Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.
Kitakado H et al.
Kidney International Reports, 2025
Kidney Cysts in Autosomal Dominant Polycystic Kidney Disease and Alport Syndrome: Two Familial Cases Illustrating Diagnostic Challenges.
Bais T et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2025
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
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
A multicenter study investigating the genetic analysis of childhood steroid-resistant nephrotic syndrome: Variants in COL4A5 may not be coincidental.
Li S et al.
Plos One, 2024
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.
Hadjipanagi D et al.
Genes, 2022
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.
Ćomić J et al.
Frontiers in Medicine, 2022
Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.
Zhao X et al.
Molecular Genetics & Genomic Medicine, 2019
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.
Zhang X et al.
Orphanet Journal of Rare Diseases, 2018
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
Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel.
Mori T et al.
Clinical and Experimental Nephrology, 2017
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Gast C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J et al.
Plos One, 2016
Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.
Gibson J et al.
Genetics Research, 2013
Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.
Tazón-Vega B et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2007
Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.
Slajpah M et al.
Kidney International, 2007
Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
Wang F et al.
Kidney International, 2005
Confocal microscopy of the skin in the diagnosis of X-linked Alport syndrome.
Muda AO et al.
The Journal of Investigative Dermatology, 2003
Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.
Barker DF et al.
American Journal of Medical Genetics, 2001
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
Neri TM et al.
Human Mutation, 1998
The clinical spectrum of type IV collagen mutations.
Lemmink HH et al.
Human Mutation, 1997
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
Renieri A et al.
American Journal of Human Genetics, 1996