Associated Papers
WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.
Kafantari E et al.
Genes, 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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.
Choi W et al.
Cells, 2024
Phenotype and molecular characterization of Wilson's disease in Morocco.
Abbassi N et al.
Clinics and Research in Hepatology and Gastroenterology, 2024
ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.
Gorukmez O et al.
Fetal and Pediatric Pathology, 2023
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.
Lafhal K et al.
Molecular Genetics and Metabolism Reports, 2023
Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease.
Sipilä JOT et al.
Journal of the Neurological Sciences, 2023
Wilson's Disease-Genetic Puzzles with Diagnostic Implications.
Gromadzka G et al.
Diagnostics (basel, Switzerland), 2023
Epidemiology and introduction to the clinical presentation of Wilson disease.
Lo C et al.
Handbook of Clinical Neurology, 2017
Clinical molecular diagnosis of Wilson disease.
Bennett J et al.
Seminars in Liver Disease, 2011
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
Diagnosis of Wilson's disease: a comprehensive review.
Mak CM et al.
Critical Reviews in Clinical Laboratory Sciences, 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
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
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
Wilson disease: high prevalence in a mountainous area of Crete.
Dedoussis GV et al.
Annals of Human 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
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
Haplotype and mutation analysis in Greek patients with Wilson disease.
Loudianos G et al.
European Journal of Human Genetics : Ejhg, 0