Mäkitie R - Search Results

1

FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents.

Pekkinen M, Laine CM, Mäkitie R, Leinonen E, Lamberg-Allardt C, Viljakainen H, Mäkitie O. Pekkinen M, et al. Among authors: makitie r, makitie o. Bone. 2015 Feb;71:124-30. doi: 10.1016/j.bone.2014.10.013. Epub 2014 Oct 24. Bone. 2015. PMID: 25445451 Free article.

2

[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.

3

New Genetic Forms of Childhood-Onset Primary Osteoporosis.

Kämpe AJ, Mäkitie RE, Mäkitie O. Kämpe AJ, et al. Horm Res Paediatr. 2015;84(6):361-9. doi: 10.1159/000439566. Epub 2015 Oct 31. Horm Res Paediatr. 2015. PMID: 26517534 Review.

4

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults.

Mäkitie RE, Haanpää M, Valta H, Pekkinen M, Laine CM, Lehesjoki AE, Schalin-Jäntti C, Mäkitie O. Mäkitie RE, et al. J Bone Miner Res. 2016 Sep;31(9):1734-42. doi: 10.1002/jbmr.2841. Epub 2016 Apr 25. J Bone Miner Res. 2016. PMID: 27005318 Free article.

5

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.

6

Osteocyte Protein Expression Is Altered in Low-Turnover Osteoporosis Caused by Mutations in WNT1 and PLS3.

Wesseling-Perry K, Mäkitie RE, Välimäki VV, Laine T, Laine CM, Välimäki MJ, Pereira RC, Mäkitie O. Wesseling-Perry K, et al. J Clin Endocrinol Metab. 2017 Jul 1;102(7):2340-2348. doi: 10.1210/jc.2017-00099. J Clin Endocrinol Metab. 2017. PMID: 28379384 Free PMC article.

7

Impaired WNT signaling and the spine-Heterozygous WNT1 mutation causes severe age-related spinal pathology.

Mäkitie RE, Niinimäki T, Nieminen MT, Schalin-Jäntti C, Niinimäki J, Mäkitie O. Mäkitie RE, et al. Bone. 2017 Aug;101:3-9. doi: 10.1016/j.bone.2017.04.001. Epub 2017 Apr 11. Bone. 2017. PMID: 28411110

8

Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility.

Mäkitie RE, Kämpe AJ, Taylan F, Mäkitie O. Mäkitie RE, et al. Curr Osteoporos Rep. 2017 Aug;15(4):303-310. doi: 10.1007/s11914-017-0388-6. Curr Osteoporos Rep. 2017. PMID: 28646443 Review.

9

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.

Kämpe AJ, Costantini A, Mäkitie RE, Jäntti N, Valta H, Mäyränpää M, Kröger H, Pekkinen M, Taylan F, Jiao H, Mäkitie O. Kämpe AJ, et al. Among authors: makitie re, makitie o. Osteoporos Int. 2017 Oct;28(10):3023-3032. doi: 10.1007/s00198-017-4150-9. Epub 2017 Jul 26. Osteoporos Int. 2017. PMID: 28748388 Free PMC article.

10

High bone mass due to novel LRP5 and AMER1 mutations.

Costantini A, Kekäläinen P, Mäkitie RE, Mäkitie O. Costantini A, et al. 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

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