Associated Papers
Consanguinity-linked genetic variants in Algerian patients with steroid-resistant nephrotic syndrome: a familial study.
Azouaou L et al.
Pediatric Nephrology (berlin, Germany), 2026
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
Clinical Presentation, Genetic Testing, and Outcome of Congenital Nephrotic Syndrome in KwaZulu-Natal, South Africa.
Bhimma R et al.
Nephron, 2025
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 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
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Al Riyami MS et al.
Molecular Genetics & Genomic Medicine, 2023
Hiding in plain sight: genetics of childhood steroid-resistant nephrotic syndrome in Sub-Saharan Africa.
Williams AE et al.
Pediatric Nephrology (berlin, Germany), 2023
Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life.
Elshafey SA et al.
Acta Paediatrica (oslo, Norway : 1992), 2023
Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa.
Nandlal L et al.
European Journal of Pediatrics, 2022
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
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 2021
Treatment of steroid-resistant nephrotic syndrome in the genomic era.
Bensimhon AR et al.
Pediatric Nephrology (berlin, Germany), 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis.
Govender MA et al.
Communications Biology, 2019
NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children.
Asharam K et al.
Kidney International Reports, 2018
Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.
Sambuughin N et al.
Case Reports in Genetics, 2018
Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant.
Feltran LS et al.
Transplantation, 2017
Contribution of the TTC21B gene to glomerular and cystic kidney diseases.
Bullich G et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017
NPHS2 Mutations: A Closer Look to Latin American Countries.
Guaragna MS et al.
Biomed Research International, 2017
NPHS2 mutations account for only 15% of nephrotic syndrome cases.
Guaragna MS et al.
Bmc Medical Genetics, 2015
The amino acid mutations of the podocin in proteinuria: a meta-analysis.
Lu L et al.
Renal Failure, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Bouchireb K et al.
Human Mutation, 2014
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
Al-Hamed MH et al.
Journal of Human Genetics, 2013
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
Abid A et al.
Gene, 2012
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E et al.
Journal of the American Society of Nephrology : Jasn, 2010
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
NPHS2 variation in focal and segmental glomerulosclerosis.
Tonna SJ et al.
Bmc Nephrology, 2008
Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.
Weber S et al.
Transplantation, 2005
NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.
Caridi G et al.
Pediatric Research, 2005
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
Weber S et al.
Kidney International, 2004
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
Roselli S et al.
Traffic (copenhagen, Denmark), 2004
Steroid-resistant nephrotic syndrome: impact of genetic testing.
Kari JA et al.
Annals of Saudi Medicine, 0