Research output per year
Research output per year
Personal profile
Fields of Science
- 3111 Biomedicine
International and National Collaboration
Publications and projects within past five years.
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Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations
Kandolin, M., Pöyhönen, M. & Jakkula, E., Jul 2024, In: American Journal of Medical Genetics, Part A. 194, 7, 11 p., e63588.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Craniofacial and dental features of Axenfeld-Rieger syndrome patients with PITX2 mutations
Arte, S., Pöyhönen, M., Myllymäki, E., Ronkainen, E., Rice, D. P. & Nieminen, P., Aug 2023, In: Orthodontics & craniofacial research.. 26, 3, p. 320-330 11 p.Research output: Contribution to journal › Review Article › peer-review
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Suuren riskin rintasyöpäalttiuden seuranta on geenikohtaista
Aittomäki, K., Aaltonen, K., Kuismin, O., Kurra, V., Mäkinen, M., Pöyhönen, M., Rajala, K., Toiminen, H., Haanpää, M. K. & Kankuri-Tammilehto, M., 2023, In: Suomen lääkärilehti. 78, 13-14, p. 543-546 4 p.Research output: Contribution to journal › Review Article › peer-review
Open AccessFile -
TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients
Foddis, M., Blumenau, S., Holtgrewe, M., Paquette, K., Westra, K., Alonso, I., Macario, M. D. C., Morgadinho, A. S., Velon, A. G., Santo, G., Santana, I., Monkare, S., Kuuluvainen, L., Schleutker, J., Pöyhönen, M., Myllykangas, L., Pavlovic, A., Kostic, V., Dobricic, V. & Lohmann, E. & 9 others, , Mar 2023, In: Neurobiology of Aging. 123, p. 208-215 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
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Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity
Kansikas, M., Vähätalo, L., Kantelinen, J., Kasela, M., Putula, J., Døhlen, A., Paloviita, P., Kärkkäinen, E., Lahti, N., Arnez, P., Kilpinen, S., Alcala-Repo, B., Pylvänäinen, K., Pöyhönen, M., Peltomäki, P., Järvinen, H. J., Seppälä, T. T., Renkonen-Sinisalo, L., Lepistö, A. & Mecklin, J.-P. & 1 others, , Mar 2023, In: Cancer research communications. 3, 3, p. 361-370 10 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile
Projects
- 2 Finished
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CADASIL-tauti suomessa
Pöyhönen, M. (Participant), Kalimo, H. (Participant), Baumann, M. (Participant), Tikka, S. M. S. (Participant), Ng, Y. P. (Participant), Junna, M. (Participant), Nyman, M. (Participant) & Viitanen, M. (Participant)
01/08/2010 → 31/12/2019
Project: Research project
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Neurofibromatoosi Suomessa
Peltonen, S. (Participant), Peltonen, J. (Participant) & Pöyhönen, M. (Participant)
01/09/2009 → 31/12/2019
Project: Research project
Activities
- 1 Public Talks
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Kansallinen Syöpäviikko: Keski-Suomen Syöpäyhdistys Jyväskylä yleisöluentoja 2 kpl
Pöyhönen, M. (Speaker: Presenter)
11 Oct 2006Activity: Participating in or organising an event types › Public Talks