Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

by Mara Colombo, Giovanna De Vecchi, Laura Caleca, Claudia Foglia, Carla B Ripamonti, Filomena Ficarazzi, Monica Barile, Liliana Varesco, Bernard Peissel, Siranoush Manoukian, Paolo Radice
Published 2013-01-01

ArticlePre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma

by Jacopo Azzollini, Elisabetta Schiavello, Francesca Romana Buttarelli, Carlo Alfredo Clerici, Laura Tizzoni, Giovanna De Vecchi, Fabio Capra, Federica Pisati, Veronica Biassoni, Letterio Runza, Giorgio Carrabba, Felice Giangaspero, Maura Massimino, Valeria Pensotti, Siranoush Manoukian
Published 2020-09-01

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance

by Elisa Gelli, Mara Colombo, Anna Maria Pinto, Giovanna De Vecchi, Claudia Foglia, Sara Amitrano, Valeria Morbidoni, Valentina Imperatore, Siranoush Manoukian, Margherita Baldassarri, Caterina Lo Rizzo, Lorenza Catania, Elisa Frullanti, Enrico Tagliafico, Laura Cortesi, Federica Spaggiari, Maria Antonietta Mencarelli, Eva Trevisson, Paolo Radice, Alessandra Renieri, Francesca Ariani
Published 2019-03-01

Analysis of Italian <i>BRCA1/2</i> Pathogenic Variants Identifies a Private Spectrum in the Population from the Bergamo Province in Northern Italy

by Gisella Figlioli, Arcangela De Nicolo, Irene Catucci, Siranoush Manoukian, Bernard Peissel, Jacopo Azzollini, Benedetta Beltrami, Bernardo Bonanni, Mariarosaria Calvello, Davide Bondavalli, Barbara Pasini, Francesca Vignolo Lutati, Paola Ogliara, Monica Zuradelli, Valeria Pensotti, Giovanna De Vecchi, Sara Volorio, Paolo Verderio, Sara Pizzamiglio, Giuseppe Matullo, Serena Aneli, Giovanni Birolo, Federica Zanardi, Carlo Tondini, Alberto Zambelli, Luca Livraghi, Michela Franchi, Paolo Radice, Paolo Peterlongo
Published 2021-01-01