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1دورية أكاديمية
المؤلفون: Dueñas, Nuria, Klinkhammer, Hannah, Bonifaci Cano, Núria, Spier, Isabel, Mayr, Andreas, Hassanin, Emadeldin, Díez Villanueva, Anna, Moreno Aguado, Víctor, Pineda, Marta, Maj, Carlo, Capellà, Gabriel, Aretz, Stefan, Brunet, Joan
المصدر: Articles publicats en revistes (Ciències Clíniques)
مصطلحات موضوعية: Càncer colorectal, Malalties hereditàries, Malalties neonatals, Colorectal cancer, Genetic diseases, Neonatal diseases
وصف الملف: 28 p.; application/pdf
العلاقة: Versió postprint del document publicat a: https://doi.org/10.1136/jmg-2023-109344Test; Journal of Medical Genetics, 2023, vol. 60, num.11, p. 1044-1051; https://doi.org/10.1136/jmg-2023-109344Test; http://hdl.handle.net/2445/209225Test; 742558
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2دورية أكاديمية
المؤلفون: Valle, Laura, Katz, Lior H., Latchford, Andrew, Mur, Pilar, Moreno, Victor, Frayling, Ian M., Heald, Brandie, Capellá, Gabriel
المصدر: Journal of Medical Genetics; Nov2023, Vol. 60 Issue 11, p1035-1043, 9p
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3دورية أكاديمية
المؤلفون: Arnau Collell, Coral, Soares de Lima, Yasmin, Díaz Gay, Marcos, Muñoz, Jenifer, Carballal, Sabela, Bonjoch, Laia, Moreira, Leticia, Lozano, Juan José, Ocaña, Teresa, Cuatrecasas, Miriam, Díaz de Bustamante, Aranzazu, Castells, Antoni, Capella, Gabriel, Bujanda Fernández de Pierola, Luis, Cubiella, Joaquín, Rodríguez Alcalde, Daniel, Balaguer, Francesc, Ruiz Ponte, Clara, Valle, Laura, Moreno, Víctor, Castellví Bel, Sergi
المساهمون: European Commission
مصطلحات موضوعية: serrated polyposis syndrome, colorectal cancer, genetic association study, low-penetrance genetic variant, genetic predisposition to disease, germline RNF43 mutations, loci
العلاقة: info:eu-repo/grantAgreement/EC/H2020/713673; info:eu-repo/grantAgreement/MICIU/SAF2016-80888-R; https://jmg.bmj.com/content/57/10/677.longTest; Journal Of Medical Genetics 57(10) : 677-682 (2020); http://hdl.handle.net/10810/50192Test
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4دورية أكاديمية
المؤلفون: González-Acosta, Maribel, Marín, Fátima, Puliafito, Benjamin, Bonifaci, Nuria, Fernández, Anna, Navarro, Matilde, Salvador, Hector, Balaguer, Francesc, Iglesias, Silvia, Velasco, Angela, Grau Garces, Elia, Moreno, Victor, Gonzalez-Granado, Luis Ignacio, Guerra-García, Pilar, Ayala, Rosa, Florkin, Benoit, Kratz, Christian, Ripperger, Tim, Rosenbaum, Thorsten, Januszkiewicz-Lewandowska, Danuta, Azizi, Amedeo A., Ragab, Iman, Nathrath, Michaela, Pander, Hans-Jürgen, Lobitz, Stephan, Suerink, Manon, Dahan, Karin, Imschweiler, Thomas, Demirsoy, Ugur, Brunet, Joan, Lázaro, Conxi, Rueda, Daniel, Wimmer, Katharina, Capellá, Gabriel, Pineda, Marta
المصدر: Journal of Medical Genetics, 57 (4), 269-273 (2020)
مصطلحات موضوعية: Adolescent, Adult, Brain Neoplasms/blood/genetics/pathology, Child, Preschool, Colorectal Neoplasms/blood/genetics/pathology, Colorectal Neoplasms, Hereditary Nonpolyposis/blood/genetics/pathology, DNA Mismatch Repair/genetics, DNA-Binding Proteins/genetics, Female, Germ-Line Mutation/genetics, Heterozygote, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Microsatellite Instability, MutS Homolog 2 Protein/genetics, Neoplastic Syndromes, Hereditary/blood/genetics/pathology, Young Adult, constitutional mismatch repair deficiency, highly sensitive methodologies, lynch syndrome, next generation sequencing, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques
العلاقة: urn:issn:0022-2593; urn:issn:1468-6244; https://orbi.uliege.be/handle/2268/266477Test; info:hdl:2268/266477; https://orbi.uliege.be/bitstream/2268/266477/1/269.full.pdfTest; scopus-id:2-s2.0-85072087698; info:pmid:31494577
الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106272Test
https://orbi.uliege.be/handle/2268/266477Test
https://orbi.uliege.be/bitstream/2268/266477/1/269.full.pdfTest -
5دورية أكاديمية
المؤلفون: Stradella, Agostina, Valle, Jesús del, Rofes, Paula, Feliubadaló, Lídia, Grau Garces, Èlia, Velasco, Àngela, González, Sara, Vargas Parra, Gardenia, Izquierdo i Font, Àngel Xavier, Campos, Olga, Tornero, Eva, Navarro, Matilde, Balmaña Gelpi, Judith, Capellá, Gabriel, Pineda, Marta, Brunet i Vidal, Joan, Lázaro, Conxi
المصدر: Journal of Medical Genetics, 2019, vol. 56, p. 521-525 ; Articles publicats (D-CM)
مصطلحات موضوعية: Càncer -- Aspectes genètics, Cancer -- Genetic aspects
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/issn/0022-2593; info:eu-repo/semantics/altIdentifier/eissn/1468-6244; http://hdl.handle.net/10256/18160Test
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6دورية أكاديمية
المؤلفون: Møller, Pål, Seppälä, Toni T., Bernstein, Inge, Holinski-Feder, Elke, Sala, Paulo, Evans, D. Gareth, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf H., Jeffries, Jacqueline, Vasen, Hans F. A., Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H., Hill, James, Wijnen, Juul T., Jenkins, Mark A., Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Valentin, Mev Dominguez, Frayling, Ian M., Plazzer, John-Paul, Pylvanainen, Kirsi, Genuardi, Maurizio, Mecklin, Jukka-Pekka, Moeslein, Gabriela, Sampson, Julian R., Capella, Gabriel
مصطلحات موضوعية: R Medicine (General)
وصف الملف: application/pdf
العلاقة: https://orca.cardiff.ac.uk/id/eprint/103123/1/gutjnl-2017-314057.full.pdfTest; Møller, Pål, Seppälä, Toni T., Bernstein, Inge, Holinski-Feder, Elke, Sala, Paulo, Evans, D. Gareth, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf H., Jeffries, Jacqueline, Vasen, Hans F. A., Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H., Hill, James, Wijnen, Juul T., Jenkins, Mark A., Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Valentin, Mev Dominguez, Frayling, Ian M. https://orca.cardiff.ac.uk/view/cardiffauthors/A378259U.htmlTest, Plazzer, John-Paul, Pylvanainen, Kirsi, Genuardi, Maurizio, Mecklin, Jukka-Pekka, Moeslein, Gabriela, Sampson, Julian R. https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.htmlTest orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348 and Capella, Gabriel 2018. Cancer risk and survival in path _ MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database. Gut 67 (7) , pp. 1306-1316. 10.1136/gutjnl-2017-314057 https://doi.org/10.1136/gutjnl-2017-314057Test file https://orca.cardiff.ac.uk/id/eprint/103123/1/gutjnl-2017-314057.full.pdfTest
الإتاحة: https://doi.org/10.1136/gutjnl-2017-314057Test
https://orca.cardiff.ac.uk/id/eprint/103123Test/
https://orca.cardiff.ac.uk/id/eprint/103123/1/gutjnl-2017-314057.full.pdfTest -
7دورية أكاديمية
المؤلفون: Møller, Pål, Seppälä, Toni, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, Evans, D. Gareth, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf, Jeffries, Jacqueline, Vasen, Hans, Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H., Hill, James, Wijnen, Juul, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Frayling, Ian M., Plazzer, John-Paul, Pylvanainen, Kirsi, Sampson, Julian R., Capella, Gabriel, Mecklin, Jukka-Pekka, Möslein, Gabriela
مصطلحات موضوعية: RC0254 Neoplasms. Tumors. Oncology (including Cancer)
وصف الملف: application/pdf
العلاقة: https://orca.cardiff.ac.uk/id/eprint/83816/1/Gut-2015-M%C3%B8ller-gutjnl-2015-309675.pdfTest; Møller, Pål, Seppälä, Toni, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, Evans, D. Gareth, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf, Jeffries, Jacqueline, Vasen, Hans, Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H., Hill, James, Wijnen, Juul, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Frayling, Ian M. https://orca.cardiff.ac.uk/view/cardiffauthors/A378259U.htmlTest, Plazzer, John-Paul, Pylvanainen, Kirsi, Sampson, Julian R. https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.htmlTest orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348, Capella, Gabriel, Mecklin, Jukka-Pekka and Möslein, Gabriela 2017. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut 66 (3) , pp. 464-472. 10.1136/gutjnl-2015-309675 https://doi.org/10.1136/gutjnl-2015-309675Test file https://orca.cardiff.ac.uk/id/eprint/83816/1/Gut-2015-M%C3%B8ller-gutjnl-2015-309675.pdfTest
الإتاحة: https://doi.org/10.1136/gutjnl-2015-309675Test
https://orca.cardiff.ac.uk/id/eprint/83816Test/
https://orca.cardiff.ac.uk/id/eprint/83816/1/Gut-2015-M%C3%B8ller-gutjnl-2015-309675.pdfTest -
8دورية أكاديمية
المؤلفون: Møller, Pål, Seppälä, Toni, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, Evans, D. Gareth, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf, Jeffries, Jacqueline, Vasen, Hans, Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H., Hill, James, Wijnen, Juul, Jenkins, Mark, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Frayling, Ian M., Plazzer, John-Paul, Pylvanainen, Kirsi, Genuardi, Maurizio, Mecklin, Jukka-Pekka, Möslein, Gabriela, Sampson, Julian R., Capella, Gabriel
مصطلحات موضوعية: RC0254 Neoplasms. Tumors. Oncology (including Cancer)
وصف الملف: application/pdf
العلاقة: https://orca.cardiff.ac.uk/id/eprint/94567/1/Gut-2016-M%C3%B8ller-gutjnl-2016-311403.pdfTest; Møller, Pål, Seppälä, Toni, Bernstein, Inge, Holinski-Feder, Elke, Sala, Paola, Evans, D. Gareth, Lindblom, Annika, Macrae, Finlay, Blanco, Ignacio, Sijmons, Rolf, Jeffries, Jacqueline, Vasen, Hans, Burn, John, Nakken, Sigve, Hovig, Eivind, Rødland, Einar Andreas, Tharmaratnam, Kukatharmini, de Vos tot Nederveen Cappel, Wouter H., Hill, James, Wijnen, Juul, Jenkins, Mark, Green, Kate, Lalloo, Fiona, Sunde, Lone, Mints, Miriam, Bertario, Lucio, Pineda, Marta, Navarro, Matilde, Morak, Monika, Renkonen-Sinisalo, Laura, Frayling, Ian M. https://orca.cardiff.ac.uk/view/cardiffauthors/A378259U.htmlTest, Plazzer, John-Paul, Pylvanainen, Kirsi, Genuardi, Maurizio, Mecklin, Jukka-Pekka, Möslein, Gabriela, Sampson, Julian R. https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.htmlTest orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348 and Capella, Gabriel 2017. Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database. Gut 66 (9) , pp. 1657-1664. 10.1136/gutjnl-2016-311403 https://doi.org/10.1136/gutjnl-2016-311403Test file https://orca.cardiff.ac.uk/id/eprint/94567/1/Gut-2016-M%C3%B8ller-gutjnl-2016-311403.pdfTest
الإتاحة: https://doi.org/10.1136/gutjnl-2016-311403Test
https://orca.cardiff.ac.uk/id/eprint/94567Test/
https://orca.cardiff.ac.uk/id/eprint/94567/1/Gut-2016-M%C3%B8ller-gutjnl-2016-311403.pdfTest -
9دورية أكاديمية
المؤلفون: Vasen, Hans F. A., Blanco, Ignacio, Aktan-Collan, Katja, Gopie, Jessica P., Alonso, Angel, Aretz, Stefan, Bernstein, Inge, Bertario, Lucio, Burn, John, Capella, Gabriel, Colas, Chrystelle, Engel, Christoph, Frayling, Ian Martin, Genuardi, Maurizio, Heinimann, Karl, Hes, Frederik J., Hodgson, Shirley V., Karagiannis, John A., Lalloo, Fiona, Lindblom, Annika, Mecklin, Jukka-Pekka, Moller, Pal, Myrhoj, Torben, Nagengast, Fokko M., Parc, Yann, de Leon, Maurizio Ponz, Renkonen-Sinisalo, Laura, Sampson, Julian Roy, Stormorken, Astrid, Sijmons, Rolf H., Tejpar, Sabine, Thomas, Huw J. W., Rahner, Nils, Wijnen, Juul T., Jaervinen, Heikki Juhani, Moeslein, Gabriela
مصطلحات موضوعية: RC0254 Neoplasms. Tumors. Oncology (including Cancer)
وصف الملف: application/pdf
العلاقة: https://orca.cardiff.ac.uk/id/eprint/70062/1/gutjnl-2012-304356.pdfTest; Vasen, Hans F. A., Blanco, Ignacio, Aktan-Collan, Katja, Gopie, Jessica P., Alonso, Angel, Aretz, Stefan, Bernstein, Inge, Bertario, Lucio, Burn, John, Capella, Gabriel, Colas, Chrystelle, Engel, Christoph, Frayling, Ian Martin https://orca.cardiff.ac.uk/view/cardiffauthors/A378259U.htmlTest, Genuardi, Maurizio, Heinimann, Karl, Hes, Frederik J., Hodgson, Shirley V., Karagiannis, John A., Lalloo, Fiona, Lindblom, Annika, Mecklin, Jukka-Pekka, Moller, Pal, Myrhoj, Torben, Nagengast, Fokko M., Parc, Yann, de Leon, Maurizio Ponz, Renkonen-Sinisalo, Laura, Sampson, Julian Roy https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.htmlTest orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348, Stormorken, Astrid, Sijmons, Rolf H., Tejpar, Sabine, Thomas, Huw J. W., Rahner, Nils, Wijnen, Juul T., Jaervinen, Heikki Juhani and Moeslein, Gabriela 2013. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62 (6) , pp. 812-823. 10.1136/gutjnl-2012-304356 https://doi.org/10.1136/gutjnl-2012-304356Test file https://orca.cardiff.ac.uk/id/eprint/70062/1/gutjnl-2012-304356.pdfTest
الإتاحة: https://doi.org/10.1136/gutjnl-2012-304356Test
https://orca.cardiff.ac.uk/id/eprint/70062Test/
https://orca.cardiff.ac.uk/id/eprint/70062/1/gutjnl-2012-304356.pdfTest -
10دورية أكاديمية
المؤلفون: Vasen, Hans F A, Blanco, Ignacio, Aktan-Collan, Katja, Gopie, Jessica P, Alonso, Angel, Aretz, Stefan, Bernstein, Inge, Bertario, Lucio, Burn, John, Capella, Gabriel, Colas, Chrystelle, Engel, Christoph, Frayling, Ian M, Genuardi, Maurizio, Heinimann, Karl, Hes, Frederik J, Hodgson, Shirley V, Karagiannis, John A, Lalloo, Fiona, Lindblom, Annika, Mecklin, Jukka-Pekka, Møller, Pal, Myrhoj, Torben, Nagengast, Fokko M, Parc, Yann, Ponz de Leon, Maurizio, Renkonen-Sinisalo, Laura, Sampson, Julian R, Stormorken, Astrid, Sijmons, Rolf H, Tejpar, Sabine, Thomas, Huw J W, Rahner, Nils, Wijnen, Juul T, Järvinen, Heikki Juhani, Möslein, Gabriela, (the Mallorca group)
العلاقة: Gut vol:62 issue:6 pages:812-23; https://lirias.kuleuven.be/handle/123456789/394175Test; http://gut.bmj.com/cgi/pmidlookup?view=long&pmid=23408351Test
