Associated Papers
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R et al.
Genes & Diseases, 2025
39584075 (PubMed )
Supplement: mmc2.pdf
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2a._Diagnostic_cohort
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE et al.
Journal of the American Society of Nephrology : Jasn, 2015
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
Löwik MM et al.
European Journal of Pediatrics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Hinkes B et al.
Nature Genetics, 2006
Select a paper to view details