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Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
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Kidney International Reports, 2025
41141495 (PubMed )
Supplement: mmc1.pdf
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
40873808 (PubMed )
Supplement: sfaf194_Supplemental_File.docx
Variable treatment response to lumasiran in pediatric patients with primary hyperoxaluria type 1.
Saffe S et al.
Pediatric Nephrology (berlin, Germany), 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2G.Vars_in_all_genes_Family
Homozygous GRHPR C.494G>A mutation is deleterious that causes early onset of nephrolithiasis in West Bengal, India.
Chatterjee A et al.
Frontiers in Molecular Biosciences, 2022
Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.
Murad H et al.
Bmc Medical Genomics, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1.
Dulz S et al.
Ophthalmic Genetics, 2018
AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
Boualla L et al.
Genetic Testing and Molecular Biomarkers, 2015
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
Hopp K et al.
Journal of the American Society of Nephrology : Jasn, 2015
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