Detalhe da pesquisa
1.
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Hum Mol Genet
; 31(3): 455-470, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508573
2.
Effect of rare coding variants in the CFI gene on Factor I expression levels.
Hum Mol Genet
; 29(14): 2313-2324, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32510551
3.
Common and rare variants in patients with early onset drusen maculopathy.
Clin Genet
; 102(5): 414-423, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053979
4.
Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study.
Mol Vis
; 27: 757-767, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35136347
5.
Genetic Risk, Lifestyle, and Age-Related Macular Degeneration in Europe: The EYE-RISK Consortium.
Ophthalmology
; 128(7): 1039-1049, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33253757
6.
Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium.
Ophthalmology
; 128(11): 1604-1617, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32717343
7.
Integrating Metabolomics, Genomics, and Disease Pathways in Age-Related Macular Degeneration: The EYE-RISK Consortium.
Ophthalmology
; 127(12): 1693-1709, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553749
8.
RETINAL HYPERREFLECTIVE FOCI IN TYPE 1 DIABETES MELLITUS.
Retina
; 40(8): 1565-1573, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31356496
9.
Retinal Capillary Abnormalities in Sjögren-Larsson Syndrome Maculopathy.
Case Rep Ophthalmol
; 13(2): 341-349, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35702653
10.
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three patients with age-related macular degeneration carrying rare variants in the CFH gene.
Stem Cell Res
; 60: 102669, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063911
11.
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three individuals without age-related macular degeneration.
Stem Cell Res
; 60: 102670, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35078129
12.
Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.
Stem Cell Res
; 62: 102797, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35526386
13.
Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene.
Stem Cell Res
; 62: 102796, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35526389
14.
Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.
Front Immunol
; 12: 789897, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35069568
15.
Genetic Risk in Families with Age-Related Macular Degeneration.
Ophthalmol Sci
; 1(4): 100087, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36246952
16.
Implications of genetic variation in the complement system in age-related macular degeneration.
Prog Retin Eye Res
; 84: 100952, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33610747
17.
Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
JAMA Ophthalmol
; 139(11): 1218-1226, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34647987
18.
Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.
Clin Transl Immunology
; 9(12): e1225, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33318796