Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kachmar J et al.
Kidney International Reports, 2024
Urine-derived podocytes from steroid resistant nephrotic syndrome patients as a model for renal-progenitor derived extracellular vesicles effect and drug screening.
Tanzi A et al.
Research Square, 2024
What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.
Mitrotti A et al.
International Journal of Molecular Sciences, 2024
Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Tato AM et al.
Clinical Kidney Journal, 2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 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
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
Mann N et al.
Journal of the American Society of Nephrology : Jasn, 2019
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.
Mikó Á et al.
Human Mutation, 2018
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Bouchireb K et al.
Human Mutation, 2014
Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.
Yu Z et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2005
NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.
Caridi G et al.
Pediatric Research, 2005
[Steroid-resistant nephrotic syndrome and NPHS2 gene].
Yu ZH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005
A novel mutation of NPHS2 identified in a Chinese family.
Yu Z et al.
Pediatric Nephrology (berlin, Germany), 2004
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
[A novel mutation of NPHS2 identified in a Chinese family with steroid-resistant nephrotic syndrome].
Yu ZH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004