المؤلفون: Capellá, Gabriel

المصدر: Contributions to science; 13-1 : june 2017; p. 33-36

وصف الملف: application/pdf

Relation: https://www.raco.cat/index.php/Contributions/article/view/351506/442704

URL الوصول: https://www.raco.cat/index.php/Contributions/article/view/351506

المؤلفون: Møller, Pål, Haupt, Saskia, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., Sunde, Lone, Seppälä, Toni, Burn, John, Bernstein, Inge, Capella, Gabriel, Evans, D. Gareth, Lindblom, Annika, Winship, Ingrid, Macrae, Finlay, Katz, Lior, Laish, Ido, Vainer, Elez, Monahan, Kevin, Half, Elizabeth, Horisberger, Karoline, da Silva, Leandro Apolinário, Heuveline, Vincent, Therkildsen, Christina, Lautrup, Charlotte, Klarskov, Louise L, Cavestro, Giulia Martina, Möslein, Gabriela, Hovig, Eivind, Dominguez-Valentin, Mev

المساهمون: Møller, Pål, Haupt, Saskia, Ahadova, Aysel, Kloor, Matthia, Sampson, Julian R., Sunde, Lone, Seppälä, Toni, Burn, John, Bernstein, Inge, Capella, Gabriel, Evans, D. Gareth, Lindblom, Annika, Winship, Ingrid, Macrae, Finlay, Katz, Lior, Laish, Ido, Vainer, Elez, Monahan, Kevin, Half, Elizabeth, Horisberger, Karoline, da Silva, Leandro Apolinário, Heuveline, Vincent, Therkildsen, Christina, Lautrup, Charlotte, Klarskov, Louise L, Cavestro, Giulia Martina, Möslein, Gabriela, Hovig, Eivind, Dominguez-Valentin, Mev

مصطلحات موضوعية: MLH1, MSH2, MSH6, PMS2, Adenoma, Colonoscopy, Colorectal, Lynch syndromes, MSI, Sojourn time, cancer, dMMR

Relation: info:eu-repo/semantics/altIdentifier/pmid/38741120; info:eu-repo/semantics/altIdentifier/wos/WOS:001221703300001; volume:22; issue:1; numberofpages:12; journal:HEREDITARY CANCER IN CLINICAL PRACTICE; https://hdl.handle.net/20.500.11768/168463

الاتاحة: https://hdl.handle.net/20.500.11768/168463
https://doi.org/10.1186/s13053-024-00279-3
https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-024-00279-3

المؤلفون: Yin, Xiaoyu, Richardson, Marcy, Laner, Andreas, Shi, Xuemei, Ognedal, Elisabet, Vasta, Valeria, Hansen, Thomas v. O., Pineda, Marta, Ritter, Deborah, de Dunnen, Johan, Hassanin, Emadeldin, Lin, Wencong Lyman, Borras, Ester, Krahn, Karl, Nordling, Margareta, Martins, Alexandra, Mahmood, Khalid, Nadeau, Emily, Beshay, Victoria, Tops, Carli, Genuardi, Maurizio, Pesaran, Tina, Frayling, Ian M., Capellá, Gabriel, Latchford, Andrew, Tavtigian, Sean V., Maj, Carlo, Plon, Sharon E., Greenblatt, Marc S., Macrae, Finlay A., Spier, Isabel, Aretz, Stefan

المصدر: Yin , X , Richardson , M , Laner , A , Shi , X , Ognedal , E , Vasta , V , Hansen , T V O , Pineda , M , Ritter , D , de Dunnen , J , Hassanin , E , Lin , W L , Borras , E , Krahn , K , Nordling , M , Martins , A , Mahmood , K , Nadeau , E , Beshay , V , Tops , C , Genuardi , M , Pesaran , T , Frayling , I M , Capellá , ....

مصطلحات موضوعية: ACMG/AMP variant classification guidelines, Adenomatous polyposis coli, APC, ClinGen, familial adenomatous polyposis, FAP, InSiGHT

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/largescale-application-of-clingeninsight-apcspecific-acmgamp-variant-classification-criteria-leads-to-substantial-reduction-in-vus(fcf21ab4-ffff-4ff2-b2a7-dea96ad99f43).html
https://doi.org/10.1016/j.ajhg.2024.09.002
https://curis.ku.dk/ws/files/411639601/1_s2.0_S0002929724003379_main.pdf

المؤلفون: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., SOLVE-RD consortium, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Sturm, Marc, Park, Joohyun, Schütz, Leon, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kellner, Melanie, Resch, Baptist, Kolen, Ingrid, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Beijer, Danique, Heutink, Peter, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Boßelmann, Christian, Kegele, Josua, Lauerer-Braun, Robert, Lauxmann, Stephan, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ’t Hoen, Peter A. C., Steyaert, Wouter, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Neveling, Kornelia, van der Sanden, Bart, Sagath, Lydia, Kleefstra, Tjitske, Brookes, Anthony J., Gibson, Spencer, Riaz, Umar, Warren, Greg, Nalagandla, Sai Anuhya, Wang, Yunze Patrick, Sukumaran, Deepthi, Abadijou, Sadegh, 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, Couturier, Victor, Gut, Ivo Glynne, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Codina, Anna Esteve, Dabad, Marc, Gut, Marta, Raineri, Emanuele, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lucano, Caterina, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Ryba, Lukáš, Lišková, Petra, Doležalová, Pavla, Krebsová, Alice, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Bellampalli, Ravishankara, Moloney, Patrick, Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Perry, Luke, Pini, Veronica, Müller, Juliane, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, de Jonghe, Peter, De Ridder, Willem, Weckhuysen, Sarah, Stamberger, Hannah, Millevert, Charissa, Smal, Noor, Nigro, Vincenzo, Morleo, Manuela, Pinelli, Michele, Banfi, Sandro, Torella, Annalaura, Zeuli, Roberta, Zanobio, Mariateresa, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Ruvolo, David, van Gijn, Marielle, Abbott, Kristin M., Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Köhler, Sebastian, Metcalfe, Alison, Moore, Richard, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Jamra, Rami Abou, Abramowicz, Marc, Kiliçarslan, Özge Aksel, Allen, Nicholas, Javier Alonso García de la Rosa, Francisco, Balestrini, Simona, Balicza, Peter, Bartolomaeus, Tobias, Başak, Ayşe Nazl, Masó, Laura Batlle, Beeson, David, Benoit, Valerie, Benson, Katherine, Sánchez, Eva Bermejo, Bijlsma, Emilia K., Bogaert, Elke, Bourbouli, Mara, Boztug, Kaan, Brohée, Sylvain, Byrne, Susan, Garcia de Oteyza, Andrés Caballero, Capella, Gabriel, Carpancea, Evelina, Cavalleri, Gianpiero, Cazurro-Gutiérrez, Ana, Chinnery, Patrick F., Cilio, Maria-Roberta, Ciolfi, Andrea, Claeys, Kristl, Colobran, Roger, Cordts, Isabell, Cossins, Judith, Dahan, Karin, Dallapiccola, Bruno, Delanty, Norman, Depienne, Christel, Depondt, Chantal, Dermaut, Bart, Deschauer, Marcus, Desir, Julie, Destrée, Anne, Drakos, Minas, Duerinckx, Sarah, Estevez, Berta, Evangeliou, Athanasios, Fallerini, Chiara, Ferilli, Marco, Furini, Simone, Gagneur, Julien, Ghani, Hamidah, Greally, Marie, Grimbacher, Bodo, Guerrini, Renzo, Hackman, Peter, Haimel, Matthias, Bouveret, Eva Hammar, Hemelsoet, Dimitri, Herzog, Rebecca, Hoffer, Mariette J. V., Holinski-Feder, Elke, Horvath, Rita, Huibers, Manon, Iacomino, Michele, Johari, Mridul, Kapaki, Elisabeth, Karadurmus, Deniz, Karakaya, Mert, Kokosali, Evgenia, Korff, Christian, Krass, Leon, Lacombe, Didier, Laner, Andreas, Leavis, Helen, Lederer, Damien, Leitão, Elsa, Lochmüller, Hanns, Martín, Estrella López, Luknárová, Rebeka, Macaya, Alfons, Malaichamy, Sivasankar, Marcé-Grau, Anna, Delgado, Beatriz Martínez, Mary, Sandrine, Masclaux, Frédéric, Mathioudakis, Lambros, Maver, Ales, MAY, Patrick, Maystadt, Isabelle, Mei, Davide, Mertes, Christian, Meunier, Colombine, Molnar, Maria Judit, Monestier, Olivier, Moortgat, Stéphanie, Münchau, Alexander, Munell, Francina, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Reghan, Mary O., Olimpio, Catarina, Parrini, Elena, Pauly, Martje, Pérez-Dueñas, Belén, Peterlin, Borut, Platzer, Konrad, Polavarapu, Kiran, Poppe, Bruce, De la Paz, Manuel Posada, Privitera, Flavia, Radio, Francesca Clementina, Ratnaike, Thiloka, Renieri, Alessandra, Riva, Antonella, Rooryck, Caroline, Roos, Andreas, Ruivenkamp, Claudia A. L., Rump, Andreas, Santen, Gijs W. E., Savarese, Marco, Scala, Marcello, Schon, Katherine, Schröck, Evelin, Scudieri, Paolo, Spilioti, Martha, Steinke-Lange, Verena, Striano, Pasquale, Sznajer, Yves, Tartaglia, Marco, Thompson, Rachel, Trimouille, Aurelien, Udd, Bjarne, Uva, Paolo, Valle, Laura, van der Veken, Lars, van Heurck, Roxane, van Montfrans, Joris, Van Nieuwenhove, Erika, Verdin, Hannah, Webb, David, Wirth, Brunhilde, Yépez, Vicente A., Zaganas, Ioannis, Zara, Federico, Zguro, Kristina, Laurie, Steven

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: npj Genomic Medicine, 9 (1) (2024-10-26)

مصطلحات موضوعية: CNVs, Exome sequencing, Rare diseases, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.nature.com/articles/s41525-024-00436-6.pdf; urn:issn:2056-7944; https://orbilu.uni.lu/handle/10993/62319; info:hdl:10993/62319; https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/62319
https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf
https://doi.org/10.1038/s41525-024-00436-6

المؤلفون: Fernández, Agustín F., Assenov, Yassen, Martín Subero, José Ignacio, Balint, Balazs, Siebert, Reiner, Taniguchi, Hiroaki, Yamamoto, Hiroyuki, Hidalgo Medina, Manuel., Tan, Aik-Choon, Galm, Oliver, Ferrer Abizanda, Isidre, Sánchez Céspedes, Montse, Villanueva, Alberto, Carmona, Javier, Sánchez-Mut, José V., Berdasco, Maria, Moreno, Victor, Capella, Gabriel, Monk, David, Ballestar, Esteban, Ropero, Santiago, Martínez, Ramón, Sánchez-Carbayo, Marta, Prósper Cardoso, Felipe, Agirre, Xabier, Fraga, Mario F., Graña, Osvaldo, Pérez-Jurado, Luis, Mora, Jaume, Puig, Susana, Prat, Jaime, Badimón, Lina, Puca, Annibale A., Meltzer, Stephen J., Lengauer, Thomas, Bridgewater, John, Bock, Christoph, Esteller, Manel

المساهمون: Universidad San Pablo-CEU. Facultad de Medicina. Departamento de Ciencias Médicas Básicas, Grupo: Enfermedades inmunológicas inflamatorias (ALLERGY)

مصطلحات موضوعية: Cell line, DNA methylation, Cluster analysis, Epigenomics

وصف الملف: application/pdf

Relation: Genome Research; European Grants CANCERDIP HEALTH-F2-2007-200620, LSHG-CT-2006-018739-ESTOOLS, LSHCCT- 2006-037297- MCSCs; Fondo de Investigaciones Sanitarias Grant PI08-1345; Consolider Grant MEC09-05; Spanish Ministry of Education and Science (SAF2009-07319); Fernandez AF, Assenov Y, Martin-Subero JI, Balint B, Siebert R, Taniguchi H, Yamamoto H, Hidalgo M, Tan AC, Galm O, Ferrer I, Sanchez-Cespedes M, Villanueva A, Carmona J, Sanchez-Mut JV, Berdasco M, Moreno V, Capella G, Monk D, Ballestar E, Ropero S, Martinez R, Sanchez-Carbayo M, Prosper F, Agirre X, Fraga MF, Graña O, Perez-Jurado L, Mora J, Puig S, Prat J, Badimon L, Puca AA, Meltzer SJ, Lengauer T, Bridgewater J, Bock C, Esteller M. A DNA methylation fingerprint of 1628 human samples. Genome Res. 2012 Feb;22(2):407-19. doi:10.1101/gr.119867.110. Epub 2011 May 25. PMID: 21613409; PMCID: PMC3266047; http://hdl.handle.net/10637/15256

الاتاحة: http://hdl.handle.net/10637/15256
https://doi.org/10.1101/gr.119867.110

المؤلفون: Spier, Isabel, Yin, Xiaoyu, Richardson, Marcy, Pineda, Marta, Laner, Andreas, Ritter, Deborah, Boyle, Julie, Mur, Pilar, Hansen, Thomas v O., Shi, Xuemei, Mahmood, Khalid, Plazzer, John-Paul, Ognedal, Elisabet, Nordling, Margareta, Farrington, Susan M., Yamamoto, Gou, Baert-Desurmont, Stéphanie, Martins, Alexandra, Borras, Ester, Tops, Carli, Webb, Erica, Beshay, Victoria, Genuardi, Maurizio, Pesaran, Tina, Capellá, Gabriel, Tavtigian, Sean V., Latchford, Andrew, Frayling, Ian M., Plon, Sharon E., Greenblatt, Marc, Macrae, Finlay A., Aretz, Stefan

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/166142/1/Gene-specific%20ACMG%20AMP%20classification%20criteria.pdf; Spier, Isabel, Yin, Xiaoyu, Richardson, Marcy, Pineda, Marta, Laner, Andreas, Ritter, Deborah, Boyle, Julie, Mur, Pilar, Hansen, Thomas v O., Shi, Xuemei, Mahmood, Khalid, Plazzer, John-Paul, Ognedal, Elisabet, Nordling, Margareta, Farrington, Susan M., Yamamoto, Gou, Baert-Desurmont, Stéphanie, Martins, Alexandra, Borras, Ester, Tops, Carli, Webb, Erica, Beshay, Victoria, Genuardi, Maurizio, Pesaran, Tina, Capellá, Gabriel, Tavtigian, Sean V., Latchford, Andrew, Frayling, Ian M. https://orca.cardiff.ac.uk/view/cardiffauthors/A378259U.html, Plon, Sharon E., Greenblatt, Marc, Macrae, Finlay A. and Aretz, Stefan 2024. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genetics in Medicine 26 (2) , 100992. 10.1016/j.gim.2023.100992 https://doi.org/10.1016/j.gim.2023.100992 file https://orca.cardiff.ac.uk/id/eprint/166142/1/Gene-specific%20ACMG%20AMP%20classification%20criteria.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/166142/
https://doi.org/10.1016/j.gim.2023.100992
https://orca.cardiff.ac.uk/id/eprint/166142/1/Gene-specific%20ACMG%20AMP%20classification%20criteria.pdf

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

المساهمون: Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, Generalitat de Catalunya, Asociación Española Contra el Cáncer, orcid, #NODATA#

Relation: Genes & diseases; Publisher's version; Sí; http://hdl.handle.net/10261/358652; 2-s2.0-85160740452; https://api.elsevier.com/content/abstract/scopus_id/85160740452

الاتاحة: http://hdl.handle.net/10261/358652
https://doi.org/10.1016/j.gendis.2023.03.011
https://api.elsevier.com/content/abstract/scopus_id/85160740452

المؤلفون: Fernández, Agustín F., Rosales, Cecilia, López-Nieva, Pilar, Graña, Osvaldo, Ballestar, Esteban, Ropero, Santiago, Espada, Jesús, Melo, Sonia A., Lujambio, Amaia, Fraga, Mario F., Pino, Irene, Javierre, Biola, Carmona, Francisco J., Acquadro, Francesco, Steenbergen, Renske D.M., Snijders, Peter J.F., Meijer, Chris J., Pineau, Pascal, Dejean, Anne, Lloveras, Belén, Capella, Gabriel, Quer, Josep, Buti, María, Esteban, Juan-Ignacio, Allende, Helena, Rodríguez-Frías, Francisco, Castellsague, Xavier, Minarovits, Janos, Ponce, Jordi, Capello, Daniela, Gaidano, Gianluca, Cigudosa, Juan Cruz, Gómez-López, Gonzalo, Pisano, David G., Valencia, Alfonso, Piris, Miguel Ángel, Bosch, Francesc X., Cahir-McFarland, Ellen, Kieff, Elliott, Esteller, Manel

المساهمون: Universidad San Pablo-CEU. Facultad de Medicina. Departamento de Ciencias Médicas Básicas, Grupo: Enfermedades inmunológicas inflamatorias (ALLERGY)

مصطلحات موضوعية: Cell transformation, DNA Viral, HeLa cells, Neoplasms

وصف الملف: application/pdf

Relation: Genome Research; Fernandez AF, Rosales C, Lopez-Nieva P, Graña O, Ballestar E, Ropero S, Espada J, Melo SA, Lujambio A, Fraga MF, Pino I, Javierre B, Carmona FJ, Acquadro F, Steenbergen RD, Snijders PJ, Meijer CJ, Pineau P, Dejean A, Lloveras B, Capella G, Quer J, Buti M, Esteban JI, Allende H, Rodriguez-Frias F, Castellsague X, Minarovits J, Ponce J, Capello D, Gaidano G, Cigudosa JC, Gomez-Lopez G, Pisano DG, Valencia A, Piris MA, Bosch FX, Cahir-McFarland E, Kieff E, Esteller M. The dynamic DNA methylomes of double-stranded DNA viruses associated with human cancer. Genome Res. 2009 Mar;19(3):438-51. doi:10.1101/gr.083550.108. Epub 2009 Feb 10. PMID: 19208682; PMCID: PMC2661803; http://hdl.handle.net/10637/15223

الاتاحة: http://hdl.handle.net/10637/15223
https://doi.org/10.1101/gr.083550.108

المؤلفون: Rofes, Paula, Dueñas, Núria, del Valle, Jesús, Navarro, Matilde, Balmaña, Judith, Ramón y Cajal, Teresa, Tuset, Noemí, Castillo, Carmen, González, Sara, Brunet, Joan, Capellá, Gabriel, Lázaro, Conxi, Pineda, Marta

المساهمون: Generalitat de Catalunya, Ministerio de Ciencia e Innovación

المصدر: Cancer Medicine ; volume 13, issue 7 ; ISSN 2045-7634 2045-7634

الاتاحة: http://dx.doi.org/10.1002/cam4.7041
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cam4.7041

المؤلفون: Marín, Fátima, Canet-Hermida, Júlia, Bianchi, Vanessa, Chung, Jiil, Wimmer, Katharina, Foulkes, William, Pérez-Alonso, Vanesa, Domínguez-Pinilla, Nerea, Sábado, Constantino, Vázquez-Gómez, Felisa, Molinés, Antonio, Fioravantti, Victoria, Carrasco, Estela, Stengs, Lucie, Edwards, Melissa, Negm, Logine, Das, Anirban, Aronson, Melyssa, Pastor, Ángela, Rueda, Daniel, González-Granado, Luis Ignacio, Tabori, Uri, Capellá, Gabriel, Pineda, Marta

المصدر: Clinical Chemistry ; volume 70, issue 5, page 737-746 ; ISSN 0009-9147 1530-8561

الاتاحة: http://dx.doi.org/10.1093/clinchem/hvae027
https://academic.oup.com/clinchem/article-pdf/70/5/737/57368546/hvae027.pdf

المؤلفون: Moreno-Cabrera, José M, Feliubadaló, Lidia, Pineda, Marta, Prada-Dacasa, Patricia, Ramos-Muntada, Mireia, Del Valle, Jesús, Brunet, Joan, Gel, Bernat, Currás-Freixes, María, Calsina, Bruna, Salazar-Hidalgo, Milton E, Rodríguez-Balada, Marta, Roig, Bàrbara, Fernández-Castillejo, Sara, Durán Domínguez, Mercedes, Arranz Ledo, Mónica, Infante Sanz, Mar, Castillejo, Adela, Dámaso, Estela, Soto, José L, de Miguel, Montserrat, Hidalgo Calero, Beatriz, Sánchez-Zapardiel, José M, Ramon Y Cajal, Teresa, Lasa, Adriana, Gisbert-Beamud, Alexandra, López-Novo, Anael, Ruiz-Ponte, Clara, Potrony, Miriam, Álvarez-Mora, María I, Osorio, Ana, Lorda-Sánchez, Isabel, Robledo, Mercedes, Cascón, Alberto, Ruiz, Anna, Spataro, Nino, Hernan, Imma, Borràs, Emma, Moles-Fernández, Alejandro, Earl, Julie, Cadiñanos, Juan, Sánchez-Heras, Ana B, Bigas, Anna, Capellá, Gabriel, Lázaro, Conxi

المساهمون: Instituto de Salud Carlos III and Ministerio de Ciencia e Innovación, funded by FEDER funds - a way to build Europe -, Department of Research and Universities of the Generalitat de Catalunya and AGAUR, CIBER - Consorcio Centro de Investigación Biomédica en Red

المصدر: Database ; volume 2024 ; ISSN 1758-0463

الاتاحة: http://dx.doi.org/10.1093/database/baae055
https://academic.oup.com/database/article-pdf/doi/10.1093/database/baae055/58445731/baae055.pdf

المؤلفون: Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, Moller, Pål

المساهمون: Tampere University, Clinical Medicine, TAYS Cancer Centre

مصطلحات موضوعية: 3122 Cancers

وصف الملف: fulltext

Relation: 101909; 58; ORCID: /0000-0002-4940-3498/work/133055789; https://trepo.tuni.fi/handle/10024/150138; URN:NBN:fi:tuni-202308097517

الاتاحة: https://trepo.tuni.fi/handle/10024/150138
https://doi.org/10.1016/j.eclinm.2023.101909

المؤلفون: Garcia-Pelaez, José, Barbosa-Matos, Rita, Lobo, Silvana, Dias, Alexandre, Garrido, Luzia, Castedo, Sérgio, Sousa, Sónia, Pinheiro, Hugo, Sousa, Liliana, Monteiro, Rita, Maqueda, Joaquin J, Fernandes, Susana, Carneiro, Fátima, Pinto, Nádia, Lemos, Carolina, Pinto, Carla, Teixeira, Manuel R, Aretz, Stefan, Bajalica-Lagercrantz, Svetlana, Balmaña, Judith, Blatnik, Ana, Benusiglio, Patrick R, Blanluet, Maud, Bours, Vicent, Brems, Hilde, Brunet, Joan, Calistri, Daniele, Capellá, Gabriel, Carrera, Sergio, Colas, Chrystelle, Dahan, Karin, de Putter, Robin, Desseignés, Camille, Domínguez-Garrido, Elena, Egas, Conceição, Evans, D Gareth, Feret, Damien, Fewings, Eleanor, Fitzgerald, Rebecca C, Coulet, Florence, Garcia-Barcina, María, Genuardi, Maurizio, Golmard, Lisa, Hackmann, Karl, Hanson, Helen, Holinski-Feder, Elke, Hüneburg, Robert, Krajc, Mateja, Lagerstedt-Robinson, Kristina, Lázaro, Conxi, Ligtenberg, Marjolijn J L, Martínez-Bouzas, Cristina, Merino, Sonia, Michils, Geneviève, Novaković, Srdjan, Patiño-García, Ana, Ranzani, Guglielmina Nadia, Schröck, Evelin, Silva, Inês, Silveira, Catarina, Soto, José L, Spier, Isabel, Steinke-Lange, Verena, Tedaldi, Gianluca, Tejada, María-Isabel, Woodward, Emma R, Tischkowitz, Marc, Hoogerbrugge, Nicoline, Oliveira, Carla

المصدر: Garcia-Pelaez , J , Barbosa-Matos , R , Lobo , S , Dias , A , Garrido , L , Castedo , S , Sousa , S , Pinheiro , H , Sousa , L , Monteiro , R , Maqueda , J J , Fernandes , S , Carneiro , F , Pinto , N , Lemos , C , Pinto , C , Teixeira , M R , Aretz , S , Bajalica-Lagercrantz , S , Balmaña , J , Blatnik , A , Benusiglio , P R , Blanluet , M , Bours , V , ....

مصطلحات موضوعية: Antigens, CD/genetics, Breast Neoplasms/epidemiology, Cadherins/genetics, Carcinoma, Lobular, Female, Genetic Predisposition to Disease, Genotype, Germ Cells/pathology, Germ-Line Mutation, Humans, Mutation, Missense, Pedigree, Phenotype, Retrospective Studies, Stomach Neoplasms/epidemiology

الاتاحة: https://research.manchester.ac.uk/en/publications/152b280b-d716-4105-8b14-7d81171b71ce
https://doi.org/10.1016/S1470-2045(22)00643-X

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, consortium, Solve-R. D., 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

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: Human Genomics, 17 (1), 39 (2023-05-03)

مصطلحات موضوعية: Life sciences, Genetics & genetic processes, Human health sciences, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine

Relation: https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5; urn:issn:1473-9542; urn:issn:1479-7364; https://orbilu.uni.lu/handle/10993/55059; info:hdl:10993/55059; https://orbilu.uni.lu/bitstream/10993/55059/1/Yaldiz2023.HumanGenomics.pdf; info:pmid:37138343; wos:000979939700001

الاتاحة: https://orbilu.uni.lu/handle/10993/55059
https://orbilu.uni.lu/bitstream/10993/55059/1/Yaldiz2023.HumanGenomics.pdf
https://doi.org/10.1186/s40246-023-00485-5

المؤلفون: Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, 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, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, 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, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, 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, Varavallo, Alessandra, Banfi, Sandro, 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 Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, MAY, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: Genetics in Medicine, 25 (4), 100018 (2023-01-19)

مصطلحات موضوعية: ClinVar, Developmental disorder, Rare diseases, Exome reanalysis, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://doi.org/10.1016/j.gim.2023.100018; urn:issn:1098-3600; urn:issn:1530-0366; https://orbilu.uni.lu/handle/10993/54941; info:hdl:10993/54941; https://orbilu.uni.lu/bitstream/10993/54941/1/PIIS1098360023000242.pdf; info:pmid:36681873; wos:001000649600001

الاتاحة: https://orbilu.uni.lu/handle/10993/54941
https://orbilu.uni.lu/bitstream/10993/54941/1/PIIS1098360023000242.pdf
https://doi.org/10.1016/j.gim.2023.100018

المؤلفون: HASSANIN, Emadeldin Saeed Fathy Sayed, Spier, Isabel, BOBBILI, Dheeraj Reddy, Aldisi, Rana, Klinkhammer, Hannah, David, Friederike, Dueñas, Nuria, Hüneburg, Robert, Perne, Claudia, Brunet, Joan, Capella, Gabriel, Nöthen, Markus M., Forstner, Andreas J., Mayr, Andreas, Krawitz, Peter, MAY, Patrick, Aretz, Stefan, Maj, Carlo

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: BMC Medical Genomics, 16 (1), 42 (2023-03-23)

مصطلحات موضوعية: Human health sciences, Oncology, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Oncologie, Sciences du vivant, Génétique & processus génétiques

Relation: https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-023-01469-z; urn:issn:1755-8794; https://orbilu.uni.lu/handle/10993/54800; info:hdl:10993/54800; https://orbilu.uni.lu/bitstream/10993/54800/1/Hassanin.BMCMedGenom2023.pdf; info:pmid:36872334; wos:000943686100001

الاتاحة: https://orbilu.uni.lu/handle/10993/54800
https://orbilu.uni.lu/bitstream/10993/54800/1/Hassanin.BMCMedGenom2023.pdf
https://doi.org/10.1186/s12920-023-01469-z

المؤلفون: Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Nakken, Sigve, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauss, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Brunet Vidal, Joan, Kariv, Revital, Rosner, Guy, Alejandra Pinero, Tamara, Laura Gonzalez, Maria, Kalfayan, Pablo, Ryan, Neil, Ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, Cappel, Wouter H. de Vos tot Nederveen, Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Buettner, Reinhard, Goergens, Heike, Morak, Monika, Holzapfel, Stefanie, Hueneburg, Robert, Doeberitz, Magnus von Knebel, Loeffler, Markus, Rahner, Nils, Weitz, Jurgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Auranen, Annika, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loic, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Denton, Oliver G., Rodland, Einar Andreas, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Moeslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppälä, Toni T., Møller, Pål

المساهمون: ATG - Applied Tumor Genomics, HUS Abdominal Center, II kirurgian klinikka, Department of Surgery, Clinicum, Helsinki University Hospital Area, University of Helsinki

مصطلحات موضوعية: HEREDITARY COLORECTAL-CANCER, ASPIRIN, CAPP2, Biomedicine, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: The study was supported by a Pink Ribbon grant (194751) from Den Norske Kreftforening to E.H. We express our gratitude to Heikki Jarvinen, Beatrice Alcala-Repo, Teresa Ocana, Maria Pellise, Sabela Carballal, Liseth Rivero, Lorena Moreno, Gerhard Jung, Antoni Castells, Joaquin Cubiella, Laura Rivas, Luis Bujanda, Ines Gil, Jesus Banales, Catalina Garau, Rodrigo Jover, Maria Dolores Pico, Xavier Bessa, Cristina Alvarez, Montserrat Andreu, Carmen Poves, Pedro Perez Segura, Lucia Cid, Marta Carrillo, Enrique Quintero, Angeles Pizarro, Marta Garzon, Adolfo Suarez, Inmaculada Salces, Daniel Rodriguez-Alcalde, Judith Balmana, Adria Lopez, Nuria Duenas, Gemma Llort, Carmen Yague, Teresa Ramon i Cajal, David Fisas Masferrer, Alexandra Gisbert Beamud, Consol Lopez San Martin, Maite Herraiz, Pilar Perez, Cristina Carretero, Maite Betes, Marta Ponce, Elena Aguirre, Nora Alfaro, Carlos Sarroca, and Marianne Haeusler for their efforts over many years. We also thank the Finnish Cancer Foundation, Jane and Aatos Erkko Foundation, Emil Aaltonen Foundation, Finnish Medical Foundation, Instrumentarium Science Foundation, Sigrid Juselius Foundation, and the Norwegian Cancer Society (contract 194751-2017) for funding. D.G.E. and E.J.C. are supported by the all Manchester National Institute for Health Research (NIHR) Biomedical Research Center (IS-BRC-1215-20007) and J.R.S. by Health and Care Research Wales through Wales Gene Park. N.R. was a Medical Research Council Doctoral Research Fellow (MR/M018431/1). Research reported in this publication was supported by the National Cancer Institute (NCI) of the National Institutes of Health (NIH) under award number UM1CA167551 and through cooperative agreements with the following The Colon Cancer Family Registry (CCFR) centers: Australasian Colorectal Cancer Family Registry (NCI/NIH U01 CA074778 and U01/U24 CA097735), Mayo Clinic Cooperative Family Registry for Colon Cancer Studies (NCI/NIH U01/U24 CA074800), Ontario Familial Colorectal Cancer Registry (NCI/NIH U01/U24 CA074783), Seattle Colorectal Cancer Family Registry (NCI/NIH U01/U24 CA074794), University of Hawaii Colorectal Cancer Family Registry (NCI/NIH U01/U24 CA074806 and R01 CA104132 to L.L.), USC Consortium Colorectal Cancer Family Registry (NCI/NIH U01/U24 CA074799). The German Consortium for Familial Intestinal Cancer has been supported by grants from the German Cancer Aid. Data collection from Wales, UK was supported by the Wales Gene Park. This work was cofunded by the European Regional Development Fund (ERDF). M.N. and S.W.t.B were supported by a grant from the Dutch Cancer Society (DCS), grant number UL 2017-8223. G.C., M.P., and J.B.V. were funded by the Spanish Ministry of Economy and Competitiveness and cofunded by FEDER funds (A Way to Build Europe) (grant SAF2015-68016-R), CIBERONC, the Government of Catalonia (grant 2017SGR1282).; Dominguez-Valentin , M , Crosbie , E J , Engel , C , Aretz , S , Macrae , F , Winship , I , Capella , G , Thomas , H , Nakken , S , Hovig , E , Nielsen , M , Sijmons , R H , Bertario , L , Bonanni , B , Tibiletti , M G , Cavestro , G M , Mints , M , Gluck , N , Katz , L , Heinimann , K , Vaccaro , C A , Green , K , Lalloo , F , Hill , J , Schmiegel , W , Vangala , D , Perne , C , Strauss , H-G , Tecklenburg , J , Holinski-Feder , E , Steinke-Lange , V , Mecklin , J-P , Plazzer , J-P , Pineda , M , Navarro , M , Brunet Vidal , J , Kariv , R , Rosner , G , Alejandra Pinero , T , Laura Gonzalez , M , Kalfayan , P , Ryan , N , Ten Broeke , S W , Jenkins , M A , Sunde , L , Bernstein , I , Burn , J , Greenblatt , M , Cappel , W H D V T N , Della Valle , A , Lopez-Koestner , F , Alvarez , K , Buettner , R , Goergens , H , Morak , M , Holzapfel , S , Hueneburg , R , Doeberitz , M V K , Loeffler , M , Rahner , N , Weitz , J , Pylvänäinen , K , Renkonen-Sinisalo , L , Lepistö , A , Auranen , A , Hopper , J L , Win , A K , Haile , R W , Lindor , N M , Gallinger , S , Le Marchand , L , Newcomb , P A , Figueiredo , J C , Thibodeau , S N , Therkildsen , C , Okkels , H , Ketabi , Z , Denton , O G , Rodland , E A , Vasen , H , Neffa , F , Esperon , P , Tjandra , D , Moeslein , G , Sampson , J R , Evans , D G , Seppälä , T T & Møller , P 2021 , ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ' , Genetics In medicine , vol. 23 , no. 4 , pp. 705-712 . https://doi.org/10.1038/s41436-020-01029-1; ORCID: /0000-0002-5866-4059/work/127004131; ORCID: /0000-0002-4940-3498/work/127004783; http://hdl.handle.net/10138/353260; 053c901b-4612-4593-9ac3-efc3c63f8439; 000595283200001

الاتاحة: http://hdl.handle.net/10138/353260

المؤلفون: Jackson, Adam, Lin, Sheng-Jia, Jones, Elizabeth A., Chandler, Kate E., Orr, David, Moss, Celia, Haider, Zahra, Ryan, Gavin, Holden, Simon, Harrison, Mike, Burrows, Nigel, Jones, Wendy D., Loveless, Mary, Petree, Cassidy, Stewart, Helen, Low, Karen, Donnelly, Deirdre, Lovell, Simon, Drosou, Konstantina, Varshney, Gaurav K., Banka, Siddharth, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Alexander, Elizabeth, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, Van de Vondel, Liedewei, Beijer, Danique, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, 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., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Rodriguez Cruz, Pedro M., Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas

المساهمون: Jackson, Adam, Lin, Sheng-Jia, Jones, Elizabeth A., Chandler, Kate E., Orr, David, Moss, Celia, Haider, Zahra, Ryan, Gavin, Holden, Simon, Harrison, Mike, Burrows, Nigel, Jones, Wendy D., Loveless, Mary, Petree, Cassidy, Stewart, Helen, Low, Karen, Donnelly, Deirdre, Lovell, Simon, Drosou, Konstantina, Varshney, Gaurav K., Banka, Siddharth, Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mcentagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O‘donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthi, Wilke, Carlo, Traschütz, Andrea, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han

مصطلحات موضوعية: Autosomal recessive ectodermal dysplasia type 14, Closca, Conical teeth, Ectodermal dysplasia, Enamel knot, Extracellular matrix dependant signalling, Hypodontia, TSPEAR, WNT10A, zebrafish fin regeneration

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37009414; info:eu-repo/semantics/altIdentifier/wos/WOS:000961108100001; volume:4; issue:2; firstpage:100186-1; lastpage:100186-19; numberofpages:19; journal:HGG ADVANCES; https://hdl.handle.net/11392/2543394; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85150337683; https://www.sciencedirect.com/science/article/pii/S2666247723000180?via=ihub

الاتاحة: https://hdl.handle.net/11392/2543394
https://doi.org/10.1016/j.xhgg.2023.100186
https://www.sciencedirect.com/science/article/pii/S2666247723000180?via=ihub

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

Relation: Versió postprint del document publicat a: https://doi.org/10.1136/jmg-2023-109344; Journal of Medical Genetics, 2023, vol. 60, num.11, p. 1044-1051; https://doi.org/10.1136/jmg-2023-109344; http://hdl.handle.net/2445/209225; 742558

الاتاحة: http://hdl.handle.net/2445/209225

المؤلفون: Hitchins, Megan P., Álvarez, Rocío, Zhou, Lisa, Aguirre, Francesca, Dámaso, Estela, Pineda Riu, Marta, Capella, Gabriel, Wong, Justin J.- L., Yuan, Xiaopu, Ryan, Shawnia R., Sathe, Devika S., Baxter, Melanie D., Cannon, Timothy, Biswas, Rakesh, Demarco, Tiffani, Grzelak, Doreen, Hampel, Heather, Pearlman, Rachel

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Càncer d'endometri, Medicina experimental, Endometrial cancer, Experimental medicine

وصف الملف: 12 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.1016/j.ygyno.2023.02.017; Gynecologic Oncology, 2023, vol. 171, p. 129-140; https://doi.org/10.1016/j.ygyno.2023.02.017; http://hdl.handle.net/2445/198672

الاتاحة: http://hdl.handle.net/2445/198672