Associated Papers
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.
Soliman NA et al.
Human Genetics, 2025
Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome.
Yavaş C et al.
Revista Da Associacao Medica Brasileira (1992), 2022
Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.
Albarry MA et al.
Plos One, 2021
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
A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.
Fu Y et al.
Human Molecular Genetics, 2017
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Gast C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016
A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood.
Tsvetkov D et al.
Clinical Medicine Insights. Case Reports, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
Al-Hamed MH et al.
Journal of Human Genetics, 2013
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
Benoit G et al.
Pediatric Nephrology (berlin, Germany), 2010
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS).
Gigante M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009