Works matching AU Santamariña, Marta

Results: 16
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    3

    Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

    Published in:
    Breast Cancer Research & Treatment, 2012, v. 132, n. 3, p. 1009, doi. 10.1007/s10549-011-1674-0
    By:
    • Thomassen, Mads;
    • Blanco, Ana;
    • Montagna, Marco;
    • Hansen, Thomas;
    • Pedersen, Inge;
    • Gutiérrez-Enríquez, Sara;
    • Menéndez, Mireia;
    • Fachal, Laura;
    • Santamariña, Marta;
    • Steffensen, Ane;
    • Jønson, Lars;
    • Agata, Simona;
    • Whiley, Phillip;
    • Tognazzo, Silvia;
    • Tornero, Eva;
    • Jensen, Uffe;
    • Balmaña, Judith;
    • Kruse, Torben;
    • Goldgar, David;
    • Lázaro, Conxi
    Publication type:
    Article
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    5

    About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

    Published in:
    International Journal of Cancer, 2014, v. 134, n. 9, p. 2088, doi. 10.1002/ijc.28540
    By:
    • Gutiérrez‐Enríquez, Sara;
    • Bonache, Sandra;
    • Ruíz de Garibay, Gorka;
    • Osorio, Ana;
    • Santamariña, Marta;
    • Ramón y Cajal, Teresa;
    • Esteban‐Cardeñosa, Eva;
    • Tenés, Anna;
    • Yanowsky, Kira;
    • Barroso, Alicia;
    • Montalban, Gemma;
    • Blanco, Ana;
    • Cornet, Mònica;
    • Gadea, Neus;
    • Infante, Mar;
    • Caldés, Trinidad;
    • Díaz‐Rubio, Eduardo;
    • Balmaña, Judith;
    • Lasa, Adriana;
    • Vega, Ana
    Publication type:
    Article
    6

    A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

    Published in:
    Clinical Chemistry, 2021, v. 67, n. 3, p. 518, doi. 10.1093/clinchem/hvaa250
    By:
    • Feliubadaló, Lidia;
    • Moles-Fernández, Alejandro;
    • Santamariña-Pena, Marta;
    • T. Sánchez, Alysson;
    • López-Novo, Anael;
    • Porras, Luz-Marina;
    • Blanco, Ana;
    • Capellá, Gabriel;
    • de la Hoya, Miguel;
    • Molina, Ignacio J.;
    • Osorio, Ana;
    • Pineda, Marta;
    • Rueda, Daniel;
    • de la Cruz, Xavier;
    • Diez, Orland;
    • Ruiz-Ponte, Clara;
    • Gutiérrez-Enríquez, Sara;
    • Vega, Ana;
    • Lázaro, Conxi
    Publication type:
    Article
    7

    Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing.

    Published in:
    Clinical Chemistry, 2014, v. 60, n. 2, p. 341, doi. 10.1373/clinchem.2013.210658
    By:
    • Whiley, Phillip J.;
    • de la Hoya, Miguel;
    • Thomassen, Mads;
    • Becker, Alexandra;
    • Brandão, Rita;
    • Pedersen, Inge Sokilde;
    • Montagna, Marco;
    • Menéndez, Mireia;
    • Quiles, Francisco;
    • Gutiérrez-Enríquez, Sara;
    • De Leeneer, Kim;
    • Tenés, Anna;
    • Montalban, Gemma;
    • Tserpelis, Demis;
    • Toshio Yoshimatsu;
    • Tirapo, Carole;
    • Raponi, Michela;
    • Caldes, Trinidad;
    • Blanco, Ana;
    • Santamariña, Marta
    Publication type:
    Article
    8

    First international workshop of the ATM and cancer risk group (4-5 December 2019).

    Published in:
    Familial Cancer, 2022, v. 21, n. 2, p. 211, doi. 10.1007/s10689-021-00248-y
    By:
    • Lesueur, Fabienne;
    • Easton, Douglas F.;
    • Renault, Anne-Laure;
    • Tavtigian, Sean V.;
    • Bernstein, Jonine L.;
    • Kote-Jarai, Zsofia;
    • Eeles, Rosalind A.;
    • Plaseska-Karanfia, Dijana;
    • Feliubadaló, Lidia;
    • Spanish ATM working group;
    • Moles-Fernández, Alejandro;
    • Santamariña-Pena, Marta;
    • Sánchez, Alysson T.;
    • López-Novo, Anael;
    • Porras, Luz-Marina;
    • Blanco, Ana;
    • Capellá, Gabriel;
    • de la Hoya, Miguel;
    • Molina, Ignacio J.;
    • Osorio, Ana
    Publication type:
    Article
    9
    10

    BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

    Published in:
    Human Mutation, 2018, v. 39, n. 12, p. 2025, doi. 10.1002/humu.23652
    By:
    • Burke, Leslie J.;
    • Sevcik, Jan;
    • Gambino, Gaetana;
    • Tudini, Emma;
    • Mucaki, Eliseos J.;
    • Shirley, Ben C.;
    • Whiley, Phillip;
    • Parsons, Michael T.;
    • Leeneer, Kim;
    • Gutiérrez‐Enríquez, Sara;
    • Santamariña, Marta;
    • Caputo, Sandrine M.;
    • Santana dos Santos, Elizabeth;
    • Soukupova, Jana;
    • Janatova, Marketa;
    • Zemankova, Petra;
    • Lhotova, Klara;
    • Stolarova, Lenka;
    • Borecka, Mariana;
    • Moles‐Fernández, Alejandro
    Publication type:
    Article
    11

    Thorough in silico and in vitro cDNA analysis of 21 putative <italic>BRCA1</italic> and <italic>BRCA2</italic> splice variants and a complex tandem duplication in <italic>BRCA2</italic> allowing the identification of activated cryptic splice donor sites in <italic>BRCA2</italic> exon 11

    Published in:
    Human Mutation, 2018, v. 39, n. 4, p. 515, doi. 10.1002/humu.23390
    By:
    • Baert, Annelot;
    • Machackova, Eva;
    • Coene, Ilse;
    • Cremin, Carol;
    • Turner, Kristin;
    • Portigal‐Todd, Cheryl;
    • Asrat, Marie Jill;
    • Nuk, Jennifer;
    • Mindlin, Allison;
    • Young, Sean;
    • MacMillan, Andree;
    • Van Maerken, Tom;
    • Trbusek, Martin;
    • McKinnon, Wendy;
    • Wood, Marie E.;
    • Foulkes, William D.;
    • Santamariña, Marta;
    • de la Hoya, Miguel;
    • Foretova, Lenka;
    • Poppe, Bruce
    Publication type:
    Article
    12

    Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 ( FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles.

    Published in:
    Human Mutation, 2013, v. 34, n. 12, p. 1615, doi. 10.1002/humu.22438
    By:
    • Osorio, Ana;
    • Bogliolo, Massimo;
    • Fernández, Victoria;
    • Barroso, Alicia;
    • Hoya, Miguel;
    • Caldés, Trinidad;
    • Lasa, Adriana;
    • Ramón y Cajal, Teresa;
    • Santamariña, Marta;
    • Vega, Ana;
    • Quiles, Francisco;
    • Lázaro, Conxi;
    • Díez, Orland;
    • Fernández, Daniel;
    • González‐Sarmiento, Rogelio;
    • Durán, Mercedes;
    • Piqueras, José Fernández;
    • Marín, Maria;
    • Pujol, Roser;
    • Surrallés, Jordi
    Publication type:
    Article
    13

    Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

    Published in:
    Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00366
    By:
    • Moles-Fernández, Alejandro;
    • Duran-Lozano, Laura;
    • Montalban, Gemma;
    • Bonache, Sandra;
    • López-Perolio, Irene;
    • Menéndez, Mireia;
    • Santamariña, Marta;
    • Behar, Raquel;
    • Blanco, Ana;
    • Carrasco, Estela;
    • López-Fernández, Adrià;
    • Stjepanovic, Neda;
    • Balmaña, Judith;
    • Capellá, Gabriel;
    • Pineda, Marta;
    • Vega, Ana;
    • Lázaro, Conxi;
    • de la Hoya, Miguel;
    • Diez, Orland;
    • Gutiérrez-Enríquez, Sara
    Publication type:
    Article
    14

    Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2256, doi. 10.1093/hmg/ddw094
    By:
    • de la Hoya, Miguel;
    • Soukarieh, Omar;
    • López-Perolio, Irene;
    • Vega, Ana;
    • Walker, Logan C.;
    • van Ierland, Yvette;
    • Baralle, Diana;
    • Santamariña, Marta;
    • Lattimore, Vanessa;
    • Wijnen, Juul;
    • Whiley, Philip;
    • Blanco, Ana;
    • Raponi, Michela;
    • Hauke, Jan;
    • Wappenschmidt, Barbara;
    • Becker, Alexandra;
    • Hansen, Thomas V. O.;
    • Behar, Raquel;
    • Niederacher, Diether;
    • Arnold, Norbert
    Publication type:
    Article
    15

    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
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