
ARTO MANNERMAA
Professori
Yhteystiedot
Organisaatio
Lääketieteen laitos, Kliinisen lääketieteen yksikkö
Sähköposti
arto.mannermaa@uef.fi
Puhelin
040 355 2752
Tutkimusryhmät - UEF
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Itä-Suomen Genomikeskus
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Molecular Pathology and Genetics of Cancer
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Pohjois-Savon ihosyöpäohjelma (PoSiho)
PROJEKTIT - UEF
Julkaisut
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Baxter, Joseph S.; Johnson, Nichola; Tomczyk, Katarzyna; Gillespie, Andrea; Maguire, Sarah; Brough, Rachel; Fachal, Laura; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Ahearn, Thomas U.; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Aronson, Kristan J.; Augustinsson, Annelie; Becher, Heiko; Beckmann, Matthias W. [incl. Kosma, Veli-Matti, Manner. 2021. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element American journal of human genetics 108 7: 1190-1203. 2021
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Natarajan, Pradeep; Pampana, Akhil; Graham, Sarah E; Ruotsalainen, Sanni E; Perry, James A; de Vries, Paul S;. Broome, Jai G; Pirruccello, James P; Honigberg, Michael C; Aragam, Krishna; Wolford, Brooke; Brody, Jennifer A; Antonacci-Fulton, Lucinda; Arden, Moscati; Aslibekyan, Stella; Assimes, Themistocles L; Ballantyne, Christie M; Bielak, Lawrence F; Bis, Joshua C.; Cade, Brian E; et al. [incl. . 2021. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices Nature communications 12 1: 2182. 2021
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Coignard, Juliette; Lush, Michael; Beesley, Jonathan; O'Mara, Tracy A; Dennis, Joe; Tyrer, Jonathan P; Barnes, Daniel R; McGuffog, Lesley; Leslie, Goska; Bolla, Manjeet K; Adank, Muriel A; Agata, Simona; Ahearn, Thomas; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Arun, Banu K. et al [Incl. Kosma, Veli-Matti; Mannermaa, Arto]. 2021. A case-only study to identify genetic modifiers ofbreast cancer risk for BRCA1/BRCA2mutationcarriers Nature communications 12 1: 1078. 2021
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Zekavat, Seyedeh M.; Lin, Shu-Hong; Bick, Alexander G.; Liu, Aoxing; Paruchuri, Kaavya; Wang, Chen; Uddin, Md Mesbah; Ye, Yixuan; Yu, Zhaolong; Liu, Xiaoxi; Kamatani, Yoichiro; Bhattacharya, Romit; Pirruccello, James P.; Pampana, Akhil; Loh, Po-Ru; Kohli, Puja; McCarroll, Steven A.; Kiryluk, Krzysztof; Neale, Benjamin; Ionita-Laza, Iuliana et al. [incl. Mannermaa, Arto; Heikkinen, Sami; Kosma, Vel. 2021. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection Nature medicine 27 6: 1012-1024. 2021
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Suhonen, Ville; Rummukainen, Jaana; Siiskonen, Hanna; Mannermaa, Arto; Harvima, Ilkka T. 2021. High regional mortality due to malignant melanoma in Eastern Finland may be explained by the increase in aggressive melanoma types Bmc cancer 21: 1155. 2021
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Ruth, Katherine S.; Day, Felix R.; Hussain, Jazib; Martínez-Marchal, Ana; Aiken, Catherine E.; Azad, Ajuna; Thompson, Deborah J.; Knoblochova, Lucie; Abe, Hironori; Tarry-Adkins, Jane L.; Gonzalez, Javier Martin; Fontanillas, Pierre; Claringbould, Annique; Bakker, Olivier B.; Sulem, Patrick; Walters, Robin G.; Terao, Chikashi; Turon, Sandra; Horikoshi, Momoko; Lin, Kuang [incl. Mannermaa, Arto]. 2021. Genetic insights into biological mechanisms governing human ovarian ageing Nature 596 7872: 393-397. 2021
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Park, JooYong; Choi, Ji-Yeob; Choi, Jaesung; Chung, Seokang; Song, Nan; Park, Sue K; Han, Wonshik; Noh, Dong-Young; Ahn, Sei-Hyun; Lee, Jong Won; Kim, Mi Kyung; Jee, Sun Ha; Wen, Wanqing; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Michailidou, Kyriaki; Shah, Mitul; Conroy, Don M; Harrington, Patricia A; et al; [incl. Mannermaa, Arto; Hartikainen, Jaana]. 2021. Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies? Cancer 13 10: 2370. 2021
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Park, HA; Neumeyer, S; Michailidou, K; Bolla, MK; Wang, Q; Dennis, J; Ahearn, TU; Andrulis, IL; Anton-Culver, H; Antonenkova, NN; Arndt, V; Aronson, KJ; Augustinsson, A; Baten, A; Beane Freeman, LE; Becher, H; Beckmann, MW; Behrens, S; Benitez, J; Bermisheva, M; et al; [incl. Mannermaa, A]. 2021. Mendelian randomisation study of smoking exposure in relation to breast cancer risk British journal of cancer 125 8: 1135-1145. 2021
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Palomäki, Antti; FinnGen Rheumatology Clinical Expert Group; Palotie, Aarno; Koskela, Jukka; Eklund, Kari K; Pirinen, Matti; FinnGen; Ripatti, Samuli; Laitinen, Tarja; Mars, Nina; [incl. collaborators Kosma, Veli-Matti; Mannermaa, Arto; Heikkinen, Sami]. 2021. Lifetime risk of rheumatoid arthritis-associated interstitial lung disease in MUC5B mutation carriers Annals of the rheumatic diseases 80 12: 1530-1536. 2021
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Niukkanen, A; Okuma, H; Sudah, M; Auvinen, P; Mannermaa, A; Liimatainen, T; Vanninen, R. 2021. Quantitative Three-Dimensional Assessment of the Pharmacokinetic Parameters of Intra- and Peri-tumoural Tissues on Breast Dynamic Contrast-Enhanced Magnetic Resonance Imaging Journal of digital imaging 34 5: 1110-1119. 2021
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Morra, Anna; Jung, Audrey Y; Behrens, Sabine; Keeman, Renske; Ahearn, Thomas U; Anton-Culver, Hoda; Arndt, Volker; Augustinsson, Annelie; Auvinen, Päivi K; Freeman, Laura E Beane; Becher, Heiko; Beckmann, Matthias W; Blomqvist, Carl; Bojesen, Stig E; Bolla, Manjeet K; Brenner, Hermann; Briceno, Ignacio; Brucker, Sara Y; Camp, Nicola J; Campa, Daniele et al. [incl. Mannermaa, Arto]. 2021. Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium Cancer epidemiology biomarkers and prevention 30 4: 623-642. 2021
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Morra, Anna; Escala-Garcia, Maria; Beesley, Jonathan; Keeman, Renske; Canisius, Sander; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Auer, Paul L; Augustinsson, Annelie; Beane Freeman, Laura E; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bojesen, Stig E; Bolla, Manjeet K; Brenner, Hermann; Brüning, Thomas; Buys, Saundra S; et al; [incl. Hartikainen, Jaana; Mann. 2021. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment Breast cancer research 23 1: 86. 2021
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Lamminaho, Maria; Kujala, Jouni; Peltonen, Hanna; Tengström, Maria; Kosma, Veli-Matti; Mannermaa, Arto. 2021. High Cell-Free DNA Integrity Is Associated with Poor Breast Cancer Survival Cancers 13 18: 4679. 2021
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Kärkkäinen, Emmi; Heikkinen, Sami; Tengström, Maria; Kosma, Veli-Matti; Mannermaa, Arto; Hartikainen, Jaana M. 2021. The debatable presence of PIWI-interacting RNAs in invasive breast cancer Cancer medicine 10 11: 3593 - 3603. 2021
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Johnson, Nichola; Maguire, Sarah; Morra, Anna; Kapoor, Pooja Middha; Tomczyk, Katarzyna; Jones, Michael E; Schoemaker, Minouk J; Gilham, Clare; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Baynes, Caroline; Freeman, Laura E et al. [Incl. Kosma, Veli-Matti; Mannerm. 2021. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers British journal of cancer 124 4: 842-854. 2021
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Gudhe, Naga Raju; Behravan, Hamid; Sudah, Mazen; Okuma, Hidemi; Vanninen, Ritva; Kosma, Veli-Matti; Mannermaa, Arto. 2021. Multi-level dilated residual network for biomedical image segmentation Scientific reports 11 1: 14105. 2021
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Gharahkhani, Puya; Jorgenson, Eric; Hysi, Pirro; Khawaja, Anthony P; Pendergrass, Sarah; Han, Xikun; Ong, Jue Sheng; Hewitt, Alex W; Segrè, Ayellet V; Rouhana, John M; Hamel, Andrew R; Igo, Robert P; Choquet, Helene; Qassim, Ayub; Josyula, Navya S; Cooke Bailey, Jessica N; Bonnemaijer, Pieter W M; Iglesias, Adriana; Siggs, Owen M; Young, Terri L et al. [incl FinGen; Mannermaa, Arto; Heikkinen, Sam. 2021. Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries Nature communications 12 1: 1258. 2021
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Escala-Garcia, Maria; Canisius, Sander; Keeman, Renske; Beesley, Jonathan; Anton-Culver, Hoda; Arndt, Volker; Augustinsson, Annelie; Becher, Heiko; Beckmann, Matthias W.; Behrens, Sabine; Bermisheva, Marina; Bojesen, Stig E.; Bolla, Manjeet K.; Brenner, Hermann; Canzian, Federico; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Couch, Fergus J.; Czene, Kamila et al. [incl. Hartikainen. 2021. Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis Scientific reports 11: 19787. 2021
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Dorling, Leila; Carvalho, Sara; Allen, Jamie; González-Neira, Anna; Luccarini, Craig; Wahlström, Cecilia; Pooley, Karen A.; Parsons, Michael T.; Fortuno, Cristina; Wang, Qin; Bolla, Manjeet K.; Dennis, Joe; Keeman, Renske M.; Alonso, Rosario; Álvarez, Nuria; Herraez, Belen; Fernandez, Victoria; Núñez-Torres, Rocio; Osorio, Ana; Valcich, Jeanette et al. [incl. Hartikainen, Jaana; Kosma, Veli-Matti;. 2021. Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women The new england journal of medicine 384 5: 428-439. 2021
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Kujala, J; Hartikainen, JM; Tengström, M; Sironen, R; Kosma, VM; Mannermaa, A. 2020. High Mutation Burden of Circulating Cell-Free DNA in Early-Stage Breast Cancer Patients Is Associated With a Poor Relapse-Free Survival Cancer medicine 9 16: 5922-5931. 2020
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Zhang, Haoyu; Ahearn, Thomas U; Lecarpentier, Julie; Barnes, Daniel; Beesley, Jonathan; Qi, Guanghao; Jiang, Xia; O'Mara, Tracy A; Zhao, Ni; Bolla, Manjeet K; Dunning, Alison M; Dennis, Joe; Wang, Qin; Ful, Zumuruda Abu; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Aronson, Kristan J; Arun, Banu K et al [incl Mannermaa, Arto]. 2020. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses Nature genetics 52: 572-581. 2020
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Okuma, H; Sudah, M; Kettunen, T; Niukkanen, A; Sutela, A; Masarwah, A; Kosma, VM; Auvinen, P; Mannermaa, A; Vanninen, R. 2020. Peritumor to Tumor Apparent Diffusion Coefficient Ratio Is Associated With Biologically More Aggressive Breast Cancer Features and Correlates With the Prognostication Tools PLoS ONE 15 6: e0235278. 2020
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Mars, Nina; Widén, Elisabeth; Kerminen, Sini; Meretoja, Tuomo; Pirinen, Matti; Parolo, Pietro della Briotta; Palta, Priit; FinnGen, Palotie, Aarno; Kaprio, Jaakko; Joensuu, Heikki; Daly, Mark; Ripatti, Samuli [incl. Hiltunen, Mikko; Heikkinen, Sami; Julkunen, Valtteri; Kosma, Veli-Matti; Mannermaa, Arto; Kälviäinen, Reetta]. 2020. The role of polygenic risk and susceptibility genes in breast cancer over the course of life Nature communications 11 1: 6383. 2020
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Liu, Jingjing; Prager-van der Smissen, Wendy J C; Collée, J Margriet; Bolla, Manjeet K; Wang, Qin; Michailidou, Kyriaki; Dennis, Joe; Ahearn, Thomas U; Aittomäki, Kristiina; Ambrosone, Christine B; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J; Augustinsson, Annelie; Auvinen, Päivi; Becher, Heiko; Beckmann, Matthias W et al. [Incl. 2020. Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk Scientific reports 10 1: 9688. 2020
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Kramer, Iris; Hooning, Maartje J; Mavaddat, Nasim; Hauptmann, Michael; Keeman, Renske; Steyerberg, Ewout W; Giardiello, Daniele; Antoniou, Antonis C; Pharoah, Paul D P; Canisius, Sander; Abu-Ful, Zumuruda; Andrulis, Irene L; Anton-Culver, Hoda; Aronson, Kristan J; Augustinsson, Annelie; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; et al. (incl. Mannerm. 2020. Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk American journal of human genetics 107 5: 837-848. 2020
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Jokelainen, Otto; Pasonen-Seppänen, Sanna; Tammi, Markku; Mannermaa, Arto; Aaltomaa, Sirpa; Sironen, Reijo; Nykopp, Timo K. 2020. Cellular hyaluronan is associated with a poor prognosis in renal cell carcinoma Urologic oncology: seminars and original investigations 38 8: 686.e11-686.e22. 2020
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Feng, Helian; Gusev, Alexander; Pasaniuc, Bogdan; Wu, Lang; Long, Jirong; Abu-Full, Zomoroda; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Arason, Adalgeir; Arndt, Volker; Aronson, Kristan J; Arun, Banu K; Asseryanis, Ella; Auer, Paul L; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barnes, Daniel R et al [incl Mannermaa, Arto]. 2020. Transcriptome-wide Association Study of Breast Cancer Risk by Estrogen-Receptor Status Genetic epidemiology 44 5: 442-468. 2020
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Fachal, L; Aschard, H; Beesley, J; Barnes, DR; Allen, J; Kar, S; Pooley, KA; Dennis, J; Michailidou, K; Turman, C; Soucy, P; Lemaçon, A; Lush, M; Tyrer, JP; Ghoussaini, M; Marjaneh, MM; Jiang, X; Agata, S; Aittomäki, K; Alonso, MR; et al. [incl. Hartikainen, J; Kosma, VM; Mannermaa, A; Tengström, M]. 2020. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes Nature genetics 52: 56-73. 2020
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Escala-Garcia, M; Abraham, J; Andrulis, IL; Anton-Culver, H; Arndt, V; Ashworth, A; Auer, PL; Auvinen, P; Beckmann, MW; Beesley, J; Behrens, S; Benitez, J; Bermisheva, M; Blomqvist, C; Blot, W; Bogdanova, NV; Bojesen, SE; Bolla, MK; Børresen-Dale, AL; Brauch, H; et al. (incl. Mannermaa, A; Auvinen, P). 2020. A network analysis to identify mediators of germline-driven differences in breast cancer prognosis Nature communications 11 1: 312. 2020
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Eneh, Stralina; Heikkinen, Sami; Hartikainen, Jaana M; Kuopio, Teijo; Mecklin, Jukka-Pekka; Kosma, Veli-Matti; Mannermaa, Arto. 2020. MicroRNAs Associated With Biological Pathways of Left- And Right-sided Colorectal Cancer Anticancer research 40 7: 3713-3722. 2020
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Behravan, Hamid; Hartikainen, Jaana M; Tengström, Maria; Kosma, Veli-Matti; Mannermaa, Arto. 2020. Predicting Breast Cancer Risk Using Interacting Genetic and Demographic Factors and Machine Learning Scientific reports 10 1: 11044. 2020
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Bao, Erik L; Nandakumar, Satish K; Liao, Xiaotian; Bick, Alexander G; Karjalainen, J; Tabaka, Marcin; Gan, Olga I; Havulinna, Aki S; Kiiskinen, Tuomo TJ; Lareau, Caleb A; de Lapuente Portilla, Aitzkoa L; Li, Bo; Emdin, Connor; Codd, Veryan; Nelson, Christopher P; Walker, Christopher J; Churchhouse, Claire; de la Chapelle, Albert; Klein, Daryl E; et al. (incl. Kosma, V-M; Heikkinen, S; Mannermaa, A. 2020. Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells Nature 586 7831: 769-775. 2020
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Li, A; Geyer, FC; Blecua, P; Lee, JY; Selenica, P; Brown, DN; Pareja, F; Lee, SSK; Kumar, R; Rivera, B; Bi, R; Piscuoglio, S; Wen, HY; Lozada, JR; Gularte-Mérida, R; Cavallone, L; Rezoug, Z; Nguyen-Dumont, T; Peterlongo, P; Tondini, C; Terkelsen, T: et al. (incl. Mannermaa, A). 2019. Homologous recombination DNA repair defects in PALB2-associated breast cancers npj breast cancer 5: 23. 2019
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Yang, X; Leslie, G; Doroszuk, A; Schneider, S; Allen, J; Decker, B; Dunning, AM; Redman, J; Scarth, J; Plaskocinska, I; Luccarini, C; Shah, M; Pooley, K; Dorling, L; Lee, A; Adank, MA; Adlard, J; Aittomäki, K; Andrulis, IL; Ang, P; et al. [incl. Mannermaa, A]. 2019. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families Journal of clinical oncology 2020; 38 7: 674-685. 2019
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Pölönen, P; Jawahar Deen, A; Leinonen, HM; Jyrkkänen, HK; Kuosmanen, S; Mononen, M; Jain, A; Tuomainen, T; Pasonen-Seppänen, S; Hartikainen, JM; Mannermaa, A; Nykter, M; Tavi, P; Johansen, T; Heinäniemi, M; Levonen, AL. 2019. Nrf2 and SQSTM1/p62 jointly contribute to mesenchymal transition and invasion in glioblastoma Oncogene 38: 7473-7490. 2019
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Tabassum, Rubina; Ramo, Joel T; Ripatti, Pietari; Koskela, Jukka T; Kurki, Mitja; Karjalainen, Juha; Palta, Priit; Hassan, Shabbeer; Nunez-Fontarnau, Javier; Kiiskinen, Tuomo T J; Söderlund, Sanni; Matikainen, Niina; Gerl, Mathias J; Surma, Michal A; Klose, Christian; Stitziel, Nathan O; Laivuori, Hannele; Havulinna, Aki S; Service, Susan K; Salomaa, Veikko et al. (Incl Mannermaa, Arto; Heikkinen,. 2019. Genetic architecture of human plasma lipidome and its link to cardiovascular disease Nature communications 10: 4329. 2019
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Jiang, X; Finucane, HK; Schumacher, FR; Schmit, SL; Tyrer, JP; Han, Y; Michailidou, K; Lesseur, C; Kuchenbaecker, KB; Dennis, J; Conti, DV; Casey, G; Gaudet, MM; Huyghe, JR; Albanes, D; Aldrich, MC; Andrew, AS; Andrulis, IL; Anton-Culver, H; Antoniou, AC; et al. (Incl. Mannermaa, Arto). 2019. Shared heritability and functional enrichment across six solid cancers Nature communications 10 1: 431. 2019
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Figlioli, Gisella; Bogliolo, Massimo; Catucci, Irene; Caleca, Laura; Viz Lasheras, Sandra; Pujol, Roser; Kiiski, Johanna, I; Muranen, Taru A; Barnes, Daniel R; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet K; Leslie, Gaska; Aalfs, Cora M; Adank, Muriel A; Adlard, Julian; Agata, Simona; Cadoo, Karen; Agnarsson, Bjarni A; Ahearn, Thomas et al. (Incl Auvinen, Päivi; Mannermaa, Arto). 2019. The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer npj breast cancer 5: 38. 2019
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Ferreira, MA; Gamazon, ER; Al-Ejeh, F; Aittomäki, K; Andrulis, IL; Anton-Culver, H; Arason, A; Arndt, V; Aronson, KJ; Arun, BK; Asseryanis, E; Azzollini, J; Balmaña, J; Barnes, DR; Barrowdale, D; Beckmann, MW; Behrens, S; Benitez, J; Bermisheva, M; et al. (incl. Mannermaa, A). 2019. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer Nature communications 10 1: 1741. 2019
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Dörk, T; Peterlongo, P; Mannermaa, A; Bolla, MK; Wang, Q; Dennis, J; Ahearn, T; Andrulis, IL; Anton-Culver, H; Arndt, V; Aronson, KJ; Augustinsson, A; Freeman, LEB; Beckmann, MW; Beeghly-Fadiel, A; Behrens, S; Bermisheva, M; Blomqvist, C; Bogdanova, NV; Bojesen, SE; et al.. 2019. Two truncating variants in FANCC and breast cancer risk Scientific reports 9 1: 12524. 2019
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Escala-Garcia, M; Guo, Q; Dörk, T; Canisius, S; Keeman, R; Dennis, J; Beesley, J; Lecarpentier, J; Bolla, MK; Wang, Q; Abraham, J; Andrulis, IL; Anton-Culver, H; Arndt, V; Auer, PL; Beckmann, MW; Behrens, S; Benitez, J; Bermisheva, M; Bernstein, L; et al. (Incl. Hartikainen, Jaana; Kosma, Veli-Matti; Mannermaa, Arto; Tengström, Maria). 2019. Genome-wide association study of germline variants and breast cancer-specific mortality British journal of cancer 120: 647-657. 2019
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Wu, L; Shi, W; Long, J; Guo, X; Michailidou, K; Beesley, J; Bolla, MK; Shu, X-O; Lu, Y; Cai, Q; Al-Ejeh, F; Rozali, E; Wang, Q; Dennis, J; Li, B; Zeng, C; Feng, H; Gusev, A; Barfield, RT; Andrulis, IL; et al. [Incl Kosma, Veli-Matti; Mannermaa, Arto]. 2018. A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer Nature genetics 50: 968-978. 2018
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Tervasmäki, Anna; Mantere, Tuomo; Hartikainen, Jaana M; Kauppila, Salla; Lee, Hang-Mao; Koivuluoma, Susanna; Grip, Mervi; Karihtala, Peeter; Jukkola-Vuorinen, Arja; Mannermaa, Arto; Winqvist, Robert; Pylkäs, Katri. 2018. Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer International journal of cancer 142 11: 2286-2292. 2018
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Rudolph, A; Song, M; Brook, MN; Milne, RL; Mavaddat, N; Michailidou, K; Bolla, MK; Wang, Q; Dennis, J; Wilcox, AN; Hopper, JL; Southey, MC; Keeman, R; Fasching, PA; Beckmann, MW; Gago-Dominguez, M; Castelao, JE; Guénel, P; Truong, T; Bojesen, SE; et al. [Incl. Kosma, V-M]. 2018. Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium International journal of epidemiology 47 2: 526-536. 2018
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Horne, HN; Oh, H; Sherman, ME; Palakal, M; Hewitt, SM; Schmidt, MK; Milne, RL; Hardisson, D; Benitez, J; Blomqvist, C; Bolla, MK; Brenner, H; Chang-Claude, J; Cora, R; Couch, FJ; Cuk, K; Devilee, P; Easton, DF; Eccles, DM; Eilber, U; et al [Incl Mannermaa, A; Tengström, M]. 2018. E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium Scientific reports 8 1: 6574. 2018
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Mavaddat, N; Michailidou, K; Dennis, J; Lush, M; Fachal, L; Lee, A; Tyrer, JP; Chen, TH; Wang, Q; Bolla, MK; Yang, X; Adank, MA; Ahearn, T; Aittomäki, K; Allen, J; Andrulis, IL; Anton-Culver, H; Antonenkova, NN; Arndt, V; Aronson KJ; et al [Incl Auvinen, Päivi; Kataja, Vesa; Kosma, Veli-Matti; Mannermaa, Arto]. 2018. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes American journal of human genetics 2019; 104 1: 21-34. 2018
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Colombo, M; Lòpez-Perolio, I; Meeks, HD; Caleca, L; Parsons, M; Li, H;, De Vecchi, G; Tudini, E; Foglia, C; Mondini, P; Manoukian, S; Behar, R; Garcia, EBG; Meindl, A; Montagna, M; Niederacher, D; Schmidt, AY; Varesco, L; Wappenschmidt, B; Bolla, M; et al. [Incl Mannermaa, Arto; Kosma, Veli-Matti]. 2018. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity Human mutation 39 5: 729-741. 2018
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Behravan, Hamid; Hartikainen, Jaana M; Tengström, Maria; Pylkäs, Katri; Winqvist, Robert; Kosma, Veli-Matti; Mannermaa, Arto. 2018. Machine learning identifies interacting genetic variants contributing to breast cancer risk: a case study in Finnish cases and controls Scientific Reports 8: 13149. 2018
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Abubakar, M; Chang-Claude, J; Ali, HR; Chatterjee, N; Coulson, P; Daley, F; Blows, F; Benitez, J; Milne, RL; Brenner, H; Stegmaier, C; Mannermaa, A; Rudolph, A; Sinn, P; Couch, FJ; Devilee, P; Tollenaar, RA; Seynaeve, C; Figueroa, J; Lissowska, J; et al.. 2018. Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation International journal of cancer 143 4: 746-757. 2018
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Mantere T, Tervasmäki A, Nurmi A, Rapakko K, Kauppila S, Tang J, Schleutker J, Kallioniemi A, Hartikainen JM, Mannermaa A, Nieminen P, Hanhisalo R, Lehto S, Suvanto M, Grip M, Jukkola-Vuorinen A, Tengström M, Auvinen P, Kvist A, Borg Å et al. 2017. Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility. Scientific Reports 7 1: 681. 2017
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Muranen TA, Greco D, Blomqvist C, Aittomaki K, Khan S, Hogervorst F, Verhoef S, Pharoah PDP, Dunning AM, Shah M, Luben R, Bojesen SE, Nordestgaard BG, Schoemaker M, Swerdlow A, Garcia-Closas M, Figueroa J, Dork T, Bogdanova NV, Hall P et al., NBCS Investigators, KConFab AOCS Investigators, Breast Canc Assoc Consortium. 2017. Genetic modifiers of CHEK2*1100delC-associated breast cancer risk. GENETICS IN MEDICINE 19 5: 599-603. 2017
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Glubb Dylan M, Maranian Mel J, Michailidou Kyriaki, Pooley Karen A, Meyer Kerstin B, Kar Siddhartha, Carlebur Saskia, O'Reilly Martin, Betts Joshua A, Hillman Kristine M, Kaufmann Susanne, Beesley Jonathan, Canisius Sander, Hopper John L, Southey Melissa C, Tsimiklis Helen, Apicella Carmel, Schmidt Marjanka K, Broeks Annegien, Hogervorst Frans B et al (incl. Arto Mannermaa, Jaana Hartikainen, Vesa. 2015. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. AMERICAN JOURNAL OF HUMAN GENETICS 96 1: 5-20. 2015
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Candido Dos Reis FJ, Lynn S, Ali HR, Eccles D, Hanby A, Provenzano E, Caldas C, Howat WJ, McDuffus LA, Liu B, Daley F, Coulson P, Vyas RJ, Harris LM, Owens JM, Carton AF, McQuillan JP, Paterson AM, Hirji Z, Christie SK et al.. 2015. Crowdsourcing the General Public for Large Scale Molecular Pathology Studies in Cancer. EBioMedicine 2 7: 681-9. 2015
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Guo X, Long J, Zeng C, Michailidou K, Ghoussaini M, Bolla MK, Wang Q, Milne RL, Shu XO, Cai Q, Beesley J, Kar SP, Andrulis IL, Anton-Culver H, Arndt V, Beckmann MW, Beeghly-Fadiel A, Benitez J, Blot W, Bogdanova N et al.. 2015. Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk. CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 24 1680: -. 2015
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Hartikainen Jaana M, Tengström Maria, Winqvist Robert, Jukkola-Vuorinen Arja, Pylkäs Katri, Kosma Veli-Matti, Soini Ylermi, Mannermaa Arto. 2015. KEAP1 Genetic Polymorphisms Associate with Breast Cancer Risk and Survival Outcomes. CLINICAL CANCER RESEARCH 21 onlinefirst January 14, 2015: -. 2015
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Hatef Darabi, Karen McCue, Jonathan Beesley, Kyriaki Michailidou, Silje Nord,Siddhartha Kar, Keith Humphreys, Deborah Thompson, Maya Ghoussaini, Manjeet K. Bolla, Joe Dennis, Qin Wang, Sander Canisius, Christopher G. Scott, Carmel Apicella, John L. Hopper, Melissa C. Southey, Jennifer Stone, Annegien Broeks, Marjanka K. Schmidt et al (incl. Veli-Matti Kosma, Arto Mannermaa). 2015. Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression. AMERICAN JOURNAL OF HUMAN GENETICS 97 1: 22-34. 2015
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Jamshidi Maral, Fagerholm Rainer, Khan Sofia, Aittomäki Kristiina, Czene Kamila, Darabi Hatef, Li Jingmei, Andrulis Irene L, Chang-Claude Jenny, Devilee Peter, Fasching Peter A, Michailidou Kyriaki, Bolla Manjeet K, Dennis Joe, Wang Qin, Guo Qi, Rhenius Valerie, Cornelissen Sten, Rudolph Anja, Knight Julia A et al. 2015. SNP-SNP interaction analysis of NF-kappaB signaling pathway on breast cancer survival. Oncotarget 6 35: 37979-37994. 2015
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Jouppila-Mättö Anna, Mannermaa Arto, Sironen Reijo, Kosma Veli-Matti, Soini Ylermi, Pukkila Matti. 2015. SIP1 predicts progression and poor prognosis in pharyngeal squamous cell carcinoma. HISTOLOGY AND HISTOPATHOLOGY 30: 569-579. 2015
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Tuomarila M, Luostari K, Soini Y, Kataja V, Kosma VM, Mannermaa A. 2014. Overexpression of MicroRNA-200c Predicts Poor Outcome in Patients with PR-Negative Breast Cancer. PLOS ONE [ONLINE] 9 10: e109508: 1-8. 2014
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Tengström Maria, Mannermaa Arto, Kosma Veli-Matti, Soini Ylermi, Hirvonen Ari, Kataja Vesa. 2014. MnSOD rs4880 and XPD rs13181 polymorphisms predict the survival of breast cancer patients treated with adjuvant tamoxifen. ACTA ONCOLOGICA 53 6: 769-775. 2014
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Tengström Maria, Mannermaa Arto, Kosma Veli-Matti, Hirvonen Ari, Kataja Vesa. 2014. XRCC1 rs25487 polymorphism predicts the survival of patients after postoperative radiotherapy and adjuvant chemotherapy for breast cancer. ANTICANCER RESEARCH 34 6: 3031-3037. 2014
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Spurdle Amanda B, Couch Fergus J, Parsons Michael T, McGuffog Lesley, Barrowdale Daniel, Bolla Manjeet K, Wang Qin, Healey Sue, Schmutzler Rita Katharina, Wappenschmidt Barbara, Rhiem Kerstin, Hahnen Eric, Engel Christoph, Meindl Alfons, Ditsch Nina, Norbert Arnold, Plendl Hansjoerg, Niede et al. (incl. Hartikainen Jaana)racher Dieter, Sutter Christian, Wang-Gohrke Shan,. 2014. Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. BREAST CANCER RESEARCH [ONLINE: HTTP://BREAST-CANCER-RESEARCH.COM/] 16: 3419. 2014
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Milne RL, Herranz J, Michailidou K, Dennis J, Tyrer JP, Zamora MP, Arias-Perez JI, González-Neira A, Pita G, Alonso MR, Wang Q, Bolla MK, Czene K, Eriksson M, Humphreys K, Darabi H,..., Mannermaa A, Kataja V, Kosma VM, Hartikainen J, et al.. 2014. A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium. HUMAN MOLECULAR GENETICS 23 7: 1934-1946. 2014
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Sawyer Elinor, Roylance Rebecca, Petridis Christos, Brook Mark N, Nowinski Salpie, Papouli Efterpi, Fletcher Olivia, Pinder Sarah, Hanby Andrew, Kohut Kelly, Gorman Patricia, Caneppele Michele, Peto Julian, dos Santos Silva Isabel, Johnson Nichola, Swann Ruth, Dwek Miriam, Perkins Katherine-Anne, Gillett Cheryl, Houlston Richard et al (incl. Mannermaa Arto, Kataja Vesa, Kosma Veli-Matti, Hartikain. 2014. Genetic predisposition to in situ and invasive lobular carcinoma of the breast. PLOS GENETICS [ONLINE) 10 4: e1004285. 2014
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Rudolph A, Milne RL, Truong T, Knight JA, Seibold P, Flesch-Janys D, Behrens S, Eilber U, Bolla MK, Wang Q, Dennis J, Dunning AM, Shah M, ..., Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, et al.. 2014. Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors. INTERNATIONAL JOURNAL OF CANCER 136 6: E685-E696. 2014
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Purrington KS, Slettedahl S, Bolla MK, Michailidou K, Czene K, Nevanlinna H, Bojesen SE, Andrulis IL, Cox A, Hall P, Carpenter J, Yannoukakos D, Haiman CA, Fasching PA, Mannermaa A, ...,Hartikainen JM, Kosma VM, Kataja V, et al.. 2014. Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade. HUMAN MOLECULAR GENETICS 23 22: 6034-6046. 2014
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Purrington Kristen S, Slager Susan, Eccles Diana, Yannoukakos Drakoulis, Fasching Peter A, Miron Penelope, Carpenter Jane, Chang-Claude Jenny, Martin Nicholas G, Montgomery Grant W, Kristensen Vessela, Anton-Culver Hoda, Goodfellow Paul, Tapper William J, Rafiq Sajjad, Gerty Susan M, Durcan Lorraine, Konstantopoulou Irene, Fostira Florentia, Vratimos Athanassios et.al. (including Kosma Veli-Matti,. 2014. Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple negative breast cancer. CARCINOGENESIS 35 5: 1012-1019. 2014
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Perry John RB, Day Felix, Elks Cathy E, Sulem Patrick, Thompson Deborah J, Ferreira Teresa, He Chunyan, Chasman Daniel I, Esko Tõnu, Thorleifsson Gudmar, Albrecht Eva, Ang Wei Q, Corre Tanguy, Cousminer Diana L, Feenstra Bjarke, Franceschini Nora, Ganna Andrea, Johnson Andrew D, Kjellqvist Sanela, Lunetta Kathryn L et al. 2014. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. NATURE (LONDON) 514 7520: 92-97. 2014
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Schoeps Anja, Rudolph Anja, Seibold Petra, Dunning Alison M, Milne Roger L, Bojesen Stig E, Swerdlow Anthony, Andrulis Irene, Brenner Hermann, Behrens Sabine, Orr Nicholas, Jones Michael, Ashworth Alan, Li Jingmei, Cramp Helen, Connley Dan, Czene Kamila, Darabi Hatef, Chanock Stephen J, Lissowska Jolanta et al (incl Kosma Veli-Matti, Kataja Vesa, Hartikainen Jaana M, Mannermaa Arto). 2014. Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions. GENETIC EPIDEMIOLOGY 38 1: 84-93. 2014
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Milne RL, Burwinkel B, Michailidou K, Arias-Perez JI, Zamora MP, Menéndez-Rodríguez P, Hardisson D, Mendiola M, González-Neira A, Pita G, Alonso MR, Dennis J, Wang Q, Bolla MK, Swerdlow A, ..., Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, et al.. 2014. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium. HUMAN MOLECULAR GENETICS 23 22: 6096-6111. 2014
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Luostari Kaisa, Hartikainen Jaana M, Tengström Maria, Palvimo Jorma J, Kataja Vesa, Mannermaa Arto, Kosma Veli-Matti. 2014. Type II Transmembrane Serine Protease Gene Variants Associate with Breast Cancer. PLOS ONE [ONLINE] 9 7: e102519. 2014
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Lin WY, Camp NJ, Ghoussaini M, Beesley J, Michailidou K, Hopper JL, Apicella C, Southey MC, Stone J, Schmidt MK, Broeks A, Van't Veer LJ, Th Rutgers EJ, Muir K, Lophatananon A, Stewart-Brown S, ..., Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, kConFab Investigators; Australian Ovarian Cancer Study Group, et al.. 2014. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. HUMAN MOLECULAR GENETICS 2014: 1-14. 2014
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Li Jingmei, Lindström Linda S, Foo Jia N, Rafiq Sajjad, Schmidt Marjanka K, Pharoah Paul DP, Michailidou Kyriaki, Dennis Joe, Bolla Manjeet K, Wang Qin, Van 't Veer Laura J, Cornelissen Sten, Rutgers Emiel, Southey Melissa C, Apicella Carmen, Dite Gillian S, Hopper John S, Fasching Peter A, Haeberle Lothar, Ekici Arif B et al. 2014. 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy. Nature Communications 5: 4051. 2014
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Khan Sofia, Greco Dari, Michailidou Kyriaki, Milne Roger L, Muranen Taru A, Heikkinen Tuomas, Aaltonen Kirsimari, Dennis Joe, Bolla Manjeet K, Liu Jianjun, Hall Per, Irwanto Astrid, Humphreys Keith, Li Jingmei, Czene Kamila, Chang-Claude Jenny, Hein Rebecca, Rudolp Anja, Seibold Petra, Flesch-Janys Dieter et at (including Kataja Vesa, Kosma Veli-Matti, Hartikainen Jaana M, Mannermaa Arto). 2014. MicroRNA Related Polymorphisms and Breast Cancer Risk. PLOS ONE [ONLINE] 9 11: e109973 (1-12). 2014
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Johnson Nichola, Dudbridge Frank, Orr Nick, Gibson Lorna, Jones Michael E, Schoemaker Minouk J, Folkerd Elizabeth J, Haynes Ben P, Hopper John L, Southey Melissa C, Dite Gillian S, Apicella Carmel, Schmidt Marjanka K, Broeks Annegien, Van T Veer Laura J, Atsma Femke et al. 2014. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study. BREAST CANCER RESEARCH AND TREATMENT 16 3: R51. 2014
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Ghoussaini M, Edwards SL, Michailidou K, Nord S, Cowper-Sal Lari R, Desai K, Kar S, Hillman KM, Kaufmann S, Glubb DM, Beesley J, Dennis J, Bolla MK, Wang Q, Dicks E, Guo Q, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, et al.. 2014. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nature Communications 4: Article number:4999. 2014
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Auvinen Päivi, Rilla Kirsi, Tumelius Ritva, Tammi Markku, Sironen Reijo, Soini Ylermi, Kosma Veli-Matti, Mannermaa Arto, Viikari Jukka, Tammi Raija. 2014. Hyaluronan synthases (HAS1-3) in stromal and malignant cells correlate with breast cancer grade and predict patient survival. BREAST CANCER RESEARCH AND TREATMENT 143 2: 277-286. 2014
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Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, Tomiak E, Neuhausen SL, Teo ZL, Khan S, Aittomäki K, Moilanen JS, Turnbull C, Seal S, Mannermaa A, Kallioniemi A, Lindeman GJ, Buys SS, Andrulis IL, Radice P, Tondini C, Manoukian S, Toland AE, Miron P, Weitzel JN, Domchek SM, Poppe B, Claes KB, Yannoukakos D, Concannon P, Bernste. 2014. Breast-cancer risk in families with mutations in PALB2. NEW ENGLAND JOURNAL OF MEDICINE 371 6: 497-506. 2014
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Agarwal D, Pineda S, Michailidou K, Herranz J, Pita G, Moreno LT, Mannermaa A, Kataja V, Kosma V-M, Hartikainen J, Easton DF, Pharoah PDP, Arias-Perez JI, Zamora P, Benitez J, Milne RL et.al. 2014. FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium. BRITISH JOURNAL OF CANCER 110 4: 1088-1100. 2014
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Mantere T, Haanpää M, Hanenberg H, Schleutker J, Kallioniemi A, Kähkönen M, Parto K, Avela K, Aittomäki K, von Koskull H, Hartikainen JM, Kosma VM, Laasanen SL, Mannermaa A, Pylkäs K, Winqvist R. 2014. Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer. CLINICAL GENETICS (COPENHAGEN) 88: 68-73. 2014
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Meyer KB, O'Reilly M, Michailidou K, Carlebur S, Edwards SL, French JD, Prathalingham R, Dennis J, Bolla MK, Wang Q, de Santiago I, Hopper JL, Tsimiklis H, Apicella C, Southey MC, Schmidt MK, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, et al.. 2013. Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1. AMERICAN JOURNAL OF HUMAN GENETICS 93: 1046-1060. 2013
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Tuhkanen H, Hartikainen JM, Soini Y, Velasco G, Sironen R, Nykopp TK, Kataja V, Eskelinen M, Kosma VM, Mannermaa A.. 2013. Matriptase-2 gene (TMPRSS6) variants associate with breast cancer survival, and reduced expression is related to triple-negative breast cancer INTERNATIONAL JOURNAL OF CANCER 133 10: 2334-2340. 2013
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Peltonen HM, Haapasalo A, Hiltunen M, Kataja V, Kosma VM, Mannermaa A. 2013. γ-Secretase Components as Predictors of Breast Cancer Outcome. PLOS ONE [ONLINE] 8 11: e79249, 1-13. 2013
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Nickels S, Truong T, Hein R, Stevens K, Buck K, Behrens S, Eilber U, Schmidt M, Häberle L, Vrieling A, Gaudet M, Figueroa J, Schoof N, Spurdle AB, Rudolph A, Fasching PA, Hopper JL, Makalic E, Schmidt DF, Southey MC, Beckmann MW, Ekici AB, Fletcher O, Gibson L, Silva Idos S, Peto J, Humphreys MK, Wang J, Cordina-Duverger E, Menegaux F, Nordestgaard BG, Bojesen SE, Lanng C, Anton-Culver H, Ziogas A. 2013. Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.. PLOS GENETICS [ONLINE) 9 3: e1003284. 2013
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Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A et. al. 2013. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. NATURE GENETICS 45 4: 353-61. 2013
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Gaudet MM, Kuchenbaecker KB, Vijai J, Klein RJ, Kirchhoff T, McGuffog L, Barrowdale D, Dunning AM, Lee A, Dennis J, Healey S, Dicks E, Soucy P, Sinilnikova OM, Pankratz VS, Wang X, Eldridge RC, Tessier DC, Vincent D, Bacot F, Hogervorst FB, Peock S, Stoppa-Lyonnet D; KConFab Investigators, Peterlongo P, Schmutzler RK, Nathanson KL, Piedmonte M, Singer CF, Thomassen M; Ontario Cancer Genetics Netwo. 2013. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLOS GENETICS [ONLINE) 9 3: e1003173. 2013
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Justenhoven C, Obazee O, Winter S, Rabstein S, Lotz A, Harth V, Pesch B, Brüning T, Baisch C, Hartikainen JM, Mannermaa A, Kosma VM, Kataja V, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Fasching PA, Beckmann M, Ekici AB, Hein A, Hall P, Li J, Chang-Claude J, Flesch-Janys D, Seibold P, Rudolph A, Hamann U, Ko YD, Brauch H. & al.. 2013. The UGT1A6_19_GG genotype is a breast cancer risk factor. Frontiers in genetics 4 104: 1-6. 2013
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Hein R, Flesch-Janys D, Dahmen N, Beckmann L, Lindström S, Schoof N, Czene K, Mittelstraß K, Illig T, Seibold P, Behrens S, Humphreys K, Li J, Liu J, Olson et al. 2013. A genome-wide association study to identify genetic susceptibility loci that modify ductal and lobular postmenopausal breast cancer risk associated with menopausal hormone therapy use: a two-stage design with replication. BREAST CANCER RESEARCH AND TREATMENT 138 2: 529-42. 2013
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Garcia-Closas M, Couch FJ, Lindstrom S, Michailidou K, Schmidt MK, Brook MN, Orr N, Rhie SK, Riboli E, Feigelson HS, Le Marchand L, Buring JE, Eccles D, et. al. 2013. Genome-wide association studies identify four ER negative-specific breast cancer risk loci. NATURE GENETICS 45 4: 392-8. 2013
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French JD, Ghoussaini M, Edwards SL, Meyer KB, Michailidou K, Ahmed S, Khan S, Maranian MJ, O'Reilly M, Hillman KM, Betts JA, Carroll T, Bailey PJ, Dicks E et.al.. 2013. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. AMERICAN JOURNAL OF HUMAN GENETICS 92 4: 489-503. 2013
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Bojesen SE, Pooley KA, Johnatty SE, Beesley J, Michailidou K, Tyrer JP, Edwards SL, Pickett HA, Shen HC, Smart CE, Hillman KM, Mai PL, Lawrenson K, Stutz et al. 2013. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. NATURE GENETICS 45 4: 371-84. 2013
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Malinen M, Jääskeläinen T, Pelkonen M, Heikkinen S, Väisänen S, Kosma VM, Nieminen K, Mannermaa A, Palvimo JJ. 2012. Proto-oncogene PIM-1 is a novel estrogen receptor target associating with high grade breast tumors Molecular and cellular endocrinology 2013; 365 2: 270-276. 2012
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Wishart GC, Bajdik CD, Dicks E, Provenzano E, Schmidt MK, Sherman M, Greenberg DC,. Green AR, Gelmon KA, Kosma V-M, Olson JE, Beckmann MW, Winqvist R, Cross SS, Severi G, Huntsman D, Pylkäs K, Ellis I, Nielsen TO, Giles G, et.al.. 2012. PREDICT Plus: Development and validation of a prognostic model for early breast cancer that includes HER2. BRITISH JOURNAL OF CANCER 107 5: 800-807. 2012
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Weischer M, Nordestgaard BG, Pharoah P, Bolla MK, Nevanlinna H, van't Veer LJ, Garcia-Closas M, Jopper JL, Hall P, Andrulis IL, Devilee P, Fasching PA, Anton-Culver H, Lambrechts D, Hooning M, Cox A, Giles GG, Burwinkel B, Lindblom A, Couch FJ et.al.. 2012. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. JOURNAL OF CLINICAL ONCOLOGY 30 35: 4308-16. 2012
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Warren H, Dudbridge F, Fletcher O, Orr N, Johnson N, Hopper JL, Apicella C, Southey MC, Mahmoodi M, Schmidt MK, Broeks A, Cornelissen S, Braaf LM, Muir KR, Lophatananon A, Chaiwerawattana A, Wiangnon S, Fasching PA, Beckmann MW, Ekici AB et al. 2012. 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium. CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 21 10: 1783-1791. 2012
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Tengström M, Mannermaa A, Kosma V-M, Hirvonen A, Kataja V. 2012. SULT1A1 rs9282861 polymorphism-a potential modifier of efficacy of the systemic adjuvant therapy in breast cancer?. BMC CANCER [ONLINE: HTTP://WWW.BIOMEDCENTRAL.COM/BMCCANCER/] 12: 257. 2012
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Solyom S, Aressy B, Pylkäs K, Patterson-Fortin J, Hartikainen JM, Kallioniemi A, Kauppila S, Nikkilä J, Kosma VM, Mannermaa A, Greenberg RA, Winqvist R.. 2012. Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions. SCIENCE TRANSLATIONAL MEDICINE 4 122: 122-123. 2012
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Stevens Kristen N, Fredericksen Zachary, Vachon Celine M, Wang Xianshu, Margolin Sara, Lindblom Annika, Nevanlinna Heli, Greco Dario, Aittomäki Kristiina, Blomqvist Carl, Chang-Claude Jenny, Vrieling Alina, Flesch-Janys Dieter, Sinn Hans-Peter, Wang-Gohrke Shan, Nickels Stefan, Brauch Hiltrud, Ko Yon-Dschun, Fischer Hans-Peter, Schmutzler Rita K. 2012. 19p13.1 Is a Triple-Negative-Specific Breast Cancer Susceptibility Locus. CANCER RESEARCH 72: 1795-1803. 2012
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Lambrechts D, Truong T, Justenhoven C, Humphreys MK, Wang J, Hopper JL, Dite GS, Apicella C, Southey MC, Schmidt MK, Broeks A, Cornelissen S, van Hien R, Sawyer E, Tomlinson I, Kerin M, Miller N, Milne RL, Zamora MP, Pérez JI et.al.. 2012. 11q13 is a susceptibility locus for hormone receptor positive breast cancer. HUMAN MUTATION 33 7: 1123-1132. 2012
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Hein R, Maranian M, Hopper J L, Kapuscinski M K, Southey M C, Park D J, Schmidt M K, Broeks A, Hogervorst F B L, Bueno-de-Mesquit H B, Muir K R, Lophatananon A, Rattanamongkongul S, Puttawibul P, Fasching P A, Hein A, Ekici A B, Beckmann M W, Fletcher O, Johnson N, et.al.. 2012. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC). PLOS ONE [ONLINE] 7 8: -. 2012
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Hartikainen JM,Tengström M, Kosma VM, Kinnula VL, Mannermaa A, Soini Y.. 2012. Genetic Polymorphisms and Protein Expression of NRF2 and Sulfiredoxin Predict Survival Outcomes in Breast Cancer. CANCER RESEARCH 72 21: 5537-5546. 2012
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Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, Dicks E, Dennis J, Wang Q, Humphreys MK, Luccarini C, Baynes C, Conroy D, Maranian M, Ahmed S, Drive K, Johnson N, Orr N, Dos Santos Silva I, Waisfisz Q, Meijers-Heijboer H, et al. 2012. Genome-wide association analysis identifies three new breast cancer susceptibility loci. NATURE GENETICS 44 3: 312-318. 2012
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Fasching PA, Pharoah PD, Cox A, Nevanlinna H, Bojesen SE, Karn T, Broeks A, Van Leeuwen FE, Van't Veer LJ, Udo R, Dunning AM, Greco D, Aittomäki K, Blomqvist C, Shah M, Nordestgaard BG, Flyger H, Hopper JL, Southey MC, Apicella C, et.al.. 2012. The role of genetic breast cancer susceptibility variants as prognostic factors. HUMAN MOLECULAR GENETICS 21 17: 3926-3939. 2012
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Berdel B, Nieminen K, Soini Y, Tengström M, Malinen M, Kosma VM, Palvimo J, Mannermaa A. 2012. Histone demethylase GASC1 - a potential prognostic and predictive marker in invasive breast cancer.. BMC CANCER [ONLINE: HTTP://WWW.BIOMEDCENTRAL.COM/BMCCANCER/] 12 516: e1-15. 2012
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Auvinen P, Tammi R, Kosma VM, Sironen R, Soini Y, Mannermaa A, Tumelius R, Uljas E, Tammi M. 2012. Increased hyaluronan content and stromal cell CD44 associate with HER2 positivity and poor prognosis in human breast cancer. INTERNATIONAL JOURNAL OF CANCER 132 3: 531-539. 2012
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Kirchhoff T, Gaudet MM, Antoniou AC, McGuffog L, Humphreys MK, Dunning AM, Bojesen SE, Nordestgaard BG, Flyger H, Kang D, Yoo KY, Noh DY, Ahn SH, Dork T, Schürmann P, Karstens JH, Hillemanns P, Couch FJ, Olson J, Vachon C, et.al.. 2012. Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2 PLOS ONE [ONLINE] 7 6: e35706. 2012
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Milne Roger L, Lorenzo-Bermejo Justo, Burwinkel Barbara, Malats Nuria, Arias Jose Ignasio, Zamora Pilar M, Benitéz Javier, humphreys Manjeet K, Garciá-Closas Montserrat, Chanock Stephen J, Lissowska Jolanta, Sherman Mark E, Mannermaa Arto, Kataja Vesa, Kosma Veli-Matti, Nevanlinna Heli, Heikkinen Tuomas, Aittomäki Kristiina Blomqvist Carl, Anto-Culver Hoda, et al.. 2011. 7q21-rs6964587 and breast cancer risk: an extended case¿control study by the Breast Cancer Association Consortium JOURNAL OF MEDICAL GENETICS 48 10: 698-702. 2011
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Yang Xiaohong R, Chang-Claude Jenny, Goode Ellen L, Couch Fergus J, Nevanlinna Heli, Milne Roger L, Gaudet Mia, Schmidt Marjanka K, Broeks Annegien, Cox Angela, Fasching Peter A, Hein Rebecca, Spurdle Amanda B, Blows Fiona, Driver Kristy, Flesch-Janys Dieter, Heinz Judith, Sinn Peter, Vrieling Alina, Heikkinen Tuomas et al. 2011. Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies. JOURNAL OF THE NATIONAL CANCER INSTITUTE 103 3: 250-263. 2011
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Stevens KN, Vachon CM, Lee AM, Slager S, Lesnick T, Olswold C, Fasching PA, Miron P, Eccles D, Carpenter JE, Godwin AK, Ambrosone C, Winqvist R, Brauch H; GENICA consortium, Schmidt MK, Cox A, Cross SS, Sawyer E, Hartmann A, Beckmann MW, Schulz-Wendtland R, Ekici AB, Tapper WJ, Gerty SM, Durcan L, Graham N, Hein R, Nickels S, Flesch-Janys D, Heinz J, Sinn HP, Konstantopoulou I, Fostira F, Pectasid. 2011. Common breast cancer susceptibility loci are associated with triple-negative breast cancer. CANCER RESEARCH 71 19: 6240-6249. 2011
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Stevens KN, Garcia-Closas M, Fredericksen Z, Kosel M, Pankratz VS, Hopper JL, Dite GS, Apicella C, Southey MC, Schmidt MK, Broeks A, Van 't Veer LJ, Tollenaar RA, Fasching PA, Beckmann MW, Hein A, Ekici AB, Johnson N, Peto J, Dos Santos Silva I, Gibson L, Sawyer E, Tomlinson I, Kerin MJ, Chanock S, Lissowska J, Hunter DJ, Hoover RN, Thomas GD, Milne RL, Pérez JA, González-Neira A, Benítez J, Burwi. 2011. Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk. BRITISH JOURNAL OF CANCER 105 12: 1934-9. 2011
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Soini Ylermi, Tuhkanen Hanna, Sironen Reijo, Virtanen Ismo, Kataja Vesa, Auvinen Päivi, Mannermaa Arto, Kosma Veli-Matti. 2011. Transcription factors zeb1, twist and snai1 in breast carcinoma BMC CANCER [ONLINE: HTTP://WWW.BIOMEDCENTRAL.COM/BMCCANCER/] 11 11: -. 2011
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Vuorela M, Pylkäs K, Hartikainen JM, Sundfeldt K, Lindblom A, von Wachenfeldt Wäppling A, Haanpää M, Puistola U, Rosengren A, Anttila M, Kosma VM, Mannermaa A, Winqvist R.. 2011. Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility. BREAST CANCER RESEARCH AND TREATMENT 130 3: 1003-10. 2011
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Milne RL, Goode EL, García-Closas M, Couch FJ, Severi G, Hein R, Fredericksen Z, Malats N, Zamora MP, Pérez JI, Benítez J, Dörk T, Schürmann P, Karstens JH, Hillemanns P, Cox A, Brock IW, Elliot G, Cross SS, Seal S, Turnbull C, Renwick A, Rahman N, Shen CY, Yu JC, Huang CS, Hou MF, Nordestgaard BG, Bojesen SE, Lanng C, Alnæs GG, Kristensen V, Børrensen-Dale AL, Hopper JL, Dite GS, Apicella C, Sout. 2011. Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor-Positive, Lower Grade Breast Cancer. CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 20 10: 2222-2231. 2011
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Jouppila-Mättö A, Tuhkanen H, Soini Y, Pukkila M, Närkiö-Mäkelä M, Sironen R, Virtanen I, Mannermaa A, Kosma V-M. 2011. Transcription of factor snail1 expression and poor survival in pharyngeal squamous cell carcinoma. HISTOLOGY AND HISTOPATHOLOGY 26: 443-449. 2011
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Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, Millikan RC, Wang X, Ademuyiwa F, Ahmed S, Ambrosone CB, Baglietto L, Balleine R, Bandera EV, Beckmann MW, Berg CD, Bernstein L, Blomqvist C, Blot WJ, Brauch H, Buring JE, Carey LA, Carpenter JE, Chang-Claude J, Chanock SJ, Chasman DI, Clarke CL, Cox A, Cross SS, Deming SL, Diasio RB, Dimopoulos AM, Driver WR, Dünnebier T, Durcan L, Eccles D, Ed. 2011. A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer NATURE GENETICS 43 12: 1210-1214. 2011
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Figueroa JD, Garcia-Closas M, Humphreys M, Platte R, Hopper JL, Southey MC, Apicella C, Hammet F, Schmidt MK, Broeks A, Tollenaar RA, Van't Veer LJ, Fasching PA, Beckmann MW, Ekici AB, Strick R, Peto J, Dos Santos Silva I, Fletcher O, Johnson N, Sawyer E, Tomlinson I, Kerin M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Bojesen S, Flyger H, Nordestgaard BG, Benítez J, Milne RL, Ignacio Arias J, Z. 2011. Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium. HUMAN MOLECULAR GENETICS 20 23: 4693-4706. 2011
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Broeks, Annegien; Schmidt, Marjanka K; Sherman, Mark E; Couch, Fergus J; Hopper, John L; Dite, Gillian S; Apicella, Carmen; Smith, Letitia D; Hammet, Fleur; Southey, Melissa C; Van't Veer, Laura J; de Groot, Renate; Smit, Vincent T. H. B. M; Fasching, Peter A; Beckmann, Matthias W; Jud, Sebastian; Ekici, Arif B; Hartmann, Arndt; Hein, Alexander; Schulz-Wendtland, Ruediger et al.. 2011. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. HUMAN MOLECULAR GENETICS 20 16: 3289-3303. 2011
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Juoppila-Mättö Anna, Närkiö-Mäkelä Mervi, Soini Ylermi, Pukkila Matti, Sironen Reijo, Tuhkanen Hanna, Mannermaa Arto, Kosma Veli-Matti. 2011. Twist and snai1 expression in pharyngeal squamous cell carcinoma stroma is related to cancer progression BMC CANCER [ONLINE: HTTP://WWW.BIOMEDCENTRAL.COM/BMCCANCER/] 11: 350. 2011
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Azzato EM, Tyrer J, Fasching PA, Beckmann MW, Ekici AB, Schulz-Wendtland R, Bojesen SE, Nordestgaard BG, Flyger H, Milne RL, et.al.. 2010. Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival. JOURNAL OF THE NATIONAL CANCER INSTITUTE 102 9: 650-662. 2010
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Fletcher O, Johnson N, Dos Santos Silva I, Orr N, Ashworth A, Nevanlinna H, Heikkinen T, Aittomäki K, Blomqvist C, Burwinkel B, et.al.. 2010. Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 19 9: 2143-2151. 2010
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Kauppinen J, Kosma V-M, Soini Y, Sironen R, Nissinen M, Nykopp T, Kärjä V, Eskelinen M, Kataja V, Mannermaa A. 2010. ST14 gene variant and decreased matriptase protein expression predict poor breast cancer survival CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 19 9: 2133-2142. 2010
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Milne RL, Gaudet MM, Spurdle AB, Fasching PA, Couch FJ & et al. 2010. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the Breast Cancer Association Consortium: a combined case-controt study BREAST CANCER RESEARCH [ONLINE: HTTP://BREAST-CANCER-RESEARCH.COM/] 12 6: 110. 2010
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Milne RL, Benítez J, Nevanlinna H, Heikkinen T..., Mannermaa A, Kataja V, Kosma V-M. 2009. Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042 JOURNAL OF THE NATIONAL CANCER INSTITUTE 101 14: 1012-1018. 2009
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Vepsäläinen S, Helisalmi S, Mannermaa A, Pirttilä T, Soininen H, Hiltunen M, Helisalmi S, Pirttilä T, Soininen H, Hiltunen M. 2009. Combined risk effects of IDE and NEP gene variants on Alzheimer disease. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY 80: 1268-1270. 2009
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Tuhkanen H, Soini Y, Kosma V-M, Anttila M, Sironen R, Hämäläinen K, Kukkonen L, Virtanen I, Mannermaa A. 2009. Nuclear expression of Snail1 in borderline and malignant epithelial ovarian tumours is associated with tumour progression. BMC CANCER [ONLINE: HTTP://WWW.BIOMEDCENTRAL.COM/BMCCANCER/] 9 289. 2009
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Alafuzoff I, Aho L, Helisalmi S, Mannermaa A, Soininen H, Soininen H. 2009. Beta-amyloid deposition in brains of subjects with diabetes NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY 1: 60-68. 2009
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Gaudet MM, Milne RL, Cox A, Camp NJ, Goode EL..., Mannermaa A, Kataja V, Kosma V-M, Lindblom SM...et al. 2009. Five polymorphisms and breast cancer risk: results from the breast cancer association consortium. CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 18 5: 1610-1616. 2009
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Dunning AM, Healey CS, Baynes C, Maia A-T, Scollen S, Vega A, Rodrígues R, Barbosa-Morais N L, Ponder BAJ..., Mannermaa A, Kosma V-M, ...Pooley KA, Chenevix-Trench G. 2009. Association of ESR1 gene tagging SNPs with breast cancer risk. HUMAN MOLECULAR GENETICS 18 6: 1131-1139. 2009
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Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, Mannermaa A, Kosma V-M, Kataja V, ...Easton DF. 2009. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. NATURE GENETICS 41 5: 585-590. 2009
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Erkko H, Dowty JG, Nikkilä J, Syrjäkoski K, Mannermaa A, Pylkäs K, Southey MC, Holli K, Kallioniemi A, Jukkola-Vuorinen A, Kataja Vesa, Kosma V-M, Xia B, Livingston DM, Wingvist R, Hopper JL. 2008. Penetrance analysis of the PALB2 c.1592delT founder mutation. CLINICAL CANCER RESEARCH 14 14: 4667-4671. 2008
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Fagerholm Rainer, Hofstetter Barbara, Tommiska Johanna, Aaltonen Kirsimari, Vrtel Radek, Syrjäkoski Kirsi, Kallioniemi Anne, Kilpivaara Outi, Mannermaa Arto, Kosma Veli-Matti, Uusitupa Matti, Eskelinen Matti, Kataja Vesa, Aittomäki Kristiina. 2008. NAD(P)H:quinone oxidoreductase 1 NQ01*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer. NATURE GENETICS 40 7: 844-853. 2008
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Garcia-Closas M, Hall P, Nevanlinna H ..., Mannermaa A, Uusitupa M, Eskelinen M, Tengström M, Kosma V-M, Kataja V, Chenevix-Trench G .... 2008. Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLOS GENETICS [ONLINE) 4 4: [e1000054]. 2008
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Vepsäläinen S, Parkinson M, Helisalmi S, Mannermaa A, Soininen H, Tanzi RE, Bertram L, Hiltunen M, Vepsäläinen S, Helisalmi S, Soininen H, Hiltunen M. 2007. Insulin-degrading enzyme is genetically associated wirh Alzheimer's disease in the finnish population JOURNAL OF MEDICAL GENETICS 44: 606-608. 2007
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Hartikainen JM, Mannermaa A, Heinonen S, Kosma V-M, Kataja V. 2007. A BRCA2 mutation, 4088insA, in a Finnish breast and ovarian cancer family associated with favourable clinical course. ANTICANCER RESEARCH 27: 4295-4300. 2007
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Erkko Hannele, Bing Xia, Nikkilä Jenni, Schleutker Johanna, Syrjäkoski Kirsi, Mannermaa Arto, Kallioniemi Anne, Pylkäs Katri, Karppinen Sanna-Maria, Rapakko Katrin, Alexander Miron, Qing Sheng, Guilan Li, Mattila Henna, Daphene W. Bell. 2007. A recurrent mutation in PALB2 in Finnish cancer families. NATURE (LONDON) 446: 316-319. 2007
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Hartikainen JM, Kataja V, Pirskanen M, Arffman A, Ristomaa U, Vahteristo P, Ryynänen M, Heinonen S, Kosma V-M, Mannermaa A. 2007. Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families CLINICAL GENETICS (COPENHAGEN) 72: 311-320. 2007
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Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MWR, Pooley KA..., Mannermaa A, Hartikainen J, Kataja V, Kosma V-M, ... Couch FJ .... 2007. A common coding variant in CASP8 is associated with breast cancer risk. NATURE GENETICS 39 3: 352-358. 2007
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Easton DF, Pooley KA, Dunning AM..., Mannermaa A, Kosma V-M, Kataja V, Hartikainen J. 2007. Genome-wide association study identifies novel breast cancer susceptibility loci NATURE (LONDON) 447: 1087-1093. 2007
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Hartikainen JM, Tuhkanen H, Kataja V, Eskelinen M, Uusitupa M, Kosma V-M, Mannermaa A. 2006. Refinement of the 22q12-q13 Breast Cancer-Associated Region:Evidence of TMPRSS6 as a Candidate in an Eastern Finnish Population CLINICAL CANCER RESEARCH 12 5: 1454-1462. 2006
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Helisalmi S, Vepsäläinen S, Koivisto AM, Mannermaa A, Iivonen S, Hiltunen M, Kiviniemi V, Soininen H, Helisalmi S, Vepsäläinen S, Koivisto AM, Iivonen S, Hiltunen M, Soininen H. 2006. Association of CYP46 intron 2 polymorphism in Finnish Alzheimer¿s disease samples and a global scale summary. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY 77: 421-422. 2006
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The Breast Cancer Association Consortium, Mannermaa A, Kataja V, Kosma V-M. 2006. Commonly studied single-nucleotide polymorphism and breast cancer: results from the breast cancer association consortium. JOURNAL OF THE NATIONAL CANCER INSTITUTE 98 19: 1382-1396. 2006
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Tuhkanen H, Anttila M, Kosma V-M, Heinonen S, Juhola M, Helisalmi S, Kataja V, Mannermaa A, Helisalmi S. 2006. Frequent gene dosage alterations in stromal cells of epithelial ovarian carcinomas. INTERNATIONAL JOURNAL OF CANCER 119: 1345-1353. 2006
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Vepsäläinen S, Castren E, Helisalmi S, Iivonen S, Mannermaa A, Lehtovirta M, Hänninen T, Soininen H, Hiltunen M, Vepsäläinen S, Helisalmi S, Iivonen S, Soininen H, Hiltunen M. 2005. Genetic analysis on BDNF and TrkB gene polymorphisms in Alzheimer's disease. JOURNAL OF NEUROLOGY 252: 423-428. 2005
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Pirskanen M, Hiltunen M, Mannermaa A, Helisalmi S, Lehtovirta M, Hänninen T, Soininen H, Hiltunen M, Helisalmi S, Soininen H. 2005. Estrogen receptor beta gene variants are associated with increased risk of Alzheimer¿s disease in women EUROPEAN JOURNAL OF HUMAN GENETICS 13: 1000-1006. 2005
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Hartikainen JM, Tuhkanen H, Kataja V, Dunning AM, Antoniou A, Smith P, Arffman A, Pirskanen M, Easton DF, Eskelinen M, Uusitupa M, Kosma V-M, Mannermaa A. 2005. An autosome-wide scan for linkage disequilibrium-based association in sporadic breast cancer cases in Eastern Finland: three candidate regions found. CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION 14 1: 75-80. 2005
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The CHEK2 Breast Cancer Case-Control Consortium, Kataja V. 2004. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. AMERICAN JOURNAL OF HUMAN GENETICS 74: 1175-1182. 2004
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Dunning AM, Ellis PD, McBride S, Kirschenlohr HL, Healey CS, Kemp PR, Luben RN, Chang-Claude J, Mannermaa A, Kataja V, Pharoah PDP, Easton DF, Ponder BAJ, Metcalfe JC. 2003. A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer CANCER RESEARCH 63: 2610-2615. 2003
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Korhonen S, Romppanen E-L, Hiltunen M, Mannermaa A, Punnonen K, Hippeläinen M, Heinonen S. 2002. Lack of association between C-850T polymorphism of the gene encoding tumor necrosis factor-alfa and polycystic ovary syndrome. GYNECOLOGICAL ENDOCRINOLOGY 16: 271-274. 2002
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Pirskanen M, Hiltunen M, Mannermaa A, Iivonen S, Helisalmi S, Lehtovirta M, Koivisto AM, Laakso M, Soininen H, Alafuzoff I. 2002. Interleukin 1 alpha gene polymorphism as a suscetibility factor in Alzheimer¿s disease and its influence on the extend of histopathological hallmark lesions of Alzheimer¿s sisease. DEMENTIA AND GERIATRIC COGNITIVE DISORDERS 14: 123-127. 2002
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Laasanen J, Romppanen E-L, Hiltunen M, Helisalmi S, Mannermaa A, Punnonen K, Heinonen S. 2002. Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia EUROPEAN JOURNAL OF HUMAN GENETICS 10: 569-573. 2002
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Laasanen J, Hiltunen M, Punnonen K, Mannermaa A, Heinonen S. 2002. Fibrinogen and factor VII promoter polymorphism in women with preeclampsia. OBSTETRICS AND GYNECOLOGY 100: 317-20. 2002
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Laasanen J, Heinonen S, Hiltunen M, Mannermaa A, Laakso M. 2002. Polymorphism in the peroxisome proliferator-activated receptor-gamma gene in women with preeclampsia. EARLY HUMAN DEVELOPMENT 69: 77-82. 2002
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Autere JM, Hiltunen MJ, Mannermaa A, Jäkälä PA, Hartikainen PH, Majamaa K, Alafuzoff I, Soininen HS. 2002. Molecular genetic analysis of the alpha-synuclein and the parkin gene in Parkinson¿s disease in Finland. EUROPEAN JOURNAL OF NEUROLOGY 9 5: 479-483. 2002
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Kivipelto M, Helkala E-L, Laakso MP, Hänninen T, Hallikainen M, Alhainen K, Iivonen S, Mannermaa A, Tuomilehto J, Nissinen A, Soininen H. 2002. Apolipoprotein E epsilon4 allele, elevated midlife total cholesterol level, and high midlife systolic blood pressure are independent risk factors for late-life Alzheimer disease. ANNALS OF INTERNAL MEDICINE 137: 149-155. 2002
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Iivonen S, Hiltunen M, Alafuzoff I, Mannermaa A, Kerokoski P, Puoliväli J, Salminen A, Helisalmi S, Soininen H. 2002. Seladin-1 transcription is linked to neuronal degeneration in Alzheimer¿s disease. NEUROSCIENCE 113 2: 301-310. 2002
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Heiskanen J, Romppanen E-L, Hiltunen M, Iivonen S, Mannermaa A, Punnonen K, Heinonen S. 2002. Polymorphism in the tumor necrosis factor-alpha gene in women with preeclampsia JOURNAL OF ASSISTED REPRODUCTION AND GENETICS 19 5: 220-223. 2002
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Eloranta M-L, Heiskanen JTM, Hiltunen MJ, Mannermaa AJ, Punnonen KRA, Heinonen ST. 2002. Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alfa gene polymorphisms in Finnish women with obstetric cholestasis. EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY AND REPRODUCTIVE BIOLOGY 104: 109-112. 2002
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Anttila T, Helkala E-L, Kivipelto M, Hallikainen M, Alhainen K, Heinonen H, Mannermaa A, Tuomilehto J, Soininen H, Nissinen A. 2002. Midlife income, occupation, APOE status, and dementia NEUROLOGY 59: 887-893. 2002
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Kallinen J, Heinonen S, Palotie A, Mannermaa A, Ryynanen M. 2001. Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland. PRENATAL DIAGNOSIS 21: 409-412. 2001
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Makkonen N, Heinonen S, Hiltunen M, Helisalmi S, Mannermaa A, Kirkinen P. 2001. Apolipoprotein E alleles in women with pre-eclampsia JOURNAL OF CLINICAL PATHOLOGY 54: 652-654. 2001
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Kallinen J, Marin K, Heinonen S, Mannermaa A, Palotie A, Ryynänen M. 2001. Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: integration of gene tests and fetal karyotyping. BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY 108: 505-509. 2001
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Kallinen J, Heinonen S, Ryynänen M, Pulkkinen L, Mannermaa A. 2001. Antenatal genetic screening for congenital nephrosis PRENATAL DIAGNOSIS 21: 81-84. 2001
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Pirskanen M, Alafuzoff I, Hiltunen M, Mannermaa A, Helisalmi S, Lehtovirta M, Koivisto AM, Laakso M, Soininen H. 2001. An association between a subset of Finnish late-onset Alzheimer¿s disease and alpha2-macroglobulin. NEUROGENETICS 3: 171-172. 2001
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Hiltunen M, Mannermaa A, Thompson D, Easton D, Pirskanen M, Helisalmi S, Koivisto AM, Lehtovirta M, Ryynänen M, Soininen H. 2001. Genome-wide linkage disequilibrium mapping of late-onset Alzheimr¿s disease in Finland. NEUROLOGY 57: 1663-1668. 2001
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Heiskanen JT, Pirskanen MM, Hiltunen MJ, Mannermaa AJ, Punnonen KR, Heinonen ST. 2001. Insertion-deletion polymorphism in the gene for angiotensin-converting enzyme is associated with obstetric cholestasis but not with preeclampsia. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY 185: 600-603. 2001
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Heinonen S, Korhonen S, Hippeläinen M, Hiltunen M, Mannermaa A, Saarikoski S. 2001. Apolipoprotein E alleles in women with polycystic ovary syndrome. FERTILITY AND STERILITY 75 5: 878-880. 2001
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Heinonen S, Eloranta M-L, Heiskanen J, Punnonen K, Helisalmi S, Mannermaa A, Hiltunen M. 2001. Maternal susceptibility locus for obstetric cholestasis maps to chromosone region 2p13 in finnish patients. SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY 36: 766-770. 2001
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Finnilä S, Autere J, Lehtovirta M, Hartikainen P, Mannermaa A, Soininen H, Majamaa K. 2001. Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNA. JOURNAL OF MEDICAL GENETICS 38 6: 400-405. 2001
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Launonen V, Mannermaa A, Stenbäck F, Kosma V-M, Puistola U, Huusko P, Anttila M, Bloigu R, Saarikoski S, Kauppila A, Winqvist R. 2000. Loss of heterozygosity at chromosomes 3, 6, 8, 11, 16, and 17 in ovarian cancer: correlation to clinicopathological variables. CANCER GENETICS AND CYTOGENETICS 122: 49-54. 2000
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Karjalainen JM, Kellokoski JK, Mannermaa AJ, Kujala HE, Moisio KI, Mitchell PJ, Eskelinen MJ, Alhava EM, Kosma VM. 2000. Failure in post-transcriptional processing is a possible inactivation mechanism of AP-2 alfa in cutaneous melanoma BRITISH JOURNAL OF CANCER 82 12: 2015-2021. 2000
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Kallinen J, Heinonen S, Mannermaa A, Ryynänen M. 2000. Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation. CLINICAL GENETICS (COPENHAGEN) 58: 111-115. 2000
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Hiltunen M, Helisalmi S, Mannermaa A, Alafuzoff I, Koivisto AM, Lehtovirta M, Pirskanen M, Sulkava R, Verkkoniemi A, Soininen H. 2000. Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer¿s disease family: an Alu core sequence-stimulated recombination? EUROPEAN JOURNAL OF HUMAN GENETICS 8: 259-266. 2000
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Helisalmi S, Valve R, Karvonen MK, Hiltunen M, Pirskanen M, Mannermaa A, Koulu M, Pesonen U, Uusitupa M, Soininen H. 2000. The leucine (7)-to-proline (7) polymorphism in the signal peptide of neuropeptide y is not associated with Alzheimer¿s disease or the link apolipoprotein E. NEUROSCIENCE LETTERS 287: 25-28. 2000
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Helisalmi S, Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Alafuzoff I, Ryynänen M, Soininen H. 2000. Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer¿s disease?. NEUROSCIENCE LETTERS 278: 65-68. 2000
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Eloranta M-L, Heiskanen J, Hiltunen M, Helisalmi S, Mannermaa A, Heinonen S. 2000. Apolipoprotein E alleles in women with intrahepatic cholestasis of pregnancy. SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY 35: 966-968. 2000
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Alafuzoff I, Helisalmi S, Mannermaa A, Soininen H. 2000. Severity of cardiovascular disease, apolipoprotein E genotype, and brain pathology in aging and dementia. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES 903: 244-251. 2000
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Alafuzoff I, Helisalmi S, Mannermaa A, Riekkinen P Sr, Soininen H. 1999. Beta-amyloid load is not influenced by the severity of cardiovascular disease in aged and demented patients STROKE 30: 613-618. 1999
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Helisalmi S, Hiltunen M, Valonen P, Mannermaa A, Koivisto AM, Lehtovirta M, Ryynänen M, Soininen H. 1999. Promoter polymorphism (-491A/T) in the APOE gene of Finnish Alzheimer¿s disease patients and control individuals. JOURNAL OF NEUROLOGY 246: 821-824. 1999
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Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Helisalmi S, Ryynänen M, Riekkinen P Sr, Soininen H. 1999. Linkage disequilibrium in the 13q12 region in Finnish late onset Alzheimer`s disease patients. EUROPEAN JOURNAL OF HUMAN GENETICS 7: 652-658. 1999
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Ryynänen M, Heinonen S, Makkonen M, Kajanoja E, Mannermaa A, Kirkinen P. 1999. Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies EUROPEAN JOURNAL OF HUMAN GENETICS 7: 212-216. 1999
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Ryynänen M, Heinonen S, Makkonen M, Mannermaa A, Kirkinen P. 1998. Fragiili X-oireyhtymän mutaatioiden seulonta alkuraskauden aikana - tulokset ja äitien mielipiteet geenitestistä. DUODECIM 114: 2323-2329. 1998
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Lehtovirta M, Kuikka J, Helisalmi S, Hartikainen P, Mannermaa A, Ryynänen M, Riekkinen P Sr, Soininen H. 1998. Longitudinal SPECT study in Alzheimer`s disease: relation to apolipoprotein E polymorphism. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY 64: 742-746. 1998
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Hiltunen M, Mannermaa A, Helisalmi S, Koivisto A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1998. Butyrylcholinesterase K variant and apolipoprotein E4 genes do not act in synergy in Finnish late-onset Alzheimer¿s disease patients NEUROSCIENCE LETTERS 250: 69-71. 1998
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Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1997. No association between alfa1-antichymotrypsin polymorphism, apolipoprotein E and patients with late-onset Alzheimer`s disease NEUROSCIENCE LETTERS 231: 56-58. 1997
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Jäkälä P, Hänninen T, Ryynänen M, Laakso M, Partanen K, Mannermaa A, Soininen H. 1997. Fragile-X: Neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes. JOURNAL OF CLINICAL INVESTIGATION 100 2: 331-338. 1997
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Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1997. Lack of association between presenilin-1 polymorphism, Alzheimer's disease and apolipoprotein E ALZHEIMER'S RESEARCH 3: 159-161. 1997
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Lehtovirta M, Soininen H, Helisalmi S, Mannermaa A, Helkala E-L, Hartikainen P, Hänninen T, Ryynänen M, Riekkinen PJ Sr. 1996. Clinical and neuropsychological characteristics in familial and sporadic Alzheimer's disease: relation to apolipoprotein E polymorphism. NEUROLOGY 46: 413-419. 1996
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Mannermaa A, Pulkkinen L, Kajanoja E, Ryynänen M, Saarikoski S. 1996. Deletion in the FMR1 gene in a fragile-x male AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 64: 293-295. 1996
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Lehtovirta M, Soininen H, Laakso MP, Partanen K, Helisalmi S, Mannermaa A, Ryynänen M, Kuikka J, Hartikainen P, Riekkinen PJ Sr. 1996. SPECT and MRI analysis in Alzheimer's disease: relation to apolipoprotein E epsilon4 allele. JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY 60: 644-649. 1996
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Lehtovirta M, Partanen J, Könönen M, Soininen H, Helisalmi S, Mannermaa A, Ryynänen M, Hartikainen P, Riekkinen P Sr. 1996. Spectral analysis of EEG in Alzheimer's disease: relation to apolipoprotein E polymorphism NEUROBIOLOGY OF AGING 17 4: 523-526. 1996
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Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1996. Screening for amyloid beta precursor protein codon 665, 670/671 and 717 mutations in Finnish patients with Alzheimer's disease. NEUROSCIENCE LETTERS 205: 68-70. 1996
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Helisalmi S, Linnaranta K, Lehtovirta M, Mannermaa A, Heinonen O, Ryynänen M, Riekkinen P Sr, Soininen H. 1996. Apolipoprotein E polymorphism in patients with different neurodegenerative disorders NEUROSCIENCE LETTERS 205: 61-64. 1996
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Heinonen O, Lehtovirta M, Soininen H, Helisalmi S, Mannermaa A, Sorvari H, Kosunen O, Paljärvi L, Ryynänen M, Riekkinen PJ Sr. 1995. Alzheimer pathology of patients carrying apolipoprotein E epsilon4 allele. NEUROBIOLOGY OF AGING 16 4: 505-513. 1995
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Kosunen O, Talasniemi S, Lehtovirta M, Heinonen O, Helisalmi S, Mannermaa A, Paljärvi L, Ryynänen M, Riekkinen PJ Sr, Soininen H. 1995. Relation of coronary atherosclerosis and apolipoprotein E genotypes in Alzheimer patients. STROKE 26 5: 743-748. 1995
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Lehtovirta M, Helisalmi S, Mannermaa A, Soininen H, Koivisto K, Ryynänen M, Riekkinen P Sr. 1995. Apolipoprotein E polymorphism and Alzheimer's disease in Eastern Finland. NEUROSCIENCE LETTERS 185: 13-15. 1995
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Lehtovirta M, Laakso MP, Soininen H, Helisalmi S, Mannermaa A, Helkala E-L, Partanen K, Ryynänen M, Vainio P, Hartikainen P, Riekkinen PJ Sr. 1995. Volumes of hippocampus, amygdala and frontal lobe in Alzheimer patients with different apolipoprotein E genotypes. NEUROSCIENCE 67 1: 65-72. 1995
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Ryynänen M, Kirkinen P, Mannermaa A, Saarikoski S. 1995. Carrier diagnosis of the fragile X syndrome-A challenge in antenatal clinics AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY 172 4: 1236-1239. 1995
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Soininen H, Kosunen O, Helisalmi S, Mannermaa A, Paljärvi L, Talasniemi S, Ryynänen M, Riekkinen P Sr. 1995. A severe loss of choline acetyltransferase in the frontal cortex of Alzheimer patients carrying apolipoprotein e4 allele. NEUROSCIENCE LETTERS 187: 79-82. 1995
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Soininen H, Partanen K, Pitkänen A, Hallikainen M, Hänninen T, Helisalmi S, Mannermaa A, Ryynänen M, Koivisto K, Riekkinen P Sr. 1995. Decreased hippocampal volume asymmetry on MRIs in nondemented elderly subjects carrying the apolipoprotein E epsilon 4 allele. NEUROLOGY 45: 391-392. 1995