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An atlas of genetic determinants of forearm fracture.
Nethander M, Movérare-Skrtic S, Kämpe A, Coward E, Reimann E, Grahnemo L, Borbély É, Helyes Z, Funck-Brentano T, Cohen-Solal M, Tuukkanen J, Koskela A, Wu J, Li L, Lu T, Gabrielsen ME; Estonian Biobank Research Team; Mägi R, Hoff M, Lerner UH, Henning P, Ullum H, Erikstrup C, Brunak S; DBDS Genomic Consortium; Langhammer A, Tuomi T, Oddsson A, Stefansson K, Pettersson-Kymmer U, Ostrowski SR, Pedersen OBV, Styrkarsdottir U, Mäkitie O, Hveem K, Richards JB, Ohlsson C. Nethander M, et al. Among authors: makitie o. Nat Genet. 2023 Nov;55(11):1820-1830. doi: 10.1038/s41588-023-01527-3. Epub 2023 Nov 2. Nat Genet. 2023. PMID: 37919453 Free PMC article.
New Genetic Forms of Childhood-Onset Primary Osteoporosis.
Kämpe AJ, Mäkitie RE, Mäkitie O. Kämpe AJ, et al. Among authors: makitie re, makitie o. Horm Res Paediatr. 2015;84(6):361-9. doi: 10.1159/000439566. Epub 2015 Oct 31. Horm Res Paediatr. 2015. PMID: 26517534 Free article. Review.
CRTAP variants in early-onset osteoporosis and recurrent fractures.
Costantini A, Vuorimies I, Mäkitie R, Mäyränpää MK, Becker J, Pekkinen M, Valta H, Netzer C, Kämpe A, Taylan F, Jiao H, Mäkitie O. Costantini A, et al. Among authors: makitie r, makitie o. Am J Med Genet A. 2017 Mar;173(3):806-808. doi: 10.1002/ajmg.a.38065. Epub 2016 Nov 30. Am J Med Genet A. 2017. PMID: 27901313 No abstract available.
A novel frameshift deletion in PLS3 causing severe primary osteoporosis.
Costantini A, Krallis PΝ, Kämpe A, Karavitakis EM, Taylan F, Mäkitie O, Doulgeraki A. Costantini A, et al. Among authors: makitie o. J Hum Genet. 2018 Aug;63(8):923-926. doi: 10.1038/s10038-018-0472-5. Epub 2018 Jun 8. J Hum Genet. 2018. PMID: 29884797
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
Pekkinen M, Terhal PA, Botto LD, Henning P, Mäkitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Mäkitie O. Pekkinen M, et al. Among authors: makitie re, makitie o. JCI Insight. 2019 Apr 4;4(7):e126180. doi: 10.1172/jci.insight.126180. eCollection 2019 Apr 4. JCI Insight. 2019. PMID: 30779713 Free PMC article.
New Insights Into Monogenic Causes of Osteoporosis.
Mäkitie RE, Costantini A, Kämpe A, Alm JJ, Mäkitie O. Mäkitie RE, et al. Among authors: makitie o. Front Endocrinol (Lausanne). 2019 Feb 25;10:70. doi: 10.3389/fendo.2019.00070. eCollection 2019. Front Endocrinol (Lausanne). 2019. PMID: 30858824 Free PMC article. Review.
389 results