Mosaic Segmental and Whole-Chromosome upd(11)mat in Silver-Russell Syndrome

by Laura Pignata, Angela Sparago, Orazio Palumbo, Elena Andreucci, Elisabetta Lapi, Romano Tenconi, Massimo Carella, Andrea Riccio, Flavia Cerrato
Published 2021-04-01

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

by Paolo Grazioli, Chiara Parodi, Milena Mariani, Daniele Bottai, Elisabetta Di Fede, Aida Zulueta, Laura Avagliano, Anna Cereda, Romano Tenconi, Jolanta Wierzba, Raffaella Adami, Maria Iascone, Paola Francesca Ajmone, Thomas Vaccari, Cristina Gervasini, Angelo Selicorni, Valentina Massa
Published 2021-02-01

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sen...

by Daria C Loconte, Valentina Grossi, Cristina Bozzao, Giovanna Forte, Rosanna Bagnulo, Alessandro Stella, Patrizia Lastella, Mario Cutrone, Francesco Benedicenti, Francesco C Susca, Margherita Patruno, Dora Varvara, Aldo Germani, Luciana Chessa, Nicola Laforgia, Romano Tenconi, Cristiano Simone, Nicoletta Resta
Published 2015-01-01

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

by Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini
Published 2021-01-01