Browsing by Author Lázaro García, Conxi

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Issue DateTitleAuthor(s)
25-Jan-2012MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness studyGausachs 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-2022Modification of BRCA1-associated breast cancer risk by HMMR overexpressionMateo, 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-2020Mutational 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-2020Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspition of RASopathy and children with multiple café-au-lait maculesCastellanos, 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-2016Mutations in JMJD1C are involved in Rett syndrome and intellectual disabilitySáez, 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-2012Neurofibromatosis tipo 2: La historia de LidiaSolanes, Ares; Lázaro García, Conxi; Castellanos, Elisabeth; Serra Arenas, Eduard; Blanco Guillermo, Ignacio
21-Jun-2019NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomasBelhadj, 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-2012Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriersLázaro García, Conxi; Blanco Guillermo, Ignacio; Tornero, Eva; Navarro, Matilde; CIMBA Consortium
1-Oct-2020Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variantsBrunet, 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-2019POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac AngiosarcomasCalvete, 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-2018Primary constitutional MLH1 epimutations: a focal epigenetic eventDámaso, 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-2021RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA VariantsBueno 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-2019Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform NeurofibromasCarrió, 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-2020Role of POLE and POLD1 in familial cancerMur, 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-2016Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposisMur, 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-2015Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limbCastellanos, 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-2016Síndrome 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 síndromeQuiles Vidal, Francisco de Asís
2-Jun-2014SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpointsVogt, 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
17-Apr-2013Telomere length and genetic anticipation in lynch syndromeSeguí Gracia, Nuria; Pineda Riu, Marta; Guinó, Elisabet; Borràs Flores, Ester; Navarro, Matilde; Bellido Molías, Fernando; Moreno Aguado, Víctor; Lázaro García, Conxi; Blanco Guillermo, Ignacio; Capellá, G. (Gabriel); Valle Velasco, Laura
1-Nov-2019The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancerFiglioli, Gisella; Lázaro García, Conxi; Pujana Genestar, M. Ángel; ABCTB Investigators; GEMO Study Collaborators; KConFab Investigators