Works matching AU Colombo, Mara

Results: 22
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    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
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    Characterization of an Italian Founder Mutation in the RING-Finger Domain of <i>BRCA1</i>.

    Published in:
    PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0086924
    By:
    • Caleca, Laura;
    • Putignano, Anna Laura;
    • Colombo, Mara;
    • Congregati, Caterina;
    • Sarkar, Mohosin;
    • Magliery, Thomas J.;
    • Ripamonti, Carla B.;
    • Foglia, Claudia;
    • Peissel, Bernard;
    • Zaffaroni, Daniela;
    • Manoukian, Siranoush;
    • Tondini, Carlo;
    • Barile, Monica;
    • Pensotti, Valeria;
    • Bernard, Loris;
    • Papi, Laura;
    • Radice, Paolo
    Publication type:
    Article
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    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
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    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
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    FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 18, p. 5345, doi. 10.1093/hmg/ddv251
    By:
    • Peterlongo, Paolo;
    • Catucci, Irene;
    • Colombo, Mara;
    • Caleca, Laura;
    • Mucaki, Eliseos;
    • Bogliolo, Massimo;
    • Marin, Maria;
    • Damiola, Francesca;
    • Bernard, Loris;
    • Pensotti, Valeria;
    • Volorio, Sara;
    • Dall'Olio, Valentina;
    • Meindl, Alfons;
    • Bartram, Claus;
    • Sutter, Christian;
    • Surowy, Harald;
    • Sornin, Valérie;
    • Dondon, Marie-Gabrielle;
    • Eon-Marchais, Séverine;
    • Stoppa-Lyonnet, Dominique
    Publication type:
    Article
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    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