Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
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
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 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
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Wilson's Disease-Crossroads of Genetics, Inflammation and Immunity/Autoimmunity: Clinical and Molecular Issues.
Gromadzka G et al.
International Journal of Molecular Sciences, 2024
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.
Lao TD et al.
Biomarker Insights, 2024
Wilson's Disease-Genetic Puzzles with Diagnostic Implications.
Gromadzka G et al.
Diagnostics (basel, Switzerland), 2023
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
[Acute hemolysis crisis revealed a Wilson disease].
Feugray G et al.
Annales De Biologie Clinique, 2020
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Kluska A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2019
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
Liu G et al.
Bmc Medical Genetics, 2018
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
Clinical and genetic analysis of pediatric patients with Wilson disease.
Şimşek Papur Ö et al.
The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2015
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
Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.
Seo JK
Pediatric Gastroenterology, Hepatology & Nutrition, 2012
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
Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.
Zali N et al.
Hepatitis Monthly, 2011
Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
Abdel Ghaffar TY et al.
Bmc Pediatrics, 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
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
Weiss KH et al.
Journal of Inherited Metabolic Disease, 2010
Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease.
Nicastro E et al.
Hepatology (baltimore, Md.), 2010
Genotype-phenotype correlation in Italian children with Wilson's disease.
Nicastro E et al.
Journal of Hepatology, 2009
Wilson disease in children: analysis of 57 cases.
Manolaki N et al.
Journal of Pediatric Gastroenterology and Nutrition, 2009
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 ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.
Abdelghaffar TY et al.
Journal of Human Genetics, 2008
Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.
Leggio L et al.
Digestive Diseases and Sciences, 2007
Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.
Gupta A et al.
Clinical Chemistry, 2007
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
Lepori MB et al.
Genetic Testing, 2007
A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia.
Leggio L et al.
Digestive Diseases and Sciences, 2006
Direct diagnosis of Wilson disease by molecular genetics.
Caprai S et al.
The Journal of Pediatrics, 2006
Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.
Gromadzka G et al.
Clinical Genetics, 2005
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
Panagiotakaki E et al.
American Journal of Medical Genetics. Part A, 2004
Molecular diagnosis of Wilson disease.
Butler P et al.
Molecular Genetics and Metabolism, 2001
Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
Loudianos G et al.
Genetic Testing, 2000
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
Loudianos G et al.
Journal of Medical Genetics, 1999
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Loudianos G et al.
Human Mutation, 1998
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
Vrabelova S et al.
Molecular Genetics and Metabolism, 0
R778L, H1069Q, and I1102T mutation study in neurologic Wilson disease.
Kalita J et al.
Neurology India, 0
Haplotype and mutation analysis in Greek patients with Wilson disease.
Loudianos G et al.
European Journal of Human Genetics : Ejhg, 0