Browsing by Author Lázaro García, Conxi
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| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Sep-2019 | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification | Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadaló i Elorza, Maria Lídia; Aalfs, Cora M.; Agata, Simona; Aittomäki, Kristiina; Alducci, Elisa; Alonso Cerezo, María Concepción; Hauke, Jan; Heinrich, Tilman; Törngren, Therese; Hellebrand, Heide; Arnold, Norbert; Seggewiß, Jochen; Caldés, Trinidad; Herold, Karen N.; Honisch, Ellen; Naldi, Nadia; Witzel, Isabell; Walters, Rhiannon J.; Rump, Andreas; Horvath, Judit; Poplawski, Nicola K.; Velasco, Àngela; Houdayer, Claude; Brunet, Joan; Cini, Giulia; Hübbel, Verena; Iglesias, Silvia; Wöckel, Achim; Steinemann, Doris; Izquierdo, Angel; Barbieri, Elena; Wang Gohrke, Shan; James, Paul A.; Carnevali, Ileana; Torres Esquius, Sara; Janssen, Linda A.M.; Jeschke, Udo; Kruse, Torben A.; Kölbl, Alexandra; Ledig, Susanne; Cops, Elisa J.; Vesper, Anne Sophie; Kaulfuß, Silke; Porfirio, Berardino; Auber, Bernd; Weber, Bernhard H. F.; Leinert, Elena; Rofes, Paula; Bruzzone, Carla; Woodward, Emma R.; Matricardi, Laura; Solanes, Ares; Carrasco, Estela; Mackelenbergh, Marion T.; Waha, Anke; Nathanson, Katherine L.; Tucker, Katherine M.; Bucksch, Karolin; Navarro, Matilde; Faust, Ulrike; Bonanni, Bernardo; González, Sara; Nevanlinna, Heli; Nichols, Cassandra B.; Cortesi, Laura; Wiesmüller, Lisa; Niederacher, Dieter; Vreeswijk, Maaike P. G.; Caux Moncoutier, Virginie; Nielsen, Henriette R.; Giesecke, Jutta; Hackmann, Karl; Azzollini, Jacopo; Ong, Kai Ren; Pachter, Nicholas; Galvao, Henrique C.R.; Couch, Fergus J.; Palmero, Edenir I.; Guerrieri Gonzaga, Aliana; Cagnoli, Giulia; Papi, Laura; Asperen, Christi J.; Pohl Rescigno, Esther; Ramser, Juliane; Cavalli, Pietro; Pedersen, Inge Søkilde; Wagner, Sebastian A.; Felbor, Ute; Darder, Esther; Reis, Rui M.; Wieland, Kerstin; Gismondi, Viviana; Blümcke, Britta; Zachariae, Silke; Calvello, Mariarosaria; Stiller, Mathias; Bartram, Claus R.; Feroce, Irene; Stoppa Lyonnet, Dominique; Keupp, Katharina; Hoya, Miguel; Lucci Cordisco, Emanuela; Sullivan, Kelly J.; Susman, Rachel; Zampiga, Valentina; Guillaud Bataille, Marine; Concolino, Paola; Sutter, Christian; Caliebe, Almuth; Gómez, Carolina; Tavtigian, Sean V.; Lewis, Alexandra L.; Montagna, Marco; Teo, Soo H.; Teulé, Alex; Debatin, Irmgard; Thomassen, Mads; Kvist, Anders; Gutiérrez Enríquez, Sara; Tibiletti, Maria Grazia; Meindl, Alfons; Fine, Miriam; Tischkowitz, Marc; Blanco, Ana; Toss, Angela; Varesco, Liliana; Montes, Eva; Garcia, Encarna B.; Tognazzo, Silvia; Caligo, Maria A.; Kiechle, Marion; Haaf, Thomas; Vargas Parra, Gardenía María; Clarke, Edward M.; Lim, Joanna; Bonache, Sandra; Dean, Michael; Michelli, Rodrigo D.; Gensini, Francesca; Gross, Eva; Zeder Göß, Christine; Gambino, Gaetana; Loeffler, Markus; Investigators, Kconfab; Peissel, Bernard; Rivera, Daniela; Lázaro García, Conxi; Nicolo, Arcangela; Mori, Luigi; Harris, Marion; Radice, Paolo; Grau Garcés, Èlia; Moghadasi, Setareh; Engel, Christoph; Revillion, Françoise; Krieger, Sophie; Schmutzler, Rita K.; Goldgar, David E.; Balmaña, Judith; Austin, Rachel; Borg, Åke; Salinas, Monica; López Fernández, Adrià; Spurdle, Amanda B.; Gehrig, Andrea; Capone, Gabriele L.; Moles Fernández, Alejandro; Bortesi, Beatrice; Grill, Sabine; Pérez Segura, Pedro; Moserle, Lidia; Caputo, Sandrine M.; Hansen, Thomas V.O.; Rhiem, Kerstin; Lattimore, Vanessa L.; Marabelli, Monica; Del Valle, Jesús; Lalloo, Fiona; Pfeifer, Katharina; Delnatte, Capucine; Toland, Amanda E.; Müller, Clemens R.; Viel, Alessandra; Derive, Nicolas; Diez, Orland; Sánchez de Abajo, Ana María; Monteiro, Alvaro N.; Ditsch, Nina; Maass, Nicolai; Riboli, Barbara; Domchek, Susan M.; Varon-Mateeva, Raymonda; Weichert, Wilko; Dutrannoy, Véronique; Eccles, Diana; Ehrencrona, Hans; Trainer, Alison H.; Schmidt, Gunnar; Enders, Ute; Walker, Logan C.; Pineda Riu, Marta; Evans, D. Gareth; Larsen, Mirjam; Foulkes, William D.; Gerdes, Anne Marie; Ritter, Julia; Farra, Chantal; Manoukian, Siranoush; Tornero, Eva; Schoenwiese, Ulrike; Germani, Aldo; Montalban, Gemma; Vega, Ana; Lautrup, Charlotte; Mundhenke, Christoph; Quante, Anne S. |
| 3-Feb-2014 | Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer | Seguí Gracia, Nuria; Guinó, Elisabet; Pineda Riu, Marta; Navarro, Matilde; Bellido Molías, Fernando; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Moreno Aguado, Víctor; Capellá, G. (Gabriel); Valle Velasco, Laura |
| 25-Jan-2012 | MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study | Gausachs Romero, Mireia; Mur, Pilar; Corral, Julieta; Pineda Riu, Marta; González, Sara; Benito-Aracil, Llúcia; Menéndez Vilà, Mireia; Espinàs Piñol, Josep Alfons; Brunet, Joan; Iniesta, María Dolores; Gruber, Stephen B.; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Capellá, G. (Gabriel) |
| 7-Apr-2022 | Modification of BRCA1-associated breast cancer risk by HMMR overexpression | Mateo, Francesca; He, Zhengcheng; Mei, Lin; Ruiz de Garibay, Gorka; Herranz, Carmen; García, Nadia; Lorentzian, Amanda; Baiges, Alexandra; Blommaert, Eline; Gómez, Antonio; Mirallas, Oriol; Garrido Utrilla, Anna; Palomero, Luis; Espín, Roderic; Extremera, Ana I.; Soler Monsó, M. Teresa; Petit, Anna; Li, Rong; Brunet, Joan; Chen, Ke; Tan, Susanna; Eaves, Connie J.; Mccloskey, Curtis; Hakem, Razq; Khokha, Rama; Lange, Philipp F.; Lázaro García, Conxi; Maxwell, Christopher A.; Pujana, Miquel Angel |
| 1-Feb-2020 | Mutational Screening of BRCA1/2 Genes as a Predictive Factor for Therapeutic Response in Epithelial Ovarian Cancer: A Consensus Guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH) | Palacios, J.; Hoya, M. de la; Bellosillo, B.; Juan, I. de; Matias-Guiu, Xavier; Lázaro García, Conxi; Palanca, S.; Osorio, Ana; Rojo, F.; Rosa Rosa, J. M.; Cigudosa, Juan Cruz |
| Feb-2020 | Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspition of RASopathy and children with multiple café-au-lait macules | Castellanos, Elisabeth; Rosas, Inma; Negro, Alex; Gel Moreno, Bernat; Alibés, Andreu; Baena, Neus; Pineda Marfà, Mercè; Pi, Graciela; Pintos, Guillem; Salvador, Hector; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Vilageliu i Arqués, Lluïsa; Brems, Hilde; Grinberg Vaisman, Daniel Raúl; Legius, Eric; Serra Arenas, Eduard |
| Apr-2016 | Mutations in JMJD1C are involved in Rett syndrome and intellectual disability | Sáez, Mauricio A.; Fernández Rodríguez, Juana; Moutinho, Cátia; Sanchez-Mut, Jose Vicente; Gómez, Antonio; Vidal, Enrique; Petazzi, Paolo; Szczesna, Karolina; López Serra, Paula; Lucariello, Mario; Lorden, Patricia; Delgado-Morales, Raul; Caridad, Olga J. de la; Huertas, Dori; Gelpí Buchaca, Josep Lluís; Orozco López, Modesto; López Dóriga Guerra, Adriana; Milà i Recasens, Montserrat; Pérez Jurado, Luis; Pineda, Mercedes; Armstrong i Morón, Judith; Lázaro García, Conxi; Esteller, Manel |
| 1-Jun-2012 | Neurofibromatosis tipo 2: La historia de Lidia | Solanes, Ares; Lázaro García, Conxi; Castellanos, Elisabeth; Serra Arenas, Eduard; Blanco Guillermo, Ignacio |
| 21-Jun-2019 | NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas | Belhadj, Sami; Quintana, Isabel; Mur, Pilar; Munoz-Torres, Pau M.; Alonso Aguado, Maria Henar; Navarro, Matilde; Terradas, Mariona; Pinol, Virginia; Brunet, Joan; Moreno Aguado, Víctor; Lázaro García, Conxi; Capellá, G. (Gabriel); Valle Velasco, Laura |
| 17-Jan-2012 | Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers | Lázaro García, Conxi; Blanco Guillermo, Ignacio; Tornero, Eva; Navarro, Matilde; CIMBA Consortium |
| 1-Oct-2020 | Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants | Brunet, Joan; Izquierdo i Font, Àngel Xavier; Lázaro García, Conxi; Pujana Genestar, M. Ángel; GEMO Study Collaborators; EMBRACE Collaborators; KConFab Investigators; HEBON Investigators; GENEPSO Investigators |
| 17-Jan-2019 | POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas | Calvete, Oriol; Garcia Pavia, Pablo; Dominguez, Fernando; Mosteiro, Lluc; Pérez Cabornero, Lucía; Cantalapiedra, Diego; Zorio, Esther; Ramón y Cajal, Teresa; Crespo Leiro, María G.; Teulé-Vega, Àlex; Lázaro García, Conxi; Morente, Manuel M.; Urioste, Miguel; Benitez, Javier |
| Oct-2018 | Primary constitutional MLH1 epimutations: a focal epigenetic event | Dámaso, Estela; Castillejo, Adela; Arias, María del Mar; Canet Hermida, Júlia; Navarro, Matilde; Valle Domínguez, Jesús del; Campos, Olga; Fernández, Anna; Marín, Fátima; Turchetti, Daniela; García Díaz, Juan de Dios; Lázaro García, Conxi; Genuardi, Maurizio; Rueda, Daniel; Alonso, Ángel; Soto, Jose Luis; Hitchins, Megan; Pineda Riu, Marta; Capellá, G. (Gabriel) |
| 7-Jun-2021 | RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants | Bueno Martínez, Elena; Sanoguera Miralles, Lara; Valenzuela Palomo, Alberto; Lorca, Víctor; Gómez Sanz, Alicia; Carvalho, Sara; Allen, Jamie; Infante, Mar; Pérez Segura, Pedro; Lázaro García, Conxi; Easton, Douglas F.; Devilee, Peter; Vreeswijk, Maaike P. G.; Hoya, Miguel de la; Velasco, Eladio A. |
| 12-Feb-2019 | Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas | Carrió, Meritxell; Mazuelas, Helena; Richaud-Patin, Yvonne; Gel, Bernat; Terribas, Ernest; Rosas, Imma; Jimenez Delgado, Senda; Biayna, Josep; Vendredy, Leen; Blanco Guillermo, Ignacio; Castellanos, Elisabeth; Lázaro García, Conxi; Raya Chamorro, Ángel; Serra, Eduard |
| 14-Aug-2020 | Role of POLE and POLD1 in familial cancer | Mur, Pilar; García Mulero, Sandra; Valle, Jesús del; Magraner Pardo, Lorena; Vidal-Bel, August; Pineda Riu, Marta; Cinnirella, Giacomo; Martín Ramos, Edgar; Pons, Tirso; López Dóriga Guerra, Adriana; Belhadj, Sami; Feliubadaló i Elorza, Maria Lídia; Muñoz Torres, Pau M.; Navarro, Matilde; Grau Garcés, Èlia; Darder, Esther; Llort, Gemma; Sanz, Judit; Ramón y Cajal, Teresa; Balmaña, Judith; Brunet, Joan; Moreno Aguado, Víctor; Piulats, Josep M.; Matias-Guiu, Xavier; Sanz Pamplona, Rebeca; Aligué i Alemany, Rosa Maria; Capellá, G. (Gabriel); Lázaro García, Conxi; Valle, Laura |
| 8-Feb-2016 | Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis | Mur, Pilar; Sánchez Cuartielles, Elena; Aussó, Susanna; Aiza, Gemma; Valdés Mas, Rafael; Pineda Riu, Marta; Navarro, Matilde; Brunet, Joan; Urioste, Miguel; Lázaro García, Conxi; Moreno Aguado, Víctor; Capellá, G. (Gabriel); Puente, Xose S.; Valle Velasco, Laura |
| 24-Jan-2015 | Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb | Castellanos, Elisabeth; Bielsa, Isabel; Carrato, Cristina; Rosas, Inma; Solanes, Ares; Hostalot, Cristina; Amilibia, Emilio; Prades, José; Roca Ribas, Francesc; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Serra Arenas, Eduard; NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC |
| 5-Feb-2016 | Síndrome de cáncer de mama y ovario hereditario: Estudio in vitro de variantes BRCA1 y BRCA2 de significado biológico desconocido y búsqueda de nuevos genes responsables de este síndrome | Quiles Vidal, Francisco de Asís |
| 2-Jun-2014 | SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints | Vogt, Julia; Bengesser, Kathrin; Claes, Kathleen B. M.; Wimmer, Katharina; Mautner, Victor-Felix; van Minkelen, Rick; Legius, Eric; Brems, Hilde; Upadhyaya, Meena; Högel, Josef; Lázaro García, Conxi; Rosenbaum, Thorsten; Bammert, Simone; Messiaen, Ludwine M.; Cooper, David N.; Kehrer-Sawatzki, Hildegard |