Associated Papers
Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.
Amr KS et al.
Molecular Biology Reports, 2025
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kachmar J et al.
Kidney International Reports, 2024
A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.
Mason AE et al.
Pediatric Nephrology (berlin, Germany), 2021
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M et al.
Pediatric Nephrology (berlin, Germany), 2018
Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.
Thomas MM et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018
NPHS2 Mutations: A Closer Look to Latin American Countries.
Guaragna MS et al.
Biomed Research International, 2017
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
Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.
Lazzeri E et al.
Journal of the American Society of Nephrology : Jasn, 2015
Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.
Giglio S et al.
Journal of the American Society of Nephrology : Jasn, 2015
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
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Kerti A et al.
Pediatric Nephrology (berlin, Germany), 2013
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