Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
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
Genetic etiological spectrum of sperm morphological abnormalities.
Arora M et al.
Journal of Assisted Reproduction and Genetics, 2024
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
39131880 (PubMed )
Supplement: Supplementary_material-Suppl.1-s1.pdf
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Chetruengchai W et al.
Bmc Medical Genomics, 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
Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.
Wu J et al.
Urolithiasis, 2023
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Metry EL et al.
Kidney International Reports, 2023
37849991 (PubMed )
Supplement: mmc1.pdf
Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients.
Xin Q et al.
Frontiers in Genetics, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Clinical analysis of 13 children with primary hyperoxaluria type 1.
Lin JA et al.
Urolithiasis, 2021
A comprehensive and universal approach for embryo testing in patients with different genetic disorders.
Zhang S et al.
Clinical and Translational Medicine, 2021
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh K et al.
Bmc Medical Genetics, 2020
Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.
Lu X et al.
Frontiers in Pharmacology, 2019
Mutational analysis of AGXT in two Chinese families with primary hyperoxaluria type 1.
Li GM et al.
Bmc Nephrology, 2014
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
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