Associated Papers
Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis.
Liu YX et al.
Frontiers in Pediatrics, 2021
Recessive mutation in CD2AP causes focal segmental glomerulosclerosis in humans and mice.
Takano T et al.
Kidney International, 2019
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability.
Crawford BD et al.
Pediatric Nephrology (berlin, Germany), 2017
ABCA7 p.G215S as potential protective factor for Alzheimer's disease.
Sassi C et al.
Neurobiology of Aging, 2016
Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.
Sampson MG et al.
Journal of the American Society of Nephrology : Jasn, 2016
A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood.
Tsvetkov D et al.
Clinical Medicine Insights. Case Reports, 2016
Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.
Vardarajan BN et al.
Annals of Neurology, 2015
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
Benoit G et al.
Pediatric Nephrology (berlin, Germany), 2010
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.
Löwik M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
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