Tichý L - Search Results

1

Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact.

Dušková L, Nohelová L, Loja T, Fialová J, Zapletalová P, Réblová K, Tichý L, Freiberger T, Fajkusová L. Dušková L, et al. Among authors: tichy l. Front Genet. 2020 Jun 30;11:691. doi: 10.3389/fgene.2020.00691. eCollection 2020. Front Genet. 2020. PMID: 32695144 Free PMC article.

2

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.

Goldmann R, Tichý L, Freiberger T, Zapletalová P, Letocha O, Soska V, Fajkus J, Fajkusová L. Goldmann R, et al. Among authors: tichy l. BMC Med Genet. 2010 Jul 27;11:115. doi: 10.1186/1471-2350-11-115. BMC Med Genet. 2010. PMID: 20663204 Free PMC article.

3

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L, Kopečková L, Jansová E, Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L. Dušková L, et al. Among authors: tichy l. Atherosclerosis. 2011 May;216(1):139-45. doi: 10.1016/j.atherosclerosis.2011.01.023. Epub 2011 Jan 21. Atherosclerosis. 2011. PMID: 21310417

4

The logarithm of the triglyceride/HDL-cholesterol ratio is related to the history of cardiovascular disease in patients with familial hypercholesterolemia.

Soška V, Jarkovský J, Ravčuková B, Tichý L, Fajkusová L, Freiberger T. Soška V, et al. Among authors: tichy l. Clin Biochem. 2012 Jan;45(1-2):96-100. doi: 10.1016/j.clinbiochem.2011.11.001. Epub 2011 Nov 18. Clin Biochem. 2012. PMID: 22119890

5

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L. Tichý L, et al. Atherosclerosis. 2012 Aug;223(2):401-8. doi: 10.1016/j.atherosclerosis.2012.05.014. Epub 2012 May 23. Atherosclerosis. 2012. PMID: 22698793

6

Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.

Pavloušková J, Réblová K, Tichý L, Freiberger T, Fajkusová L. Pavloušková J, et al. Among authors: tichy l. Atherosclerosis. 2016 Jul;250:9-14. doi: 10.1016/j.atherosclerosis.2016.04.022. Epub 2016 Apr 27. Atherosclerosis. 2016. PMID: 27175606

7

[Familial hypercholesterolemia in the Czech Republic in 2016].

Freiberger T, Vaclová M, Tichý L, Soška V, Bláha V, Fajkusová L, Češka R, Vrablík M. Freiberger T, et al. Among authors: tichy l. Vnitr Lek. 2016 Fall;62(11):924-928. Vnitr Lek. 2016. PMID: 28128581 Czech.

8

Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project.

Vrablík M, Vaclová M, Tichý L, Soška V, Bláha V, Fajkusová L, Češka R, Šatný M, Freiberger T. Vrablík M, et al. Among authors: tichy l. Physiol Res. 2017 Apr 5;66(Suppl 1):S1-S9. doi: 10.33549/physiolres.933600. Physiol Res. 2017. PMID: 28379025 Free article. Review.

9

Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.

Tichý L, Fajkusová L, Zapletalová P, Schwarzová L, Vrablík M, Freiberger T. Tichý L, et al. Physiol Res. 2017 Apr 5;66(Suppl 1):S47-S54. doi: 10.33549/physiolres.933587. Physiol Res. 2017. PMID: 28379029 Free article. Review.

10

ClinVar database of global familial hypercholesterolemia-associated DNA variants.

Iacocca MA, Chora JR, Carrié A, Freiberger T, Leigh SE, Defesche JC, Kurtz CL, DiStefano MT, Santos RD, Humphries SE, Mata P, Jannes CE, Hooper AJ, Wilemon KA, Benlian P, O'Connor R, Garcia J, Wand H, Tichy L, Sijbrands EJ, Hegele RA, Bourbon M, Knowles JW; ClinGen FH Variant Curation Expert Panel. Iacocca MA, et al. Among authors: tichy l. Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634. Hum Mutat. 2018. PMID: 30311388 Free PMC article.

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