Petra Lišková researcher
Lišková, Petra
VIAF ID: 305104708 (Personal)
Permalink: http://viaf.org/viaf/305104708
Preferred Forms
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- 100 0 _ ‡a Petra Lišková ‡c researcher
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Works
Title | Sources |
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Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. | |
Analysis of KERA in four families with cornea plana identifies two novel mutations. | |
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2 | |
British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene. | |
Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years | |
Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus | |
Changes in lysyl oxidase (LOX) distribution and its decreased activity in keratoconus corneas | |
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders | |
Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA. | |
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat | |
Descemet membrane endothelial keratoplasty with a stromal rim (DMEK-S) | |
Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation. | |
Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies | |
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4. | |
Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers | |
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes | |
Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization. | |
Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients | |
Is copper imbalance an environmental factor influencing keratoconus development? | |
Keratoconus in 18 pairs of twins. | |
Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome). | |
Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family. | |
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation. | |
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus | |
Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder. | |
Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient. | |
OPA1 analysis in an international series of probands with bilateral optic atrophy. | |
Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty | |
Peripapillary microcirculation in Leber hereditary optic neuropathy | |
Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families | |
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. | |
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease | |
Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes theVSX1Gene | |
The presence of lysyl oxidase-like enzymes in human control and keratoconic corneas | |
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant | |
Role of matrix metalloproteinases in recurrent corneal melting | |
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1. | |
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation | |
Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5. | |
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis | |
Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent | |
Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene |