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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India.
Joshi A et al.
Indian Pediatrics, 2021
Genetic Testing in Pediatric Kidney Disease.
Arora V et al.
Indian Journal of Pediatrics, 2020
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series.
Sinha R et al.
Nephron, 2020
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome.
Abid A et al.
Frontiers in Genetics, 2018
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
Yang F et al.
Journal of Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
Bullich G et al.
European Journal of Human Genetics : Ejhg, 2015
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O et al.
Pediatric Nephrology (berlin, Germany), 2015
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
Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.
Uysal B et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
Kari JA et al.
Pediatric Nephrology (berlin, Germany), 2014
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
Lovric S et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2014
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.
Ovunc B et al.
Nephron. Clinical Practice, 2012
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Schoeb DS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E et al.
Journal of the American Society of Nephrology : Jasn, 2010
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Santín S et al.
Kidney International, 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
Genetic forms of nephrotic syndrome: a single-center experience in Brussels.
Ismaili K et al.
Pediatric Nephrology (berlin, Germany), 2009
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
Heeringa SF et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type.
Tikhomirov E et al.
Human Genetics, 2008
Defective trafficking of nephrin missense mutants rescued by a chemical chaperone.
Liu XL et al.
Journal of the American Society of Nephrology : Jasn, 2004
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
Liu L et al.
Human Molecular Genetics, 2001
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
Beltcheva O et al.
Human Mutation, 2001
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
Lenkkeri U et al.
American Journal of Human Genetics, 1999
Genetic screening in children with challenging nephrotic syndrome.
Saeed B
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0