Fajkusová 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: fajkusova 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

[Direct detection of mutations in the LDL receptor gene in patients with familial hypercholesterolemia].

Freiberger T, Kuhrová V, Kozák L, Soska V, Pekarík V, Mĕrínská L, Fajkusová L, Francová H. Freiberger T, et al. Among authors: fajkusova l. Cas Lek Cesk. 1998 Dec 14;137(24):750-2. Cas Lek Cesk. 1998. PMID: 10081189 Czech.

3

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

Kuhrová V, Francová H, Zapletalová P, Freiberger T, Fajkusová L, Hrabincová E, Slováková R, Kozák L. Kuhrová V, et al. Among authors: fajkusova l. Hum Mutat. 2001 Sep;18(3):253. doi: 10.1002/humu.1185. Hum Mutat. 2001. Corrected and republished in: Hum Mutat. 2002 Jan;19(1):80. doi: 10.1002/humu.9000 PMID: 11524740 Corrected and republished.

4

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

Kuhrová V, Francová H, Zapletalová P, Freiberger T, Fajkusová L, Hrabincová E, Slováĉková R, Kozák L, Slováková R. Kuhrová V, et al. Among authors: fajkusova l. Hum Mutat. 2002 Jan;19(1):80. doi: 10.1002/humu.9000. Hum Mutat. 2002. PMID: 11754108

5

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: fajkusova 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.

6

Plasma HDL-cholesterol and triglyceride levels in familial hypercholesterolemia: data from the MedPed CZ database and the Czech population.

Soska V, Freiberger T, Cifkova R, Lanska V, Vrablik M, Fajkusova L, Ceska R. Soska V, et al. Among authors: fajkusova l. Clin Chim Acta. 2011 May 12;412(11-12):920-4. doi: 10.1016/j.cca.2011.01.017. Epub 2011 Jan 21. Clin Chim Acta. 2011. PMID: 21256834

7

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: fajkusova l. Atherosclerosis. 2011 May;216(1):139-45. doi: 10.1016/j.atherosclerosis.2011.01.023. Epub 2011 Jan 21. Atherosclerosis. 2011. PMID: 21310417

8

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: fajkusova 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

9

Cardio-ankle vascular index in heterozygous familial hypercholesterolemia.

Soska V, Dobsak P, Dusek L, Shirai K, Jarkovsky J, Novakova M, Brhel P, Stastna J, Fajkusova L, Freiberger T, Yambe T. Soska V, et al. Among authors: fajkusova l. J Atheroscler Thromb. 2012;19(5):453-61. doi: 10.5551/jat.9639. Epub 2012 Jan 12. J Atheroscler Thromb. 2012. PMID: 22659529 Free article.

10

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. Among authors: fajkusova l. Atherosclerosis. 2012 Aug;223(2):401-8. doi: 10.1016/j.atherosclerosis.2012.05.014. Epub 2012 May 23. Atherosclerosis. 2012. PMID: 22698793

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