Ivana Jedlickova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 14 publications

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.

Journal: Human mutation

Published: August 05, 2025

Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.

Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.

Journal: Genes, brain, and behavior

Published: May 19, 2023

Adipose tissue-specific ablation of PGC-1β impairs thermogenesis in brown fat.

Adipose tissue-specific ablation of PGC-1β impairs thermogenesis in brown fat.

Journal: Disease models & mechanisms

Published: July 29, 2021

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.

Journal: Life science alliance

Published: July 07, 2021

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

Journal: Annals of clinical and translational neurology

Published: November 25, 2020

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.

Journal: Kidney international

Published: April 23, 2020

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.

Journal: Journal of neuropathology and experimental neurology

Published: January 31, 2020

Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.

Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.

Journal: Molecular genetics & genomic medicine

Published: November 14, 2019

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.

Journal: European journal of human genetics : EJHG

Published: May 03, 2019

Rare copy number variation in extremely impulsively violent males.

Rare copy number variation in extremely impulsively violent males.

Journal: Genes, brain, and behavior

Published: July 10, 2018

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion.

Journal: Neurology

Published: July 13, 2017

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Journal: Human molecular genetics

Published: May 19, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026