Primary TSC2(-/meth) Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model

por Bernardelli, Clara, Chiaramonte, Eloisa, Ancona, Silvia, Sirchia, Silvia M., Cerri, Amilcare, Lesma, Elena
Publicado 2022

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

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

Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients

por Rovina, Davide, La Vecchia, Marta, Cortesi, Alice, Fontana, Laura, Pesant, Matthieu, Maitz, Silvia, Tabano, Silvia, Bodega, Beatrice, Miozzo, Monica, Sirchia, Silvia M.
Publicado 2020

Misbehaviour of XIST RNA in Breast Cancer Cells

por Sirchia, Silvia M., Tabano, Silvia, Monti, Laura, Recalcati, Maria P., Gariboldi, Manuela, Grati, Francesca R., Porta, Giovanni, Finelli, Palma, Radice, Paolo, Miozzo, Monica
Publicado 2009

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

por 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
Publicado 2012

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

por Bedeschi, Maria Francesca, Calvello, Mariarosaria, Paganini, Leda, Pezzani, Lidia, Baccarin, Marco, Fontana, Laura, Sirchia, Silvia M., Guerneri, Silvana, Canazza, Lorena, Leva, Ernesto, Colombo, Lorenzo, Lalatta, Faustina, Mosca, Fabio, Tabano, Silvia, Miozzo, Monica
Publicado 2017

(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome

por Fontana, Laura, Bedeschi, Maria F., Cagnoli, Giulia A., Costanza, Jole, Persico, Nicola, Gangi, Silvana, Porro, Matteo, Ajmone, Paola F., Colapietro, Patrizia, Santaniello, Carlo, Crippa, Milena, Sirchia, Silvia M., Miozzo, Monica, Tabano, Silvia
Publicado 2020

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

por 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
Publicado 2013

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

por Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D’Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M., Tabano, S.
Publicado 2018

A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins

por Paganini, Leda, Hadi, Loubna A., Chetta, Massimiliano, Rovina, Davide, Fontana, Laura, Colapietro, Patrizia, Bonaparte, Eleonora, Pezzani, Lidia, Marchisio, Paola, Tabano, Silvia M., Costanza, Jole, Sirchia, Silvia M., Riboni, Laura, Milani, Donatella, Miozzo, Monica
Publicado 2018

DNA Methylation in the Diagnosis of Monogenic Diseases

por Cerrato, Flavia, Sparago, Angela, Ariani, Francesca, Brugnoletti, Fulvia, Calzari, Luciano, Coppedè, Fabio, De Luca, Alessandro, Gervasini, Cristina, Giardina, Emiliano, Gurrieri, Fiorella, Lo Nigro, Cristiana, Merla, Giuseppe, Miozzo, Monica, Russo, Silvia, Sangiorgi, Eugenio, Sirchia, Silvia M, Squeo, Gabriella Maria, Tabano, Silvia, Tabolacci, Elisabetta, Torrente, Isabella, Genuardi, Maurizio, Neri, Giovanni, Riccio, Andrea
Publicado 2020