Works matching AU De Vecchi, Giovanna

Results: 9

Mixed Neuroendocrine/Non-neuroendocrine Neoplasm (MiNEN) of the Ovary Arising from Endometriosis: Molecular Pathology Analysis in Support of a Pathogenetic Paradigm.

Published in:

Endocrine Pathology, 2022, v. 33, n. 3, p. 400, doi. 10.1007/s12022-021-09689-8

By:

Maragliano, Roberta;
Libera, Laura;
Carnevali, Ileana;
Pensotti, Valeria;
De Vecchi, Giovanna;
Testa, Margherita;
Amaglio, Cristina;
Leoni, Eleonora;
Formenti, Giorgio;
Sessa, Fausto;
Furlan, Daniela;
Uccella, Silvia

Publication type:

Article

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

Published in:

Cancers, 2021, v. 13, n. 3, p. 532, doi. 10.3390/cancers13030532

By:

Figlioli, Gisella;
De Nicolo, Arcangela;
Catucci, Irene;
Manoukian, Siranoush;
Peissel, Bernard;
Azzollini, Jacopo;
Beltrami, Benedetta;
Bonanni, Bernardo;
Calvello, Mariarosaria;
Bondavalli, Davide;
Pasini, Barbara;
Vignolo Lutati, Francesca;
Ogliara, Paola;
Zuradelli, Monica;
Pensotti, Valeria;
De Vecchi, Giovanna;
Volorio, Sara;
Verderio, Paolo;
Pizzamiglio, Sara;
Matullo, Giuseppe

Publication type:

Article

Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma.

Published in:

Cancers, 2020, v. 12, n. 9, p. 2503, doi. 10.3390/cancers12092503

By:

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

Publication type:

Article

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

Published in:

Cancers, 2019, v. 11, n. 3, p. 295, doi. 10.3390/cancers11030295

By:

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

Publication type:

Article

Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14.

Published in:

Human Mutation, 2004, v. 24, n. 5, p. 400, doi. 10.1002/humu.20096

By:

Perotti, Daniela;
De Vecchi, Giovanna;
Testi, Maria A.;
Lualdi, Elena;
Modena, Piergiorgio;
Mondini, Patrizia;
Ravagnani, Fernando;
Collini, Paola;
Di Renzo, Francesca;
Spreafico, Filippo;
Terenziani, Monica;
Sozzi, Gabriella;
Fossati-Bellani, Franca;
Radice, Paolo

Publication type:

Article

Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations.

Published in:

PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057173

By:

Colombo, Mara;
De Vecchi, Giovanna;
Caleca, Laura;
Foglia, Claudia;
Ripamonti, Carla B.;
Ficarazzi, Filomena;
Barile, Monica;
Varesco, Liliana;
Peissel, Bernard;
Manoukian, Siranoush;
Radice, Paolo

Publication type:

Article

The <italic>BRCA2</italic> c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 729, doi. 10.1002/humu.23411

By:

Colombo, Mara;
Lòpez‐Perolio, Irene;
Meeks, Huong D.;
Caleca, Laura;
Parsons, Michael T.;
Li, Hongyan;
De Vecchi, Giovanna;
Tudini, Emma;
Foglia, Claudia;
Mondini, Patrizia;
Manoukian, Siranoush;
Behar, Raquel;
Garcia, Encarna B. Gómez;
Meindl, Alfons;
Montagna, Marco;
Niederacher, Dieter;
Schmidt, Ane Y.;
Varesco, Liliana;
Wappenschmidt, Barbara;
Bolla, Manjeet K.

Publication type:

Article

Evaluation of a 5-Tier Scheme Proposed for Classification of Sequence Variants Using Bioinformatic and Splicing Assay Data: Inter-Reviewer Variability and Promotion of Minimum Reporting Guidelines.

Published in:

Human Mutation, 2013, v. 34, n. 10, p. 1424, doi. 10.1002/humu.22388

By:

Walker, Logan C.;
Whiley, Phillip J.;
Houdayer, Claude;
Hansen, Thomas V. O.;
Vega, Ana;
Santamarina, Marta;
Blanco, Ana;
Fachal, Laura;
Southey, Melissa C.;
Lafferty, Alan;
Colombo, Mara;
De Vecchi, Giovanna;
Radice, Paolo;
Spurdle, Amanda B.

Publication type:

Article

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666

By:

Colombo, Mara;
Blok, Marinus J.;
Whiley, Phillip;
Santamariña, Marta;
Gutiérrez-Enríquez, Sara;
Romero, Atocha;
Garre, Pilar;
Becker, Alexandra;
Smith, Lindsay Denise;
De Vecchi, Giovanna;
Brandão, Rita D.;
Tserpelis, Demis;
Brown, Melissa;
Blanco, Ana;
Bonache, Sandra;
Menéndez, Mireia;
Houdayer, Claude;
Foglia, Claudia;
Fackenthal, James D.;
Baralle, Diana

Publication type:

Article