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
Genetic diagnosis of Alport syndrome in 16 Chinese families.
Xiao T et al.
Molecular Genetics & Genomic Medicine, 2024
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
NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.
Omachi K et al.
Iscience, 2022
Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.
Gao M et al.
Frontiers in Genetics, 2022
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases.
Mastrangelo A et al.
Frontiers in Medicine, 2020
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
[Clinical and pathological features and the misdiagnosis of childhood Alport syndrome: a retrospective analysis of 91 cases].
Chen YZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.
Liu JH et al.
Plos One, 2017
Spontaneous Coronary Artery Dissection: A Rare Manifestation of Alport Syndrome.
Anuwatworn A et al.
Case Reports in Cardiology, 2017
Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.
Tan R et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2010
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
Martin P et al.
Human Mutation, 2000
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