Reply to Burn and Chapman

Por Stella, Alessandro, Resta, Nicoletta, Guanti, Ginevra
Publicado em 1994

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects

Por Lastella, Patrizia, Surdo, Nicoletta Concetta, Resta, Nicoletta, Guanti, Ginevra, Stella, Alessandro
Publicado em 2006

From clinical suspect to molecular confirmation of noonan syndrome; contribution of “best practice” genetic counseling and new technical possibilities

Por Bukvic Nenad, Varvara Dora, Rossi Cesare, Felicia-Faienza Maria, Susca Francesco C., Resta Nicoletta
Publicado em 2015-01-01

Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutations

Por Rizzo, Francesca Maria, Palmirotta, Raffaele, Marzullo, Andrea, Resta, Nicoletta, Cives, Mauro, Tucci, Marco, Silvestris, Franco
Publicado no BMC Cancer (2016)

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

Por Pierucci, Paola, Lenato, Gennaro M, Suppressa, Patrizia, Lastella, Patrizia, Triggiani, Vincenzo, Valerio, Raffaella, Comelli, Mario, Salvante, Daniela, Stella, Alessandro, Resta, Nicoletta, Logroscino, Giancarlo, Resta, Francesco, Sabbà, Carlo
Publicado em 2012

Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes

Por Forte, Giovanna, Grossi, Valentina, Celestini, Valentina, Lucisano, Giuseppe, Scardapane, Marco, Varvara, Dora, Patruno, Margherita, Bagnulo, Rosanna, Loconte, Daria, Giunti, Laura, Petracca, Antonio, Giglio, Sabrina, Genuardi, Maurizio, Pellegrini, Fabio, Resta, Nicoletta, Simone, Cristiano
Publicado em 2014

Clinical and Functional Characterization of a Novel Mutation in Lamin A/C Gene in a Multigenerational Family with Arrhythmogenic Cardiac Laminopathy

Por Forleo, Cinzia, Carmosino, Monica, Resta, Nicoletta, Rampazzo, Alessandra, Valecce, Rosanna, Sorrentino, Sandro, Iacoviello, Massimo, Pisani, Francesco, Procino, Giuseppe, Gerbino, Andrea, Scardapane, Arnaldo, Simone, Cristiano, Calore, Martina, Torretta, Silvia, Svelto, Maria, Favale, Stefano
Publicado no PLoS One (2015)

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sen...

Por Loconte, Daria C., Grossi, Valentina, Bozzao, Cristina, Forte, Giovanna, Bagnulo, Rosanna, Stella, Alessandro, Lastella, Patrizia, Cutrone, Mario, Benedicenti, Francesco, Susca, Francesco C., Patruno, Margherita, Varvara, Dora, Germani, Aldo, Chessa, Luciana, Laforgia, Nicola, Tenconi, Romano, Simone, Cristiano, Resta, Nicoletta
Publicado no PLoS One (2015)

Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38

Por Grossi, Valentina, Lucarelli, Giuseppe, Forte, Giovanna, Peserico, Alessia, Matrone, Antonio, Germani, Aldo, Rutigliano, Monica, Stella, Alessandro, Bagnulo, Rosanna, Loconte, Daria, Galleggiante, Vanessa, Sanguedolce, Francesca, Cagiano, Simona, Bufo, Pantaleo, Trabucco, Senia, Maiorano, Eugenio, Ditonno, Pasquale, Battaglia, Michele, Resta, Nicoletta, Simone, Cristiano
Publicado no Autophagy (2015)

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ(10) Deficiency

Por Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, Resta, Nicoletta, Laforgia, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thomas, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, Ghezzi, Daniele
Publicado no Am J Hum Genet (2015)