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recurrent mutations
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prof. MUDr. Martin Filipec CSc.
Academic staff at First Faculty of Medicine
280 publications
Publications
publication
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
2024 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4
2018 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Laboratory diagnostics in ophthalmology
2013 |
First Faculty of Medicine
publication
High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation
2012 |
First Faculty of Medicine
publication
Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene
2010 |
First Faculty of Medicine
publication
Matrix metalloproteinases in recurrent corneal melting associated with primary Sjörgen's syndrome
2009 |
First Faculty of Medicine
publication
Ocular surface injuries in autoimmune dry eye. The severity of microscopical disturbances goes parallel with the severity of symptoms of dryness
2009 |
First Faculty of Medicine
publication
A rapid separation of two distinct populations of mouse corneal epithelial cells with limbal stem cell characteristics by centrifugation on percoll gradient
2008 |
First Faculty of Medicine
publication
Phenotype Associated with the H626P Mutation and Other Changes in the TGFBI Gene in Czech Families
2008 |
First Faculty of Medicine
publication
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation
2008 |
First Faculty of Medicine
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