نتائج البحث - "Capellá, Gabriel"

1

دورية أكاديمية

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTEN-hamartoma-tumor syndrome

المؤلفون: Gonzalez-Abuin, Noemi, Pons, Tirso, Fuster, Teresa, Quintana, Isabel, Terradas, Mariona, Aiza, Gemma, Brunet, Joan, Capellá, Gabriel, Hampel, Heather, Valle, Laura

المساهمون: Eno Scientific Foundation, Instituto de Salud Carlos III, H2020, Ministerio de Ciencia e Innovación, Fundación Científica Asociación Española Contra el Cáncer, Agencia Estatal de Investigación, Generalitat de Catalunya, H2020 Marie Skłodowska-Curie Actions, Agència de Gestió d'Ajuts Universitaris i de Recerca, Federación Española de Enfermedades Raras

المصدر: Genes & Diseases ; volume 11, issue 2, page 524-527 ; ISSN 2352-3042

مصطلحات موضوعية: Cell Biology, Genetics (clinical), Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.gendis.2023.03.011Test
https://api.elsevier.com/content/article/PII:S2352304223001241?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352304223001241?httpAccept=text/plainTest

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2

دورية أكاديمية

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

المؤلفون: Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoen, Peter A. C.’t, Vissers, Lisenka E. L. M., Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, te Paske, Iris, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Yaou, Rabah Ben, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Abbott, Kristin M., Frederikse, Wilhemina SKerstjens, Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Rooryck, Caroline, Lacombe, Didier, Trimouille, Aurelien, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Beeson, David, Cossins, Judith, Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Chinnery, Patrick F., Ratnaike, Thiloka, Gao, Fei, Schon, Katherine, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Başak, Ayşe Nazlı, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Claeys, Kristl, Santen, Gijs W. E., Bijlsma, Emilia K., Hoffer, Mariette J. V., Ruivenkamp, Claudia A. L., Boztug, Kaan, Haimel, Matthias, Maystadt, Isabelle, Cordts, Isabelle, Deschauer, Marcus, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Depienne, Christel, Roos, Andreas, May, Patrick, Solve-RD consortium, missing

المصدر: HUMAN GENOMICS ; ISSN: 1473-9542 ; ISSN: 1479-7364

مصطلحات موضوعية: Medicine and Health Sciences, Drug Discovery, Genetics, Molecular Biology, Molecular Medicine, Uniformity of coverage, Genome sequencing, Exome sequencing

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01HFC7VW3TWS9Z2PHX8T24WF53Test; http://hdl.handle.net/1854/LU-01HFC7VW3TWS9Z2PHX8T24WF53Test; http://doi.org/10.1186/s40246-023-00485-5Test; https://biblio.ugent.be/publication/01HFC7VW3TWS9Z2PHX8T24WF53/file/01HFV5C3EJ6BM02FF0TJ8N06P4Test

الإتاحة: https://doi.org/10.1186/s40246-023-00485-5Test
https://biblio.ugent.be/publication/01HFC7VW3TWS9Z2PHX8T24WF53Test
http://hdl.handle.net/1854/LU-01HFC7VW3TWS9Z2PHX8T24WF53Test
https://biblio.ugent.be/publication/01HFC7VW3TWS9Z2PHX8T24WF53/file/01HFV5C3EJ6BM02FF0TJ8N06P4Test

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3

دورية أكاديمية

Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

المؤلفون: Mur, Pilar, Viana-Errasti, Julen, García-Mulero, Sandra, Magraner-Pardo, Lorena, Muñoz, Inés G., Pons, Tirso, Capellá, Gabriel, Pineda, Marta, Feliubadaló, Lidia, Valle, Laura

المساهمون: Agencia Estatal de Investigación, Instituto de Salud Carlos III, Agència de Gestió d'Ajuts Universitaris i de Recerca, Generalitat de Catalunya

المصدر: Genome Medicine ; volume 15, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-023-01234-yTest

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4

دورية أكاديمية

Wnt genes in colonic polyposis predisposition

المساهمون: Generalitat de Catalunya, Federación Española de Enfermedades Raras, Agència de Gestió d'Ajuts Universitaris i de Recerca, European Cooperation in Science and Technology, Fundación Científica Asociación Española Contra el Cáncer, Horizon 2020, H2020 Marie Skłodowska-Curie Actions, Agencia Estatal de Investigación, Eno Scientific Foundation, H2020, European Commission Marie Sklodowska-Curie Actions, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación

المصدر: Genes & Diseases ; volume 10, issue 3, page 753-757 ; ISSN 2352-3042

مصطلحات موضوعية: Cell Biology, Genetics (clinical), Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.gendis.2022.12.002Test
https://api.elsevier.com/content/article/PII:S2352304222003257?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352304222003257?httpAccept=text/plainTest

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5

دورية أكاديمية

CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools

المؤلفون: Moreno-Cabrera, José Marcos, del Valle, Jesús, Castellanos, Elisabeth, Feliubadaló, Lidia, Pineda, Marta, Serra, Eduard, Capellá, Gabriel, Lázaro, Conxi, Gel, Bernat

المساهمون: Robinson, Peter, Carlos III Health Institute, Government of Catalonia, CERCA, CIBERONC

المصدر: Bioinformatics ; volume 37, issue 22, page 4227-4229 ; ISSN 1367-4803 1367-4811

مصطلحات موضوعية: Computational Mathematics, Computational Theory and Mathematics, Computer Science Applications, Molecular Biology, Biochemistry, Statistics and Probability

الإتاحة: https://doi.org/10.1093/bioinformatics/btab356Test
https://academic.oup.com/bioinformatics/article-pdf/37/22/4227/50335189/btab356.pdfTest

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6

دورية أكاديمية

Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation

المساهمون: Spanish Ministry of Economy and Competitiveness cofunded by FEDER funds, CIBERONC, Spanish Association Against Cancer, Government of Catalonia, The Mexican National Council for Science and Technology (CONACyT) fellowship, Catalonia Health Department, CERCA Generalitat de Catalunya

المصدر: Clinical Epigenetics ; volume 11, issue 1 ; ISSN 1868-7075 1868-7083

مصطلحات موضوعية: Genetics (clinical), Developmental Biology, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1186/s13148-019-0762-6Test

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7

دورية أكاديمية

Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition

المؤلفون: Bonjoch, Laia, Mur, Pilar, Arnau-Collell, Coral, Vargas-Parra, Gardenia, Shamloo, Bahar, Franch-Expósito, Sebastià, Pineda, Marta, Capellà, Gabriel, Erman, Batu, Castellví-Bel, Sergi

المساهمون: the European Regional Development Fund (ERDF), Agència de Gestió d'Ajuts Universitaris i de Recerca, Generalitat de Catalunya, PERIS, Fundación Científica de la Asociación Española Contra el Cáncer, Spanish Ministry of Economy and Competitiveness, FEDER, Juan de la Cierva postdoctoral, Instituto de Salud Carlos III, European Cooperation in Science and Technology

المصدر: Molecular Aspects of Medicine ; volume 69, page 27-40 ; ISSN 0098-2997

مصطلحات موضوعية: Clinical Biochemistry, Molecular Biology, Molecular Medicine, General Medicine, Biochemistry

الإتاحة: https://doi.org/10.1016/j.mam.2019.03.004Test
https://api.elsevier.com/content/article/PII:S0098299719300068?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0098299719300068?httpAccept=text/plainTest

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8

دورية أكاديمية

KRAS phosphorylation regulates cell polarization and tumorigenic properties in colorectal cancer

المؤلفون: Cabot, Débora, Brun, Sònia, Paco, Noelia, Ginesta, Mireia M., Gendrau-Sanclemente, Núria, Abuasaker, Baraa, Ruiz-Fariña, Triana, Barceló, Carles, Cuatrecasas, Miriam, Bosch, Marta, Rentero, Carles, Pons, Gabriel, Estanyol, Josep M., Capellà, Gabriel, Jaumot, Montserrat, Agell, Neus

المساهمون: Ministerio de Economía, Industria y Competitividad, Gobierno de España, Ministry of Economy and Competitiveness | Instituto de Salud Carlos III

المصدر: Oncogene ; volume 40, issue 38, page 5730-5740 ; ISSN 0950-9232 1476-5594

مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1038/s41388-021-01967-3Test
https://www.nature.com/articles/s41388-021-01967-3.pdfTest
https://www.nature.com/articles/s41388-021-01967-3Test

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