Kožich V - Search Results

1

Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans.

Putku M, Kepp K, Org E, Sõber S, Comas D, Viigimaa M, Veldre G, Juhanson P, Hallast P, Tõnisson N; HYPertension in ESTonia (HYPEST); Shaw-Hawkins S, Caulfield MJ; BRItish Genetics of HyperTension (BRIGHT); Khusnutdinova E, Kožich V, Munroe PB, Laan M. Putku M, et al. Among authors: kozich v. Hum Mutat. 2011 Jul;32(7):806-14. doi: 10.1002/humu.21508. Epub 2011 May 10. Hum Mutat. 2011. PMID: 21520334 Free PMC article.

2

Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits.

Kepp K, Org E, Sõber S, Kelgo P, Viigimaa M, Veldre G, Tõnisson N, Juhanson P, Putku M, Kindmark A, Kozich V, Laan M. Kepp K, et al. Among authors: kozich v. BMC Med Genet. 2010 Jan 28;11:15. doi: 10.1186/1471-2350-11-15. BMC Med Genet. 2010. PMID: 20109173 Free PMC article.

3

Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1.

Kepp K, Juhanson P, Kozich V, Ots M, Viigimaa M, Laan M. Kepp K, et al. Among authors: kozich v. BMC Med Genet. 2007 Jul 23;8:47. doi: 10.1186/1471-2350-8-47. BMC Med Genet. 2007. PMID: 17645789 Free PMC article.

4

CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs.

Putku M, Kals M, Inno R, Kasela S, Org E, Kožich V, Milani L, Laan M. Putku M, et al. Among authors: kozich v. Hum Genet. 2015 Mar;134(3):291-303. doi: 10.1007/s00439-014-1521-6. Epub 2014 Dec 28. Hum Genet. 2015. PMID: 25543204 Free PMC article.

5

Developmental programming of growth: genetic variant in GH2 gene encoding placental growth hormone contributes to adult height determination.

Timasheva Y, Putku M, Kivi R, Kožich V, Männik J, Laan M. Timasheva Y, et al. Among authors: kozich v. Placenta. 2013 Nov;34(11):995-1001. doi: 10.1016/j.placenta.2013.08.012. Epub 2013 Aug 29. Placenta. 2013. PMID: 24035309 Free PMC article.

6

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V. Vyletal P, et al. Among authors: kozich v. Hum Mutat. 2007 Mar;28(3):255-64. doi: 10.1002/humu.20430. Hum Mutat. 2007. PMID: 17072863 Free PMC article.

7

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR. Burda P, et al. Among authors: kozich v. Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27. Hum Mutat. 2015. PMID: 25736335

8

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.

Homolova K, Zavadakova P, Doktor TK, Schroeder LD, Kozich V, Andresen BS. Homolova K, et al. Among authors: kozich v. Hum Mutat. 2010 Apr;31(4):437-44. doi: 10.1002/humu.21206. Hum Mutat. 2010. PMID: 20120036 Free PMC article.

9

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS, Huemer M, Suormala T, Burda P, Coelho D, Guéant JL, Landolt MA, Kožich V, Fowler B, Baumgartner MR. Froese DS, et al. Among authors: kozich v. Hum Mutat. 2016 May;37(5):427-38. doi: 10.1002/humu.22970. Epub 2016 Mar 18. Hum Mutat. 2016. PMID: 26872964

10

The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.

Linnebank M, Janosik M, Kozich V, Pronicka E, Kubalska J, Sokolova J, Linnebank A, Schmidt E, Leyendecker C, Klockgether T, Kraus JP, Koch HG. Linnebank M, et al. Among authors: kozich v. Hum Mutat. 2004 Oct;24(4):352-3. doi: 10.1002/humu.9280. Hum Mutat. 2004. PMID: 15365998

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