Associated Papers
Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Connaughton DM et al.
Journal of Molecular Medicine (berlin, Germany), 2023
An Evaluation of the Complement-Regulating Activities of Human Complement Factor H (FH) Variants Associated With Age-Related Macular Degeneration.
Biggs RM et al.
Investigative Ophthalmology & Visual Science, 2022
Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.
Farinha C et al.
Investigative Ophthalmology & Visual Science, 2022
35925583 (PubMed )
Supplement: iovs-63-9-5_s002.pdf
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
de Jong S et al.
Human Molecular Genetics, 2022
34508573 (PubMed )
Supplement: supp_table_1_ddab256.xlsx › individual_variants
Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
Lauwen S et al.
Molecular Vision, 2022
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration.
Lorés-Motta L et al.
American Journal of Human Genetics, 2021
34260947 (PubMed )
Supplement: mmc1.pdf
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Geerlings MJ et al.
Clinical Genetics, 2018
Diseases of complement dysregulation-an overview.
Wong EKS et al.
Seminars in Immunopathology, 2018
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.
Geerlings MJ et al.
Molecular Immunology, 2017
27939104 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
The spectrum of phenotypes caused by variants in the CFH gene.
Boon CJ et al.
Molecular Immunology, 2009
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