COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

מאת Gnoli, Maria, Brizola, Evelise, Tremosini, Morena, Pedrini, Elena, Maioli, Margherita, Mosca, Massimiliano, Bassotti, Alessandra, Castronovo, Paola, Giunta, Cecilia, Sangiorgi, Luca
הוצא לאור ב Front Genet (2021)

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

מאת Lintas, Carla, Sacco, Roberto, Tabolacci, Claudio, Brogna, Claudia, Canali, Marco, Picinelli, Chiara, Tomaiuolo, Pasquale, Castronovo, Paola, Baccarin, Marco, Persico, Antonio M.
הוצא לאור ב Mol Syndromol (2019)

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

מאת Eller-Vainicher, Cristina, Grassi, Giorgia, Chiodini, Iacopo, Cairoli, Elisa, Palmieri, Serena, Franchetti, Sara, Marinelli, Barbara, Castronovo, Paola, Arosio, Maura, Bassotti, Alessandra
הוצא לאור ב J Endocr Soc (2020)

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

מאת 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
יצא לאור 2010

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

מאת 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
יצא לאור 2006

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

מאת 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.
הוצא לאור ב Mol Genet Genomic Med (2020)