Zobrazeno 1 - 10
of 68
pro vyhledávání: '"M Kets"'
Autor:
Carolien M. Kets, M. A. Legdeur, Jan C. Oosterwijk, Ellen M. A. Smets, Christianne A.R. Lok, Marian J.E. Mourits, L. E. van der Kolk, M. R. Buist, Cora M. Aalfs, I. van de Beek, J.A. de Hullu
Publikováno v:
van de Beek, I, Smets, E M A, Legdeur, M A, de Hullu, J A, Lok, C A R, Buist, M R, Mourits, M J E, Kets, C M, van der Kolk, L E, Oosterwijk, J C & Aalfs, C M 2020, ' Genetic counseling of patients with ovarian carcinoma: acceptance, timing, and psychological wellbeing ', Journal of Community Genetics, vol. 11, no. 2, pp. 183-191 . https://doi.org/10.1007/s12687-019-00427-6
Journal of Community Genetics
Journal of Community Genetics, 11, 2, pp. 183-191
Journal of community genetics, 11(2), 183-191. SPRINGER HEIDELBERG
Journal of Community Genetics, 11(2), 183-191. Springer Verlag
Journal of Community Genetics, 11, 183-191
Journal of community genetics, 11(2), 183-191. Springer Verlag
Journal of Community Genetics
Journal of Community Genetics, 11, 2, pp. 183-191
Journal of community genetics, 11(2), 183-191. SPRINGER HEIDELBERG
Journal of Community Genetics, 11(2), 183-191. Springer Verlag
Journal of Community Genetics, 11, 183-191
Journal of community genetics, 11(2), 183-191. Springer Verlag
Contains fulltext : 218565.pdf (Publisher’s version ) (Open Access) The new Dutch guidelines on hereditary and familial ovarian carcinoma recommend genetic testing of all patients with epithelial ovarian cancer (EOC). With this study, we aimed to o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d41c06cd61f8ef6a8e3458960760585f
https://hdl.handle.net/11370/cba29a37-a317-4c15-88ce-435b808fdf42
https://hdl.handle.net/11370/cba29a37-a317-4c15-88ce-435b808fdf42
Autor:
I.S.H. Kloots, M. Kets, J. Schuurs-Hoeijmakers, H. Westdorp, M. Coskunturk, H. Bloemendal, W.R. Gerritsen, I.M. van Oort, M. Ligtenberg, N. Mehra
Publikováno v:
Annals of Oncology. 33:S1179
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e12577cbd54c7d584e436f5c1de21d7
https://doi.org/10.1016/j.annonc.2022.07.1523
https://doi.org/10.1016/j.annonc.2022.07.1523
Autor:
Mia M Gaudet, Karoline B Kuchenbaecker, Joseph Vijai, Robert J Klein, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Alison M Dunning, Andrew Lee, Joe Dennis, Sue Healey, Ed Dicks, Penny Soucy, Olga M Sinilnikova, Vernon S Pankratz, Xianshu Wang, Ronald C Eldridge, Daniel C Tessier, Daniel Vincent, Francois Bacot, Frans B L Hogervorst, Susan Peock, Dominique Stoppa-Lyonnet, KConFab Investigators, Paolo Peterlongo, Rita K Schmutzler, Katherine L Nathanson, Marion Piedmonte, Christian F Singer, Mads Thomassen, Ontario Cancer Genetics Network, Thomas v O Hansen, Susan L Neuhausen, Ignacio Blanco, Mark H Greene, Judith Garber, Jeffrey N Weitzel, Irene L Andrulis, David E Goldgar, Emma D'Andrea, Trinidad Caldes, Heli Nevanlinna, Ana Osorio, Elizabeth J van Rensburg, Adalgeir Arason, Gad Rennert, Ans M W van den Ouweland, Annemarie H van der Hout, Carolien M Kets, Cora M Aalfs, Juul T Wijnen, Margreet G E M Ausems, HEBON, EMBRACE, Debra Frost, Steve Ellis, Elena Fineberg, Radka Platte, D Gareth Evans, Chris Jacobs, Julian Adlard, Marc Tischkowitz, Mary E Porteous, Francesca Damiola, GEMO Study Collaborators, Lisa Golmard, Laure Barjhoux, Michel Longy, Muriel Belotti, Sandra Fert Ferrer, Sylvie Mazoyer, Amanda B Spurdle, Siranoush Manoukian, Monica Barile, Maurizio Genuardi, Norbert Arnold, Alfons Meindl, Christian Sutter, Barbara Wappenschmidt, Susan M Domchek, Georg Pfeiler, Eitan Friedman, Uffe Birk Jensen, Mark Robson, Sohela Shah, Conxi Lazaro, Phuong L Mai, Javier Benitez, Melissa C Southey, Marjanka K Schmidt, Peter A Fasching, Julian Peto, Manjeet K Humphreys, Qin Wang, Kyriaki Michailidou, Elinor J Sawyer, Barbara Burwinkel, Pascal Guénel, Stig E Bojesen, Roger L Milne, Hermann Brenner, Magdalena Lochmann, GENICA Network, Kristiina Aittomäki, Thilo Dörk, Sara Margolin, Arto Mannermaa, Diether Lambrechts, Jenny Chang-Claude, Paolo Radice, Graham G Giles, Christopher A Haiman, Robert Winqvist, Peter Devillee, Montserrat García-Closas, Nils Schoof, Maartje J Hooning, Angela Cox, Paul D P Pharoah, Anna Jakubowska, Nick Orr, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Per Hall, Fergus J Couch, Jacques Simard, David Altshuler, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Kenneth Offit
Publikováno v:
PLoS Genetics, Vol 9, Iss 3, p e1003173 (2013)
Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breas
Externí odkaz:
https://doaj.org/article/f45b7c806857476fa2644c704c807fc3
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
T.M. Mooij, Daniel Barrowdale, Christoph Engel, Yen Y. Tan, Christian F. Singer, Shirley Hodgson, Trinidad Caldés, Rosemarie Davidson, Karoline Kuchenbaecker, Sarah Jervis, Wendy K. Chung, D. Gareth Evans, Daniel R. Barnes, Jean-Pierre Fricker, Debra Frost, Dominique Stoppa-Lyonnet, Marc Tischkowitz, Nadine Andrieu, Edith Olah, Lesley McGuffog, Douglas F. Easton, Ana Osorio, Kelly-Anne Phillips, Lenka Foretova, Catherine Noguès, Mary B. Daly, Michael Friedlander, Julian Adlard, Karin Kast, Saundra S. Buys, Steve Ellis, Carolien M. Kets, Maartje J. Hooning, Esther M. John, Eva Machackova, Marie-José Roos-Blom, Muriel A. Adank, Brita Arver, John L. Hopper, Flora E. van Leeuwen, Sue-Anne McLachlan, Pascaline Berthet, Irene L. Andrulis, Kai-ren Ong, Ros Eeles, Antonis C. Antoniou, Louise Izatt, Melissa C. Southey, Mary Beth Terry, Laurence Faivre, David E. Goldgar, Anna Jakubowska, Roger L. Milne, Christine Lasset, Anne-Marie Gerdes, Håkan Olsson, Rita K. Schmutzler, Jacques Simard, Matti A. Rookus, Lizet E. van der Kolk
Publikováno v:
Jama : Journal of the American Medical Association, 317, 23, pp. 2402-2416
JAMA, 317(23), 2402-2416. American Medical Association
Jama : Journal of the American Medical Association, 317, 2402-2416
Kuchenbaecker, K B, Hopper, J L, Barnes, D R, Phillips, K-A, Mooij, T M, Roos-Blom, M-J, Jervis, S, McGuffog, L, Evans, D, Barrowdale, D, Frost, D, Adlard, J, Ong, K, Izatt, L, Tischkowitz, M, Eeles, R, Davidson, R, Hodgson, S, Ellis, S, Nogues, C, Lasset, C, Stoppa-Lyonnet, D, Fricker, J-P, Faivre, L, Berthet, P, Hooning, M J, van der Kolk, L, Kets, C M, Adank, M A, John, E M, Chung, W K, Andrulis, I L, Southey, M, Daly, M B, Buys, S S, Osorio, A, Engel, C, Kast, K, Schmutzler, R K, Caldes, T, Jakubowska, A, Simard, J, Friedlander, M L, McLachlan, S A, Machackova, E, Foretova, L, Tan, Y Y, Singer, C F, Olah, E, Gerdes, A-M, Arver, B, Olsson, H, van Leeuwen, F E, Milne, R L, Andrieu, N, Goldgar, D E, Terry, M B, Rookus, M A, Easton, D F & Antoniou, A C 2017, ' Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers ', JAMA: The Journal of the American Medical Association . https://doi.org/10.1001/jama.2017.7112
JAMA, 317(23), 2402-2416. American Medical Association
Jama : Journal of the American Medical Association, 317, 2402-2416
Kuchenbaecker, K B, Hopper, J L, Barnes, D R, Phillips, K-A, Mooij, T M, Roos-Blom, M-J, Jervis, S, McGuffog, L, Evans, D, Barrowdale, D, Frost, D, Adlard, J, Ong, K, Izatt, L, Tischkowitz, M, Eeles, R, Davidson, R, Hodgson, S, Ellis, S, Nogues, C, Lasset, C, Stoppa-Lyonnet, D, Fricker, J-P, Faivre, L, Berthet, P, Hooning, M J, van der Kolk, L, Kets, C M, Adank, M A, John, E M, Chung, W K, Andrulis, I L, Southey, M, Daly, M B, Buys, S S, Osorio, A, Engel, C, Kast, K, Schmutzler, R K, Caldes, T, Jakubowska, A, Simard, J, Friedlander, M L, McLachlan, S A, Machackova, E, Foretova, L, Tan, Y Y, Singer, C F, Olah, E, Gerdes, A-M, Arver, B, Olsson, H, van Leeuwen, F E, Milne, R L, Andrieu, N, Goldgar, D E, Terry, M B, Rookus, M A, Easton, D F & Antoniou, A C 2017, ' Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers ', JAMA: The Journal of the American Medical Association . https://doi.org/10.1001/jama.2017.7112
Item does not contain fulltext Importance: The clinical management of BRCA1 and BRCA2 mutation carriers requires accurate, prospective cancer risk estimates. Objectives: To estimate age-specific risks of breast, ovarian, and contralateral breast canc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3f2558bb2dbc69b1a74b204cc16a4c0
https://doi.org/10.1001/jama.2017.7112
https://doi.org/10.1001/jama.2017.7112
Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer
Autor:
Caroline Seynaeve, Katja Harbst, Eric A. Ross, Nandita Mitra, Elisa Alducci, Marco Montagna, Janusz Menkiszak, Marion Gauthier-Villars, Javier Benitez, Carole Brewer, Etienne Rouleau, Inge Søkilde Pedersen, Orland Diez, Anya Kushnir, Antonis C. Antoniou, Christine Rappaport, Florentia Fostira, Maurizio Genuardi, Simona Agata, Mark H. Greene, Mary Beth Terry, Nicola Dikow, David E. Goldgar, Anna Jakubowska, Min Hyuk Lee, Sylvie Mazoyer, Diana Eccles, Shirley Hodgson, Anne-Marie Gerdes, Alexander Miron, Laima Tihomirova, Alan Donaldson, Adalgeir Arason, Rosalind A. Eeles, Fergus J. Couch, Hans Jörg Plendl, Francesca Vignolo-Lutati, Ute Hamann, Jackie Cook, Torben A Kruse, Shani Paluch-Shimon, Lisa Walker, Doris Steinemann, Dorothea Gadzicki, Juul T. Wijnen, Markus C. Fleisch, Kenneth Offit, Mary B. Daly, Jamal Zidan, Georgia Chenevix-Trench, Stephanie V. Blank, Marc Tischkowitz, Esther Darder, Annette Fontaine, Louise Izatt, Elżbieta Złowocka-Perłowska, Nadia Boutry-Kryza, Frans B. L. Hogervorst, Stefanie Engert, Danièle Muller, Susan M. Domchek, Phuong L. Mai, Senno Verhoef, Bernhard H. F. Weber, Cecilia M. Dorfling, Kathleen Claes, Kristiina Aittomäki, Annemarie H. van der Hout, Sharon Sand, Olufunmilayo I. Olopade, Margreet G. E. M. Ausems, Aleksandra Tołoczko-Grabarek, Trevor Cole, Giulietta Scuvera, Ana Osorio, Niklas Loman, Timothy R. Rebbeck, Riccardo Dolcetti, Marit Beer, Harsh B. Pathak, Douglas F. Easton, Lone Sunde, Conxi Lázaro, Raanan Berger, Paolo Radice, Mads Thomassen, Ignacio Blanco, Joseph Vijai, Kristie Bobolis, János Papp, Jean-Pierre Fricker, Christine Walsh, Patricia A. Ganz, Marie Stenmark-Askmalm, Andrea Gehrig, Vernon S. Pankratz, Atocha Romero, Xianshu Wang, Loris Bernard, Viviana Gismondi, Mary Porteous, Muy-Kheng Tea, Karen H. Lu, Gustavo C. Rodriguez, Bernardo Bonanni, Christoph Mundhenke, Julian Adlard, Bent Ejlertsen, Dominique Stoppa-Lyonnet, Nadine Tung, Patrick J. Morrison, Dezheng Huo, Cezary Cybulski, Jack Basil, Georg Pfeiler, Daphne Gschwantler-Kaulich, Heli Nevanlinna, Anders Bojesen, Marion Piedmonte, Katherine L. Nathanson, Amanda E. Toland, Sung-Won Kim, Judy Garber, Amanda B. Spurdle, Noralane M. Lindor, Sanne Traasdahl Moeller, Hans Ehrencrona, Trinidad Caldés, Rosemarie Davidson, Karin Kast, Jenny Lester, Shan Wang-Gohrke, Norbert Arnold, Ana Peixoto, Christine Lasset, Andreas Berger, Olga M. Sinilnikova, Katie Wakely, Claude Houdayer, Mercedes Durán, Robert L. Nussbaum, Ramūnas Janavičius, Christina G. Selkirk, Paolo Aretini, Nina Ditsch, J. Margriet Collée, Rosa B. Barkardottir, Sue Healey, Tomasz Huzarski, Cora M. Aalfs, Gillian Mitchell, Peter J. Hulick, Encarna B. Gomez Garcia, Zakaria Einbeigi, Christian F. Singer, Leigha Senter, Yuan Chun Ding, Dieter Niederacher, Yael Laitman, Siranoush Manoukian, Christoph Engel, Anne De Paepe, Anneliese Fink-Retter, Irene L. Andrulis, Rachel Laframboise, Maria A. Caligo, Priyanka Sharma, Miguel de la Hoya, Teresa Ramón y Cajal, Bruce Poppe, Thomas Hansen, Francesca Damiola, Anne-Bine Skytte, Susan L. Neuhausen, Christian Sutter, Marie-Agnès Collonge-Rame, Johannes J. P. Gille, Barbara Pasini, Wendy K. Chung, Noah D. Kauff, M. John Kennedy, Diana Torres, Salina B. Chan, Mark E. Robson, Elizabeth J. van Rensburg, Eric Hahnen, Barbara Wappenschmidt, Grzegorz Sukiennicki, Esther M. John, Rohini Rau-Murthy, Alice S. Whittemore, Kunle Odunsi, Masoud Azodi, John F. Boggess, Sue K. Park, Rita K. Schmutzler, Muriel Belotti, Jeffrey N. Weitzel, Simon A. Gayther, Fei Wan, Andrew K. Godwin, Arjen R. Mensenkamp, Daniela Zaffaroni, Jacques Simard, Susan Peock, Soo Hwang Teo, Claus R. Bartram, Evgeny N. Imyanitov, Maria-Isabel Tejada, Giuseppe Giannini, Mónica Salinas, Banu Arun, Jan C. Oosterwijk, Jacek Gronwald, Alexandra Becker, Tara M. Friebel, Lenka Foretova, Catherine Noguès, Muhammad Usman Rashid, Valeria Pensotti, Antonella Savarese, Debra Frost, Beatrice Melin, Drakoulis Yannoukakos, Steve Ellis, Jean-Philippe Peyrat, Hagay Sobol, Kim De Leeneer, Radka Platte, Jan Lubinski, Javier Godino, Lesley McGuffog, Tomasz Byrski, Claudine Isaacs, Johanna Rantala, Kelly-Anne Phillips, Carolien M. Kets, Uffe Birk Jensen, Katarzyna Durda, Linda Steele, Beth Y. Karlan, Ava Kwong, Alfons Meindl, Lucia Guidugli, Raymonda Varon-Mateeva, D. Gareth Evans, Edith Olah, Isabelle Mortemousque, Manuel R. Teixeira, Joyce Seldon, Katarzyna Jaworska-Bieniek, Bernard Peissel, Saundra S. Buys, Peter Devilee, Kerstin Rhiem, Eitan Friedman
Publikováno v:
BASE-Bielefeld Academic Search Engine
Rebbeck, T R, Mitra, N, Wan, F, Sinilnikova, O M, Healey, S, McGuffog, L, Mazoyer, S, Chenevix-Trench, G, Easton, D F, Antoniou, A C, Nathanson, K L, Laitman, Y, Kushnir, A, Paluch-Shimon, S, Berger, R, Zidan, J, Friedman, E, Ehrencrona, H, Stenmark-Askmalm, M, Einbeigi, Z, Loman, N, Harbst, K, Rantala, J, Melin, B, Huo, D, Olopade, O I, Seldon, J, Ganz, P A, Nussbaum, R L, Chan, S B, Odunsi, K, Gayther, S A, Domchek, S M, Arun, B K, Lu, K H, Mitchell, G, Karlan, B Y, Walsh, C, Lester, J, Godwin, A K, Pathak, H, Ross, E, Gerdes, A-M, Hansen, T V O, Bojesen, A, Thomassen, M, Moeller, S T, Kruse, T A, Pedersen, I S, Skytte, A-B & CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', J A M A: The Journal of the American Medical Association, vol. 313, no. 13, pp. 1347-1361 . https://doi.org/10.1001/jama.2014.5985
JAMA-Journal of the American Medical Association, 313(13), 1347-1361. American Medical Association
JAMA-Journal of the American Medical Association, 313(13), 1347-1361. AMER MEDICAL ASSOC
Digital.CSIC. Repositorio Institucional del CSIC
instname
Jama : Journal of the American Medical Association, 313, 13, pp. 1347-61
JAMA, 313(13), 1347-1361. American Medical Association
Rebbeck, T R, Mitra, N, Wan, F, Sinilnikova, O M, Healey, S, McGuffog, L, Mazoyer, S, Chenevix-Trench, G, Easton, D F, Antoniou, A C, Nathanson, K L, Laitman, Y, Kushnir, A, Paluch-Shimon, S, Berger, R, Zidan, J, Friedman, E, Ehrencrona, H, Stenmark-Askmalm, M, Einbeigi, Z, Loman, N, Harbst, K, Rantala, J, Melin, B, Huo, D, Olopade, O I, Seldon, J, Ganz, P A, Nussbaum, R L, Chan, S B, Odunsi, K, Gayther, S A, Domchek, S M, Arun, B K, Lu, K H, Mitchell, G, Karlan, B Y, Walsh, C, Lester, J, Godwin, A K, Pathak, H, Ross, E, Daly, M B, Whittemore, A S, John, E M, Miron, A, Terry, M B, Chung, W K, Goldgar, D E, Pedersen, I S & CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', JAMA: The Journal of the American Medical Association, vol. 313, no. 13, pp. 1347-61 . https://doi.org/10.1001/jama.2014.5985
CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', JAMA, vol. 313, no. 13, pp. 1347-61 . https://doi.org/10.1001/jama.2014.5985
Jama : Journal of the American Medical Association, 313, 1347-61
Rebbeck, T R, Mitra, N, Wan, F, Sinilnikova, O M, Healey, S, McGuffog, L, Mazoyer, S, Chenevix-Trench, G, Easton, D F, Antoniou, A C, Nathanson, K L, Laitman, Y, Kushnir, A, Paluch-Shimon, S, Berger, R, Zidan, J, Friedman, E, Ehrencrona, H, Stenmark-Askmalm, M, Einbeigi, Z, Loman, N, Harbst, K, Rantala, J, Melin, B, Huo, D, Olopade, O I, Seldon, J, Ganz, P A, Nussbaum, R L, Chan, S B, Odunsi, K, Gayther, S A, Domchek, S M, Arun, B K, Lu, K H, Mitchell, G, Karlan, B Y, Walsh, C, Lester, J, Godwin, A K, Pathak, H, Ross, E, Daly, M B, Whittemore, A S, John, E M, Miron, A, Pedersen, I S, Skytte, A-B, Sunde, L, Jensen, U B & CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', JAMA: The Journal of the American Medical Association, vol. 313, no. 13, pp. 1347-61 . https://doi.org/10.1001/jama.2014.5985
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
JAMA, 313(13), 1347-61. American Medical Association
Rebbeck, T R, Mitra, N, Wan, F, Sinilnikova, O M, Healey, S, McGuffog, L, Mazoyer, S, Chenevix-Trench, G, Easton, D F, Antoniou, A C, Nathanson, K L, Laitman, Y, Kushnir, A, Paluch-Shimon, S, Berger, R, Zidan, J, Friedman, E, Ehrencrona, H, Stenmark-Askmalm, M, Einbeigi, Z, Loman, N, Harbst, K, Rantala, J, Melin, B, Huo, D, Olopade, O I, Seldon, J, Ganz, P A, Nussbaum, R L, Chan, S B, Odunsi, K, Gayther, S A, Domchek, S M, Arun, B K, Lu, K H, Mitchell, G, Karlan, B Y, Walsh, C, Lester, J, Godwin, A K, Pathak, H, Ross, E, Gerdes, A-M, Hansen, T V O, Bojesen, A, Thomassen, M, Moeller, S T, Kruse, T A, Pedersen, I S, Skytte, A-B & CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', J A M A: The Journal of the American Medical Association, vol. 313, no. 13, pp. 1347-1361 . https://doi.org/10.1001/jama.2014.5985
JAMA-Journal of the American Medical Association, 313(13), 1347-1361. American Medical Association
JAMA-Journal of the American Medical Association, 313(13), 1347-1361. AMER MEDICAL ASSOC
Digital.CSIC. Repositorio Institucional del CSIC
instname
Jama : Journal of the American Medical Association, 313, 13, pp. 1347-61
JAMA, 313(13), 1347-1361. American Medical Association
Rebbeck, T R, Mitra, N, Wan, F, Sinilnikova, O M, Healey, S, McGuffog, L, Mazoyer, S, Chenevix-Trench, G, Easton, D F, Antoniou, A C, Nathanson, K L, Laitman, Y, Kushnir, A, Paluch-Shimon, S, Berger, R, Zidan, J, Friedman, E, Ehrencrona, H, Stenmark-Askmalm, M, Einbeigi, Z, Loman, N, Harbst, K, Rantala, J, Melin, B, Huo, D, Olopade, O I, Seldon, J, Ganz, P A, Nussbaum, R L, Chan, S B, Odunsi, K, Gayther, S A, Domchek, S M, Arun, B K, Lu, K H, Mitchell, G, Karlan, B Y, Walsh, C, Lester, J, Godwin, A K, Pathak, H, Ross, E, Daly, M B, Whittemore, A S, John, E M, Miron, A, Terry, M B, Chung, W K, Goldgar, D E, Pedersen, I S & CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', JAMA: The Journal of the American Medical Association, vol. 313, no. 13, pp. 1347-61 . https://doi.org/10.1001/jama.2014.5985
CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', JAMA, vol. 313, no. 13, pp. 1347-61 . https://doi.org/10.1001/jama.2014.5985
Jama : Journal of the American Medical Association, 313, 1347-61
Rebbeck, T R, Mitra, N, Wan, F, Sinilnikova, O M, Healey, S, McGuffog, L, Mazoyer, S, Chenevix-Trench, G, Easton, D F, Antoniou, A C, Nathanson, K L, Laitman, Y, Kushnir, A, Paluch-Shimon, S, Berger, R, Zidan, J, Friedman, E, Ehrencrona, H, Stenmark-Askmalm, M, Einbeigi, Z, Loman, N, Harbst, K, Rantala, J, Melin, B, Huo, D, Olopade, O I, Seldon, J, Ganz, P A, Nussbaum, R L, Chan, S B, Odunsi, K, Gayther, S A, Domchek, S M, Arun, B K, Lu, K H, Mitchell, G, Karlan, B Y, Walsh, C, Lester, J, Godwin, A K, Pathak, H, Ross, E, Daly, M B, Whittemore, A S, John, E M, Miron, A, Pedersen, I S, Skytte, A-B, Sunde, L, Jensen, U B & CIMBA Consortium 2015, ' Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer ', JAMA: The Journal of the American Medical Association, vol. 313, no. 13, pp. 1347-61 . https://doi.org/10.1001/jama.2014.5985
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
JAMA, 313(13), 1347-61. American Medical Association
CIMBA Consortium et al.
PMID: 25849179
[Importance]: Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. [Objective]: To identify mutation-specific cancer risks for carri
PMID: 25849179
[Importance]: Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. [Objective]: To identify mutation-specific cancer risks for carri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0415ece5c738d9598312bc28311732ca
https://doi.org/10.1001/jama.2014.5985
https://doi.org/10.1001/jama.2014.5985
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Marco Montagna, Bruno Buecher, Goska Leslie, Daniel Barrowdale, Anita Bane, Louise Izatt, Eitan Friedman, Yosr Hamdi, Kenneth Offit, Klaartje van Engelen, Soo Hwang Teo, Frans B. L. Hogervorst, Conxi Lázaro, Sylvie Mazoyer, Diana Eccles, Yuan Chun Ding, Laura Papi, Georgia Chenevix-Trench, Katarzyna Kaczmarek, Laima Tihomirova, Jacek Gronwald, Jocelyne Chiquette, Patricia A. Ganz, Thomas P. Slavin, Kathleen Claes, Paolo Radice, Elizabeth J. van Rensburg, Adalgeir Arason, Lenka Foretova, Milena Mariani, Johanna Rantala, Pascaline Berthet, Evgeny N. Imyanitov, Claudine Isaacs, Esther M. John, Maite Laurent, Irene L. Andrulis, Juul T. Wijnen, Paolo Peterlongo, Susan M. Domchek, Banu Arun, Amanda E. Toland, Anna Marie Mulligan, Penny Soucy, Kristiina Aittomäki, Orland Diez, Heli Nevanlinna, Anne-Marie Gerdes, Austin Miller, Olufunmilayo I. Olopade, Raymonda Varon-Mateeva, Alfons Meindl, Cecilia M. Dorfling, Niklas Loman, Paul A. James, Susan L. Neuhausen, Muy Kheng Tea, Inge Søkilde Pedersen, Arnaud Droit, D. Gareth Evans, Mark E. Robson, Jennifer T. Loud, Jan C. Oosterwijk, Judy Garber, Douglas F. Easton, Jacques Simard, Mark H. Greene, Pamela S. Ganschow, Edith Olah, Audrey Lemaçon, Norbert Arnold, Catherine M. Phelan, Gad Rennert, Judy Kirk, Johanna Sokolowska, Tomi Pastinen, Robert L. Nussbaum, Simon A. Gayther, Karoline B. Kuchenbaeker, Mads Thomassen, Ros Eeles, Riccardo Dolcetti, Hanne Meijers-Heijboer, Marc Tischkowitz, George Fountzilas, Laure Barjhoux, Kristie Bobolis, Christoph Engel, Bernardo Bonanni, Sue K. Park, Beth Y. Karlan, Nicolas Sevenet, Bent Ejlertsen, Wendy K. Chung, Timothy R. Rebbeck, Amanda B. Spurdle, Peter J. Hulick, Mary B. Daly, Yen Y. Tan, Annelie Liljegren, Carolien M. Kets, Miguel de la Hoya, Gord Glendon, Mieke Kriege, Rita K. Schmutzler, Manuel R. Teixeira, Christine Rappaport-Fuerhauser, Pedro Pérez Segura, William D. Foulkes, Rosemarie Davidson, Steven N. Hart, Javier Benitez, Jenny Lester, Melissa C. Southey, Ramunas Janavicius, Uffe Birk Jensen, Zakaria Einbeigi, Christian F. Singer, Jacopo Azzollini, Alex Teulé, David E. Goldgar, Ans M.W. van den Ouweland, Anna Jakubowska, Angela R. Bradbury, Dominique Stoppa-Lyonnet, Carole Brewer, Zsofia K. Stadler, Nadine Tung, Eric Hahnen, Vijai Joseph, Grzegorz Sukiennicki, Siranoush Manoukian, Debra Frost, Maria A. Caligo, Andrew K. Godwin, Christian Sutter, Bernard Peissel, Andrea L. Richardson, Kim De Leeneer, Antonis C. Antoniou, Florentia Fostira, Lesley McGuffog, Matti A. Rookus, Mary Beth Terry, Saundra S. Buys, Fabienne Lesueur, Gustavo C. Rodriguez, Julian Adlard, Barbara Wappenschmidt, Marinus J. Blok, Yael Laitman, Rob B. van der Luijt, Thomas Hansen, Francesca Damiola, Katherine L. Nathanson, Silje Nord, Kai Ren Ong, Ana Osorio, Katie Snape, Fergus J. Couch, John L. Hays, Walter Just, Ute Hamann, Silvia Tognazzo, Payal D. Shah, Valérie Bonadona, Ida Marie Heeholm Sonderstrup, Lídia Feliubadaló
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Breast Cancer Research and Treatment, 161(1), 117-134. Springer, Cham
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Foretova, L, Fostira, F, Pedersen, I S & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment, 161(1), 117-134. Springer New York
Breast Cancer Research and Treatment, 161, 1, pp. 117-134
Breast Cancer Research and Treatment, 161, 117-134
Hamdi, Y; Soucy, P; Kuchenbaeker, KB; Pastinen, T; Droit, A; Lemacon, A; et al.(2017). Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. BREAST CANCER RESEARCH AND TREATMENT, 161(1), 117-134. doi: 10.1007/s10549-016-4018-2. UCLA: Retrieved from: http://www.escholarship.org/uc/item/03k1w9cm
Breast Cancer Research and Treatment, 161(1), 117-134
Breast Cancer Research and Treatment, 161(1), 117. Springer New York
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Foretova, L, Jensen, U B, Pedersen, I S & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117–134 . https://doi.org/10.1007/s10549-016-4018-2
Breast cancer research and treatment, 161(1), 117-134. Springer New York
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Azzollini, J, Arun, B K, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K A, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, de la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, EMBRACE, Engel, C, Gareth Evans, D, Feliubadaló, L, Foretova, L, Fostira, F, Gerdes, A-M, Easton, D F, Antoniou, A C & Simard, J 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
kConFab Investigators, HEBON, GEMO Study Collaborators & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
BREAST CANCER RESEARCH AND TREATMENT
Repisalud
Instituto de Salud Carlos III (ISCIII)
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Meijers-Heijboer, H E J, Oosterwijk, J C, van Engelen, K, EMBRACE, GEMO Study Collaborators, HEBON & KConFab Investigators 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benítez, J, Berthet, P, Blok, M J, Bobolis, K A, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, de la Hoya, M, De Leeneer, K, Díez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadaló, L, Foretova, L, Gerdes, A-M, Thomassen, M & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment, 161(1), 117-134. SPRINGER
Consejería de Sanidad de la Comunidad de Madrid
Breast Cancer Research and Treatment, 161(1), 117-134. Springer, Cham
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Foretova, L, Fostira, F, Pedersen, I S & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment, 161(1), 117-134. Springer New York
Breast Cancer Research and Treatment, 161, 1, pp. 117-134
Breast Cancer Research and Treatment, 161, 117-134
Hamdi, Y; Soucy, P; Kuchenbaeker, KB; Pastinen, T; Droit, A; Lemacon, A; et al.(2017). Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. BREAST CANCER RESEARCH AND TREATMENT, 161(1), 117-134. doi: 10.1007/s10549-016-4018-2. UCLA: Retrieved from: http://www.escholarship.org/uc/item/03k1w9cm
Breast Cancer Research and Treatment, 161(1), 117-134
Breast Cancer Research and Treatment, 161(1), 117. Springer New York
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Foretova, L, Jensen, U B, Pedersen, I S & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117–134 . https://doi.org/10.1007/s10549-016-4018-2
Breast cancer research and treatment, 161(1), 117-134. Springer New York
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Azzollini, J, Arun, B K, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K A, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, de la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, EMBRACE, Engel, C, Gareth Evans, D, Feliubadaló, L, Foretova, L, Fostira, F, Gerdes, A-M, Easton, D F, Antoniou, A C & Simard, J 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
kConFab Investigators, HEBON, GEMO Study Collaborators & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
BREAST CANCER RESEARCH AND TREATMENT
Repisalud
Instituto de Salud Carlos III (ISCIII)
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Meijers-Heijboer, H E J, Oosterwijk, J C, van Engelen, K, EMBRACE, GEMO Study Collaborators, HEBON & KConFab Investigators 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benítez, J, Berthet, P, Blok, M J, Bobolis, K A, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, de la Hoya, M, De Leeneer, K, Díez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadaló, L, Foretova, L, Gerdes, A-M, Thomassen, M & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment, 161(1), 117-134. SPRINGER
PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba8cf2d9bb045cb1dbafc6fe95cfcd7b
https://hdl.handle.net/20.500.12530/33541
https://hdl.handle.net/20.500.12530/33541
Autor:
H. Van Parys, E. Wyverkens, V. Provoost, A. Ravelingien, I. Raes, S. Somers, I. Stuyver, P. De Sutter, G. Pennings, A. Buysse, V. S. Anttila, M. Salevaara, A. M. Suikkari, D. R. Listijono, S. Mooney, M. G. Chapman, U. Res Muravec, S. Pusica, M. Lomsek, M. Cizek Sajko, S. Parames, L. Semiao-Francisco, H. Sato, J. Ueno, L. van den Wijngaard, M. H. Mochtar, H. van Dam, F. van der Veen, M. van Wely, I. A. P. Derks-Smeets, J. J. G. Habets, A. Tibben, V. C. G. Tjan-Heijnen, M. Meijer-Hoogeveen, J. P. M. Geraedts, R. van Golde, E. Gomez-Garcia, C. E. M. de Die-Smulders, L. A. D. M. van Osch, C. M. Kets, S. Gullo, Z. Donarelli, G. L. Coco, A. Marino, A. Volpes, F. Sammartano, A. Allegra, J. Nekkebroeck, H. Tournaye, D. Stoop, G. Lo Coco, F. Coffaro, D. G. Diaz, M. A. Gonzalez, M. Tirado, S. Chamorro, P. Dolz, M. A. Gil, A. Ballesteros, E. Velilla, C. Castello, N. Moina, M. Lopez-Teijon, C. H. Y. Chan, C. L. W. Chan, M. K. H. Leong, I. K. M. Cheung, T. H. Y. Chan, B. N. L. Hui, A. J. C. M. van Dongen, A. G. Huppelschoten, J. A. M. Kremer, W. L. D. M. Nelen, C. M. Verhaak, H. G. Sun, K. H. Lee, I. H. Park, S. G. Kim, J. H. Lee, Y. Y. Kim, H. J. Kim, J. D. Cho, Y. J. Yoo, V. Frokjaer, A. Pinborg, E. C. Larsen, M. Heede, D. S. Stenbaek, S. Henningsson, A. P. Nielsen, C. Svarer, K. K. Holst, G. M. Knudsen, M. Emery, L. DeJonckheere, S. Rothen, M. Wisard, M. Germond, M. Toftager, L. V. Hjordt, P. S. Jensen, K. Holst, T. Holland, T. Bryndorf, J. Bogstad, P. Hornnes, V. G. Frokjaer, L. M. N. Dornelles, F. MacCallum, R. C. S. Lopes, C. A. Piccinini, E. P. Passos, C. Bruegge, P. Thorn, K. Daniels, S. Imrie, V. Jadva, S. Golombok, Y. Arens, G. De Krom, R. J. T. Van Golde, E. Coonen, C. M. A. Van Ravenswaaij-Arts, J. L. H. Evers, C. E. M. De Die-Smulders, G. Ghazeeri, J. Awwad, A. Fakih, H. Abbas, S. Harajly, L. Tawidian, F. Maalouf, D. Ajdukovic, M. Pibernik-Okanovic, M. S. Alebic, G. Baccino, C. Calatayud, E. Ricciarelli, E. R. H. de Miguel, K. Wierckx, H. Verstraelen, L. Van Glabeke, E. Van den Abbeel, J. Gerris, G. T'Sjoen, B. Monica, R. N. Calonge, P. C. Peregrin, R. Cserepes, J. Kollar, T. Wischmann, A. Bugan, C. Pinkard, C. Harrison, L. Bunting, J. Boivin, B. Fulford, N. Theusink-Kirchhoff, C. M. A. van Ravenswaaij-Arts, M. K. Bakker, C. Volks, Z. Papaligoura, D. Papadatou, T. H. Bellali, S. Jarvholm, M. Broberg, A. Thurin-Kjellberg, G. Weitzman, T. M. Van Der Putten-Landau, S. Chudnoff, E. Panagopoulou, B. Tarlatzis, V. Tamhankar, G. L. Jones, P. Magill, J. D. Skull, W. Ledger, H. W. Hvidman, I. O. Specht, K. T. Schmidt, A. N. Andersen, T. Freeman, S. Zadeh, V. Smith, L. H. R. Whitaker, J. Reid, J. Wilson, H. O. D. Critchley, A. W. Horne, B. Peterson, M. Pirritano, L. Schmidt, H. Volgsten, N. Hudson, L. Culley, C. Law, E. Denny, H. Mitchell, M. Baumgarten, N. Raine-Fenning, L. Blake, K. H. Kim
Publikováno v:
Human Reproduction. 28:i261-i282
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::78319ca8589afc477c69f19360bef3f3
https://doi.org/10.1093/humrep/det218
https://doi.org/10.1093/humrep/det218
Autor:
B. van Lier, Luis A. Pérez-Jurado, Alexander Hoischen, Periklis Makrythanasis, I. van der Burgt, Ann Nordgren, Alexandre Reymond, Britt-Marie Anderlid, M. del Campo, Ivon Cuscó, L. Toledo, Jacqueline Schoumans, C. M. Kets, B W M van Bon, Michael A. Simpson, M. Ruiterkamp-Versteeg, Juliette Dupont, Margherita Silengo, E. Frysira, L. Izatt, Lucia Micale, Willie Reardon, Stavroula Psoni, Patricia Dias, Helger G. Yntema, Nicole Revencu, Joris A. Veltman, Bartolomeo Augello, Juliane Hoyer, Isabel Cordeiro, Tony Roscioli, Giuseppe Merla, Ernie M.H.F. Bongers, M. Bhat, Christian Gilissen, Stylianos E. Antonarakis, H. G. Santos, E. Galan, Elisa Biamino, Peer Arts, Blanca Gener, Shehla Mohammed, A. M. Cueto-Gonzalez, Marloes Steehouwer, Richard C. Trembath, Carlo Marcelis, B. B. A. de Vries, Christiane Zweier, Han G. Brunner, B. Rodriguez-Santiago, Raquel Flores, Charu Deshpande, Janneke H M Schuurs-Hoeijmakers, S. A. de Munnik, Ana Medeira, Teresa Vendrell, David A. Koolen, S. M. Granneman
Publikováno v:
Clinical Genetics. 84:539-545
Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::39eaa9d360ba5272c5f971c1f5c02e9a
https://doi.org/10.1111/cge.12081
https://doi.org/10.1111/cge.12081