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Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Hayat A, Hussain S, Bilal M, Kausar M, Almuzzaini B, Abbas S, Tanveer A, Khan A, Siddiqi S, Foo JN, Ahmad F, Khan F, Khan B, Anees M, Mäkitie O, Alfadhel M, Ahmad W, Umair M. Hayat A, et al. Among authors: makitie o. Eur J Med Genet. 2020 Aug;63(8):103954. doi: 10.1016/j.ejmg.2020.103954. Epub 2020 May 13. Eur J Med Genet. 2020. PMID: 32413570
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.
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.
Decreased telomere length in children with cartilage-hair hypoplasia.
Kostjukovits S, Degerman S, Pekkinen M, Klemetti P, Landfors M, Roos G, Taskinen M, Mäkitie O. Kostjukovits S, et al. Among authors: makitie o. J Med Genet. 2017 May;54(5):365-370. doi: 10.1136/jmedgenet-2016-104279. Epub 2016 Dec 16. J Med Genet. 2017. PMID: 27986801
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
390 results