Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation
Rodríguez–Soler, María, Pérez–Carbonell, Lucía, Guarinos, Carla, Zapater, Pedro, Castillejo, Adela, Barberá, Victor M, Juárez, Miriam, Bessa, Xavier, Xicola, Rosa M, Clofent, Juan, Bujanda, Luis, Balaguer, Francesc, Reñé, Josep–Maria, de–Castro, Luisa, Marín–Gabriel, José C, Lanas, Angel, Cubiella, Joaquín, Nicolás–Pérez, David, Brea–Fernández, Alejandro, Castellví–Bel, Sergi, Alenda, Cristina, Ruiz–Ponte, Clara, Carracedo, Angel, Castells, Antoni, Andreu, Montserrat, Llor, Xavier, Soto, José L, Payá, Artemio, Jover, Rodrigo
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2013)
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2013)
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Comparison of the ABC and ACMG systems for variant classification
Houge, Gunnar, Bratland, Eirik, Aukrust, Ingvild, Tveten, Kristian, Žukauskaitė, Gabrielė, Sansovic, Ivona, Brea-Fernández, Alejandro J, Mayer, Karin, Paakkola, Teija, McKenna, Caoimhe, Wright, William, Markovic, Milica Keckarevic, Lildballe, Dorte L, Konecny, Michal, Smol, Thomas, Alhopuro, Pia, Gouttenoire, Estelle Arnaud, Obeid, Katharina, Todorova, Albena, Jankovic, Milena, Lubieniecka, Joanna M, Stojiljkovic, Maja, Buisine, Marie-Pierre, Haukanes, Bjørn Ivar, Lorans, Marie, Roomere, Hanno, Petit, François M, Haanpää, Maria K, Beneteau, Claire, Pérez, Belén, Plaseska-Karanfilska, Dijana, Rath, Matthias, Fuhrmann, Nico, Ferreira, Bibiana I, Stephanou, Coralea, Sjursen, Wenche, Maver, Aleš, Rouzier, Cécile, Chirita-Emandi, Adela, Gonçalves, João, Kuek, Wei Cheng David, Broly, Martin, Haer-Wigman, Lonneke, Thong, Meow-Keong, Tae, Sok-Kun, Hyblova, Michaela, den Dunnen, Johan T, Laner, Andreas
Published in European journal of human genetics : EJHG (22.05.2024)
Published in European journal of human genetics : EJHG (22.05.2024)
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Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish cohort
Fernández-Rozadilla, Ceres, de Castro, Luisa, Clofent, Juan, Brea-Fernández, Alejandro, Bessa, Xavier, Abulí, Anna, Andreu, Montserrat, Jover, Rodrigo, Xicola, Rosa, Llor, Xavier, Castells, Antoni, Castellví-Bel, Sergi, Carracedo, Angel, Ruiz-Ponte, Clara
Published in PloS one (09.09.2010)
Published in PloS one (09.09.2010)
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Germline Mutations in PALB2 , BRCA1 , and RAD51C , Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer
Sahasrabudhe, Ruta, Lott, Paul, Bohorquez, Mabel, Toal, Ted, Estrada, Ana P, Suarez, John J, Brea-Fernández, Alejandro, Cameselle-Teijeiro, José, Pinto, Carla, Ramos, Irma, Mantilla, Alejandra, Prieto, Rodrigo, Corvalan, Alejandro, Norero, Enrique, Alvarez, Carolina, Tapia, Teresa, Carvallo, Pilar, Gonzalez, Luz M, Cock-Rada, Alicia, Solano, Angela, Neffa, Florencia, Della Valle, Adriana, Yau, Chris, Soares, Gabriela, Borowsky, Alexander, Hu, Nan, He, Li-Ji, Han, Xiao-You, Taylor, Philip R, Goldstein, Alisa M, Torres, Javier, Echeverry, Magdalena, Ruiz-Ponte, Clara, Teixeira, Manuel R, Carvajal-Carmona, Luis G
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2017)
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2017)
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Developmental epileptic encephalopathy in DLG4‐related synaptopathy
Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo‐Serrano, Angel, Ananth, Amitha L., Brea‐Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé‐Pichon, Anne‐Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández‐Jaén, Alberto, Fernández‐Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil‐Nagel, Antonio, Gómez‐Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah‐Politi, Anya, Rheims, Sylvain, Rodríguez‐Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido
Published in Epilepsia (Copenhagen) (01.04.2024)
Published in Epilepsia (Copenhagen) (01.04.2024)
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Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
Brea-Fernández, Alejandro J, Álvarez-Barona, Miriam, Amigo, Jorge, Tubío-Fungueiriño, María, Caamaño, Pilar, Fernández-Prieto, Montserrat, Barros, Francisco, De Rubeis, Silvia, Buxbaum, Joseph, Carracedo, Ángel
Published in European journal of human genetics : EJHG (01.08.2022)
Published in European journal of human genetics : EJHG (01.08.2022)
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The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer
Esteban-Jurado, Clara, Franch-Expósito, Sebastià, Muñoz, Jenifer, Ocaña, Teresa, Carballal, Sabela, López-Cerón, Maria, Cuatrecasas, Miriam, Vila-Casadesús, Maria, Lozano, Juan José, Serra, Enric, Beltran, Sergi, Brea-Fernández, Alejandro, Ruiz-Ponte, Clara, Castells, Antoni, Bujanda, Luis, Garre, Pilar, Caldés, Trinidad, Cubiella, Joaquín, Balaguer, Francesc, Castellví-Bel, Sergi
Published in European journal of human genetics : EJHG (01.10.2016)
Published in European journal of human genetics : EJHG (01.10.2016)
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Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders
Brea-Fernández, Alejandro J, Souto-Trinei, Federica A, Iglesias, Elba, Caamaño, Pilar, Rodríguez Sánchez, Berta, Gómez Lado, Carmen, Eiris, Jesús, Fernández-Prieto, Montse, Barros, Francisco, Brea, Roberto J, Carracedo, Ángel
Published in Cytogenetic and genome research (2023)
Published in Cytogenetic and genome research (2023)
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Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Castillejo, Adela, Hernández-Illán, Eva, Rodriguez-Soler, María, Pérez-Carbonell, Lucía, Egoavil, Cecilia, Barberá, Victor M, Castillejo, María-Isabel, Guarinos, Carla, Martínez-de-Dueñas, Eduardo, Juan, María-Jose, Sánchez-Heras, Ana-Beatriz, García-Casado, Zaida, Ruiz-Ponte, Clara, Brea-Fernández, Alejandro, Juárez, Miriam, Bujanda, Luis, Clofent, Juan, Llor, Xavier, Andreu, Montserrat, Castells, Antoni, Carracedo, Angel, Alenda, Cristina, Payá, Artemio, Jover, Rodrigo, Soto, José-Luis
Published in Journal of medical genetics (01.07.2015)
Published in Journal of medical genetics (01.07.2015)
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A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
Fernandez-Rozadilla, Ceres, Cazier, Jean-Baptiste, Tomlinson, Ian P, Carvajal-Carmona, Luis G, Palles, Claire, Lamas, María J, Baiget, Montserrat, López-Fernández, Luis A, Brea-Fernández, Alejandro, Abulí, Anna, Bujanda, Luis, Clofent, Juan, Gonzalez, Dolors, Xicola, Rosa, Andreu, Montserrat, Bessa, Xavier, Jover, Rodrigo, Llor, Xavier, Moreno, Víctor, Castells, Antoni, Carracedo, Ángel, Castellvi-Bel, Sergi, Ruiz-Ponte, Clara
Published in BMC genomics (26.01.2013)
Published in BMC genomics (26.01.2013)
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Pharmacogenomics of CRC treatments: putting bricks on the path to personalized medicine
Fernández-Rozadilla, Ceres, Balboa, Emilia, Rasool, Mahmood, Barros, Francisco, Castells, Antoni, Castellvi-Bel, Sergi, Brea-Fernández, Alejandro, Ruiz-Ponte, Clara, Carracedo, Angel
Published in BMC genomics (02.04.2014)
Published in BMC genomics (02.04.2014)
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Colorectal Cancer Susceptibility Quantitative Trait Loci in Mice as a Novel Approach to Detect Low-Penetrance Variants in Humans: A Two-Stage Case-Control Study
FERNANDEZ-ROZADILLA, Ceres, TARRIO, Rosa, LLOR, Xavier, CASTELLS, Antoni, CASTELLVI-BEL, Sergi, CARRACEDO, Angel, RUIZ-PONTE, Clara, CLOFENT, Juan, DE CASTRO, Luisa, BREA-FERNANDEZ, Alejandro, BESSA, Xavier, ABULI, Anna, ANDREU, Montserrat, JOVER, Rodrigo, XICOLA, Rosa
Published in Cancer epidemiology, biomarkers & prevention (01.02.2010)
Published in Cancer epidemiology, biomarkers & prevention (01.02.2010)
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Vaginal tubulovillous adenoma: a clinicopathologic and molecular study with review of the literature
Peña-Fernández, Maite, Abdulkader-Nallib, Ihab, Novo-Domínguez, Alejandro, Turrado-Sánchez, Elena M, Brea-Fernández, Alejandro, Sebio-Lago, Laura, Ruíz-Ponte, Clara, Cameselle-Teijeiro, José
Published in International journal of gynecological pathology (01.01.2013)
Published in International journal of gynecological pathology (01.01.2013)
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Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience
Castellví-Bel, Sergi, Ruiz-Ponte, Clara, Fernández-Rozadilla, Ceres, Abulí, Anna, Muñoz, Jenifer, Bessa, Xavier, Brea-Fernández, Alejandro, Ferro, Marta, Giráldez, María Dolores, Xicola, Rosa M., Llor, Xavier, Jover, Rodrigo, Piqué, Josep M., Andreu, Montserrat, Castells, Antoni, Carracedo, Angel
Published in Mutagenesis (01.03.2012)
Published in Mutagenesis (01.03.2012)
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M, Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A, Yuskaitis, Christopher J, Salussolia, Catherine L, Ebrahimi-Fakhari, Daniel, Pearson, Toni S, Saffari, Afshin, Ziegler, Andreas, Kölker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R, Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O, Shukla, Anju, Dubey Gupta, Rachana, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R, Kremlikova Pourova, Radka, Sadek, Abdelrahim A, Elkhateeb, Nour M, Blumkin, Lubov, Brea-Fernández, Alejandro J, Dacruz-Álvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C, Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P, Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S, Mahmoud, Adel A H, Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C, Brock, Stefanie, Roubertie, Agathe, Darras, Basil T, Agrawal, Pankaj B, Santorelli, Filippo M, Gleeson, Joseph, Zaki, Maha S, Sheikh, Sarah I, Bennett, James T, Sahin, Mustafa
Published in Brain (London, England : 1878) (01.10.2020)
Published in Brain (London, England : 1878) (01.10.2020)
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Abstract LB-158: Germline mutations in PALB2 , BRCA1 and RAD51C observed in gastric cancer cases
Sahasrabudhe, Ruta, Lott, Paul, Bohorquez, Mabel, Toal, Ted, Estrada, Ana, Suarez, John, Brea-Fernández, Alejandro, Cameselle-Teijeiro, Jose, Pinto, Carla, Ramos, Irma, Mantilla, Alejandra, Prieto, Rodrigo, Corvalan, Alejandro, Norero, Enrique, Alvarez, Carolina, Tapia, Teresa, Carvallo, Pilar, Gonzalez, Luz, Cock-Rada, Alicia, Solano, Angela, Neffa, Florencia, Valle, Adriana Della, Yau, Chris, Soares, Gabriela, Borowsky, Alexander, Han, Xiao-You, He, Li-JI, Taylor, Phillip, Goldstein, Alisa, Hu, Nan, Torres, Javier, Echeverry, Magdalena, Ruiz-Ponte, Clara, Teixeira, Manuel, Carvajal-Carmona, Luis G.
Published in Cancer research (Chicago, Ill.) (01.07.2017)
Published in Cancer research (Chicago, Ill.) (01.07.2017)
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Journal Article
A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
Fernández-Rozadilla, Ceres, Cazier, Jean-Baptiste, Tomlinson, Ian P, Carvajal-Carmona, Luis G, Palles, Claire, Lamas, María J, Baiget Bastús, Montserrat, López-Fernández, Luis A, Brea-Fernández, Alejandro, Abulí, Anna, Bujanda, Luis, Clofent, Juan, Gonzalez, Dolors, Xicola, Rosa, Andreu, Montserrat, Bessa i Caserras, Xavier, Jover, Rodrigo, Llor, Xavier, Moreno Aguado, Víctor, Castells Garangou, Antoni, Carracedo Álvarez, Ángel, Castellví-Bel, Sergi, Ruiz-Ponte, Clara
Published in BMC genomics (26.01.2013)
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Published in BMC genomics (26.01.2013)
Journal Article
Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a Spanish population
Fernández-Rozadilla, Ceres, Castro, Luisa de, Clofent, Juan, Brea-Fernández, Alejandro, Bessa i Caserras, Xavier, Abulí, Anna, Andreu, Montserrat, Jover, Rodrigo, Xicola, Rosa, Llor, Xavier, Castells Garangou, Antoni, Castellví-Bel, Sergi, Carracedo Álvarez, Ángel, Ruiz-Ponte, Clara, Gastrointestinal Oncology Group of the Spanish Gas
Published in PloS one (09.09.2010)
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Published in PloS one (09.09.2010)
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