Associated Papers
Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Tato AM et al.
Clinical Kidney Journal, 2023
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
Electronic microarray screening of podocin mutations: a single-center study.
Sakallioglu O et al.
International Urology and Nephrology, 2008
[Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive].
Boute N et al.
Nephrologie, 2002
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Boute N et al.
Nature Genetics, 2000
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