Associated Papers
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
Differences in kidney prognosis between congenital and infantile nephrotic syndrome.
Inoki Y et al.
Pediatric Nephrology (berlin, Germany), 2025
The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases?
Uğurlu Y et al.
Pediatric Nephrology (berlin, Germany), 2025
Transgenic human nephrin in Drosophila nephrocytes facilitates variant analysis.
Wolff JM et al.
Kidney International, 2025
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.
Soliman NA et al.
Human Genetics, 2025
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R et al.
Genes & Diseases, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.
Feng Y et al.
Orphanet Journal of Rare Diseases, 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
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).
Lu L et al.
Clinical Genetics, 2022
The Evaluation of Genetic Diagnosis on High-Risk Fetal CAKUT.
Liu W et al.
Frontiers in Genetics, 2022
The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.
Zhu X et al.
Frontiers in Medicine, 2022
Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.
Xiao M et al.
Frontiers in Medicine, 2022
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
Najafi M et al.
Frontiers in Pediatrics, 2022
Prenatal diagnosis of congenital nephrotic syndrome of the Finnish type in a Chinese family.
Gu Y et al.
Taiwanese Journal of Obstetrics & Gynecology, 2021
Expanded carrier screening using next-generation sequencing of 123 Hong Kong Chinese families: a pilot study.
Chan OYM et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2021
Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India.
Joshi A et al.
Indian Pediatrics, 2021
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study.
Rong L et al.
Frontiers in Medicine, 2021
Case Report: A Pathogenic Missense Variant of WT1 Cosegregates With Proteinuria in a Six-Generation Chinese Family With IgA Nephropathy.
Li Q et al.
Frontiers in Medicine, 2021
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group.
Lipska-Ziętkiewicz BS et al.
European Journal of Human Genetics : Ejhg, 2020
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent.
Rosenblum LS et al.
Journal of Genetic Counseling, 2020
Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls.
Deng H et al.
Frontiers in Pediatrics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Analysis of 14 Patients With Congenital Nephrotic Syndrome.
Chen Y et al.
Frontiers in Pediatrics, 2019
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome.
Li GM et al.
Bmc Nephrology, 2018
Structural Basis of Highly Specific Interaction between Nephrin and MAGI1 in Slit Diaphragm Assembly and Signaling.
Weng Z et al.
Journal of the American Society of Nephrology : Jasn, 2018
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Warejko JK et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2018
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome.
Abid A et al.
Frontiers in Genetics, 2018
Characterization of a novel disease-associated mutation within NPHS1 and its effects on nephrin phosphorylation and signaling.
Cooper CJ et al.
Plos One, 2018
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
Wang F et al.
Pediatric Nephrology (berlin, Germany), 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
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
Bullich G et al.
European Journal of Human Genetics : Ejhg, 2015
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O et al.
Pediatric Nephrology (berlin, Germany), 2015
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation.
Holmberg C et al.
Pediatric Nephrology (berlin, Germany), 2014
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
Kari JA et al.
Pediatric Nephrology (berlin, Germany), 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
Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.
Wong W et al.
Pediatric Nephrology (berlin, Germany), 2013
Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.
Joshi S et al.
Acta Paediatrica (oslo, Norway : 1992), 2013
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
Abid A et al.
Gene, 2012
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.
Ovunc B et al.
Nephron. Clinical Practice, 2012
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Schoeb DS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.
Benoit G et al.
Pediatric Nephrology (berlin, Germany), 2010
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E et al.
Journal of the American Society of Nephrology : Jasn, 2010
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Santín S et al.
Kidney International, 2009