Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants

por Sutera, Samuele, Giachino, Daniela Francesca, Pelle, Alessandra, Zuntini, Roberta, Pentenero, Monica
Publicado 2022

The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene

por Giustetto, Carla, Scrocco, Chiara, Giachino, Daniela, Rapezzi, Claudio, Mognetti, Barbara, Gaita, Fiorenzo
Publicado 2015

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation

por Montioli, Riccardo, Roncador, Alessandro, Oppici, Elisa, Mandrile, Giorgia, Giachino, Daniela Francesca, Cellini, Barbara, Borri Voltattorni, Carla
Publicado 2014

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

por Mandrile, Giorgia, Di Gregorio, Eleonora, Calcia, Alessandro, Brussino, Alessandro, Grosso, Enrico, Savin, Elisa, Giachino, Daniela Francesca, Brusco, Alfredo
Publicado 2014

The Role of Genetic Factors in Characterizing Extra-Intestinal Manifestations in Crohn’s Disease Patients: Are Bayesian Machine Learning Methods Improving Outcome Predictions?

por Bottigliengo, Daniele, Berchialla, Paola, Lanera, Corrado, Azzolina, Danila, Lorenzoni, Giulia, Martinato, Matteo, Giachino, Daniela, Baldi, Ileana, Gregori, Dario
Publicado 2019

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients

por Ricci, Maria Teresa, Menegon, Silvia, Vatrano, Simona, Mandrile, Giorgia, Cerrato, Natascia, Carvalho, Paula, De Marchi, Mario, Gaita, Fiorenzo, Giustetto, Carla, Giachino, Daniela Francesca
Publicado 2014

Detection and characterization of classical and “uncommon” exon 19 Epidermal Growth Factor Receptor mutations in lung cancer by pyrosequencing

por Righi, Luisella, Cuccurullo, Alessandra, Vatrano, Simona, Cappia, Susanna, Giachino, Daniela, Giuli, Paolo De, Ardine, Mara, Novello, Silvia, Volante, Marco, Scagliotti, Giorgio V, Papotti, Mauro
Publicado 2013

Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene

por Monasky, Michelle M., Micaglio, Emanuele, Giachino, Daniela, Ciconte, Giuseppe, Giannelli, Luigi, Locati, Emanuela T., Ramondini, Elisa, Cotugno, Roberta, Vicedomini, Gabriele, Borrelli, Valeria, Ghiroldi, Andrea, Anastasia, Luigi, Pappone, Carlo
Publicado 2019

Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease

por Mandrile, Giorgia, Pelle, Alessandra, Sciannameo, Veronica, Benetti, Elisa, D’Alessandro, Maria Michela, Emma, Francesco, Montini, Giovanni, Peruzzi, Licia, Petrarulo, Michele, Romagnoli, Renato, Vitale, Corrado, Cellini, Barbara, Giachino, Daniela
Publicado 2022

Analysis of BCLI, N363S and ER22/23EK Polymorphisms of the Glucocorticoid Receptor Gene in Adrenal Incidentalomas

por Reimondo, Giuseppe, Chiodini, Iacopo, Puglisi, Soraya, Pia, Anna, Morelli, Valentina, Kastelan, Darko, Cannavo, Salvatore, Berchialla, Paola, Giachino, Daniela, Perotti, Paola, Cuccurullo, Alessandra, Paccotti, Piero, Beck-Peccoz, Paolo, De Marchi, Mario, Terzolo, Massimo
Publicado 2016

Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells

por Gerosa, Franca, Baldani-Guerra, Barbara, Lyakh, Lyudmila A., Batoni, Giovanna, Esin, Semih, Winkler-Pickett, Robin T., Consolaro, Maria Rita, De Marchi, Mario, Giachino, Daniela, Robbiano, Angela, Astegiano, Marco, Sambataro, Angela, Kastelein, Robert A., Carra, Giuseppe, Trinchieri, Giorgio
Publicado 2008

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

por Middelkamp, Sjors, Vlaar, Judith M., Giltay, Jacques, Korzelius, Jerome, Besselink, Nicolle, Boymans, Sander, Janssen, Roel, de la Fonteijne, Lisanne, van Binsbergen, Ellen, van Roosmalen, Markus J., Hochstenbach, Ron, Giachino, Daniela, Talkowski, Michael E., Kloosterman, Wigard P., Cuppen, Edwin
Publicado 2019

Workload measurement for molecular genetics laboratory: A survey study

por Tagliafico, Enrico, Bernardis, Isabella, Grasso, Marina, D’Apice, Maria Rosaria, Lapucci, Cristina, Botta, Annalisa, Giachino, Daniela Francesca, Marinelli, Maria, Primignani, Paola, Russo, Silvia, Sani, Ilaria, Seia, Manuela, Fini, Sergio, Rimessi, Paola, Tenedini, Elena, Ravani, Anna, Genuardi, Maurizio, Ferlini, Alessandra
Publicado 2018

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

por Cretu Stancu, Mircea, van Roosmalen, Markus J., Renkens, Ivo, Nieboer, Marleen M., Middelkamp, Sjors, de Ligt, Joep, Pregno, Giulia, Giachino, Daniela, Mandrile, Giorgia, Espejo Valle-Inclan, Jose, Korzelius, Jerome, de Bruijn, Ewart, Cuppen, Edwin, Talkowski, Michael E., Marschall, Tobias, de Ridder, Jeroen, Kloosterman, Wigard P.
Publicado 2017

Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience

por Vaisitti, Tiziana, Sorbini, Monica, Callegari, Martina, Kalantari, Silvia, Bracciamà, Valeria, Arruga, Francesca, Vanzino, Silvia Bruna, Rendine, Sabina, Togliatto, Gabriele, Giachino, Daniela, Pelle, Alessandra, Cocchi, Enrico, Benvenuta, Chiara, Baldovino, Simone, Rollino, Cristiana, Fenoglio, Roberta, Sciascia, Savino, Tamagnone, Michela, Vitale, Corrado, Calabrese, Giovanni, Biancone, Luigi, Bussolino, Stefania, Savoldi, Silvana, Borzumati, Maurizio, Cantaluppi, Vincenzo, Chiappero, Fabio, Ungari, Silvana, Peruzzi, Licia, Roccatello, Dario, Amoroso, Antonio, Deaglio, Silvia
Publicado 2020

Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience

por Sculco, Marika, La Vecchia, Marta, Aspesi, Anna, Clavenna, Michela Giulia, Salvo, Michela, Borgonovi, Giulia, Pittaro, Alessandra, Witel, Gianluca, Napoli, Francesca, Listì, Angela, Grosso, Federica, Libener, Roberta, Maconi, Antonio, Rena, Ottavio, Boldorini, Renzo, Giachino, Daniela, Bironzo, Paolo, Maffè, Antonella, Alì, Greta, Elefanti, Lisa, Menin, Chiara, Righi, Luisella, Tampieri, Cristian, Scagliotti, Giorgio Vittorio, Dianzani, Caterina, Ferrante, Daniela, Migliore, Enrica, Magnani, Corrado, Mirabelli, Dario, Matullo, Giuseppe, Dianzani, Irma
Publicado 2022

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

por Collins, Ryan L., Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R., Glessner, Joseph T., Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon-Yong, Currall, Benjamin B., Seabra, Catarina M., Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A., Lucente, Diane, Levy, Brynn, Sanders, Stephan J., Wapner, Ronald J., Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E.
Publicado 2017

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

por Walsh, Roddy, Lahrouchi, Najim, Tadros, Rafik, Kyndt, Florence, Glinge, Charlotte, Postema, Pieter G., Amin, Ahmad S., Nannenberg, Eline A., Ware, James S., Whiffin, Nicola, Mazzarotto, Francesco, Škorić-Milosavljević, Doris, Krijger, Christian, Arbelo, Elena, Babuty, Dominique, Barajas-Martinez, Hector, Beckmann, Britt M., Bézieau, Stéphane, Bos, J. Martijn, Breckpot, Jeroen, Campuzano, Oscar, Castelletti, Silvia, Celen, Candan, Clauss, Sebastian, Corveleyn, Anniek, Crotti, Lia, Dagradi, Federica, de Asmundis, Carlo, Denjoy, Isabelle, Dittmann, Sven, Ellinor, Patrick T., Ortuño, Cristina Gil, Giustetto, Carla, Gourraud, Jean-Baptiste, Hazeki, Daisuke, Horie, Minoru, Ishikawa, Taisuke, Itoh, Hideki, Kaneko, Yoshiaki, Kanters, Jørgen K., Kimoto, Hiroki, Kotta, Maria-Christina, Krapels, Ingrid P. C., Kurabayashi, Masahiko, Lazarte, Julieta, Leenhardt, Antoine, Loeys, Bart L., Lundin, Catarina, Makiyama, Takeru, Mansourati, Jacques, Martins, Raphaël P., Mazzanti, Andrea, Mörner, Stellan, Napolitano, Carlo, Ohkubo, Kimie, Papadakis, Michael, Rudic, Boris, Molina, Maria Sabater, Sacher, Frédéric, Sahin, Hatice, Sarquella-Brugada, Georgia, Sebastiano, Regina, Sharma, Sanjay, Sheppard, Mary N., Shimamoto, Keiko, Shoemaker, M. Benjamin, Stallmeyer, Birgit, Steinfurt, Johannes, Tanaka, Yuji, Tester, David J., Usuda, Keisuke, van der Zwaag, Paul A., Van Dooren, Sonia, Van Laer, Lut, Winbo, Annika, Winkel, Bo G., Yamagata, Kenichiro, Zumhagen, Sven, Volders, Paul G. A., Lubitz, Steven A., Antzelevitch, Charles, Platonov, Pyotr G., Odening, Katja E., Roden, Dan M., Roberts, Jason D., Skinner, Jonathan R., Tfelt-Hansen, Jacob, van den Berg, Maarten P., Olesen, Morten S., Lambiase, Pier D., Borggrefe, Martin, Hayashi, Kenshi, Rydberg, Annika, Nakajima, Tadashi, Yoshinaga, Masao, Saenen, Johan B., Kääb, Stefan, Brugada, Pedro, Robyns, Tomas, Giachino, Daniela F., Ackerman, Michael J., Brugada, Ramon, Brugada, Josep, Gimeno, Juan R., Hasdemir, Can, Guicheney, Pascale, Priori, Silvia G., Schulze-Bahr, Eric, Makita, Naomasa, Schwartz, Peter J., Shimizu, Wataru, Aiba, Takeshi, Schott, Jean-Jacques, Redon, Richard, Ohno, Seiko, Probst, Vincent, Behr, Elijah R., Barc, Julien, Bezzina, Connie R.
Publicado 2020