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Page 1
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
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE. Polvi A, et al. Among authors: makitie o. Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387016 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
A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis.
Laine CM, Wessman M, Toiviainen-Salo S, Kaunisto MA, Mäyränpää MK, Laine T, Pekkinen M, Kröger H, Välimäki VV, Välimäki MJ, Lehesjoki AE, Mäkitie O. Laine CM, et al. Among authors: makitie o. J Bone Miner Res. 2015 Mar;30(3):510-8. doi: 10.1002/jbmr.2355. J Bone Miner Res. 2015. PMID: 25209159 Free 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 Review.
402 results