Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 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
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Thomasová D et al.
Frontiers in Medicine, 2023
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
Lehmkuhl P et al.
Cellular & Molecular Immunology, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant.
Tory K
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2019
In Reply to 'Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant'.
Rood IM
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2019
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Yao T et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 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
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.
Mikó Á et al.
Human Mutation, 2018
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
C-terminal oligomerization of podocin mediates interallelic interactions.
Stráner P et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
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
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
Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report.
Hoefele J et al.
Nephron, 2017
The amino acid mutations of the podocin in proteinuria: a meta-analysis.
Lu L et al.
Renal Failure, 2015
NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome.
Dai Y et al.
Renal Failure, 2014
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
Bińczak-Kuleta A et al.
Bosnian Journal of Basic Medical Sciences, 2014
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Bouchireb K et al.
Human Mutation, 2014
Gene mutations and steroid-resistant nephrotic syndrome.
Mahdavi-Mazdeh M
Iranian Journal of Kidney Diseases, 2013
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.
Lipska BS et al.
Journal of Applied Genetics, 2013
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Kerti A et al.
Pediatric Nephrology (berlin, Germany), 2013
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
Reiterová J et al.
Folia Biologica, 2012
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
Plasmapheresis-induced clinical improvement in a patient with steroid-resistant nephrotic syndrome due to podocin (NPHS2) gene mutation.
Skálová S et al.
Acta Medica (hradec Kralove), 2010
NPHS2 mutations in children with steroid-resistant nephrotic syndrome.
Otukesh H et al.
Iranian Journal of Kidney Diseases, 2009
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.
Hinkes B et al.
Journal of the American Society of Nephrology : Jasn, 2008
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
Berdeli A et al.
Pediatric Nephrology (berlin, Germany), 2007
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
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.
Schultheiss M et al.
Pediatric Nephrology (berlin, Germany), 2004
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
NPHS2 gene sequencing results in children of the Azerbaijani population with different types of nephrotic syndrome caused by chronic glomerulonephritis.
Baylarov R et al.
Bratislavske Lekarske Listy, 0
NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.
Baylarov R et al.
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0
Genetic screening in children with challenging nephrotic syndrome.
Saeed B
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0