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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.
SGMS2 in primary osteoporosis with facial nerve palsy.
Pihlström S, Richardt S, Määttä K, Pekkinen M, Olkkonen VM, Mäkitie O, Mäkitie RE. Pihlström S, et al. Among authors: makitie re, makitie o. Front Endocrinol (Lausanne). 2023 Oct 11;14:1224318. doi: 10.3389/fendo.2023.1224318. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37886644 Free PMC article. Review.
[Shwachman-Diamond syndrome--a diagnostic challenge].
Toiviainen-Salo S, Savilahti E, Mäkitie R, Mäkitie O. Toiviainen-Salo S, et al. Among authors: makitie r, makitie o. Duodecim. 2010;126(14):1711-9. Duodecim. 2010. PMID: 20804090 Finnish.
Dual effect of adipose tissue on bone health during growth.
Viljakainen HT, Pekkinen M, Saarnio E, Karp H, Lamberg-Allardt C, Mäkitie O. Viljakainen HT, et al. Among authors: makitie o. Bone. 2011 Feb;48(2):212-7. doi: 10.1016/j.bone.2010.09.022. Epub 2010 Sep 19. Bone. 2011. PMID: 20858556
Vitamin D is a major determinant of bone mineral density at school age.
Pekkinen M, Viljakainen H, Saarnio E, Lamberg-Allardt C, Mäkitie O. Pekkinen M, et al. Among authors: makitie o. PLoS One. 2012;7(7):e40090. doi: 10.1371/journal.pone.0040090. Epub 2012 Jul 2. PLoS One. 2012. PMID: 22768331 Free PMC article. Clinical Trial.
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.
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A. Lindstrand A, et al. Among authors: makitie o. J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7. J Med Genet. 2014. PMID: 24203977
386 results