Associated Papers
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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.
Liu X et al.
Clinical Kidney Journal, 2025
Managing venous thrombosis in a pediatric patient with short bowel and congenital nephrotic syndromes: a case report emphasizing rivaroxaban level monitoring.
Bosch-Schips M et al.
Frontiers in Pediatrics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 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
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
Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic.
Kirwin SM et al.
Delaware Journal of Public Health, 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
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
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
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.
Nguyen TK et al.
Case Reports in Genetics, 2017
Congenital nephrotic syndrome with a novel NPHS1 mutation.
Yoshizawa C et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
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
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.
Fu R et al.
Genetics and Molecular Research : Gmr, 2015
Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.
Wong W et al.
Pediatric Nephrology (berlin, Germany), 2013
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
Mutations in NPHS1 in a Chinese child with congenital nephrotic syndrome.
Yu ZH et al.
Genetics and Molecular Research : Gmr, 2012
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Santín S et al.
Kidney International, 2009
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.
Lee BH et al.
Journal of Korean Medical Science, 2009
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
Beltcheva O et al.
Human Mutation, 2001
The Frequency of Genetic Mutations in Pediatric Patients Diagnosed with Nephrotic Syndrome: A Single-Center Retrospective Study in Saudi Arabia.
Almokali K et al.
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0