Research output per year
Research output per year
Personal profile
Fields of Science
- 3111 Biomedicine
Supervisor for doctoral programme
- Doctoral Programme in Clinical Research
- Doctoral Programme in Biomedicine
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
Pathogenic SGMS2 variants are not a common cause of early-onset osteoporosis among Finnish patients
Loid, P., Richardt, S., Niinimäki, T., Pekkinen, M., Mäkitie, O. & Mäkitie, R., 25 Feb 2026, In: Frontiers in Endocrinology. 17, 6 p., 1719375.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family
Koponen, L., Pekkinen, M., Legebeke, J., Muurinen, M., Rusanen, S., Hussain, S., Wang, F., Nevalainen, P. & Mäkitie, O., 27 Jan 2025, In: JBMR plus. 9, 2, 9 p., ziae169.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure
Koponen, L., Salonen, P., Rusanen, S., Mäyränpää, M. K., Pekkinen, M. & Mäkitie, O., Dec 2025, In: Hormone research in paediatrics. 98, 6, p. 677-687 11 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2-related osteoporosis
Pihlström, S., Oghabian, A., Määttä, K., Legebeke, J., Mäkitie, R. E., Campeau, P. M., Terhal, P. A., Botto, L. D., Olkkonen, V. M., Mäkitie, O. & Pekkinen, M., Oct 2025, In: JBMR plus. 9, 10, 15 p., ziaf128.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Utilizing CRISPR-Cas13d-knockdown in zebrafish to study a rare monogenic bone fragility syndrome
Määttä, K., Chen, Y.-C., Pihlström, S., Mäkitie, R. E., Dambroise, E., Legeai-Mallet, L., Panula, P., Mäkitie, O. & Pekkinen, M., Nov 2025, In: JBMR plus. 9, 11, 17 p., ziaf153.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile
-
Early-onset osteoporosis
Mäkitie, O. (Project manager), Boman, N. (Participant), Muurinen, M. (Participant) & Pekkinen, M. (Participant)
Sigrid Juséliuksen Säätiö @003701165704@
01/05/2026 → 30/04/2027
Project: Foundations (Private Foundations, Non-Profit Foundations, Charitable Trusts)
-
PELI: Genetic determinants and clinical consequences of early-onset severe obesity
Viljakainen, H. (Project manager), Mäkitie, O. (Participant), Pekkinen, M. (Participant), Loid, P. (Participant), Taina, M. (Participant), Päivi, T. (Participant) & Lindstrand, A. (Participant)
01/09/2014 → 31/12/2018
Project: Research project
-
VIDI: Vitamin D intervention trial in infants
Viljakainen, H. (Participant), Andersson, S. (Project manager), Mäkitie, O. (Project manager), Helve, O. (Participant), Holmlund-Suila, E. M. (Participant), Hauta-alus, H. (Participant), Rosendahl, J. (Participant), Enlund-Cerullo, M. (Participant), Valkama, S. (Participant), Hytinantti, T. (Participant), Pekkinen, M. (Participant), Räikkönen, K. (Participant), Heinonen, K. (Participant) & Kajantie, E. (Participant)
01/01/2014 → 31/12/2019
Project: Research project