Associated Papers
Molecular Characterization of Wilson's Disease in Liver Transplant Patients: A Five-Year Single-Center Experience in Iran.
Beyzaei Z et al.
Diagnostics (basel, Switzerland), 2025
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Re-evaluation of King Wilson Index in Children With Acutely Decompensated Hepatic Wilson Disease.
Chanpong A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.
Martone S 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.
Lerario AM et al.
Clinics (sao Paulo, Brazil), 2020
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Activation of Autophagy, Observed in Liver Tissues From Patients With Wilson Disease and From ATP7B-Deficient Animals, Protects Hepatocytes From Copper-Induced Apoptosis.
Polishchuk EV et al.
Gastroenterology, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 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
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
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
Gu S et al.
Plos One, 2013
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Lepori MB et al.
Molecular and Cellular Probes, 2012
Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.
Amson M et al.
Canadian Journal of Gastroenterology = Journal Canadien De Gastroenterologie, 2012
Diverse functional properties of Wilson disease ATP7B variants.
Huster D et al.
Gastroenterology, 2012
Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.
Zali N et al.
Hepatitis Monthly, 2011
Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.
Bruha R et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2011
Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease.
Nicastro E et al.
Hepatology (baltimore, Md.), 2010
Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.
Folhoffer A et al.
European Journal of Gastroenterology & Hepatology, 2007
[ATP7B gene mutations in Hungarian patients with Wilson disease--case reports to illustrate the diverse clinical presentations].
Folhoffer A et al.
Orvosi Hetilap, 2003
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Loudianos G et al.
Human Mutation, 1998