المؤلفون: Fortuno, Cristina, Feng, Bing-Jian, Carroll, Courtney, Innella, Giovanni, Kohlmann, Wendy, Lázaro, Conxi, Brunet, Joan, Feliubadaló, Lidia, Iglesias, Silvia, Menéndez, Mireia, Teulé, Alex, Ballinger, Mandy L, Thomas, David M, Campbell, Ainsley, Field, Mike, Harris, Marion, Kirk, Judy, Pachter, Nicholas, Poplawski, Nicola, Susman, Rachel, Tucker, Kathy, Wallis, Mathew, Williams, Rachel, Cops, Elisa, Goldgar, David, James, Paul A, Spurdle, Amanda B

المساهمون: Fortuno, Cristina, Feng, Bing-Jian, Carroll, Courtney, Innella, Giovanni, Kohlmann, Wendy, Lázaro, Conxi, Brunet, Joan, Feliubadaló, Lidia, Iglesias, Silvia, Menéndez, Mireia, Teulé, Alex, Ballinger, Mandy L, Thomas, David M, Campbell, Ainsley, Field, Mike, Harris, Marion, Kirk, Judy, Pachter, Nichola, Poplawski, Nicola, Susman, Rachel, Tucker, Kathy, Wallis, Mathew, Williams, Rachel, Cops, Elisa, Goldgar, David, James, Paul A, Spurdle, Amanda B

مصطلحات موضوعية: TP53

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38412388; volume:8; firstpage:1; lastpage:18; numberofpages:18; journal:JCO PRECISION ONCOLOGY; https://hdl.handle.net/11585/963048Test

الإتاحة: https://doi.org/10.1200/PO.23.00453Test
https://hdl.handle.net/11585/963048Test

المؤلفون: Thomassen, Mads, Mesman, Romy L.S., Hansen, Thomas V.O., Menendez, Mireia, Rossing, Maria, Esteban-Sánchez, Ada, Tudini, Emma, Törngren, Therese, Parsons, Michael T., Pedersen, Inge S., Teo, Soo H., Kruse, Torben A., Møller, Pål, Borg, Åke, Jensen, Uffe B., Christensen, Lise L., Singer, Christian F., Muhr, Daniela, Santamarina, Marta, Brandao, Rita, Andresen, Brage S., Feng, Bing Jian, Canson, Daffodil, Richardson, Marcy E., Karam, Rachid, Pesaran, Tina, LaDuca, Holly, Conner, Blair R., Abualkheir, Nelly, Hoang, Lily, Calléja, Fabienne M.G.R., Andrews, Lesley, James, Paul A., Bunyan, Dave, Hamblett, Amanda, Radice, Paolo, Goldgar, David E., Walker, Logan C., Engel, Christoph, Claes, Kathleen B.M., Macháčková, Eva, Baralle, Diana, Viel, Alessandra, Wappenschmidt, Barbara, Lazaro, Conxi, Vega, Ana, Vreeswijk, Maaike P.G., de la Hoya, Miguel, Spurdle, Amanda B.

المصدر: Thomassen , M , Mesman , R L S , Hansen , T V O , Menendez , M , Rossing , M , Esteban-Sánchez , A , Tudini , E , Törngren , T , Parsons , M T , Pedersen , I S , Teo , S H , Kruse , T A , Møller , P , Borg , Å , Jensen , U B , Christensen , L L , Singer , C F , Muhr , D , Santamarina , M , Brandao , R , Andresen , B S , Feng , B ....

مصطلحات موضوعية: ACMG/AMP classification, BRCA2, dPCR, functional analysis, quantitation, splicing

وصف الملف: application/pdf

العلاقة: https://pure.au.dk/portal/da/publications/clinical-splicing-and-functional-analysis-to-classify-brca2-exon-3-variantsTest(55acd069-a13c-4201-b25b-70eadea66581).html

الإتاحة: https://doi.org/10.1002/humu.24449Test
https://pure.au.dk/portal/da/publications/clinical-splicing-and-functional-analysis-to-classify-brca2-exon-3-variantsTest(55acd069-a13c-4201-b25b-70eadea66581).html
https://pure.au.dk/ws/files/342165161/Human_Mutation_-_2022_-_Thomassen.pdfTest
http://www.scopus.com/inward/record.url?scp=85140357391&partnerID=8YFLogxKTest

المؤلفون: Thomassen, Mads, Mesman, Romy L. S., Hansen, Thomas V. O., Menendez, Mireia, Rossing, Maria, Esteban Sánchez, Ada, Tudini, Emma, Törngren, Therese, Parsons, Michael T., Pedersen, Inge S., Teo, Soo H., Kruse, Torben A., Møller, Pål, Borg, Åke, Jensen, Uffe B., Christensen, Lise L., Singer, Christian F., Muhr, Daniela, Santamarina, Marta, Brandao, Rita, Andresen, Brage S., Feng, Bing Jian, Canson, Daffodil, Richardson, Marcy E., Karam, Rachid, Pesaran, Tina, Laduca, Holly, Conner, Blair R., Abualkheir, Nelly, Hoang, Lily, Calléja, Fabienne M. G. R., Andrews, Lesley, James, Paul A., Bunyan, Dave, Hamblett, Amanda, Radice, Paolo, Goldgar, David E., Walker, Logan C., Engel, Christoph, Claes, Kathleen B. M., Macháčková, Eva, Baralle, Diana, Viel, Alessandra, Wappenschmidt, Barbara, Lazaro, Conxi, Vega, Ana, Vreeswijk, Maaike P. G., Hoya, Miguel de la, Spurdle, Amanda B., Enigma Consortium

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

مصطلحات موضوعية: Genètica molecular, RNA, Molecular genetics

وصف الملف: 24 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1002/humu.24449Test; Human Mutation, 2022, vol. 43, num. 12, p. 1921-1944; https://doi.org/10.1002/humu.24449Test; http://hdl.handle.net/2445/205300Test

الإتاحة: https://doi.org/10.1002/humu.24449Test
http://hdl.handle.net/2445/205300Test

المؤلفون: Rofes, Paula, Pineda, Marta, Feliubadaló, Lídia, Menéndez, Mireia, Cid, Rafael de, Gómez, Carolina, Montes, Eva, Capellá, G. (Gabriel), Brunet, Joan, Valle, Jesús del, Lázaro, Conxi

المصدر: Articles publicats en revistes (Ciències Clíniques)

مصطلحات موضوعية: Genètica humana, Càncer d'ovari, Càncer de mama, Human genetics, Ovarian cancer, Breast cancer

وصف الملف: 7 p.; application/pdf

العلاقة: Reproducció del document publicat a: https://doi.org/10.1038/s41598-021-02465-yTest; Scientific Reports, 2021, vol. 11, num. 1; https://doi.org/10.1038/s41598-021-02465-yTest; http://hdl.handle.net/2445/181873Test; 720531

الإتاحة: https://doi.org/10.1038/s41598-021-02465-yTest
http://hdl.handle.net/2445/181873Test

المؤلفون: Teira, Andrea, Menéndez, Mireia, Salmón, Zaida, Nan, Daniel

المصدر: Case Reports in Clinical Medicine ; volume 09, issue 05, page 122-130 ; ISSN 2325-7075 2325-7083

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.4236/crcm.2020.95018Test

المؤلفون: Rofes, Paula, Menéndez, Mireia, González, Sara, Tornero, Eva, Gómez, Carolina, Vargas-Parra, Gardenia, Montes, Eva, Salinas, Mónica, Solanes, Ares, Brunet, Joan, Teulé, Alex, Capellá, Gabriel, Feliubadaló, Lídia, del Valle, Jesús, Pineda, Marta, Lázaro, Conxi

المساهمون: Instituto de Salud Carlos III, Generalitat de Catalunya

المصدر: The Journal of Molecular Diagnostics ; volume 22, issue 12, page 1453-1468 ; ISSN 1525-1578

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.jmoldx.2020.09.007Test
https://api.elsevier.com/content/article/PII:S1525157820304840?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525157820304840?httpAccept=text/plainTest

المؤلفون: Mezquita, Laura, Jové, Maria, Nadal, Ernest, Kfoury, Maria, Morán, Teresa, Ricordel, Charles, Dhooge, Marion, Tlemsani, Camille, Léna, Hervé, Teulé, Alex, Álvarez, Jose-Valero, Raimbourg, Judith, Hiret, Sandrine, Lacroix, Ludovic, Menéndez, Mireia, Saldaña, Juana, Brunet, Joan, Lianes, Pilar, Coupier, Isabelle, Auclin, Edouard, Recondo, Gonzalo, Friboulet, Luc, Adam, Julien, Green, Emma, Planchard, David, Frébourg, Thierry, Capellà, Gabriel, Rouleau, Etienne, Lázaro, Conxi, Caron, Olivier, Besse, Benjamin

المساهمون: Generalitat de Catalunya, Universidad Carlos III de Madrid, European Society for Medical Oncology, Sociedad Española de Oncología Médica, European Regional Development Fund, International Association for the Study of Lung Cancer

المصدر: Journal of Thoracic Oncology ; volume 15, issue 7, page 1232-1239 ; ISSN 1556-0864

الإتاحة: https://doi.org/10.1016/j.jtho.2020.03.005Test
https://api.elsevier.com/content/article/PII:S1556086420301970?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1556086420301970?httpAccept=text/plainTest

المؤلفون: Moles-Fernández, Alejandro, Duran-Lozano, Laura, Montalban, Gemma, Bonache, Sandra, López-Perolio, Irene, Menéndez, Mireia, Santamariña, Marta, Behar, Raquel, Blanco, Ana, Carrasco, Estela, López-Fernández, Adrià, Stjepanovic, Neda, Balmaña, Judith, Capellá, Gabriel, Pineda, Marta, Vega, Ana, Lázaro, Conxi, de la Hoya, Miguel, Diez, Orland, Gutiérrez-Enríquez, Sara

المصدر: Frontiers in Genetics ; volume 9 ; ISSN 1664-8021

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

الإتاحة: https://doi.org/10.3389/fgene.2018.00366Test

المؤلفون: Feliubadaló, Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean-Rémi, Castellanos, Elisabeth, López-Doriga, Adriana, Teulé, Àlex, Tornero, Eva, del Valle, Jesús, Gel, Bernat, Gut, Marta, Pineda, Marta, González, Sara, Menéndez, Mireia, Navarro, Matilde, Capellá, Gabriel, Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro, Conxi

المصدر: Scientific Reports ; volume 7, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/srep37984Test
https://www.nature.com/articles/srep37984.pdfTest
https://www.nature.com/articles/srep37984Test

المؤلفون: Milne, Roger L., Kuchenbaecker, Karoline, Vaclová, Tereza, Pita, Guillermo, Alonso, Rosario, Peterlongo, Paolo, Blanco, Ignacio, Hoya, Miguel de la, Duran, Mercedes, Diez, Orland, Ramón y Cajal, Teresa, Konstantopoulou, Irene, Martínez-Bouzas, Christina, Conejero, Raquel Andrés, Soucy, Penny, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Arver, Brita, Rantala, Johanna, Loman, Niklas, Ehrencrona, Hans, Olopade, Olufunmilayo I., Beattie, Mary S., Domchek, Susan M., Nathanson, Katherine, Rebbeck, Timothy R., Arun, Banu K., Karlan, Beth Y., Walsh, Christine, Lester, Jenny, John, Esther M., Whittemore, Alice S., Daly, Mary B., Southey, Melissa, Hopper, John, Terry, Mary B., Buys, Saundra S., Janavicius, Ramunas, Dorfling, Cecilia M., Rensburg, Elizabeth J. ˜vanœ, Steele, Linda, Neuhausen, Susan L., Ding, Yuan Chun, Hansen, Thomas v. O., Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Infante, Mar, Herráez, Belén, Moreno, Leticia Thais, Weitzel, Jeffrey N., Herzog, Josef, Weeman, Kisa, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Guilietta, Bonanni, Bernardo, Mariette, Frederique, Volorio, Sara, Viel, Alessandra, Varesco, Liliana, Papi, Laura, Ottini, Laura, Tibiletti, Maria Grazia, Radice, Paolo, Yannoukakos, Drakoulis, Garber, Judy, Ellis, Steve, Frost, Debra, Platte, Radka, Fineberg, Elena, Evans, Gareth, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Eccles, Diana, Cook, Jackie, Hodgson, Shirley, Brewer, Carole, Tischkowitz, Marc, Douglas, Fiona, Porteous, Mary, Side, Lucy, Walker, Lisa, Morrison, Patrick, Donaldson, Alan, Kennedy, John, Foo, Claire, Godwin, Andrew K., Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Engel, Christoph, Meindl, Alftons, Ditsch, Nina, Arnold, Norbert, Plendl, Hans Jörg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Gehrig, Andrea, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M., Mazoyer, Sylvie, Damiola, Francesca, Poppe, Bruce, Claes, Kathleen, Piedmonte, Marion, Tucker, Kathy, Backes, Floor, Rodríguez, Gustavo, Brewster, Wendy, Wakeley, Katie, Rutherford, Thomas, Caldés, Trinidad, Nevanlinna, Heli, Aittomäki, Kristiina, Rookus, Matti A., Os, Theo A. M. ˜vanœ, Kolk, Lizet ˜van derœ, Lange, J. L. ˜deœ, Meijers-Heijboer, Hanne E. J., Hout, A. H. ˜van derœ, Asperen, Christi J. van, Goméz Garcia, Encarna B., Encarna, B., Hoogerbrugge, Nicoline, Collée, J. Margriet, Deurzen, Carolien H. M. van, Luijt, Rob B. Van Der, Devilee, Peter, Olah, Edith, Lázaro, Conxi, Teulé, Alex, Menéndez, Mireia, Jakubowska, Anna, Cybulski, Cezary, Gronwald, Jecek, Lubinski, Jan, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Johannsson, Oskar Th., Maugard, Christine, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R., Healey, Sue, Olswold, Curtis, Guidugli, Lucia, Lindor, Noralane, Slager, Susan, Szabo, Csilla I., Vijai, Joseph, Robson, Mark, Kauff, Noah, Zhang, Liying, Rau-Murthy, Rohini, Fink-Retter, Anneliese, Singer, Christine F., Rappaport, Christine, Kaulich, Daphne Geschwantler, Pfeiler, Georg, Tea, Muy-Kheng, Berger, Andreas, Phelan, Catherine M., Greene, Mark H., Mai, Phuong L., Lejbkowicz, Flavio, Andrulis, Irene, Mulligan, Anna Marie, Glendon, Gord, Toland, Amanda Ewart, Bojesen, Anders, Pedersen, Inge Sokilde, Sunde, Lone, Thomassen, Mads, Kruse, Torben A., Jensen, Uffe Birk, Friedman, Eitan, Laitman, Yeal, Shimon, Shanie Paluch, Simard, Jaques, Easton, Douglas F., Offit, Kenneth, Couch, Fergus J., Chenevix-Trench, Georgia, Antoniou, Antonis C., Benitez, Javier, SWE-BRCA ; HEBON ; kConFab Investigators, http://data.europeana.eu/agent/base/86868Test, http://data.europeana.eu/agent/base/125354Test, Osorio, Ana

الوصول الحر: https://www.europeana.eu/item/2048441/item_W4OQT5YXPL32FTCNUNJN2ZI22EM4MLOM?utm_source=api&utm_medium=api&utm_campaign=YuvuWBeCaTest