High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs
Antonietta, Zappu, Olympia, Magli, Lepori, Maria Barbara, Valentina, Dessì, Stefania, Diana, Simona, Incollu, Emmanuel, Kanavakis, Polyxeni, Nicolaidou, Nina, Manolaki, Andreas, Fretzayas, Stefano, De Virgiliis, Antonio, Cao, Georgios, Loudianos
Published in Journal of pediatric gastroenterology and nutrition (01.09.2008)
Published in Journal of pediatric gastroenterology and nutrition (01.09.2008)
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The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population
Gialluisi, Alessandro, Incollu, Simona, Pippucci, Tommaso, Lepori, Maria Barbara, Zappu, Antonietta, Loudianos, Georgios, Romeo, Giovanni
Published in European journal of human genetics : EJHG (01.11.2013)
Published in European journal of human genetics : EJHG (01.11.2013)
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Erratum: The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population
Gialluisi, Alessandro, Incollu, Simona, Pippucci, Tommaso, Barbara Lepori, Maria, Zappu, Antonietta, Loudianos, Georgios, Romeo, Giovanni
Published in European journal of human genetics : EJHG (16.01.2014)
Published in European journal of human genetics : EJHG (16.01.2014)
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The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population
Gialluisi, Alessandro, Incollu, Simona, Pippucci, Tommaso, Barbara Lepori, Maria, Zappu, Antonietta, Loudianos, Georgios, Romeo, Giovanni
Published in European journal of human genetics : EJHG (01.02.2014)
Published in European journal of human genetics : EJHG (01.02.2014)
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Wilson's disease in two consecutive generations: The detection of three mutated alleles in the ATP7B gene in two Sardinian families
Loudianos, Georgios, Zappu, Antonietta, Lepori, Maria Barbara, Incollu, Simona, Dessì, Valentina, Mameli, Eva, Garrucciu, Giovanni, De Virgiliis, Stefano, Cao, Antonio
Published in Digestive and liver disease (01.04.2013)
Published in Digestive and liver disease (01.04.2013)
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Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis
Lepori, Maria-Barbara, Zappu, Antonietta, Incollu, Simona, Dessì, Valentina, Mameli, Eva, Demelia, Luigi, Nurchi, Anna Maria, Gheorghe, Liana, Maggiore, Giuseppe, Sciveres, Marco, Leuzzi, Vincenzo, Indolfi, Giuseppe, Bonafé, Luisa, Casali, Carlo, Angeli, Paolo, Barone, Patrizia, Cao, Antonio, Loudianos, Georgios
Published in Molecular and cellular probes (01.08.2012)
Published in Molecular and cellular probes (01.08.2012)
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DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient
Incollu, Simona, Lepori, Maria Barbara, Zappu, Antonietta, Dessì, Valentina, Noli, Maria Cristina, Mameli, Eva, Iorio, Raffaele, Ranucci, Giusy, Cao, Antonio, Loudianos, Georgios
Published in Molecular and cellular probes (01.10.2011)
Published in Molecular and cellular probes (01.10.2011)
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Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening
Zappu, Antonietta, Lepori, Maria Barbara, Incollu, Simona, Noli, Maria Cristina, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios
Published in Molecular and cellular probes (01.08.2010)
Published in Molecular and cellular probes (01.08.2010)
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Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report
Zappu, Antonietta, Lepori, Maria Barbara, Incollu, Simona, Dessì, Valentina, Noli, Maria Cristina, Mameli, Eva, Bonafé, Luisa, Garcia Dépraz, Nuria, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios
Published in Molecular and cellular probes (01.04.2012)
Published in Molecular and cellular probes (01.04.2012)
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DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH sub(2-terminal region of the ATP7B gene in a Wilson disease patient)
Incollu, Simona, Lepori, Maria Barbara, Zappu, Antonietta, Dessi, Valentina, Noli, Maria Cristina, Mameli, Eva, Iorio, Raffaele, Ranucci, Giusy, Cao, Antonio, Loudianos, Georgios
Published in Molecular and cellular probes (01.12.2011)
Published in Molecular and cellular probes (01.12.2011)
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DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH 2-terminal region of the ATP7B gene in a Wilson disease patient
Incollu, Simona, Lepori, Maria Barbara, Zappu, Antonietta, Dessì, Valentina, Noli, Maria Cristina, Mameli, Eva, Iorio, Raffaele, Ranucci, Giusy, Cao, Antonio, Loudianos, Georgios
Published in Molecular and cellular probes (2011)
Published in Molecular and cellular probes (2011)
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Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin
Lepori, Maria Barbara, Lovicu, Mario, Dessi, Valentina, Zappu, Antonietta, Incollu, Simona, Zancan, Lucia, Giacchino, Raffaella, Iorio, Raffaele, Vajro, Pietro, Maggiore, Giuseppe, Marcellini, Matilde, Barbera, Cristiana, Pellecchia, Maria Teresa, Simonetti, Rosanna, Kostic, Vladimir, Farci, Anna Maria Giulia, Solinas, Antonello, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios
Published in Genetic testing (01.09.2007)
Published in Genetic testing (01.09.2007)
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RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease
Lovicu, Mario, Lepori, Maria Barbara, Incollu, Simona, Dessì, Valentina, Zappu, Antonietta, Iorio, Raffaele, D'Ambrosi, Mariangela, Pellecchia, Maria Teresa, Barone, Paolo, Maggiore, Giuseppe, De Virgiliis, Stefano, Cao, Antonio, Loudianos, Georgios
Published in Genetic testing and molecular biomarkers (01.04.2009)
Published in Genetic testing and molecular biomarkers (01.04.2009)
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