Horinek A - Search Results

1

Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3.

Evans CJ, Liskova P, Dudakova L, Hrabcikova P, Horinek A, Jirsova K, Filipec M, Hardcastle AJ, Davidson AE, Tuft SJ. Evans CJ, et al. Among authors: horinek a. Ann Hum Genet. 2015 Jan;79(1):1-9. doi: 10.1111/ahg.12090. Epub 2014 Dec 1. Ann Hum Genet. 2015. PMID: 25441224

2

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.

Evans CJ, Dudakova L, Skalicka P, Mahelkova G, Horinek A, Hardcastle AJ, Tuft SJ, Liskova P. Evans CJ, et al. Among authors: horinek a. BMC Ophthalmol. 2018 Sep 17;18(1):250. doi: 10.1186/s12886-018-0918-8. BMC Ophthalmol. 2018. PMID: 30223810 Free PMC article.

3

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.

Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, Horinek A, Munier FL, Voide N, Studeny P, Vanikova L, Kubena T, Rojas Lopez KE, Davidson AE, Hardcastle AJ, Tuft SJ, Liskova P. Dudakova L, et al. Among authors: horinek a. Exp Eye Res. 2019 May;182:160-166. doi: 10.1016/j.exer.2019.03.002. Epub 2019 Mar 7. Exp Eye Res. 2019. PMID: 30851240

4

Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant.

Skalicka P, Jedlickova J, Horinek A, Trkova M, Davidson AE, Tuft SJ, Dudakova L, Liskova P. Skalicka P, et al. Among authors: horinek a. J Clin Med. 2022 Aug 31;11(17):5166. doi: 10.3390/jcm11175166. J Clin Med. 2022. PMID: 36079096 Free PMC article.

5

Application of the new insertion-deletion polymorphism kit for forensic identification and parentage testing on the Czech population.

Zidkova A, Horinek A, Kebrdlova V, Korabecna M. Zidkova A, et al. Among authors: horinek a. Int J Legal Med. 2013 Jan;127(1):7-10. doi: 10.1007/s00414-011-0649-3. Epub 2011 Nov 29. Int J Legal Med. 2013. PMID: 22124616 Free PMC article.

6

Optimization of diagnostic strategy for non-invasive cell-free foetal RHD determination from maternal plasma.

Pazourkova E, Zednikova I, Korabecna M, Kralova J, Pisacka M, Novotna M, Calda P, Horinek A. Pazourkova E, et al. Among authors: horinek a. Vox Sang. 2021 Oct;116(9):1012-1019. doi: 10.1111/vox.13099. Epub 2021 Mar 24. Vox Sang. 2021. PMID: 33761162

7

APOA5 Ala315>Val, identified in patients with severe hypertriglyceridemia, is a common mutation with no major effects on plasma lipid levels.

Hubacek JA, Wang WW, Skodová Z, Adámková V, Vráblík M, Horínek A, Stulc T, Ceska R, Talmud PJ. Hubacek JA, et al. Among authors: horinek a. Clin Chem Lab Med. 2008;46(6):773-7. doi: 10.1515/CCLM.2008.160. Clin Chem Lab Med. 2008. PMID: 18601597

8

Familial dysbetalipoproteinemia in three patients with apoE 2*(Arg136-->Cys) gene variant.

Vrablík M, Horínek A, Ceska R, Stulc T, Kvasnicka T. Vrablík M, et al. Among authors: horinek a. Physiol Res. 2003;52(5):647-50. Physiol Res. 2003. PMID: 14535841 Free article.

9

Comparison of MicroRNA Content in Plasma and Urine Indicates the Existence of a Transrenal Passage of Selected MicroRNAs.

Pazourkova E, Pospisilova S, Svobodova I, Horinek A, Brisuda A, Soukup V, Hrbacek J, Capoun O, Mares J, Hanus T, Babjuk M, Korabecna M. Pazourkova E, et al. Among authors: horinek a. Adv Exp Med Biol. 2016;924:97-100. doi: 10.1007/978-3-319-42044-8_18. Adv Exp Med Biol. 2016. PMID: 27753026

10

The effect of very-low-calorie diet on mRNA expression of inflammation-related genes in subcutaneous adipose tissue and peripheral monocytes of obese patients with type 2 diabetes mellitus.

Mraz M, Lacinova Z, Drapalova J, Haluzikova D, Horinek A, Matoulek M, Trachta P, Kavalkova P, Svacina S, Haluzik M. Mraz M, et al. Among authors: horinek a. J Clin Endocrinol Metab. 2011 Apr;96(4):E606-13. doi: 10.1210/jc.2010-1858. Epub 2011 Feb 2. J Clin Endocrinol Metab. 2011. PMID: 21289263 Clinical Trial.

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