Browsing by Author Serra Arenas, Eduard

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Showing results 1 to 15 of 15
Issue DateTitleAuthor(s)
4-Jan-2017A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscapeCastellanos, Elisabeth; Gel, Bernat; Rosas, Inma; Tornero, Eva; Santín, Sheila; Pluvinet Ortega, Raquel; Velasco, Juan; Sumoy, Lauro; Valle Domínguez, Jesús del; Perucho, Manuel; Blanco Guillermo, Ignacio; Navarro, Matilde; Brunet, Joan; Pineda Riu, Marta; Feliubadaló i Elorza, Maria Lídia; Capellá, G. (Gabriel); Lázaro García, Conxi; Serra Arenas, Eduard
Jul-2011A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicismFernández-Rodríguez, Juana; Castellsagué, Joan; Benito-Aracil, Llúcia; Benavente, Yolanda; Capellá, G. (Gabriel); Blanco Guillermo, Ignacio; Serra Arenas, Eduard; Lázaro García, Conxi
15-Aug-2012Applying Microsatellite Multiplex PCR Analysis (MMPA) for Determining Allele Copy-Number Status and Percentage of Normal Cells within TumorsGarcia Linares, Carles; Mercadé, Jaume; Gel, Bernat; Biayna, Josep; Terribas Pérez, Ernest; Lázaro García, Conxi; Serra Arenas, Eduard
4-Jan-2017Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary CancerFeliubadaló i Elorza, Maria Lídia; Tonda, Raul; Gausachs Romero, Mireia; Trotta, Jean Rémi; Castellanos, Elisabeth; López Dóriga Guerra, Adriana; Teulé-Vega, Àlex; Tornero, Eva; Valle Domínguez, Jesús del; Gel, Bernat; Gut, Marta; Pineda Riu, Marta; González, Sara; Menéndez Vilà, Mireia; Navarro, Matilde; Capellá, G. (Gabriel); Gut, Ivo G.; Serra Arenas, Eduard; Brunet, Joan; Beltran i Agulló, Sergi; Lázaro García, Conxi
13-May-2021CNVfilteR: an R/bioconductor package to identify false positives produced by germline NGS CNV detection tools.Moreno Cabrera, José Marcos; Valle, Jesús del; Castellanos, Elisabeth; Feliubadaló i Elorza, Maria Lídia; Pineda Riu, Marta; Serra Arenas, Eduard; Capellá Gabriel; Lázaro, Conxi; Gel, Bernat
25-Mar-2015Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicineCastellsagué, Joan; Gel, Bernat; Fernández Rodríguez, Juana; Llatjós, Roger; Blanco Guillermo, Ignacio; Benavente, Yolanda; Pérez Sidelnikova, Diana; García del Muro Solans, Xavier; Viñals, Joan Maria; Vidal-Bel, August; Valdés Mas, Rafael; Terribas Pérez, Ernest; López Dóriga Guerra, Adriana; Pujana Genestar, M. Ángel; Capellá, G. (Gabriel); Puente, Xose S.; Serra Arenas, Eduard; Villanueva Garatachea, Alberto; Lázaro García, Conxi
13-Dec-2012Finding genes related to homologous recombination as modifiers of the number of dermal neurofibromas in neurofibromatosis type 1 patients / Estudi sobre la implicació dels gens de recombinació homòloga com a modificadors del nombre de neurofibromes dèrmics en pacients amb Neurofibromatosi tipus 1Garcia Linares, Carles
1-Jul-2009Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as A biomarker and survival geneMiller, Shyra J.; Jessen, Walter J.; Mehta, Tapan; Hardiman, Atira; Sites, Emily; Kaiser, Sergio; Jegga, Anil G.; Li, Hua; Upadhyaya, Meena; Giovannini, Marco; Muir, David; Wallace, Margaret R.; López, Eva; Serra Arenas, Eduard; Nielsen, G. Petur; Lázaro García, Conxi; Stemmer-Rachamimov, Anat; Page, Grier; Aronow, Bruce J.; Ratner, Nancy
1-Feb-2022Modeling iPSC-derived human neurofibroma-like tumors in mice uncovers the heterogeneity of Schwann cells within plexiform neurofibromasMazuelas, Helena; Magallón Lorenz, Míriam; Fernández Rodríguez, Juana; Uriarte Arrazola, Itziar; Richaud Patin, Yvonne; Terribas, Ernest; Villanueva Garatachea, Alberto; Castellanos, Elisabeth; Blanco Guillermo, Ignacio; Raya Chamorro, Ángel; Chojnacki, Jakub; Heyn, Holger; Romagosa Pérez-Portabella, Cleofé; Lázaro, Conxi; Gel, Bernat; Carrió, Meritxell; Serra Arenas, Eduard
28-Jan-2021Modeling neurofibromatosis type1 neurofibroma composition and formationMazuelas Gallego, Helena
20-Jan-2016Molecular characterization of neurofibromatosis type 1–associated malignant peripheral nerve sheath tumours and functional identification of genes involved in their pathogenesisTerribas Pérez, Ernest
1-Oct-2019Mutational 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
1-Jun-2012Neurofibromatosis tipo 2: La historia de LidiaSolanes, Ares; Lázaro García, Conxi; Castellanos, Elisabeth; Serra Arenas, Eduard; Blanco Guillermo, Ignacio
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
22-Jan-2016Using Phosphorodiamidate Morpholino Oligomers (PMOs) to characterize the role of neurofibromin in cell physiologyBiayna, Josep