Arto Mannermaa
Professor
Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences
[email protected] | +358 40 355 2752
Research groups
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Genome Center of Eastern Finland 02.03.2009 -
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Cancer Center of Eastern Finland (CCEF) 01.01.2022 -
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Molecular Pathology and Genetics of Cancer 01.01.2022 -
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North-Savo Skin Cancer Program (NoSCaP)
Projects
Publications
279/279 items-
A Multi-View Deep Evidential Learning Approach for Mammogram Density Classification
Gudhe, Naga Raju; Mazen, Sudah; Sund, Reijo; Kosma, Veli-Matti; Behravan, Hamid; Mannermaa, Arto. 2024. IEEE access. 12: 67889-67909 A1 Journal article (refereed), original research -
A dataset of mammography images with area-based breast density values, breast area, and dense tissue segmentation masks
Behravan, Hamid; Gudhe, Naga Raju; Okuma, Hidemi; Sudah, Mazen; Mannermaa, Arto. 2024. Data in brief. 57: A1 Journal article (refereed), original research -
Circulating Micro-RNAs Predict the Risk of Recurrence in Triple-Negative Breast Cancer
Kujala, Jouni; Tengström, Maria; Heikkinen, Sami; Taipale, Mari; Kosma, Veli-Matti; Hartikainen, Jaana M; Mannermaa, Arto. 2024. Cells. 13: A1 Journal article (refereed), original research -
Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort
Räsänen, Joel; Heikkinen, Sami; Mäklin, Kiira; Lipponen, Anssi; Kuulasmaa, Teemu; Mehtonen, Juha; Korhonen, Ville E; Junkkari, Antti; Grenier-Boley, Benjamin; Bellenguez, Celine; Oinas, Minna; Avellan, Cecilia; Frantzén, Janek; Kotkansalo, Anna; Rinne, Jaakko; Ronkainen, Antti; Kauppinen, Mikko; von und zu Fraunberg, Mikael; Lönnrot, Kimmo; Satopää, Jarno; Perola, Markus; Koivisto, Anne M; Julkunen, Valtteri; Portaankorva, Anne M; Mannermaa, Arto; Soininen, Hilkka; Helisalmi, Seppo; Jääskeläinen. 2024. Neurology. 103: A1 Journal article (refereed), original research -
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Kentistou, Katherine A.; Kaisinger, Lena R.; Stankovic, Stasa; Vaudel, Marc; Mendes de Oliveira, Edson; Messina, Andrea; Walters, Robin G.; Liu, Xiaoxi; Busch, Alexander S.; Helgason, Hannes; Thompson, Deborah J.; Santoni, Federico; Petricek, Konstantin M.; Zouaghi, Yassine; Huang-Doran, Isabel; Gudbjartsson, Daniel F.; Bratland, Eirik; Lin, Kuang; Gardner, Eugene J.; Zhao, Yajie; Jia, Raina Y.; Terao, Chikashi; Riggan, Marjorie J.; Bolla, Manjeet K.; Yazdanpanah, Mojgan; Yazdanpanah, Nahid; Bra. 2024. Nature genetics. 56: 1397-1411 A1 Journal article (refereed), original research -
A FinnGen pilot clinical recall study for Alzheimer’s disease
Julkunen, Valtteri; Schwarz, Claudia; Kalapudas, Juho; Hallikainen, Merja; Piironen, Aino-Kaisa; Mannermaa, Arto; Kujala, Hanna; Laitinen, Timo; Kosma, Veli-Matti; Paajanen, Teemu I.; Kälviäinen, Reetta; Hiltunen, Mikko; Herukka, Sanna-Kaisa; Kärkkäinen, Sari; Kokkola, Tarja; Urjansson, Mia; FinnGen; Perola, Markus; Palotie, Aarno; Vuoksimaa, Eero; Runz, Heiko. 2023. Scientific reports. 13: . 12641 A1 Journal article (refereed), original research -
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2
Zanti, Maria; O'Mahony, Denise G.; Parsons, Michael T.; Li, Hongyan; Dennis, Joe; Aittomäkkiki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Aronson, Kristan J.; Augustinsson, Annelie; Becher, Heiko; Bojesen, Stig E.; Bolla, Manjeet K.; Brenner, Hermann; Brown, Melissa A.; Buys, Saundra S.; Canzian, Federico; Caputo, Sandrine M.; Castelao, Jose E.; Chang-Claude, Jenny; GC-HBOC study Collaborators; Czene, Kamila; Daly, Mary B.; De Nicolo, Arcangela; Devilee, Peter; Dörk, Thilo; Dunning, Ali. 2023. Human mutation. 2023: . 9961341 A1 Journal article (refereed), original research -
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Mueller, Stefanie H.; Lai, Alvina G.; Valkovskaya, Maria; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Lush, Michael; Abu-Ful, Zomoruda; Ahearn, Thomas U.; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Aronson, Kristan J.; Augustinsson, Annelie; Baert, Thais; Freeman, Laura E. Beane; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Brenner. 2023. Genome medicine. 15: . 7 A1 Journal article (refereed), original research -
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
Morra, Anna; Schreurs, Maartje A. C.; Andrulis, Irene L.; Anton-Culver, Hoda; Augustinsson, Annelie; Beckmann, Matthias W.; Behrens, Sabine; Bojesen, Stig E.; Bolla, Manjeet K.; Brauch, Hiltrud; Broeks, Annegien; Buys, Saundra S.; Camp, Nicola J.; Castelao, Jose E.; Cessna, Melissa H.; Chang-Claude, Jenny; Chung, Wendy K.; Colonna, Sarah, V; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Daly, Mary B.; Dennis, Joe; Devilee, Peter; Doerk, Thilo; Dunning, Alison M.; Dwek, Miriam; E. 2023. Cancer medicine. 12: 16142-16162 A1 Journal article (refereed), original research -
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
Levi, Hagai; Carmi, Shai; Rosset, Saharon; Yerushalmi, Rinat; Zick, Aviad; Yablonski-Peretz, Tamar; The BCAC Consortium; Wang, Qin; Bolla, Manjeet K; Dennis, Joe; Michailidou, Kyriaki; Lush, Michael; Ahearn, Thomas; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Arndt, Volker; Augustinsson, Annelie; Auvinen, Päivi; Beane Freeman, Laura; Beckmann, Matthias; Behrens, Sabine; Bermisheva, Marina; Bodelon, Clara; Bogdanova, Natalia V; Bojesen, Stig E; Brenner, Hermann; Byers, Helen; Camp. 2023. Journal of medical genetics. 60: 1186-1197 A1 Journal article (refereed), original research -
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
Figlioli, Gisella; Billaud, Amandine; Ahearn, Thomas U.; Antonenkova, Natalia N.; Becher, Heiko; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blok, Marinus J.; Bogdanova, Natalia V.; Bonanni, Bernardo; Burwinkel, Barbara; Camp, Nicola J.; Campbell, Archie; Castelao, Jose E.; Cessna, Melissa H.; Chanock, Stephen J.; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A.; Figueroa, Jonine D.; Gabrielson, Marike; Gago-Domin. 2023. European journal of human genetics. 31: 578-587 A1 Journal article (refereed), original research -
FinnGen provides genetic insights from a well-phenotyped isolated population
Kurki, Mitja I.; Karjalainen, Juha; Palta, Priit; Sipilä, Timo P.; Kristiansson, Kati; Donner, Kati M.; Reeve, Mary P.; Laivuori, Hannele; Aavikko, Mervi; Kaunisto, Mari A.; Loukola, Anu; Lahtela, Elisa; Mattsson, Hannele; Laiho, Päivi; Della Briotta Parolo, Pietro; Lehisto, Arto A.; Kanai, Masahiro; Mars, Nina; Rämö, Joel; Kiiskinen, Tuomo; Heyne, Henrike O.; Veerapen, Kumar; Rüeger, Sina; Lemmelä, Susanna; Zhou, Wei; Ruotsalainen, Sanni; Pärn, Kalle; Hiekkalinna, Tero; Koskelainen, Sami; Paaja. 2023. Nature. 613: 508-518 A1 Journal article (refereed), original research -
Nuclei instance segmentation from histopathology images using Bayesian dropout based deep learning
Gudhe, Naga Raju; Kosma, Veli-Matti; Behravan, Hamid; Mannermaa, Arto. 2023. Bmc medical imaging. 23: . 162 A1 Journal article (refereed), original research -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants
Muranen, Taru A.; Morra, Anna; Khan, Sofia; Barnes, Daniel R.; Bolla, Manjeet K.; Dennis, Joe; Keeman, Renske; Leslie, Goska; Parsons, Michael T.; Wang, Qin; Ahearn, Thomas U.; Aittomäki, Kristiina; Andrulis, Irene L.; Arun, Banu K.; Behrens, Sabine; Bialkowska, Katarzyna; Bojesen, Stig E.; Camp, Nicola J.; Chang-Claude, Jenny; Czene, Kamila; Devilee, Peter; Domchek, Susan M.; Dunning, Alison M.; Engel, Christoph; Evans, D. Gareth; Gago-Dominguez, Manuela; García-Closas, Montserrat; Gerdes, Anne. 2023. npj breast cancer. 9: . 37 A1 Journal article (refereed), original research -
Predicting cell type counts in whole slide histology images using evidential multi-task learning
Gudhe, Naga Raju; Sudah, Mazen; Mannermaa, Arto; Kosma, Veli-Matti; Behravan, Hamid. Teoksessa: Tomaszewski, John E; Ward, Aaron D(toim.) , 2023. Medical Imaging 2023: Digital and Computational Pathology. s. 239-247. SPIE A4 Conference proceedings -
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Figlioli, Gisella; Billaud, Amandine; Wang, Qin; Bolla, Manjeet K.; Dennis, Joe; Lush, Michael; Kvist, Anders; Adank, Muriel A.; Ahearn, Thomas U.; Antonenkova, Natalia N.; Auvinen, Päivi; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Brüning, Thomas; Camp, Nicola J.; Campbell, Archie; Castelao, Jose E.; Cessna, Melissa H.; NBCS Collaborators; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Eriksson, Mikael; Fasching, Peter A.; Flyger, Henrik; Gabri. 2023. Cancers. 15: A1 Journal article (refereed), original research -
Suusyövän epigenetiikka
Malinen Hanna; Mannermaa Arto; Siponen Maria. 2023. Suomen hammaslääkärilehti. 30: 30-36 A2 Review article, Literature review, Systematic review -
The impact of coding germline variants on contralateral breast cancer risk and survival
Morra, Anna; Mavaddat, Nasim; Muranen, Taru A.; Ahearn, Thomas U.; Allen, Jamie; Andrulis, Irene L.; Auvinen, Päivi; Becher, Heiko; Behrens, Sabine; Blomqvist, Carl; Bojesen, Stig E.; Bolla, Manjeet K.; Brauch, Hiltrud; Camp, Nicola J.; Carvalho, Sara; Castelao, Jose E.; Cessna, Melissa H.; Chang-Claude, Jenny; Chenevix-Trench, Georgia; NBCS Collaborators; Czene, Kamila; Decker, Brennan; Dennis, Joe; Dörk, Thilo; Dorling, Leila; Dunning, Alison M.; Ekici, Arif B.; Eriksson, Mikael; Evans, D. Gar. 2023. American journal of human genetics. 110: 475-486 A1 Journal article (refereed), original research -
The prognostic and predictive role of tumor-infiltrating lymphocytes (FoxP3 + and CD8 +) and tumor-associated macrophages in early HER2 + breast cancer
Jääskeläinen, Minna M; Tiainen, Satu; Siiskonen, Hanna; Ahtiainen, Maarit; Kuopio, Teijo; Rönkä, Aino; Kettunen, Tiia; Hämäläinen, Kirsi; Rilla, Kirsi; Harvima, Ilkka; Mannermaa, Arto; Auvinen, Päivi. 2023. Breast cancer research and treatment. 201: 183-192 A1 Journal article (refereed), original research -
A Genome-Wide Gene-Based Gene–Environment Interaction Study of Breast Cancer in More than 90,000 Women
Wang, Xiaoliang; Chen, Hongjie; Kapoor, Pooja Middha; Su, Yu-Ru; Bolla, Manjeet K.; Dennis, Joe; Dunning, Alison M.; Lush, Michael; Wang, Qin; Michailidou, Kyriaki; Pharoah, Paul D.P.; Hopper, John L.; Southey, Melissa C.; Koutros, Stella; Freeman, Laura E. Beane; Stone, Jennifer; Rennert, Gad; Shibli, Rana; Murphy, Rachel A.; Aronson, Kristan; Guénel, Pascal; Truong, Thérèse; Teras, Lauren R.; Hodge, James M.; Canzian, Federico; Kaaks, Rudolf; Brenner, Hermann; Arndt, Volker; Hoppe, Reiner; Lo,. 2022. Cancer research communications. 2: 211-219 A1 Journal article (refereed), original research -
Area-based breast percentage density estimation in mammograms using weight-adaptive multitask learning
Gudhe, Naga Raju; Behravan, Hamid; Sudah, Mazen; Okuma, Hidemi; Vanninen, Ritva; Kosma, Veli-Matti; Mannermaa, Arto. 2022. Scientific reports. 12: . 12060 A1 Journal article (refereed), original research -
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Dorling, Leila; Carvalho, Sara; Allen, Jamie; Parsons, Michael T.; Fortuno, Cristina; González-Neira, Anna; Heijl, Stephan M.; Adank, Muriel A.; Ahearn, Thomas U.; Andrulis, Irene L.; Auvinen, Päivi; Becher, Heiko; Beckmann, Matthias W.; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V.; Bojesen, Stig E.; Bolla, Manjeet K.; Bremer, Michael; Briceno, Ignacio; Camp, Nicola J.; Campbell, Archie; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Chenevix-Trench, Georgia; Collée, . 2022. Genome medicine. 14: . 51 A1 Journal article (refereed), original research -
Circulating Cell-Free DNA Reflects the Clonal Evolution of Breast Cancer Tumors
Kujala, Jouni; Hartikainen, Jaana M.; Tengström, Maria; Sironen, Reijo; Auvinen, Päivi; Kosma, Veli Matti; Mannermaa, Arto. 2022. Cancers. 14: . 1332 A1 Journal article (refereed), original research -
Common variants in breast cancer risk loci predispose to distinct tumor subtypes
Ahearn, Thomas U.; Zhang, Haoyu; Michailidou, Kyriaki; Milne, Roger L.; Bolla, Manjeet K.; Dennis, Joe; Dunning, Alison M.; Lush, Michael; Wang, Qin; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Aronson, Kristan J.; Auer, Paul L.; Augustinsson, Annelie; Baten, Adinda; Becher, Heiko; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bojesen, Stig E.; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brauch, Hiltrud; Brenner, Hermann; Brooks-Wilson, Angela; Brüning, Thoma. 2022. Breast cancer research. 24: . 2 A1 Journal article (refereed), original research -
Distinct reproductive risk profiles for intrinsic-like breast cancer subtypes: pooled analysis of population-based studies
Jung, Audrey Y; Ahearn, Thomas U; Behrens, Sabine; Middha, Pooja; Bolla, Manjeet K; Wang, Qin; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Beane Freeman, Laura E; Becher, Heiko; Brenner, Hermann; Canzian, Federico; Carey, Lisa A; CTS Consortium; Czene, Kamila; Eliassen, A Heather; Eriksson, Mikael; Evans, D Gareth; Figueroa, Jonine D; Fritschi, Lin; Gabrielson, Marike; Giles, Graham G; Guénel, Pascal; Hadjisavvas, Andreas; Haiman, Christopher A; Håkansson, Niclas; Hall, Per; Hamann. 2022. Journal of the national cancer institute. 114: 1706-1719 A1 Journal article (refereed), original research -
Expression profiles of small non-coding RNAs in breast cancer tumors characterize clinicopathological features and show prognostic and predictive potential
Kärkkäinen, Emmi; Heikkinen, Sami; Tengström, Maria; Kosma, Veli-Matti; Mannermaa, Arto; Hartikainen, Jaana M.. 2022. Scientific reports. 12: . 22614 A1 Journal article (refereed), original research -
Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis
Ruotsalainen, Sanni E.; Surakka, Ida; Mars, Nina; Karjalainen, Juha; Kurki, Mitja; Kanai, Masahiro; Krebs, Kristi; Graham, Sarah; Mishra, Pashupati P.; Mishra, Binisha H.; Sinisalo, Juha; Palta, Priit; Lehtimäki, Terho; Raitakari, Olli; Esko, Tõnu; Metspalu, Andres; Mägi, Reedik; Nelis, Mari; Milani, Lili; Matsuda, Koichi; Yamanashi, Yuji; Furukawa, Yoichi; Morisaki, Takayuki; Murakami, Yoshinori; Kamatani, Yoichiro; Muto, Kaori; Nagai, Akiko; Obara, Wataru; Yamaji, Ken; Takahashi, Kazuhisa; Asa. 2022. Communications biology. 5: . 802 A1 Journal article (refereed), original research -
Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes
Tamlander, Max; Mars, Nina; Pirinen, Matti; Palotie, Aarno; Daly, Mark; Riley-Gills, Bridget; Jacob, Howard; Paul, Dirk; Runz, Heiko; John, Sally; Plenge, Robert; Maranville, Joseph; Okafo, George; Lawless, Nathan; Salminen-Mankonen, Heli; McCarthy, Mark; Hunkapiller, Julie; Ehm, Meg; Auro, Kirsi; Longerich, Simonne; Fox, Caroline; Mälarstig, Anders; Klinger, Katherine; Raipal, Deepak; Green, Eric; Graham, Robert; Yang, Robert; O’Donnell, Chris; Mäkelä, Tomi; Kaprio, Jaakko; Virolainen, Petri; H. 2022. Communications biology. 5: . 158 A1 Journal article (refereed), original research -
Malignant and in situ subtypes of melanoma are associated with basal and squamous cell carcinoma and its precancerous lesions
Suhonen, Ville; Siiskonen, Hanna; Suni, Maunu; Rummukainen, Jaana; Mannermaa, Arto; Harvima, Ilkka T.. 2022. European journal of dermatology. 32: 187-194 A1 Journal article (refereed), original research -
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
Breast Cancer Association Consortium; Mavaddat, Nasim; Dorling, Leila; Carvalho, Sara; Allen, Jamie; González-Neira, Anna; Keeman, Renske; Bolla, Manjeet K.; Dennis, Joe; Wang, Qin; Ahearn, Thomas U.; Andrulis, Irene L.; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Briceno, Ignacio; Brüning, Thomas; Camp, Nicola J.; Campbell, Archie; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Chenevix-Tren. 2022. JAMA oncology. 8: A1 Journal article (refereed), original research -
Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study
Dixon-Suen, Suzanne C; Lewis, Sarah J; Martin, Richard M; English, Dallas R; Boyle, Terry; Giles, Graham G; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Lush, Michael; Ahearn, Thomas U; Ambrosone, Christine B; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Auvinen, Päivi; Beane Freeman, Laura E; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Bona. 2022. British journal of sports medicine. 56: 1157-1170 A1 Journal article (refereed), original research -
Rare germline copy number variants (CNVs) and breast cancer risk
Dennis, Joe; Tyrer, Jonathan P.; Walker, Logan C.; Michailidou, Kyriaki; Dorling, Leila; Bolla, Manjeet K.; Wang, Qin; Ahearn, Thomas U.; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Aronson, Kristan J.; Freeman, Laura E. Beane; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bogdanova, Natalia V.; Bojesen, Stig E.; Brenner, Hermann; Castelao, Jose E.; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Clarke, Christine L.; Kristensen, . 2022. Communications biology. 5: . 65 A1 Journal article (refereed), original research -
A case-only study to identify genetic modifiers ofbreast cancer risk for BRCA1/BRCA2mutationcarriers
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. Nature communications. 12: 1078 A1 Journal article (refereed), original research -
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
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; Mannermaa, Arto]. 2021. Breast cancer research. 23: 86 A1 Journal article (refereed), original research -
Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium
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. Cancer epidemiology biomarkers and prevention. 30: 623-642 A1 Journal article (refereed), original research -
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women
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; Mannermaa, Arto]. 2021. The new england journal of medicine. 384: 428-439 A1 Journal article (refereed), original research -
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
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; Mannermaa, Arto]. 2021. British journal of cancer. 124: 842-854 A1 Journal article (refereed), original research -
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices
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. FinGen; Kosma, Veli-Matti; Mannermaa, Arto]. 2021. Nature communications. 12: 2182 A1 Journal article (refereed), original research -
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
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, Mannermaa, Arto]. 2021. American journal of human genetics. 108: 1190-1203 A1 Journal article (refereed), original research -
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?
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. Cancers. 13: 2370 A1 Journal article (refereed), original research -
Genetic insights into biological mechanisms governing human ovarian ageing
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. Nature. 596: 393-397 A1 Journal article (refereed), original research -
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
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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, Bernstein JL, James PA, Easton DF, Goldgar DE, Hopper JL, Rahman N, Peterlongo P, Nevanlinna H, King MC, Co. 2014. The new england journal of medicine. 371: 497-506 A1 Journal article (refereed), original research -
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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. Human molecular genetics. 23: 6096-6111 A1 Journal article (refereed), original research -
Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
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. Nature communications. 4: Article number:4999 A1 Journal article (refereed), original research -
FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium
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. British journal of cancer. 110: 1088-1100 A1 Journal article (refereed), original research -
Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer
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. Clinical genetics. 88: 68-73 A2 Review article, Literature review, Systematic review -
Genetic predisposition to in situ and invasive lobular carcinoma of the breast
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, Hartikainen Jaana M,). 2014. PLoS genetics. 10: e1004285 A1 Journal article (refereed), original research -
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study
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. Breast cancer research and treatment. 16: R51 A1 Journal article (refereed), original research -
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade
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. Human molecular genetics. 23: 6034-6046 A1 Journal article (refereed), original research -
Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple negative breast cancer
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, Mannermaa Arto). 2014. Carcinogenesis. 35: 1012-1019 A1 Journal article (refereed), original research -
Hyaluronan synthases (HAS1-3) in stromal and malignant cells correlate with breast cancer grade and predict patient survival
Auvinen Päivi, Rilla Kirsi, Tumelius Ritva, Tammi Markku, Sironen Reijo, Soini Ylermi, Kosma Veli-Matti, Mannermaa Arto, Viikari Jukka, Tammi Raija. 2014. Breast cancer research and treatment. 143: 277-286 A1 Journal article (refereed), original research -
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
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. Human molecular genetics. 2014: 1-14 A1 Journal article (refereed), original research -
Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions
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. Genetic epidemiology. 38: 84-93 A1 Journal article (refereed), original research -
Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors
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. International journal of cancer. 136: E685-E696 A1 Journal article (refereed), original research -
MicroRNA Related Polymorphisms and Breast Cancer Risk
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. PLoS ONE. 9: e109973 (1-12) A1 Journal article (refereed), original research -
MnSOD rs4880 and XPD rs13181 polymorphisms predict the survival of breast cancer patients treated with adjuvant tamoxifen
Tengström Maria, Mannermaa Arto, Kosma Veli-Matti, Soini Ylermi, Hirvonen Ari, Kataja Vesa. 2014. Acta oncologica. 53: 769-775 A1 Journal article (refereed), original research -
Overexpression of MicroRNA-200c Predicts Poor Outcome in Patients with PR-Negative Breast Cancer
Tuomarila M, Luostari K, Soini Y, Kataja V, Kosma VM, Mannermaa A. 2014. PLoS ONE. 9: e109508: 1-8 A1 Journal article (refereed), original research -
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
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. Nature. 514: 92-97 A1 Journal article (refereed), original research -
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
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. Breast cancer research. 16: 3419 A1 Journal article (refereed), original research -
Type II Transmembrane Serine Protease Gene Variants Associate with Breast Cancer
Luostari Kaisa, Hartikainen Jaana M, Tengström Maria, Palvimo Jorma J, Kataja Vesa, Mannermaa Arto, Kosma Veli-Matti. 2014. PLoS ONE. 9: e102519 A1 Journal article (refereed), original research -
XRCC1 rs25487 polymorphism predicts the survival of patients after postoperative radiotherapy and adjuvant chemotherapy for breast cancer
Tengström Maria, Mannermaa Arto, Kosma Veli-Matti, Hirvonen Ari, Kataja Vesa. 2014. Anticancer research. 34: 3031-3037 A1 Journal article (refereed), original research -
γ -Secretase Components as Predictors of Breast Cancer Outcome
Peltonen HM, Haapasalo A, Hiltunen M, Kataja V, Kosma VM, Mannermaa A. 2013. PLoS ONE. 8: e79249, 1-13 A1 Journal article (refereed), original research -
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
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. Breast cancer research and treatment. 138: 529-42 A1 Journal article (refereed), original research -
Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors.
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, Bernstein L, Clarke CA, Brenner H, Müller H, Arndt V, Stegmaier C, Brauch H, Brüning T, Harth V; G. 2013. PLoS genetics. 9: e1003284 A1 Journal article (refereed), original research -
Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1
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. American journal of human genetics. 93: 1046-1060 A1 Journal article (refereed), original research -
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers
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. American journal of human genetics. 92: 489-503 A1 Journal article (refereed), original research -
Genome-wide association studies identify four ER negative-specific breast cancer risk loci
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. Nature genetics. 45: 392-8 A1 Journal article (refereed), original research -
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk
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 Network, Hansen Tv, Neuhausen SL, Blanco I, Greene MH, Garber J, Weitzel JN, Andrulis IL, Goldgar DE, D'A. 2013. PLoS genetics. 9: e1003173 A1 Journal article (refereed), original research -
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
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. Nature genetics. 45: 353-61 A1 Journal article (refereed), original research -
Matriptase-2 gene (TMPRSS6) variants associate with breast cancer survival, and reduced expression is related to triple-negative breast cancer
Tuhkanen H, Hartikainen JM, Soini Y, Velasco G, Sironen R, Nykopp TK, Kataja V, Eskelinen M, Kosma VM, Mannermaa A.. 2013. International journal of cancer. 133: 2334-2340 A1 Journal article (refereed), original research -
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
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. Nature genetics. 45: 371-84 A1 Journal article (refereed), original research -
The UGT1A6_19_GG genotype is a breast cancer risk factor
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. Frontiers in genetics. 4: 1-6 A1 Journal article (refereed), original research -
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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. Human mutation. 33: 1123-1132 A1 Journal article (refereed), original research -
19p13.1 Is a Triple-Negative-Specific Breast Cancer Susceptibility Locus
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. Cancer research. 72: 1795-1803 A1 Journal article (refereed), original research -
9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium
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. Cancer epidemiology biomarkers and prevention. 21: 1783-1791 A1 Journal article (refereed), original research -
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
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. PLoS ONE. 7: e35706 A1 Journal article (refereed), original research -
Breast cancer-associated Abraxas mutation disrupts nuclear localization and DNA damage response functions
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. Science translational medicine. 4: 122-123 A1 Journal article (refereed), original research -
CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer
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. Journal of clinical oncology. 30: 4308-16 A1 Journal article (refereed), original research -
Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)
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. PLoS ONE. 7: - A1 Journal article (refereed), original research -
Genetic Polymorphisms and Protein Expression of NRF2 and Sulfiredoxin Predict Survival Outcomes in Breast Cancer
Hartikainen JM,Tengström M, Kosma VM, Kinnula VL, Mannermaa A, Soini Y.. 2012. Cancer research. 72: 5537-5546 A1 Journal article (refereed), original research -
Genome-wide association analysis identifies three new breast cancer susceptibility loci
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. Nature genetics. 44: 312-318 A1 Journal article (refereed), original research -
Histone demethylase GASC1 - a potential prognostic and predictive marker in invasive breast cancer.
Berdel B, Nieminen K, Soini Y, Tengström M, Malinen M, Kosma VM, Palvimo J, Mannermaa A. 2012. Bmc cancer. 12: e1-15 A1 Journal article (refereed), original research -
Increased hyaluronan content and stromal cell CD44 associate with HER2 positivity and poor prognosis in human breast cancer
Auvinen P, Tammi R, Kosma VM, Sironen R, Soini Y, Mannermaa A, Tumelius R, Uljas E, Tammi M. 2012. International journal of cancer. 132: 531-539 A1 Journal article (refereed), original research -
PREDICT Plus: Development and validation of a prognostic model for early breast cancer that includes HER2
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. British journal of cancer. 107: 800-807 A1 Journal article (refereed), original research -
Proto-oncogene PIM-1 is a novel estrogen receptor target associating with high grade breast tumors
Malinen M, Jääskeläinen T, Pelkonen M, Heikkinen S, Väisänen S, Kosma VM, Nieminen K, Mannermaa A, Palvimo JJ. 2012. Molecular and cellular endocrinology. 2013; 365: 270-276 A1 Journal article (refereed), original research -
SULT1A1 rs9282861 polymorphism-a potential modifier of efficacy of the systemic adjuvant therapy in breast cancer?
Tengström M, Mannermaa A, Kosma V-M, Hirvonen A, Kataja V. 2012. Bmc cancer. 12: 257 B1 Non-refereed journal articles -
The role of genetic breast cancer susceptibility variants as prognostic factors
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. Human molecular genetics. 21: 3926-3939 A1 Journal article (refereed), original research -
7q21-rs6964587 and breast cancer risk: an extended case¿control study by the Breast Cancer Association Consortium
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. Journal of medical genetics. 48: 698-702 A1 Journal article (refereed), original research -
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer
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, Edlund CK, Ekici AB, Fasching PA, Feigelson HS, Flesch-Janys D, Fostira F, Försti A, Fountzilas G, Ger. 2011. Nature genetics. 43: 1210-1214 A1 Journal article (refereed), original research -
Associations of Breast Cancer Risk Factors With Tumor Subtypes: A Pooled Analysis From the Breast Cancer Association Consortium Studies
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. Journal of the national cancer institute. 103: 250-263 A1 Journal article (refereed), original research -
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.
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, Zamora MP, Brenner H, Müller H, Arndt V, Rahman N, Turnbull C, Seal S, Renwick A, Brauch H, Justenhov. 2011. Human molecular genetics. 20: 4693-4706 A1 Journal article (refereed), original research -
Common breast cancer susceptibility loci are associated with triple-negative breast cancer.
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, Pectasides D, Dimopoulos AM, Fountzilas G, Clarke CL, Balleine R, Olson JE, Fredericksen Z, Diasio RB, Patha. 2011. Cancer research. 71: 6240-6249 A1 Journal article (refereed), original research -
Confirmation of 5p12 As a Susceptibility Locus for Progesterone-Receptor-Positive, Lower Grade Breast Cancer.
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, Southey MC, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Sangrajrang S, Gaborieau V, Brennan P, McKay. 2011. Cancer epidemiology biomarkers and prevention. 20: 2222-2231 A1 Journal article (refereed), original research -
Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk.
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, Burwinkel B, Meindl A, Schmutzler RK, Bartrar CR, Hamann U, Ko YD, Brüning T, Chang-Claude J, Hein R, Wan. 2011. British journal of cancer. 105: 1934-9 A1 Journal article (refereed), original research -
Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.
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. Breast cancer research and treatment. 130: 1003-10 A1 Journal article (refereed), original research -
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium
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. Human molecular genetics. 20: 3289-3303 A1 Journal article (refereed), original research -
Transcription factors zeb1, twist and snai1 in breast carcinoma
Soini Ylermi, Tuhkanen Hanna, Sironen Reijo, Virtanen Ismo, Kataja Vesa, Auvinen Päivi, Mannermaa Arto, Kosma Veli-Matti. 2011. Bmc cancer. 11: - A1 Journal article (refereed), original research -
Transcription of factor snail1 expression and poor survival in pharyngeal squamous cell carcinoma
Jouppila-Mättö A, Tuhkanen H, Soini Y, Pukkila M, Närkiö-Mäkelä M, Sironen R, Virtanen I, Mannermaa A, Kosma V-M. 2011. Histology and histopathology. 26: 443-449 A1 Journal article (refereed), original research -
Twist and snai1 expression in pharyngeal squamous cell carcinoma stroma is related to cancer progression
Juoppila-Mättö Anna, Närkiö-Mäkelä Mervi, Soini Ylermi, Pukkila Matti, Sironen Reijo, Tuhkanen Hanna, Mannermaa Arto, Kosma Veli-Matti. 2011. Bmc cancer. 11: 350 A1 Journal article (refereed), original research -
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
Milne RL, Gaudet MM, Spurdle AB, Fasching PA, Couch FJ & et al. 2010. Breast cancer research. 12: 110 A1 Journal article (refereed), original research -
Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival
Azzato EM, Tyrer J, Fasching PA, Beckmann MW, Ekici AB, Schulz-Wendtland R, Bojesen SE, Nordestgaard BG, Flyger H, Milne RL, et.al.. 2010. Journal of the national cancer institute. 102: 650-662 A1 Journal article (refereed), original research -
Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls
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. Cancer epidemiology biomarkers and prevention. 19: 2143-2151 A1 Journal article (refereed), original research -
ST14 gene variant and decreased matriptase protein expression predict poor breast cancer survival
Kauppinen J, Kosma V-M, Soini Y, Sironen R, Nissinen M, Nykopp T, Kärjä V, Eskelinen M, Kataja V, Mannermaa A. 2010. Cancer epidemiology biomarkers and prevention. 19: 2133-2142 A1 Journal article (refereed), original research -
Association of ESR1 gene tagging SNPs with breast cancer risk
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. Human molecular genetics. 18: 1131-1139 A1 Journal article (refereed), original research -
Beta-amyloid deposition in brains of subjects with diabetes
Alafuzoff I, Aho L, Helisalmi S, Mannermaa A, Soininen H, Soininen H. 2009. Neuropathology and applied neurobiology. 1: 60-68 A1 Journal article (refereed), original research -
Combined risk effects of IDE and NEP gene variants on Alzheimer disease
Vepsäläinen S, Helisalmi S, Mannermaa A, Pirttilä T, Soininen H, Hiltunen M, Helisalmi S, Pirttilä T, Soininen H, Hiltunen M. 2009. Journal of neurology neurosurgery and psychiatry. 80: 1268-1270 A1 Journal article (refereed), original research -
Five polymorphisms and breast cancer risk: results from the breast cancer association consortium
Gaudet MM, Milne RL, Cox A, Camp NJ, Goode EL..., Mannermaa A, Kataja V, Kosma V-M, Lindblom SM...et al. 2009. Cancer epidemiology biomarkers and prevention. 18: 1610-1616 A1 Journal article (refereed), original research -
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2
Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, Platte R, Mannermaa A, Kosma V-M, Kataja V, ...Easton DF. 2009. Nature genetics -
Nuclear expression of Snail1 in borderline and malignant epithelial ovarian tumours is associated with tumour progression
Tuhkanen H, Soini Y, Kosma V-M, Anttila M, Sironen R, Hämäläinen K, Kukkonen L, Virtanen I, Mannermaa A. 2009. Bmc cancer. 9: A1 Journal article (refereed), original research -
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042
Milne RL, Benítez J, Nevanlinna H, Heikkinen T..., Mannermaa A, Kataja V, Kosma V-M. 2009. Journal of the national cancer institute. 101: 1012-1018 A1 Journal article (refereed), original research -
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
Garcia-Closas M, Hall P, Nevanlinna H ..., Mannermaa A, Uusitupa M, Eskelinen M, Tengström M, Kosma V-M, Kataja V, Chenevix-Trench G .... 2008. PLoS genetics. 4: [e1000054] A1 Journal article (refereed), original research -
NAD(P)H:quinone oxidoreductase 1 NQ01*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer
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. Nature genetics. 40: 844-853 A1 Journal article (refereed), original research -
Penetrance analysis of the PALB2 c.1592delT founder mutation
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. Clinical cancer research. 14: 4667-4671 A1 Journal article (refereed), original research -
A BRCA2 mutation, 4088insA, in a Finnish breast and ovarian cancer family associated with favourable clinical course
Hartikainen JM, Mannermaa A, Heinonen S, Kosma V-M, Kataja V. 2007. Anticancer research. 27: 4295-4300 A1 Journal article (refereed), original research -
A common coding variant in CASP8 is associated with breast cancer risk
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. Nature genetics. 39: 352-358 A1 Journal article (refereed), original research -
A recurrent mutation in PALB2 in Finnish cancer families
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. Nature -
Genome-wide association study identifies novel breast cancer susceptibility loci
Easton DF, Pooley KA, Dunning AM..., Mannermaa A, Kosma V-M, Kataja V, Hartikainen J. 2007. Nature. 447: 1087-1093 A1 Journal article (refereed), original research -
Insulin-degrading enzyme is genetically associated wirh Alzheimer's disease in the finnish population
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. Journal of medical genetics. 44: 606-608 A1 Journal article (refereed), original research -
Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families
Hartikainen JM, Kataja V, Pirskanen M, Arffman A, Ristomaa U, Vahteristo P, Ryynänen M, Heinonen S, Kosma V-M, Mannermaa A. 2007. Clinical genetics. 72: 311-320 A1 Journal article (refereed), original research -
Association of CYP46 intron 2 polymorphism in Finnish Alzheimer¿s disease samples and a global scale summary
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. Journal of neurology neurosurgery and psychiatry. 77: 421-422 A1 Journal article (refereed), original research -
Commonly studied single-nucleotide polymorphism and breast cancer: results from the breast cancer association consortium
The Breast Cancer Association Consortium, Mannermaa A, Kataja V, Kosma V-M. 2006. Journal of the national cancer institute. 98: 1382-1396 A1 Journal article (refereed), original research -
Frequent gene dosage alterations in stromal cells of epithelial ovarian carcinomas
Tuhkanen H, Anttila M, Kosma V-M, Heinonen S, Juhola M, Helisalmi S, Kataja V, Mannermaa A, Helisalmi S. 2006. International journal of cancer. 119: 1345-1353 A1 Journal article (refereed), original research -
Refinement of the 22q12-q13 Breast Cancer-Associated Region:Evidence of TMPRSS6 as a Candidate in an Eastern Finnish Population
Hartikainen JM, Tuhkanen H, Kataja V, Eskelinen M, Uusitupa M, Kosma V-M, Mannermaa A. 2006. Clinical cancer research. 12: 1454-1462 A1 Journal article (refereed), original research -
An autosome-wide scan for linkage disequilibrium-based association in sporadic breast cancer cases in Eastern Finland: three candidate regions found
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. Cancer epidemiology biomarkers and prevention. 14: 75-80 A1 Journal article (refereed), original research -
Estrogen receptor beta gene variants are associated with increased risk of Alzheimer¿s disease in women
Pirskanen M, Hiltunen M, Mannermaa A, Helisalmi S, Lehtovirta M, Hänninen T, Soininen H, Hiltunen M, Helisalmi S, Soininen H. 2005. European journal of human genetics. 13: 1000-1006 A1 Journal article (refereed), original research -
Genetic analysis on BDNF and TrkB gene polymorphisms in Alzheimer's disease
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. Journal of neurology. 252: 423-428 A1 Journal article (refereed), original research -
CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies
The CHEK2 Breast Cancer Case-Control Consortium, Kataja V. 2004. American journal of human genetics. 74: 1175-1182 A1 Journal article (refereed), original research -
A transforming growth factorbeta1 signal peptide variant increases secretion in vitro and is associated with increased incidence of invasive breast cancer
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. Cancer research. 63: 2610-2615 A1 Journal article (refereed), original research -
Apolipoprotein E epsilon4 allele, elevated midlife total cholesterol level, and high midlife systolic blood pressure are independent risk factors for late-life Alzheimer disease
Kivipelto M, Helkala E-L, Laakso MP, Hänninen T, Hallikainen M, Alhainen K, Iivonen S, Mannermaa A, Tuomilehto J, Nissinen A, Soininen H. 2002. Annals of internal medicine. 137: 149-155 A1 Journal article (refereed), original research -
Fibrinogen and factor VII promoter polymorphism in women with preeclampsia
Laasanen J, Hiltunen M, Punnonen K, Mannermaa A, Heinonen S. 2002. Obstetrics and gynecology. 100: 317-20 A1 Journal article (refereed), original research -
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
Pirskanen M, Hiltunen M, Mannermaa A, Iivonen S, Helisalmi S, Lehtovirta M, Koivisto AM, Laakso M, Soininen H, Alafuzoff I. 2002. Dementia and geriatric cognitive disorders. 14: 123-127 A1 Journal article (refereed), original research -
Lack of association between C-850T polymorphism of the gene encoding tumor necrosis factor-alfa and polycystic ovary syndrome
Korhonen S, Romppanen E-L, Hiltunen M, Mannermaa A, Punnonen K, Hippeläinen M, Heinonen S. 2002. Gynecological endocrinology. 16: 271-274 A1 Journal article (refereed), original research -
Midlife income, occupation, APOE status, and dementia
Anttila T, Helkala E-L, Kivipelto M, Hallikainen M, Alhainen K, Heinonen H, Mannermaa A, Tuomilehto J, Soininen H, Nissinen A. 2002. Neurology. 59: 887-893 A1 Journal article (refereed), original research -
Molecular genetic analysis of the alpha-synuclein and the parkin gene in Parkinson¿s disease in Finland
Autere JM, Hiltunen MJ, Mannermaa A, Jäkälä PA, Hartikainen PH, Majamaa K, Alafuzoff I, Soininen HS. 2002. European journal of neurology. 9: 479-483 A1 Journal article (refereed), original research -
Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alfa gene polymorphisms in Finnish women with obstetric cholestasis
Eloranta M-L, Heiskanen JTM, Hiltunen MJ, Mannermaa AJ, Punnonen KRA, Heinonen ST. 2002. European journal of obstetrics and gynecology and reproductive biology. 104: 109-112 A1 Journal article (refereed), original research -
Polymorphism in the peroxisome proliferator-activated receptor-gamma gene in women with preeclampsia
Laasanen J, Heinonen S, Hiltunen M, Mannermaa A, Laakso M. 2002. Early human development. 69: 77-82 A1 Journal article (refereed), original research -
Polymorphism in the tumor necrosis factor-alpha gene in women with preeclampsia
Heiskanen J, Romppanen E-L, Hiltunen M, Iivonen S, Mannermaa A, Punnonen K, Heinonen S. 2002. Journal of assisted reproduction and genetics. 19: 220-223 A1 Journal article (refereed), original research -
Seladin-1 transcription is linked to neuronal degeneration in Alzheimer¿s disease
Iivonen S, Hiltunen M, Alafuzoff I, Mannermaa A, Kerokoski P, Puoliväli J, Salminen A, Helisalmi S, Soininen H. 2002. Neuroscience. 113: 301-310 A1 Journal article (refereed), original research -
Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia
Laasanen J, Romppanen E-L, Hiltunen M, Helisalmi S, Mannermaa A, Punnonen K, Heinonen S. 2002. European journal of human genetics. 10: 569-573 A1 Journal article (refereed), original research -
An association between a subset of Finnish late-onset Alzheimer¿s disease and alpha2-macroglobulin
Pirskanen M, Alafuzoff I, Hiltunen M, Mannermaa A, Helisalmi S, Lehtovirta M, Koivisto AM, Laakso M, Soininen H. 2001. Neurogenetics -
Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland
Kallinen J, Heinonen S, Palotie A, Mannermaa A, Ryynanen M. 2001. Prenatal diagnosis. 21: 409-412 A1 Journal article (refereed), original research -
Antenatal genetic screening for congenital nephrosis
Kallinen J, Heinonen S, Ryynänen M, Pulkkinen L, Mannermaa A. 2001. Prenatal diagnosis. 21: 81-84 A1 Journal article (refereed), original research -
Apolipoprotein E alleles in women with polycystic ovary syndrome
Heinonen S, Korhonen S, Hippeläinen M, Hiltunen M, Mannermaa A, Saarikoski S. 2001. Fertility and sterility. 75: 878-880 A1 Journal article (refereed), original research -
Apolipoprotein E alleles in women with pre-eclampsia
Makkonen N, Heinonen S, Hiltunen M, Helisalmi S, Mannermaa A, Kirkinen P. 2001. Journal of clinical pathology. 54: 652-654 A1 Journal article (refereed), original research -
Genome-wide linkage disequilibrium mapping of late-onset Alzheimr¿s disease in Finland
Hiltunen M, Mannermaa A, Thompson D, Easton D, Pirskanen M, Helisalmi S, Koivisto AM, Lehtovirta M, Ryynänen M, Soininen H. 2001. Neurology. 57: 1663-1668 A1 Journal article (refereed), original research -
Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNA
Finnilä S, Autere J, Lehtovirta M, Hartikainen P, Mannermaa A, Soininen H, Majamaa K. 2001. Journal of medical genetics -
Insertion-deletion polymorphism in the gene for angiotensin-converting enzyme is associated with obstetric cholestasis but not with preeclampsia
Heiskanen JT, Pirskanen MM, Hiltunen MJ, Mannermaa AJ, Punnonen KR, Heinonen ST. 2001. American journal of obstetrics and gynecology. 185: 600-603 A1 Journal article (refereed), original research -
Maternal susceptibility locus for obstetric cholestasis maps to chromosone region 2p13 in finnish patients
Heinonen S, Eloranta M-L, Heiskanen J, Punnonen K, Helisalmi S, Mannermaa A, Hiltunen M. 2001. Scandinavian journal of gastroenterology. 36: 766-770 A1 Journal article (refereed), original research -
Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: integration of gene tests and fetal karyotyping
Kallinen J, Marin K, Heinonen S, Mannermaa A, Palotie A, Ryynänen M. 2001. BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY. 108: 505-509 A1 Journal article (refereed), original research -
Apolipoprotein E alleles in women with intrahepatic cholestasis of pregnancy
Eloranta M-L, Heiskanen J, Hiltunen M, Helisalmi S, Mannermaa A, Heinonen S. 2000. Scandinavian journal of gastroenterology. 35: 966-968 A1 Journal article (refereed), original research -
Failure in post-transcriptional processing is a possible inactivation mechanism of AP-2 alfa in cutaneous melanoma
Karjalainen JM, Kellokoski JK, Mannermaa AJ, Kujala HE, Moisio KI, Mitchell PJ, Eskelinen MJ, Alhava EM, Kosma VM. 2000. British journal of cancer. 82: 2015-2021 A1 Journal article (refereed), original research -
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?
Hiltunen M, Helisalmi S, Mannermaa A, Alafuzoff I, Koivisto AM, Lehtovirta M, Pirskanen M, Sulkava R, Verkkoniemi A, Soininen H. 2000. European journal of human genetics. 8: 259-266 A1 Journal article (refereed), original research -
Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer¿s disease?
Helisalmi S, Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Alafuzoff I, Ryynänen M, Soininen H. 2000. Neuroscience letters. 278: 65-68 A1 Journal article (refereed), original research -
Loss of heterozygosity at chromosomes 3, 6, 8, 11, 16, and 17 in ovarian cancer: correlation to clinicopathological variables
Launonen V, Mannermaa A, Stenbäck F, Kosma V-M, Puistola U, Huusko P, Anttila M, Bloigu R, Saarikoski S, Kauppila A, Winqvist R. 2000. Cancer genetics and cytogenetics. 122: 49-54 A1 Journal article (refereed), original research -
Prenatal diagnosis of fragile X syndrome and the risk of expansion of a premutation
Kallinen J, Heinonen S, Mannermaa A, Ryynänen M. 2000. Clinical genetics. 58: 111-115 A1 Journal article (refereed), original research -
Severity of cardiovascular disease, apolipoprotein E genotype, and brain pathology in aging and dementia
Alafuzoff I, Helisalmi S, Mannermaa A, Soininen H. 2000. Annals of the New York Academy of Sciences. 903: 244-251 A1 Journal article (refereed), original research -
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
Helisalmi S, Valve R, Karvonen MK, Hiltunen M, Pirskanen M, Mannermaa A, Koulu M, Pesonen U, Uusitupa M, Soininen H. 2000. Neuroscience letters. 287: 25-28 A1 Journal article (refereed), original research -
Beta-amyloid load is not influenced by the severity of cardiovascular disease in aged and demented patients
Alafuzoff I, Helisalmi S, Mannermaa A, Riekkinen P Sr, Soininen H. 1999. Stroke. 30: 613-618 A1 Journal article (refereed), original research -
Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies
Ryynänen M, Heinonen S, Makkonen M, Kajanoja E, Mannermaa A, Kirkinen P. 1999. European journal of human genetics. 7: 212-216 A1 Journal article (refereed), original research -
Linkage disequilibrium in the 13q12 region in Finnish late onset Alzheimer`s disease patients
Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Helisalmi S, Ryynänen M, Riekkinen P Sr, Soininen H. 1999. European journal of human genetics. 7: 652-658 A1 Journal article (refereed), original research -
Promoter polymorphism (-491A/T) in the APOE gene of Finnish Alzheimer¿s disease patients and control individuals
Helisalmi S, Hiltunen M, Valonen P, Mannermaa A, Koivisto AM, Lehtovirta M, Ryynänen M, Soininen H. 1999. Journal of neurology. 246: 821-824 A1 Journal article (refereed), original research -
Butyrylcholinesterase K variant and apolipoprotein E4 genes do not act in synergy in Finnish late-onset Alzheimer¿s disease patients
Hiltunen M, Mannermaa A, Helisalmi S, Koivisto A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1998. Neuroscience letters. 250: 69-71 A1 Journal article (refereed), original research -
Fragiili X-oireyhtymän mutaatioiden seulonta alkuraskauden aikana - tulokset ja äitien mielipiteet geenitestistä
Ryynänen M, Heinonen S, Makkonen M, Mannermaa A, Kirkinen P. 1998. Duodecim. 114: 2323-2329 A1 Journal article (refereed), original research -
Longitudinal SPECT study in Alzheimer`s disease: relation to apolipoprotein E polymorphism
Lehtovirta M, Kuikka J, Helisalmi S, Hartikainen P, Mannermaa A, Ryynänen M, Riekkinen P Sr, Soininen H. 1998. Journal of neurology neurosurgery and psychiatry. 64: 742-746 A1 Journal article (refereed), original research -
Fragile-X: Neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes
Jäkälä P, Hänninen T, Ryynänen M, Laakso M, Partanen K, Mannermaa A, Soininen H. 1997. Journal of clinical investigation. 100: 331-338 A1 Journal article (refereed), original research -
Lack of association between presenilin-1 polymorphism, Alzheimer's disease and apolipoprotein E
Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1997. ALZHEIMER'S RESEARCH. 3: 159-161 A1 Journal article (refereed), original research -
No association between alfa1-antichymotrypsin polymorphism, apolipoprotein E and patients with late-onset Alzheimer`s disease
Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1997. Neuroscience letters. 231: 56-58 A1 Journal article (refereed), original research -
Apolipoprotein E polymorphism in patients with different neurodegenerative disorders
Helisalmi S, Linnaranta K, Lehtovirta M, Mannermaa A, Heinonen O, Ryynänen M, Riekkinen P Sr, Soininen H. 1996. Neuroscience letters. 205: 61-64 A1 Journal article (refereed), original research -
Clinical and neuropsychological characteristics in familial and sporadic Alzheimer's disease: relation to apolipoprotein E polymorphism
Lehtovirta M, Soininen H, Helisalmi S, Mannermaa A, Helkala E-L, Hartikainen P, Hänninen T, Ryynänen M, Riekkinen PJ Sr. 1996. Neurology. 46: 413-419 A1 Journal article (refereed), original research -
Deletion in the FMR1 gene in a fragile-x male
Mannermaa A, Pulkkinen L, Kajanoja E, Ryynänen M, Saarikoski S. 1996. American journal of medical genetics. Part A. 64: 293-295 A1 Journal article (refereed), original research -
SPECT and MRI analysis in Alzheimer's disease: relation to apolipoprotein E epsilon4 allele
Lehtovirta M, Soininen H, Laakso MP, Partanen K, Helisalmi S, Mannermaa A, Ryynänen M, Kuikka J, Hartikainen P, Riekkinen PJ Sr. 1996. Journal of neurology neurosurgery and psychiatry. 60: 644-649 A1 Journal article (refereed), original research -
Screening for amyloid beta precursor protein codon 665, 670/671 and 717 mutations in Finnish patients with Alzheimer's disease
Helisalmi S, Mannermaa A, Lehtovirta M, Ryynänen M, Riekkinen P Sr, Soininen H. 1996. Neuroscience letters. 205: 68-70 A1 Journal article (refereed), original research -
Spectral analysis of EEG in Alzheimer's disease: relation to apolipoprotein E polymorphism
Lehtovirta M, Partanen J, Könönen M, Soininen H, Helisalmi S, Mannermaa A, Ryynänen M, Hartikainen P, Riekkinen P Sr. 1996. Neurobiology of aging. 17: 523-526 A1 Journal article (refereed), original research -
A severe loss of choline acetyltransferase in the frontal cortex of Alzheimer patients carrying apolipoprotein e4 allele
Soininen H, Kosunen O, Helisalmi S, Mannermaa A, Paljärvi L, Talasniemi S, Ryynänen M, Riekkinen P Sr. 1995. Neuroscience letters. 187: 79-82 A1 Journal article (refereed), original research -
Alzheimer pathology of patients carrying apolipoprotein E epsilon4 allele
Heinonen O, Lehtovirta M, Soininen H, Helisalmi S, Mannermaa A, Sorvari H, Kosunen O, Paljärvi L, Ryynänen M, Riekkinen PJ Sr. 1995. Neurobiology of aging. 16: 505-513 A1 Journal article (refereed), original research -
Apolipoprotein E polymorphism and Alzheimer's disease in Eastern Finland
Lehtovirta M, Helisalmi S, Mannermaa A, Soininen H, Koivisto K, Ryynänen M, Riekkinen P Sr. 1995. Neuroscience letters. 185: 13-15 A1 Journal article (refereed), original research -
Carrier diagnosis of the fragile X syndrome-A challenge in antenatal clinics
Ryynänen M, Kirkinen P, Mannermaa A, Saarikoski S. 1995. American journal of obstetrics and gynecology. 172: 1236-1239 A1 Journal article (refereed), original research -
Decreased hippocampal volume asymmetry on MRIs in nondemented elderly subjects carrying the apolipoprotein E epsilon 4 allele
Soininen H, Partanen K, Pitkänen A, Hallikainen M, Hänninen T, Helisalmi S, Mannermaa A, Ryynänen M, Koivisto K, Riekkinen P Sr. 1995. Neurology. 45: 391-392 A1 Journal article (refereed), original research -
Relation of coronary atherosclerosis and apolipoprotein E genotypes in Alzheimer patients
Kosunen O, Talasniemi S, Lehtovirta M, Heinonen O, Helisalmi S, Mannermaa A, Paljärvi L, Ryynänen M, Riekkinen PJ Sr, Soininen H. 1995. Stroke. 26: 743-748 A1 Journal article (refereed), original research -
Volumes of hippocampus, amygdala and frontal lobe in Alzheimer patients with different apolipoprotein E genotypes
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. Neuroscience. 67: 65-72 A1 Journal article (refereed), original research