Associated Papers
Clinical burden, genetic heterogeneity, and diagnostic implications in primary hyperoxaluria type 2.
Hashmi S et al.
Pediatric Nephrology (berlin, Germany), 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report.
Song C et al.
Ophthalmic Genetics, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 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
Clinical features and mutational spectrum of Chinese patients with primary hyperoxaluria type 2.
Liu Y et al.
Urolithiasis, 2024
Clinical characteristics, genetic profile and short-term outcomes of children with primary hyperoxaluria type 2: a nationwide experience.
Krishnasamy S et al.
Pediatric Nephrology (berlin, Germany), 2024
Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening.
To-Mai XH et al.
Scientific Reports, 2024
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.
Jung J et al.
Clinical Genetics, 2023
Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients.
Xin Q et al.
Frontiers in Genetics, 2023
Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype-phenotype correlations in Chinese Han children with urolithiasis.
Wang Z et al.
Frontiers in Genetics, 2023
Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.
Ge Y et al.
Human Mutation, 2023
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG et al.
Kidney International Reports, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones.
He L et al.
World Journal of Urology, 2019
Primary hyperoxaluria diagnosed after kidney transplantation failure: lesson from 3 case reports and literature review.
Cai R et al.
Bmc Nephrology, 2019
Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.
Takayama T et al.
Clinical Genetics, 2014
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.
Takayama T et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2007
[Direct sequencing and analysis of exons of Wilson' disease gene with the most mutations: a study in Hunan Han patients].
Luo KZ et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2006
Genomics Integration Into Nephrology Practice.
Pinto E Vairo F et al.
Kidney Medicine, 0