Associated Papers
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
Sen ES et al.
Journal of Medical Genetics, 2017
28780565 (PubMed )
Supplement: jmedgenet-2017-104811supp002.docx
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A et al.
Kidney International, 2017
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
Kari JA et al.
Pediatric Nephrology (berlin, Germany), 2014
Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.
Wong W et al.
Pediatric Nephrology (berlin, Germany), 2013
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
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.
Schultheiss M et al.
Pediatric Nephrology (berlin, Germany), 2004
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