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Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.
Toiviainen-Salo S, Mäyränpää MK, Durie PR, Richards N, Grynpas M, Ellis L, Ikegawa S, Cole WG, Rommens J, Marttinen E, Savilahti E, Mäkitie O. Toiviainen-Salo S, et al. Among authors: makitie o. Bone. 2007 Dec;41(6):965-72. doi: 10.1016/j.bone.2007.08.035. Epub 2007 Sep 5. Bone. 2007. PMID: 17920346
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, Mäkitie O. Laine CM, et al. Among authors: makitie o. N Engl J Med. 2013 May 9;368(19):1809-16. doi: 10.1056/NEJMoa1215458. N Engl J Med. 2013. PMID: 23656646 Free PMC article.
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".
Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, Mäkitie O, Campeau PM. Costantini A, et al. Among authors: makitie o. Bone. 2019 Apr;121:163-171. doi: 10.1016/j.bone.2018.12.020. Epub 2018 Dec 30. Bone. 2019. PMID: 30599297
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon YU, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier-Daire V, Kim OH, Forlino A, Cho TJ, Mäkitie O. Costantini A, et al. Among authors: makitie o. J Bone Miner Res. 2021 Feb;36(2):283-297. doi: 10.1002/jbmr.4177. Epub 2020 Oct 13. J Bone Miner Res. 2021. PMID: 32916022 Free PMC article.
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
Reilly ML, Ain NU, Muurinen M, Tata A, Huber C, Simon M, Ishaq T, Shaw N, Rusanen S, Pekkinen M, Högler W, Knapen MFCM, van den Born M, Saunier S, Naz S, Cormier-Daire V, Benmerah A, Makitie O. Reilly ML, et al. Among authors: makitie o. J Bone Miner Res. 2022 Sep;37(9):1642-1652. doi: 10.1002/jbmr.4639. Epub 2022 Jul 19. J Bone Miner Res. 2022. PMID: 35748595 Free PMC article.
402 results