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

著者: Gnoli, Maria, Brizola, Evelise, Tremosini, Morena, Pedrini, Elena, Maioli, Margherita, Mosca, Massimiliano, Bassotti, Alessandra, Castronovo, Paola, Giunta, Cecilia, Sangiorgi, Luca
出版年 Front Genet (2021)

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

著者: Lintas, Carla, Sacco, Roberto, Tabolacci, Claudio, Brogna, Claudia, Canali, Marco, Picinelli, Chiara, Tomaiuolo, Pasquale, Castronovo, Paola, Baccarin, Marco, Persico, Antonio M.
出版年 Mol Syndromol (2019)

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

著者: Eller-Vainicher, Cristina, Grassi, Giorgia, Chiodini, Iacopo, Cairoli, Elisa, Palmieri, Serena, Franchetti, Sara, Marinelli, Barbara, Castronovo, Paola, Arosio, Maura, Bassotti, Alessandra
出版年 J Endocr Soc (2020)

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

著者: 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
出版事項 2010

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

著者: 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
出版事項 2006

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

著者: 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.
出版年 Mol Genet Genomic Med (2020)