Associated Papers
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.
Mandrile G et al.
Clinical Kidney Journal, 2025
Primary hyperoxaluria type 3: from infancy to adulthood in a genetically unique cohort.
Julius M et al.
Pediatric Nephrology (berlin, Germany), 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status.
Zhu X et al.
Kidney Diseases (basel, Switzerland), 2024
A molecular journey on the pathogenesis of primary hyperoxaluria.
Cellini B
Current Opinion in Nephrology and Hypertension, 2024
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships.
Ge Y et al.
World Journal of Urology, 2023
The retinal phenotype in primary hyperoxaluria type 2 and 3.
Birtel J et al.
Pediatric Nephrology (berlin, Germany), 2023
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E et al.
Genes, 2023
Genetic assessment in primary hyperoxaluria: why it matters.
Mandrile G et al.
Pediatric Nephrology (berlin, Germany), 2023
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Abid A et al.
Clinical Genetics, 2023
Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.
Ge Y et al.
Human Mutation, 2023
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.
Abid A et al.
Human Mutation, 2022
Novel therapeutic approaches for the primary hyperoxalurias.
Belostotsky R et al.
Pediatric Nephrology (berlin, Germany), 2021
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.
Bar R et al.
The Journal of Urology, 2021
Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants.
Abid A
Molecular Biology Reports, 2021
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children.
Fang X et al.
Pediatric Nephrology (berlin, Germany), 2019
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
Primary hyperoxaluria diagnosed after kidney transplantation failure: lesson from 3 case reports and literature review.
Cai R et al.
Bmc Nephrology, 2019
Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population.
Wang W et al.
Kidney & Blood Pressure Research, 2019
Metabolite diagnosis of primary hyperoxaluria type 3.
Greed L et al.
Pediatric Nephrology (berlin, Germany), 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Systematic assessment of urinary hydroxy-oxo-glutarate for diagnosis and follow-up of primary hyperoxaluria type III.
Ventzke A et al.
Pediatric Nephrology (berlin, Germany), 2017
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
M'dimegh S et al.
Journal of Clinical Laboratory Analysis, 2017
Simultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluria.
Clifford-Mobley O et al.
Annals of Clinical Biochemistry, 2016
Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.
MacDonald JR et al.
Febs Letters, 2016
Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.
Hopp K et al.
Journal of the American Society of Nephrology : Jasn, 2015
Renal function can be impaired in children with primary hyperoxaluria type 3.
Allard L et al.
Pediatric Nephrology (berlin, Germany), 2015
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
4-hydroxyglutamate is a biomarker for primary hyperoxaluria type 3.
Pitt JJ et al.
Jimd Reports, 2015
Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3.
Wang X et al.
American Journal of Nephrology, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies.
Beck BB et al.
European Journal of Human Genetics : Ejhg, 2013
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3.
Williams EL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis.
Monico CG et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Belostotsky R et al.
American Journal of Human Genetics, 2010