Metspalu A - Search Results

1

Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.

Braschinsky M, Tamm R, Beetz C, Sachez-Ferrero E, Raukas E, Lüüs SM, Gross-Paju K, Boillot C, Canzian F, Metspalu A, Haldre S. Braschinsky M, et al. Among authors: metspalu a. BMC Neurol. 2010 Mar 9;10:17. doi: 10.1186/1471-2377-10-17. BMC Neurol. 2010. PMID: 20214791 Free PMC article.

2

Thiopurine S-methyltransferase (TPMT) pharmacogenetics: three new mutations and haplotype analysis in the Estonian population.

Tamm R, Oselin K, Kallassalu K, Magi R, Anier K, Remm M, Metspalu A. Tamm R, et al. Among authors: metspalu a. Clin Chem Lab Med. 2008;46(7):974-9. doi: 10.1515/CCLM.2008.187. Clin Chem Lab Med. 2008. PMID: 18605963

3

From pharmacogenetics to pharmacometabolomics: SAM modulates TPMT activity.

Karas-Kuželički N, Šmid A, Tamm R, Metspalu A, Mlinarič-Raščan I. Karas-Kuželički N, et al. Among authors: metspalu a. Pharmacogenomics. 2014 Aug;15(11):1437-49. doi: 10.2217/pgs.14.84. Pharmacogenomics. 2014. PMID: 25303295

4

Polymorphic variation in TPMT is the principal determinant of TPMT phenotype: A meta-analysis of three genome-wide association studies.

Tamm R, Mägi R, Tremmel R, Winter S, Mihailov E, Smid A, Möricke A, Klein K, Schrappe M, Stanulla M, Houlston R, Weinshilboum R, Mlinarič Raščan I, Metspalu A, Milani L, Schwab M, Schaeffeler E. Tamm R, et al. Among authors: metspalu a. Clin Pharmacol Ther. 2017 May;101(5):684-695. doi: 10.1002/cpt.540. Epub 2017 Feb 1. Clin Pharmacol Ther. 2017. PMID: 27770449 Free PMC article. Review.

5

Evaluating the performance of commercial whole-genome marker sets for capturing common genetic variation.

Mägi R, Pfeufer A, Nelis M, Montpetit A, Metspalu A, Remm M. Mägi R, et al. Among authors: metspalu a. BMC Genomics. 2007 Jun 11;8:159. doi: 10.1186/1471-2164-8-159. BMC Genomics. 2007. PMID: 17562002 Free PMC article.

6

Selection for genetic variation inducing pro-inflammatory responses under adverse environmental conditions in a Ghanaian population.

Kuningas M, May L, Tamm R, van Bodegom D, van den Biggelaar AH, Meij JJ, Frölich M, Ziem JB, Suchiman HE, Metspalu A, Slagboom PE, Westendorp RG. Kuningas M, et al. Among authors: metspalu a. PLoS One. 2009 Nov 11;4(11):e7795. doi: 10.1371/journal.pone.0007795. PLoS One. 2009. PMID: 19907653 Free PMC article.

7

Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients.

Nikopensius T, Birnbaum S, Ludwig KU, Jagomägi T, Saag M, Herms S, Knapp M, Hoffmann P, Nöthen MM, Metspalu A, Mangold E. Nikopensius T, et al. Among authors: metspalu a. Eur J Oral Sci. 2010 Jun;118(3):317-9. doi: 10.1111/j.1600-0722.2010.00741.x. Eur J Oral Sci. 2010. PMID: 20572868

8

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

Männik K, Parkel S, Palta P, Zilina O, Puusepp H, Esko T, Mägi R, Nõukas M, Veidenberg A, Nelis M, Metspalu A, Remm M, Ounap K, Kurg A. Männik K, et al. Among authors: metspalu a. Eur J Med Genet. 2011 Mar-Apr;54(2):136-43. doi: 10.1016/j.ejmg.2010.11.005. Epub 2010 Nov 26. Eur J Med Genet. 2011. PMID: 21112420

9

Post-translational stabilization of thiopurine S-methyltransferase by S-adenosyl-L-methionine reveals regulation of TPMT*1 and *3C allozymes.

Milek M, Smid A, Tamm R, Kuzelicki NK, Metspalu A, Mlinaric-Rascan I. Milek M, et al. Among authors: metspalu a. Biochem Pharmacol. 2012 Apr 1;83(7):969-76. doi: 10.1016/j.bcp.2012.01.010. Epub 2012 Jan 17. Biochem Pharmacol. 2012. PMID: 22274639

10

A missense mutation in DUSP6 is associated with Class III malocclusion.

Nikopensius T, Saag M, Jagomägi T, Annilo T, Kals M, Kivistik PA, Milani L, Metspalu A. Nikopensius T, et al. Among authors: metspalu a. J Dent Res. 2013 Oct;92(10):893-8. doi: 10.1177/0022034513502790. Epub 2013 Aug 21. J Dent Res. 2013. PMID: 23965468

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