未登录.png)
分享.png)
收藏Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction基因组测序揭示了皮质发育畸形和免疫功能障碍中的CCDC88A变异。
Lehtonen, Johanna; Hakonen, Anna H.; Hassinen, Antti; Luras, Sanne Iversen; Kaustio, Meri; Glumoff, Virpi; Hinrichsen, Francisca; Li, Weiwei; Sulonen, Anna-Maija; Wickman, Sanna; Almusa, Henrikki; Polso, Minttu; Palomaki, Maarit; Kivirikko, Sirpa; Avela, Kristiina; Heiskanen, Kaarina; Pietiainen, Vilja; Aittomaki, Kristiina; Saarela, Janna 分享 收藏 PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants致病性BRCA1/2变异对乳腺癌患者预后的预测效度Muranen, Taru; Morra, Anna; Khan, Sofia R.; Barnes, Daniel K.; Bolla, Manjeet; Dennis, Joe; Keeman, Renske; Leslie, Goska T.; Parsons, Michael; Wang, Qin U.; Ahearn, Thomas; Aittomaeki, Kristiina L.; Andrulis, Irene K.; Arun, Banu; Behrens, Sabine; Bialkowska, Katarzyna E.; Bojesen, Stig J.; Camp, Nicola; Chang-Claude, Jenny; Czene, Kamila; Devilee, Peter M.; Domchek, Susan M.; Dunning, Alison; Engel, Christoph; Evans, D. Gareth; Gago-Dominguez, Manuela; Garcia-Closas, Montserrat; Gerdes, Anne-Marie; Glendon, Gord; Guenel, Pascal; Hahnen, Eric; Hamann, Ute; Hanson, Helen J.; Hooning, Maartje; Hoppe, Reiner; Izatt, Louise; Jakubowska, Anna A.; James, Paul N.; Kristensen, Vessela; Lalloo, Fiona J.; Lindeman, Geoffrey; Mannermaa, Arto; Margolin, Sara L.; Neuhausen, Susan G.; Newman, William; Peterlongo, Paolo; Phillips, Kelly-Anne; Pujana, Miquel Angel; Rantala, Johanna; Ronlund, Karina; Saloustros, Emmanouil K.; Schmutzler, Rita; Schneeweiss, Andreas F.; Singer, Christian; Suvanto, Maija; Tan, Yen Yen R.; Teixeira, Manuel; Thomassen, Mads; Tischkowitz, Marc; Tripathi, Vishakha; Wappenschmidt, Barbara; Zhao, Emily F.; Easton, Douglas C.; Antoniou, Antonis; Chenevix-Trench, Georgia; Pharoah, Paul D. P. K.; Schmidt, Marjanka; Blomqvist, Carl; Nevanlinna, Heli 分享 收藏 分享 收藏 Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicineHeddar, Abdelkader; Ogur, Cagri; Da Costa, Sabrina; Braham, Ines; Billaud-Rist, Line; Findikli, Necati; Beneteau, Claire; Reynaud, Rachel; Mahmoud, Khaled; Legrand, Stephanie; Marchand, Maud; Cedrin-Durnerin, Isabelle; Cantalloube, Adele; Peigne, Maeliss; Bretault, Marion; Dagher-Hayeck, Benedicte; Perol, Sandrine; Droumaguet, Celine; Cavkaytar, Sabri; Nicolas-Bonne, Carole; Elloumi, Hanen; Khrouf, Mohamed; Rougier-LeMasle, Charlotte; Fradin, Melanie; Le Boette, Elsa; Luigi, Perrine; Guerrot, Anne-Marie; Ginglinger, Emmanuelle; Zampa, Amandine; Fauconnier, Anais; Auger, Nathalie; Paris, Francoise; Brischoux-Boucher, Elise; Cabrol, Christelle; Brun, Aurore; Guyon, Laura; Berard, Melanie; Riviere, Axelle; Gruchy, Nicolas; Odent, Sylvie; Gilbert-Dussardier, Brigitte; Isidor, Bertrand; Piard, Juliette; Lambert, Laetitia; Hamamah, Samir; Guedj, Anne Marie; de la Perriere, Aude Brac; Fernandez, Herve; Raffin-Sanson, Marie-Laure; Polak, Michel; Letur, Helene; Epelboin, Sylvie; Plu-Bureau, Genevieve; Wolczynski, Slawomir; Hieronimus, Sylvie; Aittomaki, Kristiina; Catteau-Jonard, Sophie; Misrahi, Micheline 分享 收藏 A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patientsWendt, Camilla; Muranen, Taru A.; Mielikainen, Lotta; Thutkawkorapin, Jessada; Blomqvist, Carl; Jiao, Xiang; Ehrencrona, Hans; Tham, Emma; Arver, Brita; Melin, Beatrice; Kuchinskaya, Ekaterina; Askmalm, Marie Stenmark; Paulsson-Karlsson, Ylva; Einbeigi, Zakaria; Vappling, Anna von Wachenfeldt; Kalso, Eija; Tasmuth, Tiina; Kallioniemi, Anne; Aittomaki, Kristiina; Nevanlinna, Heli; Borg, Ake; Lindblom, Annika 分享 收藏 分享 收藏 Recurrent moderate-risk mutations in Finnish breast and ovarian cancer patients芬兰乳腺癌和卵巢癌患者的复发性中危突变Nurmi, Anna; Muranen, Taru A.; Pelttari, Liisa M.; Kiiski, Johanna, I; Heikkinen, Tuomas; Lehto, Sini; Kallioniemi, Anne; Schleutker, Johanna; Butzow, Ralf; Blomqvist, Carl; Aittomaki, Kristiina; Nevanlinna, Hell 分享 收藏 Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer全基因组关联和转录组研究确定乳腺癌的靶基因和风险位点Ferreira, Manuel A.; Gamazon, Eric R.; Al-Ejeh, Fares; Aittomaki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arason, Adalgeir; Arndt, Volker; Aronson, Kristan J.; Arun, Banu K.; Asseryanis, Ella; Azzollini, Jacopo; Balmana, Judith; Barnes, Daniel R.; Barrowdale, Daniel; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bialkowska, Katarzyna; Blomqvist, Carl; Bogdanova, Natalia, V; Bojesen, Stig E.; Bolla, Manjeet K.; Borg, Ake; Brauch, Hiltrud; Brenner, Hermann; Broeks, Annegien; Burwinkel, Barbara; Caldes, Trinidad; Caligo, Maria A.; Campa, Daniele; Campbell, Ian; Canzian, Federico; Carter, Jonathan; Carter, Brian D.; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Christiansen, Hans; Chung, Wendy K.; Claes, Kathleen B. M.; Clarke, Christine L.; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Daly, Mary B.; de la Hoya, Miguel; Dennis, Joe; Devilee, Peter; Diez, Orland; Doerk, Thilo; Dunning, Alison M.; Dwek, Miriam; Eccles, Diana M.; Ejlertsen, Bent; Ellberg, Carolina; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A.; Fletcher, Olivia; Flyger, Henrik; Friedman, Eitan; Frost, Debra; Gabrielson, Marike; Gago-Dominguez, Manuela; Ganz, Patricia A.; Gapstur, Susan M.; Garber, Judy; Garcia-Closas, Montserrat; Garcia-Saenz, Jose A.; Gaudet, Mia M.; Giles, Graham G.; Glendon, Gord; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; Gonzalez-Neira, Anna; Greene, Mark H.; Gronwald, Jacek; Guenel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; He, Wei; Heyworth, Jane; Hogervorst, Frans B. L.; Hollestelle, Antoinette; Hoover, Robert N.; Hopper, John L.; Hulick, Peter J.; Humphreys, Keith; Imyanitov, Evgeny N.; Isaacs, Claudine; Jakimovska, Milena; Jakubowska, Anna; James, Paul A.; Janavicius, Ramunas; Jankowitz, Rachel C.; John, Esther M.; Johnson, Nichola; Joseph, Vijai; Karlan, Beth Y.; Khusnutdinova, Elza; Kiiski, Johanna, I; Ko, Yon-Dschun; Jones, Michael E.; Konstantopoulou, Irene; Kristensen, Vessela N.; Laitman, Yael; Lambrechts, Diether; Lazaro, Conxi; Leslie, Goska; Lester, Jenny; Lesueur, Fabienne; Lindstrom, Sara; Long, Jirong; Loud, Jennifer T.; Lubinski, Jan; Makalic, Enes; Mannermaa, Arto; Manoochehri, Mehdi; Margolin, Sara; Maurer, Tabea; Mavroudis, Dimitrios; McGuffog, Lesley; Meindl, Alfons; Menon, Usha; Michailidou, Kyriaki; Miller, Austin; Montagna, Marco; Moreno, Fernando; Moserle, Lidia; Mulligan, Anna Marie; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Nevelsteen, Ines; Nielsen, Finn C.; Nikitina-Zake, Liene; Nussbaum, Robert L.; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo, I; Olsson, Hakan; Osorio, Ana; Papp, Janos; Park-Simon, Tjoung-Won; Parsons, Michael T.; Pedersen, Inge Sokilde; Peixoto, Ana; Peterlongo, Paolo; Pharoah, Paul D. P.; Plaseska-Karanfilska, Dijana; Poppe, Bruce; Presneau, Nadege; Radice, Paolo; Rantala, Johanna; Rennert, Gad; Risch, Harvey A.; Saloustros, Emmanouil; Sanden, Kristin; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Sharma, Priyanka; Shu, Xiao-Ou; Simard, Jacques; Singer, Christian F.; Soucy, Penny; Southey, Melissa C.; Spinelli, John J.; Spurdle, Amanda B.; Stone, Jennifer; Swerdlow, Anthony J.; Tapper, William J.; Taylor, Jack A.; Teixeira, Manuel R.; Terry, Mary Beth; Teule, Alex; Thomassen, Mads; Thoene, Kathrin; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Torres, Diana; Truong, Therese; Tung, Nadine; Vachon, Celine M.; van Asperen, Christi J.; van den Ouweland, Ans M. W.; van Rensburg, Elizabeth J.; Vega, Ana; Viel, Alessandra; Wang, Qin; Wappenschmidt, Barbara; Weitzel, Jeffrey N.; Wendt, Camilla; Winqvist, Robert; Yang, Xiaohong R.; Yannoukakos, Drakoulis; Ziogas, Argyrios; Kraft, Peter; Antoniou, Antonis C.; Zheng, Wei; Easton, Douglas F.; Milne, Roger L.; Beesley, Jonathan; Chenevix-Trench, Georgia; Arnold, Norbert; Auber, Bernd; Bogdanova-Markov, Nadja; Borde, Julika; Caliebe, Almuth; Ditsch, Nina; Dworniczak, Bernd; Engert, Stefanie; Faust, Ulrike; Gehrig, Andrea; Hahnen, Eric; Hauke, Jan; Hentschel, Julia; Herold, Natalie; Honisch, Ellen; Just, Walter; Kast, Karin; Larsen, Mirjam; Lemke, Johannes; Huu Phuc Nguyen; Niederacher, Dieter; Ott, Claus-Eric; Platzer, Konrad; Pohl-Rescigno, Esther; Ramser, Juliane; Rhiem, Kerstin; Steinemann, Doris; Sutter, Christian; Varon-Mateeva, Raymonda; Wang-Gohrke, Shan; Weber, Bernhard H. F.; Prieur, Fabienne; Pujol, Pascal; Sagne, Charlotte; Sevenet, Nicolas; Sobol, Hagay; Sokolowska, Johanna; Stoppa-Lyonnet, Dominique; Venat-Bouvet, Laurence; Adlard, Julian; Ahmed, Munaza; Barwell, Julian; Brady, Angela; Brewer, Carole; Cook, Jackie; Davidson, Rosemarie; Donaldson, Alan; Eason, Jacqueline; Eeles, Ros; Evans, D. Gareth; Gregory, Helen; Hanson, Helen; Henderson, Alex; Hodgson, Shirley; Izatt, Louise; Kennedy, M. John; Lalloo, Fiona; Miller, Clare; Morrison, Patrick J.; Ong, Kai-ren; Perkins, Jo; Porteous, Mary E.; Rogers, Mark T.; Side, Lucy E.; Snape, Katie; Walker, Lisa; Harrington, Patricia A.; Heemskerk-Gerritsen, Bernadette A. M.; Rookus, Matti A.; Seynaeve, Caroline M.; van der Baan, Frederieke H.; van der Hout, Annemieke H.; van der Kolk, Lizet E.; van der Luijt, Rob B.; van Deurzen, Carolien H. M.; van Doorn, Helena C.; van Engelen, Klaartje; van Hest, Liselotte; van Os, Theo A. M.; Verhoef, Senno; Vogel, Maartje J.; Wijnen, Juul T.; Miron, Alexander; Kapuscinski, Miroslav; Bane, Anita; Ross, Eric; Buys, Saundra S.; Conner, Thomas A.; Balleine, Rosemary; Baxter, Robert; Braye, Stephen; Carpenter, Jane; Dahlstrom, Jane; Forbes, John; Lee, Soon C.; Marsh, Deborah; Morey, Adrienne; Pathmanathan, Nirmala; Simpson, Peter; Spigelman, Allan; Wilcken, Nicholas; Yip, Desmond 分享 收藏 Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans体质性TET2单倍不足对人类分子和临床表型的影响Kaasinen, Eevi; Kuismin, Outi; Rajamaki, Kristiina; Ristolainen, Heikki; Aavikko, Mervi; Kondelin, Johanna; Saarinen, Silva; Berta, Davide G.; Katainen, Riku; Hirvonen, Elina A. M.; Karhu, Auli; Taira, Aurora; Tanskanen, Tomas; Alkodsi, Amjad; Taipale, Minna; Morgunova, Ekaterina; Franssila, Kaarle; Lehtonen, Rainer; Makinen, Markus; Aittomaki, Kristiina; Palotie, Aarno; Kurki, Mitja, I; Pietilainen, Olli; Hilpert, Morgane; Saarentaus, Elmo; Niinimaki, Jaakko; Junttila, Juhani; Kaikkonen, Kari; Vahteristo, Pia; Skoda, Radek C.; Seppanen, Mikko R. J.; Eklund, Kari K.; Taipale, Jussi; Kilpivaara, Outi; Aaltonen, Lauri A. 分享 收藏 Recent developments in genetics and medically-assisted reproduction: from research to clinical applicationsHarper, J. C.; Aittomaki, K.; Borry, P.; Cornel, M. C.; de Wert, G.; Dondorp, W.; Geraedts, J.; Gianaroli, L.; Ketterson, K.; Liebaers, I; Lundin, K.; Mertes, H.; Morris, M.; Pennings, G.; Sermon, K.; Spits, C.; Soini, S.; van Montfoort, A. P. A.; Veiga, A.; Vermeesch, J. R.; Viville, S.; Macek, M., Jr. 分享 收藏 A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTRWedenoja, Satu; Khamaysi, Ahlam; Shimshilashvili, Liana; Anbtawe-Jomaa, Shireen; Elomaa, Outi; Toppari, Jorma; Hoglund, Pia; Aittomaki, Kristiina; Holmberg, Christer; Hovatta, Outi; Tapanainen, Juha S.; Ohana, Ehud; Kere, Juha 分享 收藏 分享 收藏 CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient populationHallamies, Sanna; Pelttari, Liisa M.; Poikonen-Saksela, Paula; Jekunen, Antti; Jukkola-Vuorinen, Arja; Auvinen, Paivi; Blomqvist, Carl; Aittomaki, Kristiina; Mattson, Johanna; Nevanlinna, Heli 分享 收藏 FANCM mutation c.5791C>T is a risk factor for triple-negative breast cancer in the Finnish populationFANCM突变c.5791C>T是芬兰人群中三阴性乳腺癌的危险因素Kiiski, Johanna I.; Tervasmaki, Anna; Pelttari, Liisa M.; Khan, Sofia; Mantere, Tuomo; Pylkas, Katri; Mannermaa, Arto; Tengstrom, Maria; Kvist, Anders; Borg, Ake; Kosma, Veli-Matti; Kallioniemi, Anne; Schleutker, Johanna; Butzow, Ralf; Blomqvist, Carl; Aittomaki, Kristiina; Winqvist, Robert; Nevanlinna, Heli 分享 收藏 Genetic modifiers of CHEK2*1100delC-associated breast cancer riskCHEK2 * 1100delc相关乳腺癌风险的遗传修饰因子Muranen, Taru A.; Greco, Dario; Blomqvist, Carl; Aittomaki, Kristiina; Khan, Sofia; Hogervorst, Frans; Verhoef, Senno; Pharoah, Paul D. P.; Dunning, Alison M.; Shah, Mitul; Luben, Robert; Bojesen, Stig E.; Nordestgaard, Borge G.; Schoemaker, Minouk; Swerdlow, Anthony; Garcia-Closas, Montserrat; Figueroa, Jonine; Doerk, Thilo; Bogdanova, Natalia V.; Hall, Per; Li, Jingmei; Khusnutdinova, Elza; Bermisheva, Marina; Kristensen, Vessela; Borresen-Dale, Anne-Lise; Peto, Julian; Silva, Isabel dos Santos; Couch, Fergus J.; Olson, Janet E.; Hillemans, Peter; Park-Simon, Tjoung-Won; Brauch, Hiltrud; Hamann, Ute; Burwinkel, Barbara; Marme, Frederik; Meindl, Alfons; Schmutzler, Rita K.; Cox, Angela; Cross, Simon S.; Sawyer, Elinor J.; Tomlinson, Ian; Lambrechts, Diether; Moisse, Matthieu; Lindblom, Annika; Margolin, Sara; Hollestelle, Antoinette; Martens, John W. M.; Fasching, Peter A.; Beckmann, Matthias W.; Andrulis, Irene L.; Knight, Julia A.; Anton-Culver, Hoda; Ziogas, Argyrios; Giles, Graham G.; Milne, Roger L.; Brenner, Hermann; Arndt, Volker; Mannermaa, Arto; Kosma, Veli-Matti; Chang-Claude, Jenny; Rudolph, Anja; Devilee, Peter; Seynaeve, Caroline; Hopper, John L.; Southey, Melissa C.; John, Esther M.; Whittemore, Alice S.; Bolla, Manjeet K.; Wang, Qin; Michailidou, Kyriaki; Dennis, Joe; Easton, Douglas F.; Schmidt, Marjanka K.; Nevanlinna, Heli 分享 收藏 Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibilityMantere, Tuomo; Tervasmaki, Anna; Nurmi, Anna; Rapakko, Katrin; Kauppila, Saila; Tang, Jiangbo; Schleutker, Johanna; Kallioniemi, Anne; Hartikainen, Jaana M.; Mannermaa, Arto; Nieminen, Pentti; Hanhisalo, Riitta; Lehto, Sini; Suvanto, Maija; Grip, Mervi; Jukkola-Vuorinen, Arja; Tengstrom, Maria; Auvinen, Paivi; Kvist, Anders; Borg, Ake; Blomqvist, Carl; Aittomaki, Kristiina; Greenberg, Roger A.; Winqvist, Robert; Nevanlinna, Heli; Pylkas, Katri 分享 收藏 Patient survival and tumor characteristics associated with CHEK2:p.I157T-findings from the Breast Cancer Association ConsortiumMuranen, Taru A.; Blomqvist, Carl; Doerk, Thilo; Jakubowska, Anna; Heikkila, Paivi; Fagerholm, Rainer; Greco, Dario; Aittomaki, Kristiina; Bojesen, Stig E.; Shah, Mitul; Dunning, Alison M.; Rhenius, Valerie; Hall, Per; Czene, Kamila; Brand, Judith S.; Darabi, Hatef; Chang-Claude, Jenny; Rudolph, Anja; Nordestgaard, Borge G.; Couch, Fergus J.; Hart, Steven N.; Figueroa, Jonine; Garcia-Closas, Montserrat; Fasching, Peter A.; Beckmann, Matthias W.; Li, Jingmei; Liu, Jianjun; Andrulis, Irene L.; Winqvist, Robert; Pylkas, Katri; Mannermaa, Arto; Kataja, Vesa; Lindblom, Annika; Margolin, Sara; Lubinski, Jan; Dubrowinskaja, Natalia; Bolla, Manjeet K.; Dennis, Joe; Michailidou, Kyriaki; Wang, Qin; Easton, Douglas F.; Pharoah, Paul D. P.; Schmidt, Marjanka K.; Nevanlinna, Heli 分享 收藏 FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcomeKiiski, Johanna I.; Fagerholm, Rainer; Tervasmaki, Anna; Pelttari, Liisa M.; Khan, Sofia; Jamshidi, Maral; Mantere, Tuomo; Pylkas, Katri; Bartek, Jiri; Bartkova, Jirina; Mannermaa, Arto; Tengstrom, Maria; Kosma, Veli-Matti; Winqvist, Robert; Kallioniemi, Anne; Aittomaki, Kristiina; Blomqvist, Carl; Nevanlinna, Heli 分享 收藏 Polygenic risk score is associated with increased disease risk in 52 Finnish breast cancer familiesMuranen, Taru A.; Mavaddat, Nasim; Khan, Sofia; Fagerholm, Rainer; Pelttari, Liisa; Lee, Andrew; Aittomaki, Kristiina; Blomqvist, Carl; Easton, Douglas F.; Nevanlinna, Heli 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
