Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
Effect of the allelic background on the phenotype of primary hyperoxaluria type I.
Mandrile G et al.
Current Opinion in Nephrology and Hypertension, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Comprehensive evaluation of patients with primary hyperoxaluria type 1: A nationwide study.
Bakkaloğlu SA et al.
Nephrology (carlton, Vic.), 2024
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
Murad H et al.
Bmc Medical Genomics, 2021
A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.
Xu CB et al.
Bmc Nephrology, 2021
Novel mutations in response to vitamin B6 in primary hyperoxaluria type 1 after only kidney transplantation: a case report.
Zhao Y et al.
Translational Andrology and Urology, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Updated Genetic Testing of Primary Hyperoxaluria Type 1 in a Chinese Population: Results from a Single Center Study and a Systematic Review.
Du DF et al.
Current Medical Science, 2018
Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6.
Dindo M et al.
Journal of Inherited Metabolic Disease, 2018
Folding Defects Leading to Primary Hyperoxaluria.
Oppici E et al.
Handbook of Experimental Pharmacology, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype-phenotype correlation.
M'Dimegh S et al.
Journal of Genetics, 2016
Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.
Williams EL et al.
Molecular Genetics & Genomic Medicine, 2015
Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis.
Monico CG et al.
Journal of the American Society of Nephrology : Jasn, 2007
Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype.
Coulter-Mackie MB
American Journal of Nephrology, 0