Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

by Crippa, Milena, Rusconi, Daniela, Castronovo, Chiara, Bestetti, Ilaria, Russo, Silvia, Cereda, Anna, Selicorni, Angelo, Larizza, Lidia, Finelli, Palma
Published 2015

SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case

by Frigerio, Marcello, Passeri, Elena, de Filippis, Tiziana, Rusconi, Daniela, Valaperta, Rea, Carminati, Mario, Donnangelo, Anita, Costa, Elena, Persani, Luca, Finelli, Palma, Corbetta, Sabrina
Published 2011

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

by Gervasini, Cristina, Picinelli, Chiara, Azzollini, Jacopo, Rusconi, Daniela, Masciadri, Maura, Cereda, Anna, Marzocchi, Cinzia, Zampino, Giuseppe, Selicorni, Angelo, Tenconi, Romano, Russo, Silvia, Larizza, Lidia, Finelli, Palma
Published 2013

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome

by Castronovo, Chiara, Rossetti, Raffaella, Rusconi, Daniela, Recalcati, Maria P., Cacciatore, Chiara, Beccaria, Elena, Calcaterra, Valeria, Invernizzi, Pietro, Larizza, Daniela, Finelli, Palma, Persani, Luca
Published 2014

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

by Crippa, Milena, Bestetti, Ilaria, Perotti, Mario, Castronovo, Chiara, Tabano, Silvia, Picinelli, Chiara, Grassi, Guido, Larizza, Lidia, Pincelli, Angela Ida, Finelli, Palma
Published 2014

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological ph...

by Finelli, Palma, Sirchia, Silvia Maria, Masciadri, Maura, Crippa, Milena, Recalcati, Maria Paola, Rusconi, Daniela, Giardino, Daniela, Monti, Laura, Cogliati, Francesca, Faravelli, Francesca, Natacci, Federica, Zoccante, Leonardo, Bernardina, Bernardo Dalla, Russo, Silvia, Larizza, Lidia
Published 2012

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

by Roversi, Gaia, Picinelli, Chiara, Bestetti, Ilaria, Crippa, Milena, Perotti, Daniela, Ciceri, Sara, Saccheri, Fabiana, Collini, Paola, Poliani, Pietro L., Catania, Serena, Peissel, Bernard, Pagni, Fabio, Russo, Silvia, Peterlongo, Paolo, Manoukian, Siranoush, Finelli, Palma
Published 2015

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes

by Castronovo, Chiara, Valtorta, Emanuele, Crippa, Milena, Tedoldi, Sara, Romitti, Lorenza, Amione, Maria Cristina, Guerneri, Silvana, Rusconi, Daniela, Ballarati, Lucia, Milani, Donatella, Grosso, Enrico, Cavalli, Pietro, Giardino, Daniela, Bonati, Maria Teresa, Larizza, Lidia, Finelli, Palma
Published 2013

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

by Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia
Published 2016

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

by Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia
Published 2016