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

Por Lintas, Carla, Sacco, Roberto, Tabolacci, Claudio, Brogna, Claudia, Canali, Marco, Picinelli, Chiara, Tomaiuolo, Pasquale, Castronovo, Paola, Baccarin, Marco, Persico, Antonio M.
Publicado no Mol Syndromol (2019)

SUN-362 Bone Involvement in Adult Patients Affected with Ehlers-Danlos Syndromes

Por Eller-Vainicher, Cristina, Grassi, Giorgia, Chiodini, Iacopo, Cairoli, Elisa, Palmieri, Serena, Franchetti, Sara, Marinelli, Barbara, Castronovo, Paola, Arosio, Maura, Bassotti, Alessandra
Publicado no J Endocr Soc (2020)

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Por Gervasini, Cristina, Mottadelli, Federica, Ciccone, Roberto, Castronovo, Paola, Milani, Donatella, Scarano, Gioacchino, Bedeschi, Maria Francesca, Belli, Serena, Pilotta, Alba, Selicorni, Angelo, Zuffardi, Orsetta, Larizza, Lidia
Publicado em 2010

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

Por Bentivegna, Angela, Milani, Donatella, Gervasini, Cristina, Castronovo, Paola, Mottadelli, Federica, Manzini, Stefano, Colapietro, Patrizia, Giordano, Lucio, Atzeri, Francesca, Divizia, Maria T, Uzielli, Maria L Giovannucci, Neri, Giovanni, Bedeschi, Maria F, Faravelli, Francesca, Selicorni, Angelo, Larizza, Lidia
Publicado em 2006

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

Por 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.
Publicado no Mol Genet Genomic Med (2020)