Associated Papers
Use of Estonian Biobank data and participant recall to improve Wilson's disease management.
Nurm M et al.
European Journal of Human Genetics : Ejhg, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease.
Al-Obaidi RGY et al.
Sultan Qaboos University Medical Journal, 2025
The mutation spectrum and ethnic distribution of Wilson disease, a review.
Beyzaei Z et al.
Molecular Genetics and Metabolism Reports, 2024
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T et al.
Jama Network Open, 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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.
Jia S et al.
Journal of Clinical Laboratory Analysis, 2022
The pathophysiology of Wilson's disease visualized: A human 64 Cu PET study.
Sandahl TD et al.
Hepatology (baltimore, Md.), 2022
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.
Huong NTM et al.
Molecular Genetics and Metabolism Reports, 2022
A rare giant intracranial arachnoid cyst confused the diagnosis and treatment of Wilson disease.
Wenbin Z et al.
Translational Neuroscience, 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
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Xiao Z et al.
Molecular Genetics & Genomic Medicine, 2021
Hypopituitarism in Wilson's disease resolved after copper-chelating therapy.
Dauth N et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.
Kuo CW et al.
Molecular Genetics & Genomic Medicine, 2020
Management of Wilson Disease Diagnosed in Infancy: An Appraisal of Available Experience to Generate Discussion.
Valentino PL et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
Shim JO et al.
Journal of Korean Medical Science, 2018
Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
Tuan Pham LA et al.
Journal of Genetics, 2017
Clinical features and outcome in patients with osseomuscular type of Wilson's disease.
Yu H et al.
Bmc Neurology, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review.
Zhang QJ et al.
Medicine, 2016
Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.
Zhang DF et al.
Genetics and Molecular Research : Gmr, 2016
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
Poon KS et al.
Clinical Biochemistry, 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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
P-coumaric acid regulates exon 12 splicing of the ATP7B gene by modulating hnRNP A1 protein expressions.
Lin YJ et al.
Biomedicine, 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
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Squitti R et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2014
Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study.
Abuduxikuer K et al.
Plos One, 2014
Zinc monotherapy and a low-copper diet are beneficial in patients with Wilson disease after liver transplantation.
Ni W et al.
Cns Neuroscience & Therapeutics, 2013
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
Simsek Papur O et al.
European Journal of Medical Genetics, 2013
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
Li K et al.
Journal of Human Genetics, 2013
Clinical presentation and mutations in Danish patients with Wilson disease.
Møller LB et al.
European Journal of Human Genetics : Ejhg, 2011
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
Wang LH et al.
Journal of Human Genetics, 2011
Clinical molecular diagnosis of Wilson disease.
Bennett J et al.
Seminars in Liver 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