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A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.
Formosa MM, Bergen DJM, Gregson CL, Maurizi A, Kämpe A, Garcia-Giralt N, Zhou W, Grinberg D, Ovejero Crespo D, Zillikens MC, Williams GR, Bassett JHD, Brandi ML, Sangiorgi L, Balcells S, Högler W, Van Hul W, Mäkitie O. Formosa MM, et al. Among authors: makitie o. Front Endocrinol (Lausanne). 2021 Aug 13;12:709711. doi: 10.3389/fendo.2021.709711. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34539568 Free PMC article. Review.
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.
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.
Kämpe AJ, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F, Lindstrand A, Paschalis EP, Gamsjaeger S, Raas-Rothschild A, Hövel M, Jiao H, Klaushofer K, Grasemann C, Mäkitie O. Kämpe AJ, et al. Among authors: makitie o. J Bone Miner Res. 2017 Dec;32(12):2394-2404. doi: 10.1002/jbmr.3233. Epub 2017 Sep 6. J Bone Miner Res. 2017. PMID: 28777485 Free article.
High bone mass due to novel LRP5 and AMER1 mutations.
Costantini A, Kekäläinen P, Mäkitie RE, Mäkitie O. Costantini A, et al. Among authors: makitie re, makitie o. Eur J Med Genet. 2017 Dec;60(12):675-679. doi: 10.1016/j.ejmg.2017.09.001. Epub 2017 Sep 8. Eur J Med Genet. 2017. PMID: 28893644
389 results