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Page 1
The phenotype range of achondrogenesis 1A.
Grigelioniene G, Geiberger S, Papadogiannakis N, Mäkitie O, Nishimura G, Nordgren A, Conner P. Grigelioniene G, et al. 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
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: grigelioniene g. 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
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.
Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, Hammarsjö A, Armenio M, Mäkitie O, Zabel B, Nordgren A, Nordenskjöld M, Grigelioniene G. Tham E, et al. Among authors: grigelioniene g. Clin Genet. 2015 May;87(5):496-8. doi: 10.1111/cge.12466. Epub 2014 Sep 8. Clin Genet. 2015. PMID: 25060605 No abstract available.
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A. Laurell T, et al. Among authors: grigelioniene g. Mol Genet Genomic Med. 2014 Sep;2(5):402-11. doi: 10.1002/mgg3.81. Epub 2014 May 14. Mol Genet Genomic Med. 2014. PMID: 25333065 Free PMC article.
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
Grigelioniene G, Nevalainen PI, Reyes M, Thiele S, Tafaj O, Molinaro A, Takatani R, Ala-Houhala M, Nilsson D, Eisfeldt J, Lindstrand A, Kottler ML, Mäkitie O, Jüppner H. Grigelioniene G, et al. J Bone Miner Res. 2017 Apr;32(4):776-783. doi: 10.1002/jbmr.3083. Epub 2017 Feb 24. J Bone Miner Res. 2017. PMID: 28084650 Free PMC article.
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome.
Pekkinen M, Grigelioniene G, Akin L, Shah K, Karaer K, Kurtoğlu S, Ekbote A, Aycan Z, Sağsak E, Danda S, Åström E, Mäkitie O. Pekkinen M, et al. Among authors: grigelioniene g. Am J Med Genet A. 2017 Dec;173(12):3132-3135. doi: 10.1002/ajmg.a.38491. Epub 2017 Oct 21. Am J Med Genet A. 2017. PMID: 29055141 No abstract available.
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