Associated Papers
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
Revealing tumor heterogeneity of breast cancer by utilizing the linkage between somatic and germline mutations.
Zou M et al.
Briefings in Bioinformatics, 2019
30239581 (PubMed )
Supplement: bby084_supp.zip › Supplementary_Table_3.xlsx › Driver_SNVs
A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.
Zhuo L et al.
Bmc Medical Genetics, 2019
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.
Wang Y et al.
Gene, 2017
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
Guaragna MS et al.
Nephrology (carlton, Vic.), 2016
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
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O et al.
Pediatric Nephrology (berlin, Germany), 2015
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
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Santín S et al.
Kidney International, 2009
Clinical features and outcome of childhood minimal change nephrotic syndrome: is genetics involved?
Lahdenkari AT et al.
Pediatric Nephrology (berlin, Germany), 2005
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
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.
Patrakka J et al.
Kidney International, 2000
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