCEV standard for clinical multifocal electroretinography (mfERG) (2021 update).
- Published in:
- Documenta Ophthalmologica, 2021, v. 142, n. 1, p. 5, doi. 10.1007/s10633-020-09812-w
- By:
- Publication type:
- Article
ISCEV extended protocol for the S-cone ERG.
- Published in:
- Documenta Ophthalmologica, 2020, v. 140, n. 2, p. 95, doi. 10.1007/s10633-019-09730-6
- By:
- Publication type:
- Article
ISCEV extended protocol for the stimulus–response series for the dark-adapted full-field ERG b-wave.
- Published in:
- Documenta Ophthalmologica, 2019, v. 138, n. 3, p. 217, doi. 10.1007/s10633-019-09687-6
- By:
- Publication type:
- Article
ISCEV extended protocol for the stimulus–response series for light-adapted full-field ERG.
- Published in:
- Documenta Ophthalmologica, 2019, v. 138, n. 3, p. 205, doi. 10.1007/s10633-019-09685-8
- By:
- Publication type:
- Article
ISCEV extended protocol for the photopic On-Off ERG.
- Published in:
- Documenta Ophthalmologica, 2018, v. 136, n. 3, p. 199, doi. 10.1007/s10633-018-9645-y
- By:
- Publication type:
- Article
ISCEV extended protocol for the dark-adapted red flash ERG.
- Published in:
- Documenta Ophthalmologica, 2018, v. 136, n. 3, p. 191, doi. 10.1007/s10633-018-9644-z
- By:
- Publication type:
- Article
Correction to: ISCEV Standard for clinical electro-oculography (2017 update).
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
ISCEV guide to visual electrodiagnostic procedures.
- Published in:
- Documenta Ophthalmologica, 2018, v. 136, n. 1, p. 1, doi. 10.1007/s10633-017-9621-y
- By:
- Publication type:
- Article
Electrodiagnostic and two-wavelength fundus autofluorescence imaging investigations in acute idiopathic maculopathy.
- Published in:
- Documenta Ophthalmologica, 2010, v. 121, n. 2, p. 155, doi. 10.1007/s10633-010-9235-0
- By:
- Publication type:
- Article
Electrophysiology as a prognostic indicator of visual recovery in diabetic patients undergoing cataract surgery.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2021, v. 259, n. 7, p. 1879, doi. 10.1007/s00417-021-05100-8
- By:
- Publication type:
- Article
Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
- Published in:
- Acta Ophthalmologica (1755375X), 2013, v. 91, n. 3, p. e191, doi. 10.1111/aos.12010
- By:
- Publication type:
- Article
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
- Published in:
- Acta Ophthalmologica (1755375X), 2012, v. 90, n. 3, p. e192, doi. 10.1111/j.1755-3768.2011.02267.x
- By:
- Publication type:
- Article
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Objective assessment of chromatic and achromatic pattern adaptation reveals the temporal response properties of different visual pathways.
- Published in:
- Visual Neuroscience, 2012, v. 29, n. 6, p. 301, doi. 10.1017/S0952523812000351
- By:
- Publication type:
- Article
Measurement of macular pigment optical density and distribution using the steady-state visual evoked potential.
- Published in:
- Visual Neuroscience, 2008, v. 25, n. 4, p. 575, doi. 10.1017/S0952523808080681
- By:
- Publication type:
- Article
Update on the range of visual electrophysiology tests and heir application with clinical examples.
- Published in:
- 2024
- By:
- Publication type:
- Abstract
Macular pigment profile characteristics and stability over periods of up to 25 years.
- Published in:
- 2024
- By:
- Publication type:
- Abstract
Extensive myelinated retinal nerve fibres and bilateral foveal hypoplasia: A specific clinical entity.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Unilateral pigmentary retinopathy: a retrospective case series.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, n. 4, p. e601, doi. 10.1111/aos.13981
- By:
- Publication type:
- Article
Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability ( MCLID) syndrome associated with mutations in KIF11.
- Published in:
- Acta Ophthalmologica (1755375X), 2016, v. 94, n. 1, p. 92, doi. 10.1111/aos.12759
- By:
- Publication type:
- Article
Investigating the potential of Zernike polynomials to characterise spatial distribution of macular pigment.
- Published in:
- PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0217265
- By:
- Publication type:
- Article
A case of recurring acute exudative polymorphous vitelliform maculopathy successfully treated with intravitreal Ozurdex injection.
- Published in:
- European Journal of Ophthalmology, 2024, v. 34, n. 1, p. NP90, doi. 10.1177/11206721231178559
- By:
- Publication type:
- Article
Long-term follow-up of a case of posterior microphthalmos (PRSS56) with hyperautofluorescent retinal pigment epithelial deposits.
- Published in:
- European Journal of Ophthalmology, 2022, v. 32, n. 1, p. NP163, doi. 10.1177/1120672120949756
- By:
- Publication type:
- Article
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 23, p. 4756, doi. 10.1093/hmg/ddt329
- By:
- Publication type:
- Article
Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0032330
- By:
- Publication type:
- Article
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 631, doi. 10.1002/ajmg.c.31822
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- Publication type:
- Article
Inherited Retinal Degeneration: Genetics, Disease Characterization, and Outcome Measures.
- Published in:
- Journal of Ophthalmology, 2017, p. 1, doi. 10.1155/2017/2109014
- By:
- Publication type:
- Article
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
- By:
- Publication type:
- Article
Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants.
- Published in:
- Human Mutation, 2014, v. 35, n. 11, p. 1354, doi. 10.1002/humu.22679
- By:
- Publication type:
- Article
RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy.
- Published in:
- Human Mutation, 2013, v. 34, n. 3, p. 506, doi. 10.1002/humu.22264
- By:
- Publication type:
- Article
Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.
- Published in:
- Clinical Ophthalmology, 2022, v. 16, p. 1569, doi. 10.2147/OPTH.S329282
- By:
- Publication type:
- Article
Electrophysiological and Structural Changes in Chinese Patients with LHON.
- Published in:
- Journal of Ophthalmology, 2020, p. 1, doi. 10.1155/2020/4734276
- By:
- Publication type:
- Article
Comparison of Fundus Autofluorescence and Minimum-Motion Measurements of Macular Pigment Distribution Profiles Derived from Identical Retinal Areas.
- Published in:
- Perception, 2005, v. 34, n. 8, p. 1029, doi. 10.1068/p5196
- By:
- Publication type:
- Article
Outcomes Associated With Sustained-Release Intraocular Fluocinolone Implants in a Case of Melanoma-Associated Retinopathy Treated Without Systemic Immunosuppression.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Retinal Ganglion Cell Dysfunction in Regular Cannabis Users: Is the Evidence Strong Enough to Consider an Association?
- Published in:
- 2017
- By:
- Publication type:
- journal article
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Clinical Heterogeneity in a Family With Mutations in USH2A.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 3, p. 352, doi. 10.1001/jamaophthalmol.2014.5163
- By:
- Publication type:
- Article
Clinical and Molecular Characterization of Enhanced S-Cone Syndrome in Children.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 11, p. 1341, doi. 10.1001/jamaophthalmol.2014.2343
- By:
- Publication type:
- Article
Delineating the expanding phenotype associated with SCAPER gene mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202
- By:
- Publication type:
- Article
large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 8, p. 1263, doi. 10.1093/hmg/ddab316
- By:
- Publication type:
- Article
Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 505, doi. 10.1111/cge.14573
- By:
- Publication type:
- Article
Structural and Functional Characteristics of Color Vision Changes in Choroideremia.
- Published in:
- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.729807
- By:
- Publication type:
- Article