Sökresultat - Cascón, Alberto
- Visas 1 - 19 av 19 resultat
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Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation av Espinosa, Marta, Roldán-Romero, Juan Maria, Duran, Ignacio, de Álava, Enrique, Apellaniz-Ruiz, María, Cascón, Alberto, Garrigos, Carmen, Robledo, Mercedes, Rodriguez-Antona, Cristina
Publicerad 2018Text -
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Pathological and genetic characterization of bilateral adrenomedullary hyperplasia in a patient with germline MAX mutation av Romanet, Pauline, Guerin, Carole, Pedini, Pascal, Essamet, Wassim, Castinetti, Frédéric, Sebag, Fréderic, Roche, Philippe, Cascon, Alberto, Tischler, Arthur S., Pacak, Karel, Barlier, Anne, Taïeb, David
Publicerad 2017Text -
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Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma av Margetts, Caroline D E, Morris, Mark, Astuti, Dewi, Gentle, Dean C, Cascon, Alberto, McRonald, Fiona E, Catchpoole, Daniel, Robledo, Mercedes, Neumann, Hartmut P H, Latif, Farida, Maher, Eamonn R
Publicerad 2008Text -
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A Novel Approach for the Identification of Pharmacogenetic Variants in MT-RNR1 through Next-Generation Sequencing Off-Target Data av Lanillos, Javier, Santos, María, Carcajona, Marta, Roldan-Romero, Juan María, Martinez, Angel M., Calsina, Bruna, Monteagudo, María, Leandro-García, Luis Javier, Montero-Conde, Cristina, Cascón, Alberto, Maietta, Paolo, Alvarez, Sara, Robledo, Mercedes, Rodriguez-Antona, Cristina
Publicerad 2020Text -
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Regulatory Polymorphisms in β-Tubulin IIa Are Associated with Paclitaxel-Induced Peripheral Neuropathy av Leandro-García, Luis J., Leskelä, Susanna, Jara, Carlos, Gréen, Henrik, Åvall-Lundqvist, Elisabeth, Wheeler, Heather E., Dolan, M. Eileen, Inglada-Perez, Lucia, Maliszewska, Agnieszka, de Cubas, Aguirre A., Comino-Méndez, Iñaki, Mancikova, Veronika, Cascón, Alberto, Robledo, Mercedes, Rodríguez-Antona, Cristina
Publicerad 2012Text -
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Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma av Mellid, Sara, Coloma, Javier, Calsina, Bruna, Monteagudo, María, Roldán-Romero, Juan M., Santos, María, Leandro-García, Luis J., Lanillos, Javier, Martínez-Montes, Ángel M., Rodríguez-Antona, Cristina, Montero-Conde, Cristina, Martínez-López, Joaquín, Ayala, Rosa, Matias-Guiu, Xavier, Robledo, Mercedes, Cascón, Alberto
Publicerad 2020Text -
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Metabolome-guided genomics to identify mutations in isocitrate dehydrogenase, fumarate hydratase and succinate dehydrogenase genes in pheochromocytoma and paraganglioma av Richter, Susan, Gieldon, Laura, Pang, Ying, Peitzsch, Mirko, Huynh, Thanh, Leton, Rocio, Viana, Bruna, Ercolino, Tonino, Mangelis, Anastasios, Rapizzi, Elena, Menschikowski, Mario, Aust, Daniela, Kroiss, Matthias, Beuschlein, Felix, Gudziol, Volker, Timmers, Henri JLM, Lenders, Jacques, Mannelli, Massimo, Cascon, Alberto, Pacak, Karel, Robledo, Mercedes, Eisenhofer, Graeme, Klink, Barbara
Publicerad 2018Text -
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International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma av Ben Aim, Laurene, Maher, Eamonn R, Cascon, Alberto, Barlier, Anne, Giraud, Sophie, Ercolino, Tonino, Pigny, Pascal, Clifton-Bligh, Roderick J, Mirebeau-Prunier, Delphine, Mohamed, Amira, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Schiavi, Francesca, Toledo, Rodrigo A, Dahia, Patricia L, Robledo, Mercedes, Bayley, Jean Pierre, Burnichon, Nelly
Publicerad 2022Text -
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Concomitant Medications and Risk of Chemotherapy‐Induced Peripheral Neuropathy av Sánchez‐Barroso, Lara, Apellaniz‐Ruiz, Maria, Gutiérrez‐Gutiérrez, Gerardo, Santos, María, Roldán‐Romero, Juan M., Curras, Maria, Remacha, Laura, Calsina, Bruna, Calvo, Isabel, Sereno, María, Merino, María, García‐Donas, Jesús, Castelo, Beatriz, Guerra, Eva, Letón, Rocio, Montero‐Conde, Cristina, Cascón, Alberto, Inglada‐Pérez, Lucía, Robledo, Mercedes, Rodríguez‐Antona, Cristina
Publicerad 2018Text -
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Head and Neck Paragangliomas in Von Hippel-Lindau Disease and Multiple Endocrine Neoplasia Type 2 av Boedeker, Carsten C., Erlic, Zoran, Richard, Stéphane, Kontny, Udo, Gimenez-Roqueplo, Anne-Paule, Cascon, Alberto, Robledo, Mercedes, de Campos, José M., van Nederveen, Francien H., de Krijger, Ronald R., Burnichon, Nelly, Gaal, José, Walter, Martin A., Reschke, Kirsten, Wiech, Thorsten, Weber, Johannes, Rückauer, Klaus, Plouin, Pierre Francois, Darrouzet, Vincent, Giraud, Sophie, Eng, Charis, Neumann, Hartmut P. H.
Publicerad 2009Text -
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Research Resource: Transcriptional Profiling Reveals Different Pseudohypoxic Signatures in SDHB and VHL-Related Pheochromocytomas av López-Jiménez, Elena, Gómez-López, Gonzalo, Leandro-García, L. Javier, Muñoz, Iván, Schiavi, Francesca, Montero-Conde, Cristina, de Cubas, Aguirre A., Ramires, Ricardo, Landa, Iñigo, Leskelä, Susanna, Maliszewska, Agnieszka, Inglada-Pérez, Lucía, de la Vega, Leticia, Rodríguez-Antona, Cristina, Letón, Rocío, Bernal, Carmen, de Campos, José M., Diez-Tascón, Cristina, Fraga, Mario F., Boullosa, Cesar, Pisano, David G., Opocher, Giuseppe, Robledo, Mercedes, Cascón, Alberto
Publicerad 2010Text -
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Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas av Remacha, Laura, Pirman, David, Mahoney, Christopher E., Coloma, Javier, Calsina, Bruna, Currás-Freixes, Maria, Letón, Rocío, Torres-Pérez, Rafael, Richter, Susan, Pita, Guillermo, Herráez, Belén, Cianchetta, Giovanni, Honrado, Emiliano, Maestre, Lorena, Urioste, Miguel, Aller, Javier, García-Uriarte, Óscar, Gálvez, María Ángeles, Luque, Raúl M., Lahera, Marcos, Moreno-Rengel, Cristina, Eisenhofer, Graeme, Montero-Conde, Cristina, Rodríguez-Antona, Cristina, Llorca, Óscar, Smolen, Gromoslaw A., Robledo, Mercedes, Cascón, Alberto
Publicerad 2019Text -
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Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas av Remacha, Laura, Pirman, David, Mahoney, Christopher E., Coloma, Javier, Calsina, Bruna, Currás-Freixes, Maria, Letón, Rocío, Torres-Pérez, Rafael, Richter, Susan, Pita, Guillermo, Herráez, Belén, Cianchetta, Giovanni, Honrado, Emiliano, Maestre, Lorena, Urioste, Miguel, Aller, Javier, García-Uriarte, Óscar, Gálvez, María Ángeles, Luque, Raúl M., Lahera, Marcos, Moreno-Rengel, Cristina, Eisenhofer, Graeme, Montero-Conde, Cristina, Rodríguez-Antona, Cristina, Llorca, Óscar, Smolen, Gromoslaw A., Robledo, Mercedes, Cascón, Alberto
Publicerad 2019Text -
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Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients av Calsina, Bruna, Currás-Freixes, Maria, Buffet, Alexandre, Pons, Tirso, Contreras, Laura, Letón, Rocío, Méndez, Iñaki Comino, Remacha, Laura, Calatayud, María, Obispo, Berta, Martin, Antoine, Cohen, Regis, Richter, Susan, Balmaña, Judith, Korpershoek, Esther, Rapizzi, Elena, Deutschbein, Timo, Vroonen, Laurent, Favier, Judith, de Krijger, Ronald R., Fassnacht, Martin, Beuschlein, Felix, Timmers, Henri J., Eisenhofer, Graeme, Mannelli, Massimo, Pacak, Karel, Satrústegui, Jorgina, Rodríguez-Antona, Cristina, Amar, Laurence, Cascón, Alberto, Dölker, Nicole, Gimenez-Roqueplo, Anne-Paule, Robledo, Mercedes
Publicerad 2018Text -
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Analysis of Telomere Maintenance Related Genes Reveals NOP10 as a New Metastatic-Risk Marker in Pheochromocytoma/Paraganglioma av Monteagudo, María, Martínez, Paula, Leandro-García, Luis J., Martínez-Montes, Ángel M., Calsina, Bruna, Pulgarín-Alfaro, Marta, Díaz-Talavera, Alberto, Mellid, Sara, Letón, Rocío, Gil, Eduardo, Pérez-Martínez, Manuel, Megías, Diego, Torres-Ruiz, Raúl, Rodriguez-Perales, Sandra, González, Patricia, Caleiras, Eduardo, Jiménez-Villa, Scherezade, Roncador, Giovanna, Álvarez-Escolá, Cristina, Regojo, Rita M., Calatayud, María, Guadalix, Sonsoles, Currás-Freixes, Maria, Rapizzi, Elena, Canu, Letizia, Nölting, Svenja, Remde, Hanna, Fassnacht, Martin, Bechmann, Nicole, Eisenhofer, Graeme, Mannelli, Massimo, Beuschlein, Felix, Quinkler, Marcus, Rodríguez-Antona, Cristina, Cascón, Alberto, Blasco, María A., Montero-Conde, Cristina, Robledo, Mercedes
Publicerad 2021Text -
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PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics av Currás-Freixes, Maria, Piñeiro-Yañez, Elena, Montero-Conde, Cristina, Apellániz-Ruiz, María, Calsina, Bruna, Mancikova, Veronika, Remacha, Laura, Richter, Susan, Ercolino, Tonino, Rogowski-Lehmann, Natalie, Deutschbein, Timo, Calatayud, María, Guadalix, Sonsoles, Álvarez-Escolá, Cristina, Lamas, Cristina, Aller, Javier, Sastre-Marcos, Julia, Lázaro, Conxi, Galofré, Juan C., Patiño-García, Ana, Meoro-Avilés, Amparo, Balmaña-Gelpi, Judith, De Miguel-Novoa, Paz, Balbín, Milagros, Matías-Guiu, Xavier, Letón, Rocío, Inglada-Pérez, Lucía, Torres-Pérez, Rafael, Roldán-Romero, Juan M., Rodríguez-Antona, Cristina, Fliedner, Stephanie M.J., Opocher, Giuseppe, Pacak, Karel, Korpershoek, Esther, de Krijger, Ronald R., Vroonen, Laurent, Mannelli, Massimo, Fassnacht, Martin, Beuschlein, Felix, Eisenhofer, Graeme, Cascón, Alberto, Al-Shahrour, Fátima, Robledo, Mercedes
Publicerad 2017Text -
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Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma av Calsina, Bruna, Castro-Vega, Luis Jaime, Torres-Pérez, Rafael, Inglada-Pérez, Lucía, Currás-Freixes, Maria, Roldán-Romero, Juan María, Mancikova, Veronika, Letón, Rocío, Remacha, Laura, Santos, María, Burnichon, Nelly, Lussey-Lepoutre, Charlotte, Rapizzi, Elena, Graña, Osvaldo, Álvarez-Escolá, Cristina, de Cubas, Aguirre A, Lanillos, Javier, Cordero-Barreal, Alfonso, Martínez-Montes, Ángel M, Bellucci, Alexandre, Amar, Laurence, Fernandes-Rosa, Fabio Luiz, Calatayud, María, Aller, Javier, Lamas, Cristina, Sastre-Marcos, Júlia, Canu, Letizia, Korpershoek, Esther, Timmers, Henri J, Lenders, Jacques WM, Beuschlein, Felix, Fassnacht-Capeller, Martin, Eisenhofer, Graeme, Mannelli, Massimo, Al-Shahrour, Fátima, Favier, Judith, Rodríguez-Antona, Cristina, Cascón, Alberto, Montero-Conde, Cristina, Gimenez-Roqueplo, Anne-Paule, Robledo, Mercedes
Publicerad 2019Text