Search Results - "Saporoso, Antonino"

Diagnostic Targeted Resequencing in 349 Patients with Drug‐Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes by Parrini, Elena, Marini, Carla, Mei, Davide, Galuppi, Anna, Cellini, Elena, Pucatti, Daniela, Chiti, Laura, Rutigliano, Domenico, Bianchini, Claudia, Virdò, Simona, Vita, Dalila, Bigoni, Stefania, Barba, Carmen, Mari, Francesco, Montomoli, Martino, Pisano, Tiziana, Rosati, Anna, Guerrini, Renzo

“…ABSTRACT Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a…”
Get full text

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform by Calì, Francesco, Chiavetta, Valeria, Ruggeri, Giuseppa, Piccione, Maria, Selicorni, Angelo, Palazzo, Daniela, Bonsignore, Maria, Cereda, Anna, Elia, Maurizio, Failla, Pinella, Figura, Maria Grazia, Fiumara, Agata, Maitz, Silvia, Luana Mandarà, Giuseppa Maria, Mattina, Teresa, Ragalmuto, Alda, Romano, Corrado, Ruggieri, Martino, Salluzzo, Roberto, Saporoso, Antonino, Schepis, Carmelo, Sorge, Giovanni, Spanò, Maria, Tortorella, Gaetano, Romano, Valentino

“…Abstract Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient…”
Get full text