Dudakova L - Search Results

1

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.

Dudakova L, Stranecky V, Piherova L, Palecek T, Pontikos N, Kmoch S, Skalicka P, Vaneckova M, Davidson AE, Liskova P. Dudakova L, et al. Genes (Basel). 2021 Apr 30;12(5):677. doi: 10.3390/genes12050677. Genes (Basel). 2021. PMID: 33946386 Free PMC article.

2

Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas.

Dudakova L, Liskova P, Trojek T, Palos M, Kalasova S, Jirsova K. Dudakova L, et al. Exp Eye Res. 2012 Nov;104:74-81. doi: 10.1016/j.exer.2012.09.005. Epub 2012 Oct 3. Exp Eye Res. 2012. PMID: 23041260

3

Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.

Dudakova L, Palos M, Hardcastle AJ, Liskova P. Dudakova L, et al. Ophthalmic Genet. 2014 Dec;35(4):252-4. doi: 10.3109/13816810.2013.811272. Epub 2013 Jul 8. Ophthalmic Genet. 2014. PMID: 23834557 No abstract available.

4

Macular corneal dystrophy and associated corneal thinning.

Dudakova L, Palos M, Svobodova M, Bydzovsky J, Huna L, Jirsova K, Hardcastle AJ, Tuft SJ, Liskova P. Dudakova L, et al. Eye (Lond). 2014 Oct;28(10):1201-5. doi: 10.1038/eye.2014.164. Epub 2014 Aug 1. Eye (Lond). 2014. PMID: 25081284 Free PMC article.

5

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: dudakova l. Ann Hum Genet. 2015 Jan;79(1):1-9. doi: 10.1111/ahg.12090. Epub 2014 Dec 1. Ann Hum Genet. 2015. PMID: 25441224

6

Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation.

Liskova P, Dudakova L, Tesar V, Bednarova V, Kidorova J, Jirsova K, Davidson AE, Hardcastle AJ. Liskova P, et al. Among authors: dudakova l. Ophthalmic Res. 2015;53(1):30-5. doi: 10.1159/000365109. Epub 2014 Dec 11. Ophthalmic Res. 2015. PMID: 25500497 Free article.

7

Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent.

Dudakova L, Palos M, Jirsova K, Stranecky V, Krepelova A, Hysi PG, Liskova P. Dudakova L, et al. Eur J Hum Genet. 2015 Nov;23(11):1581-3. doi: 10.1038/ejhg.2015.28. Epub 2015 Mar 4. Eur J Hum Genet. 2015. PMID: 25735481 Free PMC article.

8

Is copper imbalance an environmental factor influencing keratoconus development?

Dudakova L, Liskova P, Jirsova K. Dudakova L, et al. Med Hypotheses. 2015 May;84(5):518-24. doi: 10.1016/j.mehy.2015.02.017. Epub 2015 Mar 2. Med Hypotheses. 2015. PMID: 25758858

9

The presence of lysyl oxidase-like enzymes in human control and keratoconic corneas.

Dudakova L, Sasaki T, Liskova P, Palos M, Jirsova K. Dudakova L, et al. Histol Histopathol. 2016 Jan;31(1):63-71. doi: 10.14670/HH-11-649. Epub 2015 Jul 28. Histol Histopathol. 2016. PMID: 26218558

10

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

Liskova P, Evans CJ, Davidson AE, Zaliova M, Dudakova L, Trkova M, Stranecky V, Carnt N, Plagnol V, Vincent AL, Tuft SJ, Hardcastle AJ. Liskova P, et al. Among authors: dudakova l. Eur J Hum Genet. 2016 Jul;24(7):985-91. doi: 10.1038/ejhg.2015.232. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508574 Free PMC article.

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