Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

by Salsano, Ettore, Tabano, Silvia, Sirchia, Silvia M, Colapietro, Patrizia, Castellotti, Barbara, Gellera, Cinzia, Rimoldi, Marco, Pensato, Viviana, Mariotti, Caterina, Pareyson, Davide, Miozzo, Monica, Uziel, Graziella
Published 2012

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

by Paganini, Leda, Carlessi, Nicole, Fontana, Laura, Silipigni, Rosamaria, Motta, Silvia, Fiori, Stefano, Guerneri, Silvana, Lalatta, Faustina, Cereda, Anna, Sirchia, Silvia, Miozzo, Monica, Tabano, Silvia
Published 2015

TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage-independent survival

by Lesma, Elena, Ancona, Silvia, Sirchia, Silvia M, Orpianesi, Emanuela, Grande, Vera, Colapietro, Patrizia, Chiaramonte, Eloisa, Di Giulio, Anna Maria, Gorio, Alfredo
Published 2014

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological ph...

by Finelli, Palma, Sirchia, Silvia Maria, Masciadri, Maura, Crippa, Milena, Recalcati, Maria Paola, Rusconi, Daniela, Giardino, Daniela, Monti, Laura, Cogliati, Francesca, Faravelli, Francesca, Natacci, Federica, Zoccante, Leonardo, Bernardina, Bernardo Dalla, Russo, Silvia, Larizza, Lidia
Published 2012

Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

by Calvello, Mariarosaria, Tabano, Silvia, Colapietro, Patrizia, Maitz, Silvia, Pansa, Alessandra, Augello, Claudia, Lalatta, Faustina, Gentilin, Barbara, Spreafico, Filippo, Calzari, Luciano, Perotti, Daniela, Larizza, Lidia, Russo, Silvia, Selicorni, Angelo, Sirchia, Silvia M, Miozzo, Monica
Published 2013

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

by Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia
Published 2016

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

by Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia
Published 2016