Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome

por Castronovo, Paola, Aleo, Sebastiano, Seresini, Agostino, Grilli, Federico, Brunati, Emilio, Marchisio, Paola, Guez, Sophie, Milani, Donatella
Publicado 2022

Yield of array‐CGH analysis in Tunisian children with autism spectrum disorder

por Chehbani, Fethia, Tomaiuolo, Pasquale, Picinelli, Chiara, Baccarin, Marco, Castronovo, Paola, Scattoni, Maria Luisa, Gaddour, Naoufel, Persico, Antonio M.
Publicado 2022

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

por Gnoli, Maria, Brizola, Evelise, Tremosini, Morena, Pedrini, Elena, Maioli, Margherita, Mosca, Massimiliano, Bassotti, Alessandra, Castronovo, Paola, Giunta, Cecilia, Sangiorgi, Luca
Publicado 2021

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 2020

Diagnostic yield and clinical impact of chromosomal microarray analysis in autism spectrum disorder

por Cucinotta, Francesca, Lintas, Carla, Tomaiuolo, Pasquale, Baccarin, Marco, Picinelli, Chiara, Castronovo, Paola, Sacco, Roberto, Piras, Ignazio Stefano, Turriziani, Laura, Ricciardello, Arianna, Scattoni, Maria Luisa, Persico, Antonio M.
Publicado 2023

RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder

por Tomaiuolo, Pasquale, Piras, Ignazio Stefano, Sain, Simona Baghai, Picinelli, Chiara, Baccarin, Marco, Castronovo, Paola, Morelli, Marco J., Lazarevic, Dejan, Scattoni, Maria Luisa, Tonon, Giovanni, Persico, Antonio M.
Publicado 2023

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 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 2020