Genetic analysis of genes associated with epilepsy

gan Guerri, Giulia, Castori, Marco, D’Agruma, Leonardo, Petracca, Antonio, Kurti, Danjela, Bertelli, Matteo
Cyhoeddwyd yn Acta Biomed (2020)

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

gan BIANCO, ANGELICA, BISCEGLIA, LUIGI, TREROTOLI, PAOLO, RUSSO, LUCIANA, D’AGRUMA, LEONARDO, GUERRIERO, SILVANA, PETRUZZELLA, VITTORIA
Cyhoeddwyd yn Acta Myol (2017)

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

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

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

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

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

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

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

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

gan 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
Cyhoeddwyd 2010-05-01

Candidate gene study of HOXB1 in autism spectrum disorder

gan 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
Cyhoeddwyd 2010

Novel association of MEN1 gene mutations with parathyroid carcinoma

gan 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
Cyhoeddwyd yn Oncol Lett (2017)

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

gan 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
Cyhoeddwyd yn Acta Biomed (2020)

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

gan 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
Cyhoeddwyd yn Acta Biomed (2020)

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

gan 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
Cyhoeddwyd 2013

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

gan 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
Cyhoeddwyd yn Trials (2020)