Associated Papers
Analysis of Complement Factor H gene polymorphisms and their association with clinical manifestations ofleptospirosis.
Santiesteban-Lores LE et al.
Immunogenetics, 2024
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
Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.
Haydock L et al.
Journal of Molecular Medicine (berlin, Germany), 2022
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
Whole-genome sequencing of recurrent neuroblastoma reveals somatic mutations that affect key players in cancer progression and telomere maintenance.
Fransson S et al.
Scientific Reports, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
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
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo T et al.
Research and Practice in Thrombosis and Haemostasis, 2017
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
The genome of a Mongolian individual reveals the genetic imprints of Mongolians on modern human populations.
Bai H et al.
Genome Biology and Evolution, 2014
Atypical HUS associated with severe, unexpected antibody-mediated rejection post kidney transplant.
Stevenson S et al.
Nephrology (carlton, Vic.), 2014
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.
Bresin E et al.
Journal of the American Society of Nephrology : Jasn, 2013
Age-related penetrance of hereditary atypical hemolytic uremic syndrome.
Sullivan M et al.
Annals of Human Genetics, 2011
Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus.
Jönsen A et al.
Arthritis Research & Therapy, 2011
Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.
Sullivan M et al.
Annals of Human Genetics, 2010
Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
Boon CJ et al.
American Journal of Human Genetics, 2008
Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.
de Córdoba SR et al.
Clinical and Experimental Immunology, 2008
Pathogenesis of thrombotic microangiopathies.
Zheng XL et al.
Annual Review of Pathology, 2008
The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.
Saunders RE et al.
Human Mutation, 2007
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
Venables JP et al.
Plos Medicine, 2006
Complement dysfunction in hemolytic uremic syndrome.
Zipfel PF et al.
Current Opinion in Rheumatology, 2006
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome.
Heinen S et al.
Human Mutation, 2006
An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations.
Saunders RE et al.
Human Mutation, 2006
Atypical haemolytic uraemic syndrome.
Kavanagh D et al.
British Medical Bulletin, 2006
The human complement factor H: functional roles, genetic variations and disease associations.
Rodríguez de Córdoba S et al.
Molecular Immunology, 2004
Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.
Sánchez-Corral P et al.
American Journal of Human Genetics, 2002