Associated Papers
A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants.
Zeng M et al.
Kidney International Reports, 2025
Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.
Halat-Wolska P et al.
Genes, 2025
A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.
Li H et al.
Frontiers in Genetics, 2025
Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study.
Juan-Juan D et al.
Global Pediatric Health, 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
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Deltas C et al.
Genes, 2023
Severe restless legs syndrome in a family with Alport syndrome.
Sparasci D et al.
Bmc Nephrology, 2021
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
A Split-Luciferase-Based Trimer Formation Assay as a High-throughput Screening Platform for Therapeutics in Alport Syndrome.
Omachi K et al.
Cell Chemical Biology, 2018
Personalized oncogenomic analysis of metastatic adenoid cystic carcinoma: using whole-genome sequencing to inform clinical decision-making.
Chahal M et al.
Cold Spring Harbor Molecular Case Studies, 2018
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.
Daga S et al.
Human Mutation, 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
Prognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.
Massella L et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Epidermal basement membrane alpha 5(IV) expression in females with Alport syndrome and severity of renal disease.
Massella L et al.
Kidney International, 2003
Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
Inoue Y et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 1999