Genetic analysis of genes associated with epilepsy

por Guerri, Giulia, Castori, Marco, D’Agruma, Leonardo, Petracca, Antonio, Kurti, Danjela, Bertelli, Matteo
Publicado 2020

A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma

por De Luise, Monica, Guarnieri, Vito, Ceccarelli, Claudio, D'Agruma, Leonardo, Porcelli, Anna Maria, Gasparre, Giuseppe
Publicado 2019

VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line

por Micale, Lucia, Muscarella, Lucia Anna, Marzulli, Marco, Augello, Bartolomeo, Tritto, Patrizia, D'Agruma, Leonardo, Zelante, Leopoldo, Palumbo, Gioacchino, Merla, Giuseppe
Publicado 2009

Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR

por Muscarella, Lucia Anna, Guarnieri, Vito, Coco, Michelina, Belli, Serena, Parrella, Paola, Pulcrano, Giuseppe, Catapano, Domenico, D'Angelo, Vincenzo A., Zelante, Leopoldo, D'Agruma, Leonardo
Publicado 2010

Candidate gene study of HOXB1 in autism spectrum disorder

por Muscarella, Lucia A, Guarnieri, Vito, Sacco, Roberto, Curatolo, Paolo, Manzi, Barbara, Alessandrelli, Riccardo, Giana, Grazia, Militerni, Roberto, Bravaccio, Carmela, Lenti, Carlo, Saccani, Monica, Schneider, Cindy, Melmed, Raun, D'Agruma, Leonardo, Persico, Antonio M
Publicado 2010

Novel association of MEN1 gene mutations with parathyroid carcinoma

por Cinque, Luigia, Sparaneo, Angelo, Cetani, Filomena, Coco, Michelina, Clemente, Celeste, Chetta, Massimiliano, Balsamo, Teresa, Battista, Claudia, Sanpaolo, Eliana, Pardi, Elena, D'Agruma, Leonardo, Marcocci, Claudio, Maiello, Evaristo, Hendy, Geoffrey N., Cole, David E.C., Scillitani, Alfredo, Guarnieri, Vito
Publicado 2017

Complications related to in vitro reproductive techniques support the implementation of natural procreative technologies

por Kiani, Aysha Karim, Paolacci, Stefano, Scanzano, Pietro, Michelini, Sandro, Capodicasa, Natale, D’Agruma, Leonardo, Notarangelo, Angelantonio, Tonini, Gerolamo, Piccinelli, Daniela, Farshid, Kalantary Rad, Petralia, Paolo, Fulcheri, Ezio, Chiurazzi, Pietro, Terranova, Corrado, Plotti, Francesco, Angioli, Roberto, Castori, Marco, Bertelli, Matteo
Publicado 2020

Prenatal genetic diagnosis: fetal therapy as a possible solution to a positive test

por Kiani, Aysha Karim, Paolacci, Stefano, Scanzano, Pietro, Michelini, Sandro, Capodicasa, Natale, D’Agruma, Leonardo, Notarangelo, Angelantonio, Tonini, Gerolamo, Piccinelli, Daniela, Farshid, Kalantary Rad, Petralia, Paolo, Fulcheri, Ezio, Buffelli, Francesca, Chiurazzi, Pietro, Terranova, Corrado, Plotti, Francesco, Angioli, Roberto, Castori, Marco, Pös, Ondrej, Szemes, Tomas, Bertelli, Matteo
Publicado 2020

Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

por Pazienza, Valerio, la Torre, Annamaria, Baorda, Filomena, Alfarano, Michela, Chetta, Massimiliano, Muscarella, Lucia Anna, Battista, Claudia, Copetti, Massimiliano, Kotzot, Dieter, Kapelari, Klaus, Al-Abdulrazzaq, Dalia, Perlman, Kusiel, Sochett, Etienne, Cole, David E. C., Pellegrini, Fabio, Canaff, Lucie, Hendy, Geoffrey N., D’Agruma, Leonardo, Zelante, Leopoldo, Carella, Massimo, Scillitani, Alfredo, Guarnieri, Vito
Publicado 2013

Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial

por Lanfranconi, Silvia, Scola, Elisa, Bertani, Giulio Andrea, Zarino, Barbara, Pallini, Roberto, d’Alessandris, Giorgio, Mazzon, Emanuela, Marino, Silvia, Carriero, Maria Rita, Scelzo, Emma, Faragò, Giuseppe, Castori, Marco, Fusco, Carmela, Petracca, Antonio, d’Agruma, Leonardo, Tassi, Laura, d’Orio, Piergiorgio, Lampugnani, Maria Grazia, Nicolis, Enrico Bjorn, Vasamì, Antonella, Novelli, Deborah, Torri, Valter, Meessen, Jennifer Marie Theresia Anna, Salman, Rustam Al-Shahi, Dejana, Elisabetta, Latini, Roberto
Publicado 2020