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Major Predictive Factors for Progression of Early to Late Age-Related Macular Degeneration.
- Published in:
- Ophthalmologica, 2020, v. 243, n. 6, p. 444, doi. 10.1159/000507196
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- Article
Corrigendum to “Nutritional Risk Factors for Age-Related Macular Degeneration”.
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- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/7589328
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- Publication type:
- Article
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.
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- Journal of Personalized Medicine, 2021, v. 11, n. 12, p. 1256, doi. 10.3390/jpm11121256
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- Publication type:
- Article
Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.
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- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0608-2
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- Publication type:
- Article
Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3194, doi. 10.3390/ijms23063194
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- Article
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
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- Journal of Clinical Investigation, 2012, v. 122, n. 4, p. 1233, doi. 10.1172/JCI60981
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- Article
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
- Published in:
- 2011
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- Publication type:
- journal article
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.
- Published in:
- Journal of Clinical Investigation, 2010, v. 120, n. 9, p. 3042, doi. 10.1172/JCI42258
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- Publication type:
- Article
Systemic Metabolomics in a Framework of Genetics and Lifestyle in Age-Related Macular Degeneration.
- Published in:
- Metabolites (2218-1989), 2023, v. 13, n. 6, p. 701, doi. 10.3390/metabo13060701
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- Article
Metabolomics and Age-Related Macular Degeneration.
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- Metabolites (2218-1989), 2019, v. 9, n. 1, p. 4, doi. 10.3390/metabo9010004
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- Publication type:
- Article
Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.
- Published in:
- Frontiers in Immunology, 2022, v. 12, p. 1, doi. 10.3389/fimmu.2021.789897
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- Publication type:
- Article
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 757, doi. 10.1038/ng.3319
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- Publication type:
- Article
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
- Published in:
- Nature Genetics, 2010, v. 42, n. 2, p. 175, doi. 10.1038/ng.519
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- Publication type:
- Article
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
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- Nature Genetics, 2009, v. 41, n. 6, p. 739, doi. 10.1038/ng.366
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- Publication type:
- Article
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
- Published in:
- Nature Genetics, 2007, v. 39, n. 7, p. 889, doi. 10.1038/ng2066
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- Publication type:
- Article
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
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- Nature Genetics, 1999, v. 23, n. 2, p. 217, doi. 10.1038/13848
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- Article
Complement C3 Associates With Incidence of Diabetes, but No Evidence of a Causal Relationship.
- Published in:
- 2017
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- Publication type:
- journal article
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration.
- Published in:
- Scientific Reports, 2016, p. 37924, doi. 10.1038/srep37924
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- Publication type:
- Article
A Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo.
- Published in:
- Scientific Reports, 2016, p. 26568, doi. 10.1038/srep26568
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- Publication type:
- Article
Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119806
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- Publication type:
- Article
Zinc Supplementation Inhibits Complement Activation in Age-Related Macular Degeneration.
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- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112682
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- Publication type:
- Article
Association of a Polymorphism in the <i>BIRC6</i> Gene with Pseudoexfoliative Glaucoma.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105023
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- Publication type:
- Article
Analysis of Rare Variants in the <i>C3</i> Gene in Patients with Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094165
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- Publication type:
- Article
Impact of the Common Genetic Associations of Age-Related Macular Degeneration upon Systemic Complement Component C3d Levels.
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- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0093459
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- Publication type:
- Article
Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0051622
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- Publication type:
- Article
The p53 Codon 72 PRO/PRO Genotype May Be Associated with Initial Central Visual Field Defects in Caucasians with Primary Open Angle Glaucoma.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045613
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- Publication type:
- Article
Melanoregulin, Product of the dsu Locus, Links the BLOC-Pathway and Oa1 in Organelle Biogenesis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0042446
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- Publication type:
- Article
Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype.
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- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043251
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- Publication type:
- Article
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.
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- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 155, doi. 10.1038/sj.ejhg.5200942
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- Article
Systemic complement activation levels in Stargardt disease.
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- PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0253716
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- Publication type:
- Article
Janus Kinase Inhibitor Therapy and Risk of Age-Related Macular Degeneration in Autoimmune Disease.
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- JAMA Ophthalmology, 2024, v. 142, n. 8, p. 750, doi. 10.1001/jamaophthalmol.2024.2376
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- Publication type:
- Article
Association of Risk Variants in the CFH Gene With Elevated Levels of Coagulation and Complement Factors in Idiopathic Multifocal Choroiditis.
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- JAMA Ophthalmology, 2023, v. 141, n. 8, p. 737, doi. 10.1001/jamaophthalmol.2023.2557
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- Publication type:
- Article
Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
- Published in:
- 2021
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- Publication type:
- journal article
Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study.
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- 2018
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- Publication type:
- journal article
Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.
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- 2017
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- Publication type:
- journal article
Association of a Haplotype in the NR3C2 Gene, Encoding the Mineralocorticoid Receptor, With Chronic Central Serous Chorioretinopathy.
- Published in:
- 2017
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- Publication type:
- journal article
The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.
- Published in:
- 2017
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- Publication type:
- journal article
Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.
- Published in:
- 2016
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- Publication type:
- journal article
Association of Smoking and CFH and ARMS2 Risk Variants With Younger Age at Onset of Neovascular Age-Related Macular Degeneration.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 5, p. 533, doi. 10.1001/jamaophthalmol.2015.18
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- Publication type:
- Article
Nonpenetrance of the Most Frequent Autosomal Recessive Leber Congenital Amaurosis Mutation in NMNAT1.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 8, p. 1002, doi. 10.1001/jamaophthalmol.2014.983
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- Publication type:
- Article
Exome sequencing in patients with chronic central serous chorioretinopathy.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-43152-3
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- Publication type:
- Article
Genetic risk score has added value over initial clinical grading stage in predicting disease progression in age-related macular degeneration.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-43144-3
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- Publication type:
- Article
Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.
- Published in:
- BMC Genetics, 2010, v. 11, p. 102, doi. 10.1186/1471-2156-11-102
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- Publication type:
- Article
Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
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- Molecular Vision, 2022, v. 28, p. 536
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- Publication type:
- Article
Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study.
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- Molecular Vision, 2021, v. 27, p. 757
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- Article
Genetic and environmental risk factors for extramacular drusen.
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- Molecular Vision, 2020, v. 26, p. 661
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- Article
Geographic distribution of rare variants associated with agerelated macular degeneration.
- Published in:
- Molecular Vision, 2018, v. 24, p. 75
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- Publication type:
- Article
Risk factors for progression of age‐related macular degeneration.
- Published in:
- Ophthalmic & Physiological Optics, 2020, v. 40, n. 2, p. 140, doi. 10.1111/opo.12675
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- Publication type:
- Article
ERAP2 Increases the Abundance of a Peptide Submotif Highly Selective for the Birdshot Uveitis-Associated HLA-A29.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.634441
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- Publication type:
- Article
Characterization of XAGE-1b, a short major transcript of cancer/testis-associated gene XAGE-1, induced in melanoma metastasis.
- Published in:
- International Journal of Cancer, 2002, v. 97, n. 2, p. 195, doi. 10.1002/ijc.1584
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- Publication type:
- Article