עקוב אחר
Lubica Dudakova, PhD
Lubica Dudakova, PhD
כתובת אימייל מאומתת בדומיין lf1.cuni.cz
כותרת
צוטט על ידי
צוטט על ידי
שנה
Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas
L Dudakova, P Liskova, T Trojek, M Palos, S Kalasova, K Jirsova
Experimental eye research 104, 74-81, 2012
1192012
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
M Khan, SS Cornelis, MD Pozo-Valero, L Whelan, EH Runhart, K Mishra, ...
Genetics in Medicine 22 (7), 1235-1246, 2020
1072020
Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2
AE Davidson, P Liskova, CJ Evans, L Dudakova, L Noskova, N Pontikos, ...
The American Journal of Human Genetics 98 (1), 75-89, 2016
792016
Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity
C Zarouchlioti, B Sanchez-Pintado, NJH Tear, P Klein, P Liskova, K Dulla, ...
The American Journal of Human Genetics 102 (4), 528-539, 2018
732018
Ectopic GRHL2 expression due to non-coding mutations promotes cell state transition and causes posterior polymorphous corneal dystrophy 4
P Liskova, L Dudakova, CJ Evans, KER Lopez, N Pontikos, D Athanasiou, ...
The American Journal of Human Genetics 102 (3), 447-459, 2018
472018
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus
AJ Hardcastle, P Liskova, Y Bykhovskaya, BJ McComish, AE Davidson, ...
Communications Biology 4 (1), 266, 2021
462021
Validation of rs2956540: G> C and rs3735520: G> A association with keratoconus in a population of European descent
L Dudakova, M Palos, K Jirsova, V Stranecky, A Krepelova, PG Hysi, ...
European Journal of Human Genetics 23 (11), 1581-1583, 2015
462015
The impairment of lysyl oxidase in keratoconus and in keratoconus-associated disorders
L Dudakova, K Jirsova
Journal of Neural Transmission 120, 977-982, 2013
462013
The OV-TL 12/30 clone of anti-cytokeratin 7 antibody as a new marker of corneal conjunctivalization in patients with limbal stem cell deficiency
K Jirsova, L Dudakova, S Kalasova, V Vesela, S Merjava
Investigative ophthalmology & visual science 52 (8), 5892-5898, 2011
442011
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
P Liskova, CJ Evans, AE Davidson, M Zaliova, L Dudakova, M Trkova, ...
European Journal of Human Genetics 24 (7), 985-991, 2016
412016
Replication of SNP associations with keratoconus in a Czech cohort
P Liskova, L Dudakova, A Krepelova, J Klema, PG Hysi
PLoS One 12 (2), e0172365, 2017
342017
Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3
CJ Evans, P Liskova, L Dudakova, P Hrabcikova, A Horinek, K Jirsova, ...
Annals of human genetics 79 (1), 1-9, 2015
332015
Axenfeld-Rieger syndrome: more than meets the eye
LM Reis, M Maheshwari, J Capasso, H Atilla, L Dudakova, S Thompson, ...
Journal of medical genetics 60 (4), 368-379, 2023
312023
The presence of lysyl oxidase-like enzymes in human control and keratoconic corneas
L Dudakova, T Sasaki, P Liskova, M Palos, K Jirsova
Universidad de Murcia. Departamento de Biología Celular e Histología, 2016
272016
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants
B Kousal, L Dudakova, R Gaillyova, M Hejtmankova, P Diblik, ...
Graefe's Archive for Clinical and Experimental Ophthalmology 254, 1833-1839, 2016
242016
Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty
P Skalicka, L Dudakova, M Palos, LJ Huna, CJ Evans, G Mahelkova, ...
Acta Ophthalmologica 97 (7), e987-e992, 2019
202019
IPSC-derived corneal endothelial-like cells act as an appropriate model system to assess the impact of SLC4A11 variants on pre-mRNA splicing
K Brejchova, L Dudakova, P Skalicka, R Dobrovolny, P Masek, M Putzova, ...
Investigative Ophthalmology & Visual Science 60 (8), 3084-3090, 2019
162019
Macular corneal dystrophy and associated corneal thinning
L Dudakova, M Palos, M Svobodova, J Bydzovsky, L Huna, K Jirsova, ...
Eye 28 (10), 1201-1205, 2014
152014
Is copper imbalance an environmental factor influencing keratoconus development?
L Dudakova, P Liskova, K Jirsova
Medical Hypotheses 84 (5), 518-524, 2015
142015
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
L Dudakova, CJ Evans, N Pontikos, NJ Hafford-Tear, F Malinka, ...
Experimental eye research 182, 160-166, 2019
132019
המערכת אינה יכולה לבצע את הפעולה כעת. נסה שוב מאוחר יותר.
מאמרים 1–20