Found: 9

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  • New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 13, p. 3506, doi. 10.1093/hmg/ddu058
    By:
    • Valle, Laura;
    • Hernández-Illán, Eva;
    • Bellido, Fernando;
    • Aiza, Gemma;
    • Castillejo, Adela;
    • Castillejo, María-Isabel;
    • Navarro, Matilde;
    • Seguí, Nuria;
    • Vargas, Gardenia;
    • Guarinos, Carla;
    • Juarez, Miriam;
    • Sanjuán, Xavier;
    • Iglesias, Silvia;
    • Alenda, Cristina;
    • Egoavil, Cecilia;
    • Segura, Ángel;
    • Juan, María-José;
    • Rodriguez-Soler, María;
    • Brunet, Joan;
    • González, Sara
    Publication type:
    Article

  • Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review.

    Published in:
    Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101686
    By:
    • Lo Riso, Laura;
    • Vargas-Parra, Gardenia;
    • Navarro, Gemma;
    • Arenillas, Leonor;
    • Fernández-Ibarrondo, Lierni;
    • Robredo, Beatriz;
    • Ballester, Carmen;
    • López, Bernardo;
    • Perez-Montaña, Albert;
    • Sampol, Antonia;
    • Florensa, Lourdes;
    • Besses, Carles;
    • Duran, María Antonia;
    • Bellosillo, Beatriz
    Publication type:
    Article

  • MLH1 methylation screening is effective in identifying epimutation carriers.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1256, doi. 10.1038/ejhg.2012.136
    By:
    • Pineda, Marta;
    • Mur, Pilar;
    • Iniesta, María Dolores;
    • Borràs, Ester;
    • Campos, Olga;
    • Vargas, Gardenia;
    • Iglesias, Sílvia;
    • Fernández, Anna;
    • Gruber, Stephen B;
    • Lázaro, Conxi;
    • Brunet, Joan;
    • Navarro, Matilde;
    • Blanco, Ignacio;
    • Capellá, Gabriel
    Publication type:
    Article

  • Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation.

    Published in:
    Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0762-6
    By:
    • Dámaso, Estela;
    • Canet-Hermida, Júlia;
    • Vargas-Parra, Gardenia;
    • Velasco, Àngela;
    • Marín, Fátima;
    • Darder, Esther;
    • del Valle, Jesús;
    • Fernández, Anna;
    • Izquierdo, Àngel;
    • Mateu, Gemma;
    • Oliveras, Glòria;
    • Escribano, Carmen;
    • Piñol, Virgínia;
    • Uchima, Hugo-Ikuo;
    • Soto, José Luis;
    • Hitchins, Megan;
    • Farrés, Ramon;
    • Lázaro, Conxi;
    • Queralt, Bernat;
    • Brunet, Joan
    Publication type:
    Article

  • Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.

    Published in:
    Cancers, 2020, v. 12, n. 7, p. 1799, doi. 10.3390/cancers12071799
    By:
    • Dámaso, Estela;
    • González-Acosta, Maribel;
    • Vargas-Parra, Gardenia;
    • Navarro, Matilde;
    • Balmaña, Judith;
    • Ramon y Cajal, Teresa;
    • Tuset, Noemí;
    • Thompson, Bryony A.;
    • Marín, Fátima;
    • Fernández, Anna;
    • Gómez, Carolina;
    • Velasco, Àngela;
    • Solanes, Ares;
    • Iglesias, Sílvia;
    • Urgel, Gisela;
    • López, Consol;
    • del Valle, Jesús;
    • Campos, Olga;
    • Santacana, Maria;
    • Matias-Guiu, Xavier
    Publication type:
    Article

  • Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.

    Published in:
    Cancers, 2020, v. 12, n. 4, p. 829, doi. 10.3390/cancers12040829
    By:
    • del Valle, Jesús;
    • Rofes, Paula;
    • Moreno-Cabrera, José Marcos;
    • López-Dóriga, Adriana;
    • Belhadj, Sami;
    • Vargas-Parra, Gardenia;
    • Teulé, Àlex;
    • Cuesta, Raquel;
    • Muñoz, Xavier;
    • Campos, Olga;
    • Salinas, Mónica;
    • de Cid, Rafael;
    • Brunet, Joan;
    • González, Sara;
    • Capellá, Gabriel;
    • Pineda, Marta;
    • Feliubadaló, Lídia;
    • Lázaro, Conxi
    Publication type:
    Article

  • Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2128, doi. 10.1002/humu.24110
    By:
    • Vargas‐Parra, Gardenia;
    • Valle, Jesús;
    • Rofes, Paula;
    • Gausachs, Mireia;
    • Stradella, Agostina;
    • Moreno‐Cabrera, José M.;
    • Velasco, Angela;
    • Tornero, Eva;
    • Menéndez, Mireia;
    • Muñoz, Xavier;
    • Iglesias, Silvia;
    • López‐Doriga, Adriana;
    • Azuara, Daniel;
    • Campos, Olga;
    • Cuesta, Raquel;
    • Darder, Esther;
    • Cid, Rafael;
    • González, Sara;
    • Teulé, Alex;
    • Navarro, Matilde
    Publication type:
    Article

  • Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19.

    Published in:
    Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.719115
    By:
    • Solanich, Xavier;
    • Vargas-Parra, Gardenia;
    • van der Made, Caspar I.;
    • Simons, Annet;
    • Schuurs-Hoeijmakers, Janneke;
    • Antolí, Arnau;
    • del Valle, Jesús;
    • Rocamora-Blanch, Gemma;
    • Setién, Fernando;
    • Esteller, Manel;
    • van Reijmersdal, Simon V.;
    • Riera-Mestre, Antoni;
    • Sabater-Riera, Joan;
    • Capellá, Gabriel;
    • van de Veerdonk, Frank L.;
    • van der Hoven, Ben;
    • Corbella, Xavier;
    • Hoischen, Alexander;
    • Lázaro, Conxi
    Publication type:
    Article

  • Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

    Published in:
    International Journal of Cancer, 2017, v. 141, n. 7, p. 1365, doi. 10.1002/ijc.30820
    By:
    • Vargas‐Parra, Gardenia M.;
    • González‐Acosta, Maribel;
    • Thompson, Bryony A.;
    • Gómez, Carolina;
    • Fernández, Anna;
    • Dámaso, Estela;
    • Pons, Tirso;
    • Morak, Monika;
    • del Valle, Jesús;
    • Iglesias, Silvia;
    • Velasco, Àngela;
    • Solanes, Ares;
    • Sanjuan, Xavier;
    • Padilla, Natàlia;
    • de la Cruz, Xavier;
    • Valencia, Alfonso;
    • Holinski‐Feder, Elke;
    • Brunet, Joan;
    • Feliubadaló, Lídia;
    • Lázaro, Conxi
    Publication type:
    Article