Found: 42
Select item for more details and to access through your institution.
ATP8A2‐Related Disorder: Beyond Cerebellar Ataxia.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 8, p. 1215, doi. 10.1002/mdc3.13820
- By:
- Publication type:
- Article
Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 218, doi. 10.1002/mdc3.13398
- By:
- Publication type:
- Article
Macular dystrophies associated with Stargardt-like phenotypes.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2024, v. 87, n. 4, p. 1, doi. 10.5935/0004-2749.2021-0415
- By:
- Publication type:
- Article
Breaking bad news in ophthalmology: a literature review.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2024, v. 87, n. 1, p. 1, doi. 10.5935/0004-2749.2022-0104
- By:
- Publication type:
- Article
Early occurrence of primary angle-closure glaucoma in a patient with retinitis pigmentosa and CRB1 gene variations.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Rare disease day and Ophthalmology.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2021, v. 84, n. 4, p. 406, doi. 10.5935/0004-2749.202100106
- By:
- Publication type:
- Article
Retinal dystrophies and variants in PRPH2.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2019, v. 82, n. 2, p. 158, doi. 10.5935/0004-2749.20190033
- By:
- Publication type:
- Article
Exfoliation syndrome associated with LOXL1 gene polymorphisms in a Black patient from Latin America: a case report.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2018, v. 81, n. 5, p. 437, doi. 10.5935/0004-2749.20180084
- By:
- Publication type:
- Article
A Proposal for Classification of Retinal Degeneration in Spinocerebellar Ataxia Type 7.
- Published in:
- Cerebellum, 2021, v. 20, n. 3, p. 384, doi. 10.1007/s12311-020-01215-6
- By:
- Publication type:
- Article
Ophthalmic genetics in South America.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 753, doi. 10.1002/ajmg.c.31832
- By:
- Publication type:
- Article
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 728, doi. 10.1002/ajmg.c.31828
- By:
- Publication type:
- Article
Retinal function in patients treated with tamoxifen.
- Published in:
- Documenta Ophthalmologica, 2010, v. 120, n. 2, p. 137, doi. 10.1007/s10633-009-9203-8
- By:
- Publication type:
- Article
Rheumatic fever and long-term use of benzathine penicillin as possible risk factors for extensive macular atrophy with pseudodrusen in a Brazilian cohort.
- Published in:
- International Journal of Retina & Vitreous, 2024, v. 10, n. 1, p. 1, doi. 10.1186/s40942-024-00592-y
- By:
- Publication type:
- Article
Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127147
- By:
- Publication type:
- Article
Plasma ceramides as biomarkers for microvascular disease and clinical outcomes in diabetes and myocardial infarction.
- Published in:
- Clinical Diabetes & Endocrinology, 2024, v. 10, n. 1, p. 1, doi. 10.1186/s40842-024-00186-5
- By:
- Publication type:
- Article
A Vivência de Mães e Pais de Bebês Prematuros com Doença Ocular.
- Published in:
- Psicologia: Teoria e Pesquisa, 2019, v. 35, p. 1, doi. 10.1590/0102.3772e35nspe5
- By:
- 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
- By:
- Publication type:
- Article
RNA-based therapies in inherited retinal diseases.
- Published in:
- Therapeutic Advances in Ophthalmology, 2022, p. 1, doi. 10.1177/25158414221134602
- By:
- Publication type:
- Article
Human Leukocyte Antigen Class I Genes Associated With Stevens-Johnson Syndrome and Severe Ocular Complications Following Use of Cold Medicine in a Brazilian Population.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Retinitis Pigmentosa Due to Rp1 Biallelic Variants.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-58243-9
- By:
- Publication type:
- Article
Association of age and macular pigment optical density using dual-wavelength autofluorescence imaging.
- Published in:
- Clinical Ophthalmology, 2013, v. 7, p. 685, doi. 10.2147/OPTH.S42549
- By:
- Publication type:
- Article
Terson's syndrome as a prognostic factor for mortality of spontaneous subarachnoid haemorrhage.
- Published in:
- Acta Ophthalmologica (1755375X), 2011, v. 89, n. 6, p. 544, doi. 10.1111/j.1755-3768.2009.01735.x
- By:
- Publication type:
- Article
Lack of association between the 5-HTTLPR and positive screening for mental disorders among children exposed to urban violence and maltreatment.
- Published in:
- Brazilian Journal of Psychiatry / Revista Brasileira de Psiquiatria, 2014, v. 36, n. 4, p. 277, doi. 10.1590/1516-4446-2013-1150
- By:
- Publication type:
- Article
Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2.
- Published in:
- Movement Disorders, 2024, v. 39, n. 1, p. 203, doi. 10.1002/mds.29675
- By:
- Publication type:
- Article
Characterization of Retinal Architecture in Spinocerebellar Ataxia Type 3 and Correlation with Disease Severity.
- Published in:
- Movement Disorders, 2022, v. 37, n. 4, p. 758, doi. 10.1002/mds.28893
- By:
- Publication type:
- Article
Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Unusual case of double anterior segment with two lenses and double cataract in a 6-month child.
- Published in:
- European Journal of Ophthalmology, 2023, v. 33, n. 3, p. NP75, doi. 10.1177/11206721221091377
- By:
- Publication type:
- Article
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1521, doi. 10.1002/humu.23294
- By:
- Publication type:
- Article
Relative frequency of inherited retinal dystrophies in Brazil.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34380-0
- By:
- Publication type:
- Article
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.
- Published in:
- Genes, 2023, v. 14, n. 6, p. 1296, doi. 10.3390/genes14061296
- By:
- Publication type:
- Article
Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.
- Published in:
- Genes, 2021, v. 12, n. 7, p. 1069, doi. 10.3390/genes12071069
- By:
- Publication type:
- Article
Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 713, doi. 10.3390/genes12050713
- By:
- Publication type:
- Article
Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
- Published in:
- Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040378
- By:
- Publication type:
- Article
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.
- Published in:
- Genes, 2020, v. 11, n. 1, p. 24, doi. 10.3390/genes11010024
- By:
- Publication type:
- Article
Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 11876, doi. 10.3390/ijms241511876
- By:
- Publication type:
- Article
Novel codon 15 RHO gene mutation associated with retinitis pigmentosa.
- Published in:
- International Medical Case Reports Journal, 2018, v. 11, p. 339, doi. 10.2147/IMCRJ.S179105
- By:
- Publication type:
- Article
Vision-related quality of life in children with retinopathy of prematurity.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2015, v. 78, n. 4, p. 224, doi. 10.5935/0004-2749.20150058
- By:
- Publication type:
- Article
Retinose pigmentada unilateral secundária a trauma: relato de caso.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2012, v. 75, n. 3, p. 210, doi. 10.1590/S0004-27492012000300013
- By:
- Publication type:
- Article
Comparação do efeito antiangiogênico do ranibizumab e do bevacizumab in vitro.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2011, v. 74, n. 5, p. 338, doi. 10.1590/S0004-27492011000500006
- By:
- Publication type:
- Article
Terapia gênica em distrofias hereditárias de retina.
- Published in:
- Arquivos Brasileiros de Oftalmologia, 2009, v. 72, n. 4, p. 560, doi. 10.1590/S0004-27492009000400026
- By:
- Publication type:
- Article
Spectral-Domain Optical Coherence Tomography for Macular Edema.
- Published in:
- Scientific World Journal, 2014, p. 1, doi. 10.1155/2014/191847
- By:
- Publication type:
- Article