Genetic analysis of genes associated with epilepsy

by Guerri, Giulia, Castori, Marco, D’Agruma, Leonardo, Petracca, Antonio, Kurti, Danjela, Bertelli, Matteo
Published in Acta Biomed (2020)

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

by BIANCO, ANGELICA, BISCEGLIA, LUIGI, TREROTOLI, PAOLO, RUSSO, LUCIANA, D’AGRUMA, LEONARDO, GUERRIERO, SILVANA, PETRUZZELLA, VITTORIA
Published in Acta Myol (2017)

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

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

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

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

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

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

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

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

by 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
Published 2010-05-01

Candidate gene study of HOXB1 in autism spectrum disorder

by 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
Published 2010

Novel association of MEN1 gene mutations with parathyroid carcinoma

by 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
Published in Oncol Lett (2017)

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

by 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
Published in Acta Biomed (2020)

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

by 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
Published in Acta Biomed (2020)

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

by 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
Published 2013

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

by 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
Published in Trials (2020)