Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features

le Lintas, Carla, Picinelli, Chiara, Piras, Ignazio S., Sacco, Roberto, Gabriele, Stefano, Verdecchia, Magda, Persico, Antonio M.
Foilsithe in Mol Syndromol (2016)

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

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

An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient

le Lintas, Carla, Sacco, Roberto, Tabolacci, Claudio, Brogna, Claudia, Canali, Marco, Picinelli, Chiara, Tomaiuolo, Pasquale, Castronovo, Paola, Baccarin, Marco, Persico, Antonio M.
Foilsithe in Mol Syndromol (2019)

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls

le Parenti, Ilaria, Rovina, Davide, Masciadri, Maura, Cereda, Anna, Azzollini, Jacopo, Picinelli, Chiara, Limongelli, Giuseppe, Finelli, Palma, Selicorni, Angelo, Russo, Silvia, Gervasini, Cristina, Larizza, Lidia
Foilsithe 2014

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

le 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
Foilsithe 2013

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

le 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
Foilsithe in Sci Rep (2015)

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

le Crippa, Milena, Bonati, Maria Teresa, Calzari, Luciano, Picinelli, Chiara, Gervasini, Cristina, Sironi, Alessandra, Bestetti, Ilaria, Guzzetti, Sara, Bellone, Simonetta, Selicorni, Angelo, Mussa, Alessandro, Riccio, Andrea, Ferrero, Giovanni Battista, Russo, Silvia, Larizza, Lidia, Finelli, Palma
Foilsithe in Front Genet (2019)

FARP‐1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family

le Cucinotta, Francesca, Ricciardello, Arianna, Turriziani, Laura, Calabrese, Giorgia, Briguglio, Marilena, Boncoddo, Maria, Bellomo, Fabiana, Tomaiuolo, Pasquale, Martines, Silvia, Bruschetta, Marianna, La Fauci Belponer, Francesca, Di Bella, Tiziana, Colombi, Costanza, Baccarin, Marco, Picinelli, Chiara, Castronovo, Paola, Lintas, Carla, Sacco, Roberto, Biederer, Thomas, Kellam, Barbara, Scherer, Stephen W., Persico, Antonio M.
Foilsithe in Mol Genet Genomic Med (2020)