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
Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin.
Jankowski M et al.
Human Mutation, 2024
Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.
Thomas MM et al.
Molecular Genetics and Genomics : Mgg, 2022
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
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
NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome.
Dai Y et al.
Renal Failure, 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
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Bouchireb K et al.
Human Mutation, 2014
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Kerti A et al.
Pediatric Nephrology (berlin, Germany), 2013
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
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
Caridi G et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2009
NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome.
Voskarides K et al.
Pediatric Nephrology (berlin, Germany), 2008
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
Berdeli A et al.
Pediatric Nephrology (berlin, Germany), 2007
Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.
Ozçakar ZB et al.
Pediatric Nephrology (berlin, Germany), 2006
NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.
Caridi G et al.
Pediatric Research, 2005
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.
Zhang SY et al.
Kidney International, 2004
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
Weber S et al.
Kidney International, 2004
Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin.
Caridi G et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2004
Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin.
Bertelli R et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2003
NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children.
Maruyama K et al.
Pediatric Nephrology (berlin, Germany), 2003
Broadening the spectrum of diseases related to podocin mutations.
Caridi G et al.
Journal of the American Society of Nephrology : Jasn, 2003
Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome.
Carraro M et al.
Journal of the American Society of Nephrology : Jasn, 2002
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
Karle SM et al.
Journal of the American Society of Nephrology : Jasn, 2002
[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
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.
Caridi G et al.
Journal of the American Society of Nephrology : Jasn, 2001
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Boute N et al.
Nature Genetics, 2000