2020 |
Mäkitie RE, Kämpe A, Costantini A, Alm JJ, Magnusson P, Mäkitie O. Biomarkers in WNT1 and PLS3 osteoporosis: altered concentrations of DKK1 and FGF23. J Bone Miner Res. May 2020;35(5):901-912. |
5 |
2 |
2020 |
Mäkitie RE, Hackl M, Weigl M, Frischer A, Kämpe A, Costantini A, Grillari J, Mäkitie O. Unique, gender‐dependent serum microRNA profile in PLS3 gene‐related osteoporosis. J Bone Miner Res. October 2020;35(10):1962-1973. |
2 |
0 |
2020 |
Skarp S, Xia J, Zhang Q, Löija M, Costantini A, Ruddock LW, Mäkitie O, Wei G, Männikkö M. Exome sequencing reveals a phenotype modifying variant in ZNF528 in primary osteoporosis with a COL1A2 deletion. J Bone Miner Res. December 2020;35(12):2381-2392. |
0 |
0 |
2021 |
Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon Y, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier‐Daire V, Kim O, Forlino A, Cho T, Mäkitie O. Novel RPL13 variants and variable clinical expressivity in a human ribosomopathy with spondyloepimetaphyseal dysplasia. J Bone Miner Res. February 2021;36(2):283-297. |
0 |
0 |
2022 |
Costantini A, Mäkitie RE, Hartmann MA, Fratzl-Zelman N, Zillikens MC, Kornak U, Søe K, Mäkitie O. Early-onset osteoporosis: rare monogenic forms elucidate the complexity of disease pathogenesis beyond type I collagen. J Bone Miner Res. September 2022;37(9):1623-1641. |
1 |
0 |