High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs

Antonietta Zappu, Magli Olympia, Maria Barbara Lepori, +10

Journal of Pediatric Gastroenterology and Nutrition

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population

Alessandro Gialluisi, Simona Incollu, Tommaso Pippucci, +4

European Journal of Human Genetics

Allelic VariantHaplotype DeterminationGenotype-phenotype AssociationMolecular EcologyMedicine +11

The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease

Mario Lovicu, Valeria Dessì, Maria Barbara Lepori, +19

Journal of Gastroenterology

Bioactive MetalGeneticsPathogenesisMetalloproteinPathology +2

Twenty-Four Novel Mutations in Wilson Disease Patients of Predominantly Italian Origin

Maria Barbara Lepori, Mario Lovicu, Valentina Dessì, +16

Genetic Testing

GeneticsPathologyMolecular BiologyDisease Gene IdentificationGenomics +14

Wilson's disease caused by alternative splicing and Alu exonization due to a homozygous 3039-bp deletion spanning from intron 1 to exon 2 of the ATP7B gene

Eva Mameli, Maria Barbara Lepori, Francesca Chiappe, +4

Gene

Alu ExonizationGenetic DisorderNatural SciencesGeneticsPathogenesis +10

RNA Analysis of Consensus Sequence Splicing Mutations: Implications for the Diagnosis of Wilson Disease

Mario Lovicu, Maria Barbara Lepori, Simona Incollu, +10

Genetic Testing and Molecular Biomarkers

Rna AnalysisFunctional GenomicsMendelian DisorderGenetic DisorderMedicine +13

Wilson's disease in two consecutive generations: The detection of three mutated alleles in the ATP7B gene in two Sardinian families

Georgios Loudianos, Antonietta Zappu, Maria Barbara Lepori, +6

Digestive and Liver Disease

Allelic VariantMendelian DisorderGenetic DisorderGeneticsMolecular Biology +9

Analysis of the T1288R Mutation of the Wilson Disease ATP7B Gene in Four Generations of a Family: Possible Genotype-Phenotype Correlation with Hepatic Onset

Lorenzo Leggio, Noemi Malandrino, Georgios Loudianos, +5

Digestive Diseases and Sciences

Mendelian DisorderHepatologyGenetic DisorderGeneticsInherited Metabolic Disease +10

Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism.

Georgios Loudianos, Simona Incollu, Eva Mameli, +1

PubMed

Genetic TestingFamily MembersGeneticsDiagnosisPathology +14

Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features

Georgios Loudianos, Antonietta Zappu, Maria Barbara Lepori, +4

Journal of Pediatric Gastroenterology and Nutrition

Liver FibrosisImmunologyPathologyCirrhosisAutoimmune Liver Disease +20