Associated Papers
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor RL et al.
Ophthalmology, 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
29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › CFH
Hemolytic Uremic Syndrome in Pregnancy and Postpartum.
Bruel A et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2017
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
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
Membrano-proliferative glomerulonephritis, atypical hemolytic uremic syndrome, and a new complement factor H mutation: report of a case.
Gnappi E et al.
Pediatric Nephrology (berlin, Germany), 2012
Factor h: a complement regulator in health and disease, and a mediator of cellular interactions.
Kopp A et al.
Biomolecules, 2012
Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.
Fakhouri F et al.
Journal of the American Society of Nephrology : Jasn, 2010
The pivotal role of the complement system in aging and age-related macular degeneration: hypothesis re-visited.
Anderson DH et al.
Progress in Retinal and Eye Research, 2010
The spectrum of phenotypes caused by variants in the CFH gene.
Boon CJ et al.
Molecular Immunology, 2009
Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis.
Montes T et al.
Molecular Immunology, 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
Select a paper to view details