학술논문
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The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Academic Journal
Colombo, Mara; Lòpez‐Perolio, Irene; Meeks, Huong D; Caleca, Laura; Parsons, Michael T; Li, Hongyan; Vecchi, Giovanna; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia; Manoukian, Siranoush; Behar, Raquel; Garcia, Encarna B Gómez; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmidt, Ane Y; Varesco, Liliana; Wappenschmidt, Barbara; Bolla, Manjeet K; Dennis, Joe; Michailidou, Kyriaki; Wang, Qin; Aittomäki, Kristiina; Andrulis, Irene L; Anton‐Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly‐Fadel, Alicia; Benitez, Javier; Boeckx, Bram; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Chang‐Claude, Jenny; Conroy, Don M; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Gabrielson, Marike; García‐Closas, Montserrat; Giles, Graham G; González‐Neira, Anna; Guénel, Pascal; Haiman, Christopher A; Hall, Per; Hamann, Ute; Hartman, Mikael; Hauke, Jan; Hollestelle, Antoinette; Hopper, John L; Jakubowska, Anna; Jung, Audrey; Kosma, Veli‐Matti; Lambrechts, Diether; Le Marchand, Loid; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Margolin, Sara; Miao, Hui; Milne, Roger L; Neuhausen, Susan L; Nevanlinna, Heli; Olson, Janet E; Peterlongo, Paolo; Peto, Julian; Pylkäs, Katri; Sawyer, Elinor J; Schmidt, Marjanka K; Schmutzler, Rita K; Schneeweiss, Andreas; Schoemaker, Minouk J; See, Mee Hoong; Southey, Melissa C; Swerdlow, Anthony; Teo, Soo H; Toland, Amanda E; Tomlinson, Ian; Truong, Thérèse; Asperen, Christi J; Ouweland, Ans MW den; der Kolk, Lizet E; Winqvist, Robert; Yannoukakos, Drakoulis; Zheng, Wei; Investigators, kConFab AOCS; Dunning, Alison M; Easton, Douglas F
Human Mutation. 39(5)
Academic Journal
Meeks, Huong D; Song, Honglin; Michailidou, Kyriaki; Bolla, Manjeet K; Dennis, Joe; Wang, Qin; Barrowdale, Daniel; Frost, Debra; EMBRACE; McGuffog, Lesley; Ellis, Steve; Feng, Bingjian; Buys, Saundra S; Hopper, John L; Southey, Melissa C; Tesoriero, Andrea; kConFab Investigators; James, Paul A; Bruinsma, Fiona; Campbell, Ian G; Australia Ovarian Cancer Study Group; Broeks, Annegien; Schmidt, Marjanka K; Hogervorst, Frans BL; HEBON; Beckman, Matthias W; Fasching, Peter A; Fletcher, Olivia; Johnson, Nichola; Sawyer, Elinor J; Riboli, Elio; Banerjee, Susana; Menon, Usha; Tomlinson, Ian; Burwinkel, Barbara; Hamann, Ute; Marme, Frederik; Rudolph, Anja; Janavicius, Ramunas; Tihomirova, Laima; Tung, Nadine; Garber, Judy; Cramer, Daniel; Terry, Kathryn L; Poole, Elizabeth M; Tworoger, Shelley S; Dorfling, Cecilia M; van Rensburg, Elizabeth J; Godwin, Andrew K; Guénel, Pascal; Truong, Thérèse; GEMO Study Collaborators; Stoppa-Lyonnet, Dominique; Damiola, Francesca; Mazoyer, Sylvie; Sinilnikova, Olga M; Isaacs, Claudine; Maugard, Christine; Bojesen, Stig E; Flyger, Henrik; Gerdes, Anne-Marie; Hansen, Thomas VO; Jensen, Allen; Kjaer, Susanne K; Hogdall, Claus; Hogdall, Estrid; Pedersen, Inge Sokilde; Thomassen, Mads; Benitez, Javier; González-Neira, Anna; Osorio, Ana; Hoya, Miguel de la; Segura, Pedro Perez; Diez, Orland; Lazaro, Conxi; Brunet, Joan; Anton-Culver, Hoda; Eunjung, Lee; John, Esther M; Neuhausen, Susan L; Ding, Yuan Chun; Castillo, Danielle; Weitzel, Jeffrey N; Ganz, Patricia A; Nussbaum, Robert L; Chan, Salina B; Karlan, Beth Y; Lester, Jenny; Wu, Anna; Gayther, Simon; Ramus, Susan J; Sieh, Weiva; Whittermore, Alice S; Monteiro, Alvaro NA; Phelan, Catherine M; Terry, Mary Beth; Piedmonte, Marion; Offit, Kenneth; Robson, Mark; Levine, Douglas
Journal of the National Cancer Institute. 108(2)
Academic Journal
Moghadasi, Setareh; Meeks, Huong D; Vreeswijk, Maaike PG; Janssen, Linda AM; Borg, Åke; Ehrencrona, Hans; Paulsson-Karlsson, Ylva; Wappenschmidt, Barbara; Engel, Christoph; Gehrig, Andrea; Arnold, Norbert; Hansen, Thomas Van Overeem; Thomassen, Mads; Jensen, Uffe Birk; Kruse, Torben A; Ejlertsen, Bent; Gerdes, Anne-Marie; Pedersen, Inge Søkilde; Caputo, Sandrine M; Couch, Fergus; Hallberg, Emily J; van den Ouweland, Ans MW; Collée, Margriet J; Teugels, Erik; Adank, Muriel A; van der Luijt, Rob B; Mensenkamp, Arjen R; Oosterwijk, Jan C; Blok, Marinus J; Janin, Nicolas; Claes, Kathleen BM; Tucker, Kathy; Viassolo, Valeria; Toland, Amanda Ewart; Eccles, Diana E; Devilee, Peter; Van Asperen, Christie J; Spurdle, Amanda B; Goldgar, David E; García, Encarna Gómez
Journal of Medical Genetics. Jan 01, 2018 55(1):15-20
Periodical
Moghadasi, Setareh; Meeks, Huong D; Vreeswijk, Maaike PG; Janssen, Linda AM; Borg, Åke; Ehrencrona, Hans; Paulsson-Karlsson, Ylva; Wappenschmidt, Barbara; Engel, Christoph; Gehrig, Andrea; Arnold, Norbert; Hansen, Thomas Van Overeem; Thomassen, Mads; Jensen, Uffe Birk; Kruse, Torben A; Ejlertsen, Bent; Gerdes, Anne-Marie; Pedersen, Inge Søkilde; Caputo, Sandrine M; Couch, Fergus; Hallberg, Emily J; van den Ouweland, Ans MW; CollÅée, Margriet J; Teugels, Erik; Adank, Muriel A; van der Luijt, Rob B; Mensenkamp, Arjen R; Oosterwijk, Jan C; Blok, Marinus J; Janin, Nicolas; Claes, Kathleen BM; Tucker, Kathy; Viassolo, Valeria; Toland, Amanda Ewart; Eccles, Diana E; Devilee, Peter; Van Asperen, Christie J; Spurdle, Amanda B; Goldgar, David E; GarcÅéóía, Encarna GÅéómez
Journal of Medical Genetics (JMG); 2018, Vol. 55 Issue: 1 p15-20, 6p
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