Zobrazeno 1 - 10
of 91
pro vyhledávání: '"Gómez Garcia, Encarna"'
Autor:
Parsons, Michael T., de la Hoya, Miguel, Richardson, Marcy E., Tudini, Emma, Anderson, Michael, Berkofsky-Fessler, Windy, Caputo, Sandrine M., Chan, Raymond C., Cline, Melissa S., Feng, Bing-Jian, Fortuno, Cristina, Gomez-Garcia, Encarna, Hadler, Johanna, Hiraki, Susan, Holdren, Megan, Houdayer, Claude, Hruska, Kathleen, James, Paul, Karam, Rachid, Leong, Huei San, Martins, Alexandra, Mensenkamp, Arjen R., Monteiro, Alvaro N., Nathan, Vaishnavi, O'Connor, Robert, Pedersen, Inge Sokilde, Pesaran, Tina, Radice, Paolo, Schmidt, Gunnar, Southey, Melissa, Tavtigian, Sean, Thompson, Bryony A., Toland, Amanda E., Turnbull, Clare, Vogel, Maartje J., Weyandt, Jamie, Wiggins, George A.R., Zec, Lauren, Couch, Fergus J., Walker, Logan C., Vreeswijk, Maaike P.G., Goldgar, David E., Spurdle, Amanda B.
Publikováno v:
In The American Journal of Human Genetics 5 September 2024 111(9):2044-2058
Autor:
Stroot, Iris A.S., Bart, Joost, Hollema, Harry, Jalving, Mathilde, Wagner, Marise M., Yigit, Refika, van Doorn, Helena C., de Hullu, Joanne A., Gaarenstroom, Katja N., van Beurden, Marc, van Lonkhuijzen, Luc R.C.W., Slangen, Brigitte F.M., Zweemer, Ronald P., Gómez García, Encarna B., Ausems, Margreet G.E.M., Boere, Ingrid A., van Hest, Liselotte P., Duijkers, Floor A.M., van Asperen, Christi J., Schmidt, Marjanka K., Wevers, Marijke R., Ruijs, Marielle W.G., Devilee, Peter, Collée, J. Margriet, HEBON investigators, de Bock, Geertruida H., Mourits, Marian J.E.
Publikováno v:
In Gynecologic Oncology August 2024 187:198-203
Autor:
van der Werf-’t Lam, Anne-Sophie, Terlouw, Diantha, Tops, Carli M., van Kan, Merel S., van Hest, Liselotte P., Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis L., Letteboer, Tom G.W., de Jong, Mirjam M., Bajwa-ten Broeke, Sanne W., Bleeker, Fonnet E., Gomez Garcia, Encarna B., de Wind, Niels, van Wezel, J. Tom, Morreau, Hans, Suerink, Manon, Nielsen, Maartje
Publikováno v:
In Modern Pathology September 2023 36(9)
Autor:
Terlouw, Diantha, Bajwa-ten Broeke, Sanne W., Rodríguez-Girondo, Mar, van Egmond, Demi, Langers, Alexandra M.J., van Leerdam, Monique E., Rayner, Emily, van Asperen, Christi J., van Hest, Liselotte P., Gille, Hans J.P., Duijkers, Floor A.M., Wagner, Anja, Eikenboom, Ellis L., Letteboer, Tom G.W., de Jong, Mirjam M., Bleeker, Fonnet E., Gomez Garcìa, Encarna B., Suerink, Manon, Tops, Carli M., de Wind, Niels, Helderman, Noah c., Van Der Werf-’T Lam, Anne-Sophie, Morreau, Hans, Boot, Arnoud, Van Wezel, Tom, Nielsen, Maartje
Publikováno v:
In Gastroenterology July 2023 165(1):271-274
Autor:
Terra, Lara, Beekman, Maarten J., Engelhardt, Ellen G., Heemskerk-Gerritsen, Bernadette A.M., van Beurden, Marc, Roeters van Lennep, Jeanine E., van Doorn, Helena C., de Hullu, Joanne A., Van Dorst, Eleonora B.L., Mom, Constantijne H., Slangen, Brigitte F.M., Gaarenstroom, Katja N., van der Kolk, Lizet E., Collée, J. Margriet, Wevers, Marijke R., Ausems, Margreet G.E.M., Van Engelen, Klaartje, van de Beek, Irma, Berger, Lieke P.V., van Asperen, Christi J., Gomez Garcia, Encarna B., Maas, Angela H.E.M., Hooning, Maartje J., Aaronson, Neil K., Mourits, Marian J.E., van Leeuwen, Flora E.
Publikováno v:
In American Journal of Obstetrics and Gynecology April 2023 228(4):440-440
Akademický článek
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Autor:
Figlioli, Gisella, Billaud, Amandine, Wang, Qin, Bolla, Manjeet K, Dennis, Joe, Lush, Michael, Kvist, Anders, Adank, Muriel A, Ahearn, Thomas U, Antonenkova, Natalia N, Auvinen, Päivi, Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brüning, Thomas, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Cessna, Melissa H, Nbcs Collaborators, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Eriksson, Mikael, Fasching, Peter A, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Glendon, Gord, Gómez Garcia, Encarna B, González-Neira, Anna, Grassmann, Felix, Guénel, Pascal, Hahnen, Eric, Hamann, Ute, Hillemanns, Peter, Hooning, Maartje J, Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, KConFab Investigators, Jakubowska, Anna, Khusnutdinova, Elza K, Kristensen, Vessela N, Lindblom, Annika, Loizidou, Maria A, Lubiński, Jan, Mannermaa, Arto, Maurer, Tabea, Mavroudis, Dimitrios, Newman, William G, Obi, Nadia, Panayiotidis, Mihalis I, Radice, Paolo, Rashid, Muhammad U, Rhenius, Valerie, Ruebner, Matthias, Saloustros, Emmanouil, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Shah, Mitul, Southey, Melissa C, Tomlinson, Ian, Truong, Thérèse, Van Veen, Elke M, Wendt, Camilla, Yang, Xiaohong R, Michailidou, Kyriaki, Dunning, Alison M, Pharoah, Paul DP, Easton, Douglas F, Andrulis, Irene L, Evans, D Gareth, Hollestelle, Antoinette, Chang-Claude, Jenny, Milne, Roger L, Peterlongo, Paolo
FANCM germline protein truncating variants (PTVs) are moderate-risk factors for ER-negative breast cancer. We previously described the spectrum of FANCM PTVs in 114 European breast cancer cases. In the present, larger cohort, we report the spectrum a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b86d95e4d21b5c39d6fd0f3d80dc51
https://www.repository.cam.ac.uk/handle/1810/350861
https://www.repository.cam.ac.uk/handle/1810/350861
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Zanti, Maria, O'Mahony, Denise G., Parsons, Michael T., Li, Hongyan, Dennis, Joe, Aittomäkkiki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Aronson, Kristan J., Augustinsson, Annelie, Becher, Heiko, Bojesen, Stig E., Bolla, Manjeet K., Brenner, Hermann, Brown, Melissa A., Buys, Saundra S., Canzian, Federico, Caputo, Sandrine M., Castelao, Jose E., Chang-Claude, Jenny, Czene, Kamila, Daly, Mary B., De Nicolo, Arcangela, Devilee, Peter, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Engel, Christoph, Gareth Evans, Evans, Fasching, Peter A., Gago-Dominguez, Manuela, García-Closas, Montserrat, García-Sáenz, José A., Gentry-Maharaj, Aleksandra, Geurts-Giele, Willemina R. R., Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Gómez Garcia, Encarna B., Göendert, Melanie, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harkness, Elaine F., Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L., Houdayer, Claude, Houlston, Richard S., Howell, Anthony, Jakimovska, Milena, Jakubowska, Anna, Jernström, Helena, John, Esther M., Kaaks, Rudolf, Kitahara, Cari M., Koutros, Stella, Kraft, Peter, Kristensen, Vessela N., Lacey, James V., Lambrechts, Diether, Léoné, Melanie, Lindblom, Annika, Lubiski, Jan, Lush, Michael, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Menon, Usha, Milne, Roger L., Monteiro, Alvaro N., Murphy, Rachel A., Neuhausen, Susan L., Nevanlinna, Heli, Newman, William G., Offit, Kenneth, Park, Sue K., James, Paul, Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Punie, Kevin, Radice, Paolo, Rashid, Muhammad U., Rennert, Gad, Romero, Atocha, Rosenberg, Efraim H., Saloustros, Emmanouil, Sandler, Dale P., Schmidt, Marjanka K., Schmutzler, Rita K., Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Stoppa-Lyonnet, Dominique, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Terry, Mary Beth, Thomassen, Mads, Troester, Melissa A., Vachon, Celine M., Vega, Ana, Vreeswijk, Maaike P. G., Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Wolk, Alicja, Zheng, Wei, Feng, Bingjian, Couch, Fergus J., Spurdle, Amanda B., Easton, Douglas F., Goldgar, David E., Michailidou, Kyriaki
Publikováno v:
Zanti, Maria O'Mahony, Denise G. Parsons, Michael T. Li, Hongyan Dennis, Joe Aittomäkkiki, Kristiina Andrulis, Irene L. Anton-Culver, Hoda Aronson, Kristan J. Augustinsson, Annelie Becher, Heiko Bojesen, Stig E. Bolla, Manjeet K. Brenner, Hermann Brown, Melissa A. Buys, Saundra S. Canzian, Federico Caputo, Sandrine M. Castelao, Jose E. Chang-Claude, Jenny Czene, Kamila Daly, Mary B. De Nicolo, Arcangela Devilee, Peter Dörk, Thilo Dunning, Alison M. Dwek, Miriam Eccles, Diana M. Engel, Christoph Gareth Evans, Evans Fasching, Peter A. Gago-Dominguez, Manuela García-Closas, Montserrat García-Sáenz, José A. Gentry-Maharaj, Aleksandra Geurts-Giele, Willemina R. R. Giles, Graham G. Glendon, Gord Goldberg, Mark S. Gómez Garcia, Encarna B. Göendert, Melanie Guénel, Pascal Hahnen, Eric Haiman, Christopher A. Hall, Per Hamann, Ute Harkness, Elaine F. Hogervorst, Frans B. L. Hollestelle, Antoinette Hoppe, Reiner Hopper, John L. Houdayer, Claude Houlston, Richard S. Howell, Anthony Jakimovska, Milena Jakubowska, Anna Jernström, Helena John, Esther M. Kaaks, Rudolf Kitahara, Cari M. Koutros, Stella Kraft, Peter Kristensen, Vessela N. Lacey, James V. Lambrechts, Diether Léoné, Melanie Lindblom, Annika Lubiski, Jan Lush, Michael Mannermaa, Arto Manoochehri, Mehdi Manoukian, Siranoush Margolin, Sara Martinez, Maria Elena Menon, Usha Milne, Roger L. Monteiro, Alvaro N. Murphy, Rachel A. Neuhausen, Susan L. Nevanlinna, Heli Newman, William G. Offit, Kenneth Park, Sue K. James, Paul Peterlongo, Paolo Peto, Julian Plaseska-Karanfilska, Dijana Punie, Kevin Radice, Paolo Rashid, Muhammad U. Rennert, Gad Romero, Atocha Rosenberg, Efraim H. Saloustros, Emmanouil Sandler, Dale P. Schmidt, Marjanka K. Schmutzler, Rita K. Shu, Xiao-Ou Simard, Jacques Southey, Melissa C. Stone, Jennifer Stoppa-Lyonnet, Dominique Tamimi, Rulla M. Tapper, William J. Taylor, Jack A. Teo, Soo Hwang Teras, Lauren R. Terry, Mary Beth Thomassen, Mads Troester, Melissa A. Vachon, Celine M. Vega, Ana Vreeswijk, Maaike P. G. Wang, Qin Wappenschmidt, Barbara Weinberg, Clarice R. Wolk, Alicja Zheng, Wei Feng, Bingjian Couch, Fergus J. Spurdle, Amanda B. Easton, Douglas F. Goldgar, David E. Michailidou, Kyriaki . A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2. Human Mutation. 2023, 2023
Human Mutation
Human Mutation
Externí odkaz:
http://hdl.handle.net/10852/109927
Autor:
Parsons, Michael, Anderson, Michael, Berkofsky-Fessler, Windy, Caputo, Sandrine, Chan, Raymond, Cline, Melissa, Couch, Fergus, de la Hoya, Miguel, Feng, Bing-Jian, Goldgar, David, Gomez-Garcia, Encarna, Hiraki, Susan, Holdren, Megan, Houdayer, Claude, James, Paul, Karam, Rachid, San Leong, Huei, Martins, Alexandra, Mensenkamp, Arjen, Monteiro, Alvaro, Nathan, Vaishnavi, O'Connor, Robert, Pesaran, Tina, Radice, Paolo, Richardson, Marcy, Schmidt, Gunnar, Pedersen, Inge Sokilde, Southey, Melissa, Tavtigian, Sean, Thompson, Bryony, Toland, Amanda, Tudini, Emma, Turnbull, Clare, Vreeswijk, Maaike, Walker, Logan, Zec, Lauren, Spurdle, Amanda
Publikováno v:
In Genetics in Medicine Open 2023 1(1) Supplement