Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

by Gervasini, Cristina, Picinelli, Chiara, Azzollini, Jacopo, Rusconi, Daniela, Masciadri, Maura, Cereda, Anna, Marzocchi, Cinzia, Zampino, Giuseppe, Selicorni, Angelo, Tenconi, Romano, Russo, Silvia, Larizza, Lidia, Finelli, Palma
Published 2013

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

by Crippa, Milena, Bestetti, Ilaria, Perotti, Mario, Castronovo, Chiara, Tabano, Silvia, Picinelli, Chiara, Grassi, Guido, Larizza, Lidia, Pincelli, Angela Ida, Finelli, Palma
Published 2014

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

by Roversi, Gaia, Picinelli, Chiara, Bestetti, Ilaria, Crippa, Milena, Perotti, Daniela, Ciceri, Sara, Saccheri, Fabiana, Collini, Paola, Poliani, Pietro L., Catania, Serena, Peissel, Bernard, Pagni, Fabio, Russo, Silvia, Peterlongo, Paolo, Manoukian, Siranoush, Finelli, Palma
Published 2015