Genetic analysis of genes associated with epilepsy

由 Guerri, Giulia, Castori, Marco, D’Agruma, Leonardo, Petracca, Antonio, Kurti, Danjela, Bertelli, Matteo
發表在 Acta Biomed (2020)

Leber’s hereditary optic neuropathy (LHON) in an Apulian cohort of subjects

由 BIANCO, ANGELICA, BISCEGLIA, LUIGI, TREROTOLI, PAOLO, RUSSO, LUCIANA, D’AGRUMA, LEONARDO, GUERRIERO, SILVANA, PETRUZZELLA, VITTORIA
發表在 Acta Myol (2017)

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

由 De Luise, Monica, Guarnieri, Vito, Ceccarelli, Claudio, D'Agruma, Leonardo, Porcelli, Anna Maria, Gasparre, Giuseppe
發表在 Oxid Med Cell Longev (2019)

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

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

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis

由 Nicoletti, Annalisa, Ziccardi, Lucia, Maltese, Paolo Enrico, Benedetti, Sabrina, Palumbo, Orazio, Rendina, Michelina, D'Agruma, Leonardo, Falsini, Benedetto, Wang, Xinjing, Bertelli, Matteo
發表在 Genet Test Mol Biomarkers (2017)

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

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

Candidate gene study of <it>HOXB1 </it>in autism spectrum disorder

由 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
出版 2010-05-01

Candidate gene study of HOXB1 in autism spectrum disorder

由 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
出版 2010

Novel association of MEN1 gene mutations with parathyroid carcinoma

由 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
發表在 Oncol Lett (2017)

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

由 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
發表在 Acta Biomed (2020)

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

由 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
發表在 Acta Biomed (2020)

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

由 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
出版 2013

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

由 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
發表在 Trials (2020)