Associated Papers
The potential of deep learning on the discovery of new genes implicated in differences of sex development.
von der Decken I et al.
Computational and Structural Biotechnology Journal, 2026
Establishing a nanoluciferase-based assay as a high-throughput screening platform for therapeutics in congenital nephrotic syndrome.
Tsuhako H et al.
Journal of Pharmacological Sciences, 2025
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á et al.
Human Mutation, 2021
[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
A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.
Zhuo L et al.
Bmc Medical Genetics, 2019
Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis.
Frese J et al.
International Journal of Molecular Sciences, 2019
Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.
Siji A et al.
Bmc Medical Genetics, 2018
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
Yang F et al.
Journal of Genetics, 2016
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.
Weber S et al.
Pediatric Nephrology (berlin, Germany), 2016
NPHS2 mutations account for only 15% of nephrotic syndrome cases.
Guaragna MS et al.
Bmc Medical Genetics, 2015
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O et al.
Pediatric Nephrology (berlin, Germany), 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
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
McCarthy HJ et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
Abid A et al.
Gene, 2012
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Büscher AK et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2010
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
Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type.
Tikhomirov E et al.
Human Genetics, 2008
Gross proteinuria post transplant in a child with nephrotic syndrome of the Finnish type--mechanical vs immunological pathogenesis.
Lorton F et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006
Clinical features and outcome of childhood minimal change nephrotic syndrome: is genetics involved?
Lahdenkari AT et al.
Pediatric Nephrology (berlin, Germany), 2005
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.
Schultheiss M et al.
Pediatric Nephrology (berlin, Germany), 2004
Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS).
Lahdenkari AT et al.
Kidney International, 2004
Polymorphisms in the nephrin gene and diabetic nephropathy in type 1 diabetic patients.
Pettersson-Fernholm K et al.
Kidney International, 2003
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