Jana Jedlickova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 13 publications

Exploring National Support Mechanisms for European Reference Network Centres.

Exploring National Support Mechanisms for European Reference Network Centres.

Journal: European journal of medical genetics

Published: May 20, 2026

Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants.

Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants.

Journal: Ophthalmic genetics

Published: January 22, 2026

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.

Journal: Genes

Published: May 10, 2024

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

Journal: International journal of molecular sciences

Published: February 12, 2024

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

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

Journal: PLoS genetics

Published: November 03, 2023

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

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

Journal: Human mutation

Published: October 17, 2023

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.

Journal: Clinical genetics

Published: March 29, 2023

PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE.

PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE.

Journal: Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti

Published: October 11, 2022

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

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

Journal: Acta ophthalmologica

Published: August 15, 2022

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

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

Journal: Journal of clinical medicine

Published: July 28, 2022

Axenfeld-Rieger syndrome: more than meets the eye.

Axenfeld-Rieger syndrome: more than meets the eye.

Journal: Journal of medical genetics

Published: April 22, 2022

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

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

Journal: Acta ophthalmologica

Published: November 17, 2021

Showing 1-12 of 13

Last Updated: 09/26/2026