Pavlína Skalická

Charles University

Czech Republic

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Articles (15)

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2024

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2024

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2023

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2023

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2022

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2022

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2022

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2022

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2021

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2021

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2021

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2021

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2021

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2020

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2020

Collaborators (15)

Katerina Jirsova

Charles University

CZECH REPUBLIC

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Valeria Lo Faro

University Medical Center Groningen

NETHERLANDS

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Stephen Tuft

University College London

UNITED KINGDOM

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Christopher Inglehearn

University of Leeds

UNITED KINGDOM

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Mark Simcoe

University College London

UNITED KINGDOM

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Lenka Noskova

Charles University

CZECH REPUBLIC

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Alice Davidson

Professor of Molecular Genetics

University College London

UNITED KINGDOM

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Olga Ulmanová

General Faculty Hospital, 1st Medical Faculty of Charles University

CZECH REPUBLIC

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Petra Liskova

Charles University in Prague

CZECH REPUBLIC

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Michael Cheetham

University College London

UNITED KINGDOM

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Jessica Chong

University of Washington

UNITED STATES

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Alison Hardcastle

University College London

UNITED KINGDOM

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Hana Hartmannova

Charles University

CZECH REPUBLIC

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Lubica Dudakova

Charles University

CZECH REPUBLIC

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Thomas Müller

Medical University of Innsbruck

AUSTRIA

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Pavlína Skalická

Research Interests

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Articles (15)

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.

Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.

Novel disease‐causing variants and phenotypic features of X‐linked megalocornea

Presence of Protease Inhibitor 9 and Granzyme B in Healthy and Pathological Human Corneas.

Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.

Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.

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

The micronucleus cytome assay - A fast tool for DNA damage screening in human conjunctival epithelial cells.

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel <i>PRSS56</i> Variant.

Dupilumab therapy in a patient with atopic dermatitis and severe atopic keratoconjunctivitis.

Collaborators (15)

Katerina Jirsova

Valeria Lo Faro

Stephen Tuft

Christopher Inglehearn

Mark Simcoe

Lenka Noskova

Alice Davidson

Olga Ulmanová

Petra Liskova

Michael Cheetham

Jessica Chong

Alison Hardcastle

Hana Hartmannova

Lubica Dudakova

Thomas Müller

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