Mäkitie O - Search Results

1

Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7.

Costantini A, Wallgren-Pettersson C, Mäkitie O. Costantini A, et al. Among authors: makitie o. Eur J Med Genet. 2018 Oct;61(10):612-615. doi: 10.1016/j.ejmg.2018.04.004. Epub 2018 Apr 14. Eur J Med Genet. 2018. PMID: 29660408

2

Cartilage-hair hypoplasia.

Mäkitie O, Sulisalo T, de la Chapelle A, Kaitila I. Mäkitie O, et al. J Med Genet. 1995 Jan;32(1):39-43. doi: 10.1136/jmg.32.1.39. J Med Genet. 1995. PMID: 7897625 Free PMC article. Review. No abstract available.

3

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.

Ridanpää M, Ward LM, Rockas S, Särkioja M, Mäkelä H, Susic M, Glorieux FH, Cole WG, Mäkitie O. Ridanpää M, et al. Among authors: makitie o. J Med Genet. 2003 Oct;40(10):741-6. doi: 10.1136/jmg.40.10.741. J Med Genet. 2003. PMID: 14569119 Free PMC article.

4

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

Mäkitie O, Mortier GR, Czarny-Ratajczak M, Wright MJ, Suri M, Rogala P, Freund M, Jackson GC, Jakkula E, Ala-Kokko L, Briggs MD, Cole WG. Mäkitie O, et al. Am J Med Genet A. 2004 Mar 15;125A(3):278-84. doi: 10.1002/ajmg.a.20486. Am J Med Genet A. 2004. PMID: 14994237

5

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.

6

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

Kvarnung M, Nilsson D, Lindstrand A, Korenke GC, Chiang SC, Blennow E, Bergmann M, Stödberg T, Mäkitie O, Anderlid BM, Bryceson YT, Nordenskjöld M, Nordgren A. Kvarnung M, et al. Among authors: makitie o. J Med Genet. 2013 Aug;50(8):521-8. doi: 10.1136/jmedgenet-2013-101654. Epub 2013 May 1. J Med Genet. 2013. PMID: 23636107

7

The phenotype range of achondrogenesis 1A.

Grigelioniene G, Geiberger S, Papadogiannakis N, Mäkitie O, Nishimura G, Nordgren A, Conner P. Grigelioniene G, et al. Among authors: makitie o. Am J Med Genet A. 2013 Oct;161A(10):2554-8. doi: 10.1002/ajmg.a.36106. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956106

8

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

9

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).

Mäkitie O, Geiberger S, Horemuzova E, Hagenäs L, Moström E, Nordenskjöld M, Grigelioniene G, Nordgren A. Mäkitie O, et al. Clin Genet. 2015 Mar;87(3):273-8. doi: 10.1111/cge.12371. Epub 2014 Apr 1. Clin Genet. 2015. PMID: 24598000

10

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, Åström E, Nordenskjöld M, Nordgren A, Mäkitie O. Grigelioniene G, et al. Among authors: makitie o. Am J Med Genet A. 2014 Jul;164A(7):1635-41. doi: 10.1002/ajmg.a.36502. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677493 Review.

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