A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

od Rubattu, Speranza, Bozzao, Cristina, Pennacchini, Ermelinda, Pagannone, Erika, Musumeci, Beatrice Maria, Piane, Maria, Germani, Aldo, Savio, Camilla, Francia, Pietro, Volpe, Massimo, Autore, Camillo, Chessa, Luciana
izdano v Int J Mol Sci (2016)

TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report

od Cava, Francesco, Cristiano, Ernesto, Musumeci, Maria Beatrice, Savio, Camilla, Germani, Aldo, Monaco, Maria Lo, Petrucci, Simona, Torrisi, Maria Rosaria, Autore, Camillo, Rubattu, Speranza, Piane, Maria
izdano v Mol Genet Metab Rep (2021)

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline

od Germani, Aldo, Libi, Fabio, Maggi, Stefano, Stanzani, Gianluca, Lombardi, Augusto, Pellegrini, Patrizia, Mattei, Mauro, De Marchis, Laura, Amanti, Claudio, Pizzuti, Antonio, Torrisi, Maria Rosaria, Piane, Maria
izdano v Oncotarget (2018)

A SMYD3 Small-Molecule Inhibitor Impairing Cancer Cell Growth

od Peserico, Alessia, Germani, Aldo, Sanese, Paola, Barbosa, Armenio Jorge, Di Virgilio, Valeria, Fittipaldi, Raffaella, Fabini, Edoardo, Bertucci, Carlo, Varchi, Greta, Moyer, Mary Pat, Caretti, Giuseppina, Del Rio, Alberto, Simone, Cristiano
izdano v J Cell Physiol (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...

od 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
izdano v PLoS One (2015)

Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing

od Magrì, Damiano, Mastromarino, Vittoria, Gallo, Giovanna, Zachara, Elisabetta, Re, Federica, Agostoni, Piergiuseppe, Giordano, Dario, Rubattu, Speranza, Forte, Maurizio, Cotugno, Maria, Torrisi, Maria Rosaria, Petrucci, Simona, Germani, Aldo, Savio, Camilla, Maruotti, Antonello, Volpe, Massimo, Autore, Camillo, Piane, Maria, Musumeci, Beatrice
izdano v J Clin Med (2020)

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

od 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
izdano v Autophagy (2015)

Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers

od Germani, Aldo, Petrucci, Simona, De Marchis, Laura, Libi, Fabio, Savio, Camilla, Amanti, Claudio, Bonifacino, Adriana, Campanella, Barbara, Capalbo, Carlo, Lombardi, Augusto, Maggi, Stefano, Mattei, Mauro, Osti, Mattia Falchetto, Pellegrini, Patrizia, Speranza, Annarita, Stanzani, Gianluca, Vitale, Valeria, Pizzuti, Antonio, Torrisi, Maria Rosaria, Piane, Maria
izdano v J Clin Med (2020)

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

od Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lidia, Aalfs, Cora M., Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso‐Cerezo, María Concepción, Arnold, Norbert, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmaña, Judith, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Blümcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Åke, Bortesi, Beatrice, Brunet, Joan, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux‐Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, de la Hoya, Miguel, Dean, Michael, Debatin, Irmgard, Del Valle, Jesús, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana M., Ehrencrona, Hans, Enders, Ute, Evans, D. Gareth, Farra, Chantal, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Foulkes, William D., Galvao, Henrique C.R., Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne‐Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gómez, Carolina, Gómez Garcia, Encarna B., González, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri‐Gonzaga, Aliana, Guillaud‐Bataille, Marine, Gutiérrez‐Enríquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas V.O., Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Hübbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda A.M., Jeschke, Udo, Kaulfuß, Silke, Keupp, Katharina, Kiechle, Marion, Kölbl, Alexandra, Krieger, Sophie, Kruse, Torben A., Kvist, Anders, Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa L., Lautrup, Charlotte, Ledig, Susanne, Leinert, Elena, Lewis, Alexandra L., Lim, Joanna, Loeffler, Markus, López‐Fernández, Adrià, Lucci‐Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles‐Fernández, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Müller, Clemens R., Mundhenke, Christoph, Naldi, Nadia, Nathanson, Katherine L., Navarro, Matilde, Nevanlinna, Heli, Nichols, Cassandra B., Niederacher, Dieter, Nielsen, Henriette R., Ong, Kai‐ren, Pachter, Nicholas, Palmero, Edenir I., Papi, Laura, Pedersen, Inge Sokilde, Peissel, Bernard, Perez‐Segura, Pedro, Pfeifer, Katharina, Pineda, Marta, Pohl‐Rescigno, Esther, Poplawski, Nicola K., Porfirio, Berardino, Quante, Anne S., Ramser, Juliane, Reis, Rui M., Revillion, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela, Rofes, Paula, Rump, Andreas, Salinas, Monica, Sánchez de Abajo, Ana María, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiß, Jochen, Solanes, Ares, Steinemann, Doris, Stiller, Mathias, Stoppa‐Lyonnet, Dominique, Sullivan, Kelly J., Susman, Rachel, Sutter, Christian, Tavtigian, Sean V., Teo, Soo H., Teulé, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tornero, Eva, Törngren, Therese, Torres‐Esquius, Sara, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana, Vargas‐Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Ángela, Vesper, Anne‐Sophie, Viel, Alessandra, Vreeswijk, Maaike P. G., Wagner, Sebastian A., Waha, Anke, Walker, Logan C., Walters, Rhiannon J., Wang‐Gohrke, Shan, Weber, Bernhard H. F., Weichert, Wilko, Wieland, Kerstin, Wiesmüller, Lisa, Witzel, Isabell, Wöckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder‐Göß, Christine, Investigators, KConFab, Lázaro, Conxi, De Nicolo, Arcangela, Radice, Paolo, Engel, Christoph, Schmutzler, Rita K., Goldgar, David E., Spurdle, Amanda B.
izdano v Hum Mutat (2019)