Associated Papers
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
37369098 (PubMed )
Supplement: BLOOD_BLD-2022-018833R2-mmc1.pdf
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: mmc2.xlsx › ST14
A Comprehensive Survey of Genomic Alterations in Gastric Cancer Reveals Recurrent Neoantigens as Potential Therapeutic Targets.
Chen C et al.
Biomed Research International, 2019
31781598 (PubMed )
Supplement: 2183510.f1.zip › 2183510.f1 › Supplementary_Table_S3.xlsx › Supplementary_Table_S2.xlsx
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
29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › CFH
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
Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.
Szarvas N et al.
Molecular Immunology, 2016
New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.
Rodriguez E et al.
Bioscience Reports, 2014
Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).
Westra D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
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