Associated Papers
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Pathogenicity analysis of ATP7B in pediatric patients with Wilson's disease and functional verification of alternative splice variants.
Wang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.
Kumar M et al.
Movement Disorders Clinical Practice, 2025
Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.
Own-Eium P et al.
Journal of Human 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
Role of RNA Alternative Splicing in T Cell Function and Disease.
Banerjee S et al.
Genes, 2023
Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study.
Fan SP et al.
Journal of Movement Disorders, 2023
Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.
Wang Y et al.
Frontiers in Genetics, 2023
Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane.
Xu H et al.
Frontiers in Neurology, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.
Huong NTM et al.
Molecular Genetics and Metabolism Reports, 2022
Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.
Chetruengchai W et al.
Journal of Human Genetics, 2022
Correlation of ATP7B gene mutations with clinical phenotype and radiological features in Indian Wilson disease patients.
Chaudhuri J et al.
Acta Neurologica Belgica, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Clinical and Genetic Analysis in Neurological Wilson's Disease Patients With Neurological Worsening Following Chelator Therapy.
Hou H et al.
Frontiers in Genetics, 2022
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Xiao Z et al.
Molecular Genetics & Genomic Medicine, 2021
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ et al.
Gastroenterology, 2021
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.
Fang Y et al.
Frontiers in Pediatrics, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory.
Poon KS et al.
Journal of Clinical Pathology, 2020
Clinical features and mutational analysis in 114 young children with Wilson disease from South China.
Li X et al.
American Journal of Medical Genetics. Part A, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
Cheng N et al.
Clinical Genetics, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Geographic distribution of ATP7B mutations in Wilson disease.
Gomes A et al.
Annals of Human Biology, 2016
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Dong Y et al.
Theranostics, 2016
Mutational analysis of ATP7B in Chinese Wilson disease patients.
Hua R et al.
American Journal of Translational Research, 2016
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
Zong YN et al.
Genetics and Molecular Research : Gmr, 2015
[A young boy with elevated aminotransferases in physical examination--Two novel missense mutations associated with Wilson's disease were found].
Zhu Y et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
Wei Z et al.
Neuroreport, 2014
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Mukherjee S et al.
Parkinsonism & Related Disorders, 2014
Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.
Geng J et al.
World Journal of Pediatrics : Wjp, 2013
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
Gu S et al.
Plos One, 2013
Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.
Bucossi S et al.
International Journal of Alzheimer's Disease, 2011
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Wan L et al.
Hepatology (baltimore, Md.), 2010
Clinical features and therapeutic response in Taiwanese children with Wilson's disease: 12 years of experience in a single center.
Wang LC et al.
Pediatrics and Neonatology, 2010
Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.
Mak CM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
[Mutation screening and prenatal diagnosis of Wilson's disease by denature high performance liquid chromatography].
Du J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
Gojová L et al.
Clinical Genetics, 2008
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
Mak CM et al.
Journal of Human Genetics, 2008
Diagnosis of Wilson's disease: a comprehensive review.
Mak CM et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
Gupta A et al.
Cellular and Molecular Neurobiology, 2007
Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.
Gupta A et al.
Clinical Chemistry, 2007
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.
Gupta A et al.
Human Genetics, 2005
Six novel ATP7B mutations in Thai patients with Wilson disease.
Panichareon B et al.
European Journal of Medical Genetics, 0
Unusual neuromuscular presentation of a Wilson's disease patient with one-stage surgical correction treatment: A case report.
Lin YC et al.
Journal of Orthopaedic Surgery (hong Kong), 0
Nuances in ATP7B Genetic Testing and Interpretation in India.
Mishra AK et al.
Journal of Clinical and Experimental Hepatology, 0
Non-coding RNAs in Wilson's Disease: Plausible drivers of hepatic symptom heterogeneity.
Sarkar N et al.
Mutation Research. Reviews in Mutation Research, 0