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Items: 1 to 50 of 80

1.

CUGC for posterior polymorphous corneal dystrophy (PPCD).

Davidson AE, Hafford-Tear NJ, Dudakova L, Sadan AN, Pontikos N, Hardcastle AJ, Tuft SJ, Liskova P.

Eur J Hum Genet. 2019 Jun 14. doi: 10.1038/s41431-019-0448-8. [Epub ahead of print]

PMID:
31201376
2.

Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty.

Skalicka P, Dudakova L, Palos M, Huna LJ, Evans CJ, Mahelkova G, Meliska M, Stopka T, Tuft S, Liskova P.

Acta Ophthalmol. 2019 May 2. doi: 10.1111/aos.14123. [Epub ahead of print]

PMID:
31044553
3.

Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.

Skalicka P, Porter LF, Brejchova K, Malinka F, Dudakova L, Liskova P.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019 Apr 17. doi: 10.5507/bp.2019.017. [Epub ahead of print]

PMID:
31025659
4.

Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3.

Dudakova L, Skalicka P, Davidson AE, Liskova P.

Cornea. 2019 Jun;38(6):758-760. doi: 10.1097/ICO.0000000000001930.

PMID:
30950897
5.

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.

Exp Eye Res. 2019 May;182:160-166. doi: 10.1016/j.exer.2019.03.002. Epub 2019 Mar 7.

PMID:
30851240
6.

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.

Hafford-Tear NJ, Tsai YC, Sadan AN, Sanchez-Pintado B, Zarouchlioti C, Maher GJ, Liskova P, Tuft SJ, Hardcastle AJ, Clark TA, Davidson AE.

Genet Med. 2019 Feb 8. doi: 10.1038/s41436-019-0453-x. [Epub ahead of print]

PMID:
30733599
7.

Simple Way to Detect Trp to Tb3+ Resonance Energy Transfer in Calcium-Binding Peptides Using Excitation Spectrum.

Lišková P, Konopásek I, Fišer R.

J Fluoresc. 2019 Jan;29(1):9-14. doi: 10.1007/s10895-018-2326-0. Epub 2018 Nov 23.

PMID:
30471022
8.

Daptomycin Pore Formation and Stoichiometry Depend on Membrane Potential of Target Membrane.

Seydlová G, Sokol A, Lišková P, Konopásek I, Fišer R.

Antimicrob Agents Chemother. 2018 Dec 21;63(1). pii: e01589-18. doi: 10.1128/AAC.01589-18. Print 2019 Jan.

9.

Peripapillary microcirculation in Leber hereditary optic neuropathy.

Kousal B, Kolarova H, Meliska M, Bydzovsky J, Diblik P, Kulhanek J, Votruba M, Honzik T, Liskova P.

Acta Ophthalmol. 2019 Feb;97(1):e71-e76. doi: 10.1111/aos.13817. Epub 2018 Sep 26.

PMID:
30259673
10.

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.

BMC Ophthalmol. 2018 Sep 17;18(1):250. doi: 10.1186/s12886-018-0918-8.

11.

Diamond nanoparticles suppress lateral growth of bacterial colonies.

Lišková P, Beranová J, Ukraintsev E, Fišer R, Kofroňová O, Benada O, Konopásek I, Kromka A.

Colloids Surf B Biointerfaces. 2018 Oct 1;170:544-552. doi: 10.1016/j.colsurfb.2018.06.057. Epub 2018 Jun 28.

PMID:
29975902
12.

SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1.

Kremlikova Pourova R, Paderova J, Copikova J, Kousal B, Dudakova L, Liskova P.

J AAPOS. 2018 Aug;22(4):312-314.e3. doi: 10.1016/j.jaapos.2017.12.009. Epub 2018 Mar 15.

PMID:
29551606
13.

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, Klein P, Liskova P, Dulla K, Semo M, Vugler AA, Muthusamy K, Dudakova L, Levis HJ, Skalicka P, Hysi P, Cheetham ME, Tuft SJ, Adamson P, Hardcastle AJ, Davidson AE.

Am J Hum Genet. 2018 Apr 5;102(4):528-539. doi: 10.1016/j.ajhg.2018.02.010. Epub 2018 Mar 8.

14.

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ.

Am J Hum Genet. 2018 Mar 1;102(3):447-459. doi: 10.1016/j.ajhg.2018.02.002.

15.

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

Dudakova L, Cheong SS, Merjava SR, Skalicka P, Michalickova M, Palos M, Mahelkova G, Krizova D, Hlozanek M, Trkova M, Chojnowski JL, Hrdlickova E, Pontikos N, Plagnol V, Veselá V, Jirsova K, Hardcastle AJ, Filipec M, Lauderdale JD, Liskova P.

Stem Cell Rev. 2018 Feb;14(1):148-151. doi: 10.1007/s12015-017-9780-y. No abstract available.

PMID:
29134474
16.

Design, synthesis and biological activity of N4-phenylsubstituted-7H-pyrrolo[2,3-d]pyrimidin-4-amines as dual inhibitors of aurora kinase A and epidermal growth factor receptor kinase.

Kurup S, McAllister B, Liskova P, Mistry T, Fanizza A, Stanford D, Slawska J, Keller U, Hoellein A.

J Enzyme Inhib Med Chem. 2018 Dec;33(1):74-84. doi: 10.1080/14756366.2017.1376666.

17.

Correction to: Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts.

Dudakova L, Stranecky V, Ulmanova O, Hlavova E, Trková M, Vincent AL, Liskova P.

Mol Biol Rep. 2017 Dec;44(6):441. doi: 10.1007/s11033-017-4130-3.

PMID:
29019065
18.

Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution.

Szabó DJ, Nagymihály R, Veréb Z, Josifovska N, Noer A, Liskova P, Facskó A, Moe MC, Petrovski G.

Histol Histopathol. 2018 May;33(5):455-462. doi: 10.14670/HH-11-928. Epub 2017 Sep 5.

PMID:
28872183
19.

Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56∗) CRYGD variant in a family with dominantly inherited congenital cataracts.

Dudakova L, Stranecky V, Ulmanova O, Hlavova E, Trková M, Vincent AL, Liskova P.

Mol Biol Rep. 2017 Dec;44(6):435-440. doi: 10.1007/s11033-017-4121-4. Epub 2017 Aug 28. Erratum in: Mol Biol Rep. 2017 Dec;44(6):441.

PMID:
28849415
20.

Analysis of KERA in four families with cornea plana identifies two novel mutations.

Dudakova L, Vercruyssen JHJ, Balikova I, Postolache L, Leroy BP, Skalicka P, Liskova P.

Acta Ophthalmol. 2018 Feb;96(1):e87-e91. doi: 10.1111/aos.13484. Epub 2017 Jul 5.

21.

[Blepharophimosis-ptosis-epicanthus inversus syndrome].

Lišková P, Ďuďáková Ľ, Diblík P.

Cesk Slov Oftalmol. Fall 2016;72(5):187-190. Czech.

PMID:
28224805
22.

[Preimplantation genetic diagnosis and monogenic inherited eye diseases].

Hlavatá L, Ďuďáková Ľ, Trková M, Soldátová I, Skalická P, Kousal B, Lišková P.

Cesk Slov Oftalmol. Fall 2016;72(5):167-171. Review. Czech.

PMID:
28224801
23.

Replication of SNP associations with keratoconus in a Czech cohort.

Liskova P, Dudakova L, Krepelova A, Klema J, Hysi PG.

PLoS One. 2017 Feb 16;12(2):e0172365. doi: 10.1371/journal.pone.0172365. eCollection 2017.

24.

Copper in Keratoconic Corneas.

Dudakova L, Evans CJ, Liskova P.

Cornea. 2017 Apr;36(4):e14. doi: 10.1097/ICO.0000000000001155. No abstract available.

PMID:
28129298
25.

Myxovirus Resistance Protein A mRNA Expression Kinetics in Multiple Sclerosis Patients Treated with IFNβ.

Libertinova J, Meluzinova E, Tomek A, Horakova D, Kovarova I, Matoska V, Kumstyrova S, Zajac M, Hyncicova E, Liskova P, Houzvickova E, Martinkovic L, Bojar M, Havrdova E, Marusic P.

PLoS One. 2017 Jan 12;12(1):e0169957. doi: 10.1371/journal.pone.0169957. eCollection 2017.

26.

[Gene Therapy for Inherited RETINAL AND OPTIC NERVE Disorders: Current Knowledge].

Ďuďáková Ľ, Kousal B, Kolářová H, Hlavatá L, Lišková P.

Cesk Slov Oftalmol. Fall 2016;72(4):128-136. Review. Czech.

PMID:
27860478
27.

OPA1 analysis in an international series of probands with bilateral optic atrophy.

Liskova P, Tesarova M, Dudakova L, Svecova S, Kolarova H, Honzik T, Seto S, Votruba M.

Acta Ophthalmol. 2017 Jun;95(4):363-369. doi: 10.1111/aos.13285. Epub 2016 Nov 17.

28.

Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.

Dudakova L, Palos M, Jirsova K, Skalicka P, Dundr P, Liskova P.

Ophthalmic Genet. 2016 Dec;37(4):473-474. Epub 2016 Mar 30. No abstract available.

PMID:
27028151
29.

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

Kolarova H, Liskova P, Tesarova M, Kucerova Vidrova V, Forgac M, Zamecnik J, Hansikova H, Honzik T.

Ophthalmic Genet. 2016 Dec;37(4):419-423. Epub 2016 Feb 19.

PMID:
26894521
30.

Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.

Krepelova A, Simandlova M, Vlckova M, Kuthan P, Vincent AL, Liskova P.

Clin Exp Ophthalmol. 2016 Dec;44(9):757-762. doi: 10.1111/ceo.12783. Epub 2016 Jul 1.

PMID:
27283035
31.

Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease.

Trkova M, Hynek M, Dudakova L, Becvarova V, Hlozanek M, Raskova D, Vincent AL, Liskova P.

Am J Med Genet A. 2016 Jul;170(7):1843-8. doi: 10.1002/ajmg.a.37685. Epub 2016 Jun 3.

PMID:
27256633
32.

Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.

Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P.

Graefes Arch Clin Exp Ophthalmol. 2016 Sep;254(9):1833-9. doi: 10.1007/s00417-016-3358-2. Epub 2016 Apr 25.

PMID:
27113771
33.

[Clinical Tests Testing New Therapies for Stargardt Disease].

Kousal B, Ďuďáková Ľ, Hlavatá L, Lišková P.

Cesk Slov Oftalmol. 2016 Feb;72(1):293-7. Review. Czech.

PMID:
27041285
34.

Transmembrane segments of complement receptor 3 do not participate in cytotoxic activities but determine receptor structure required for action of Bordetella adenylate cyclase toxin.

Wald T, Osickova A, Masin J, Liskova PM, Petry-Podgorska I, Matousek T, Sebo P, Osicka R.

Pathog Dis. 2016 Apr;74(3). pii: ftw008. doi: 10.1093/femspd/ftw008. Epub 2016 Jan 21.

PMID:
26802078
35.

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.

Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ.

Am J Hum Genet. 2016 Jan 7;98(1):75-89. doi: 10.1016/j.ajhg.2015.11.018. Epub 2015 Dec 31.

36.

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.

Eur J Hum Genet. 2016 Jul;24(7):985-91. doi: 10.1038/ejhg.2015.232. Epub 2015 Oct 28.

37.

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

Dudakova L, Sasaki T, Liskova P, Palos M, Jirsova K.

Histol Histopathol. 2016 Jan;31(1):63-71. doi: 10.14670/HH-11-649. Epub 2015 Jul 28.

PMID:
26218558
38.

Is copper imbalance an environmental factor influencing keratoconus development?

Dudakova L, Liskova P, Jirsova K.

Med Hypotheses. 2015 May;84(5):518-24. doi: 10.1016/j.mehy.2015.02.017. Epub 2015 Mar 2.

PMID:
25758858
39.

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.

Eur J Hum Genet. 2015 Nov;23(11):1581-3. doi: 10.1038/ejhg.2015.28. Epub 2015 Mar 4.

40.

[The molecular genetic and clinical findings in two probands with Stargardt disease].

Kousal B, Záhlava J, Vejvalková Š, Hejtmánková M, Lišková P.

Cesk Slov Oftalmol. 2014 Dec;70(6):228-33. Czech.

PMID:
25640233
41.

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.

Davidson AE, Borasio E, Liskova P, Khan AO, Hassan H, Cheetham ME, Plagnol V, Alkuraya FS, Tuft SJ, Hardcastle AJ.

Invest Ophthalmol Vis Sci. 2015 Jan 6;56(1):578-86. doi: 10.1167/iovs.14-15792.

PMID:
25564447
42.

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.

Ophthalmic Res. 2015;53(1):30-5. doi: 10.1159/000365109. Epub 2014 Dec 11.

43.

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.

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

44.

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.

Kousal B, Skalicka P, Valesova L, Fletcher T, Hart-Holden N, O'Grady A, Chakarova CF, Michaelides M, Hardcastle AJ, Liskova P.

Mol Vis. 2014 Sep 20;20:1307-17. eCollection 2014.

45.

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.

Eye (Lond). 2014 Oct;28(10):1201-5. doi: 10.1038/eye.2014.164. Epub 2014 Aug 1.

46.

Crohn's disease: is there a place for neurological screening?

Stovicek J, Liskova P, Lisy J, Hlava S, Keil R.

Scand J Gastroenterol. 2014 Feb;49(2):173-6. doi: 10.3109/00365521.2013.867358. Epub 2013 Dec 4.

PMID:
24299027
47.

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

Dudakova L, Palos M, Hardcastle AJ, Liskova P.

Ophthalmic Genet. 2014 Dec;35(4):252-4. doi: 10.3109/13816810.2013.811272. Epub 2013 Jul 8. No abstract available.

PMID:
23834557
48.

[Retinitis pigmentosa mimicking uveitis. A case report].

Szabó E, Brichová M, Lišková P, Svozílková P, Ríhová E.

Cesk Slov Oftalmol. 2013 Mar;69(1):32-6. Czech.

PMID:
23822599
49.

[Clinical findings in members of a Czech family with retinitis pigmentosa caused by the c.2426_2427delAG mutation in RPGR].

Kousal B, Skalická P, Diblík P, Kuthan P, Langrová H, Lišková P.

Cesk Slov Oftalmol. 2013 Mar;69(1):8-15. Czech.

PMID:
23822596
50.

Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.

Liskova P, Palos M, Hardcastle AJ, Vincent AL.

JAMA Ophthalmol. 2013 Oct;131(10):1296-303. doi: 10.1001/jamaophthalmol.2013.405.

PMID:
23807282

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