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Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development

Frontiers in neuroscience, 2022-03, Vol.16, p.817713-817713

2022

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Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

Scientific reports, 2017-12, Vol.7 (1), p.16697-9, Article 16697

2017

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Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms

Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia, 2022-03, Vol.166 (1), p.63-67

2022

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Lewy body disease or diseases with Lewy bodies?

NPJ Parkinson's Disease, 2022-01, Vol.8 (1), p.3-3, Article 3

2022

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Atypical parkinsonism of progressive supranuclear palsy–parkinsonism (PSP-P) phenotype with rare variants in FBXO7 and VPS35 genes associated with Lewy body pathology

Acta neuropathologica, 2019-01, Vol.137 (1), p.171-173

2019

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Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing

Diagnostics (Basel), 2022-04, Vol.12 (5), p.1060

2022

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High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic

Life (Basel, Switzerland), 2022-01, Vol.12 (1), p.121

2022

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Arrhythmogenic potential in Turner syndrome patients

Cor et vasa (English ed.), 2023-09, Vol.65 (4), p.582-588

2023

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Risk Minimization of Hemolytic Disease of the Fetus and Newborn Using Droplet Digital PCR Method for Accurate Fetal Genotype Assessment of RHD , KEL , and RHCE from Cell-Free Fetal DNA of Maternal Plasma

Diagnostics (Basel), 2021-04, Vol.11 (5), p.803

2021

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Generation of human iPSCs from fetal prostate fibroblasts HPrF

Stem cell research, 2019-03, Vol.35, p.101405, Article 101405

2019

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New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background

Medicine (Baltimore), 2018-09, Vol.97 (38), p.e12313-e12313

2018

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Generation of human iPSCs from human prostate cancer-associated fibroblasts IBPi002-A

Stem cell research, 2018-12, Vol.33, p.255-259

2018

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STAT6 - polymorphisms, haplotypes and epistasis in relation to atopy and asthma

Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia, , Vol.157 (2), p.172-180

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Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus

Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia, 2017-09, Vol.161 (3), p.326-329

2017

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Familial, autosomal-dominant neurodegenerative parkinsonism with cognitive deterioration spanning five generations in a genetically isolated population of south-eastern Moravia, Czech Republic

Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia, 2016-03, Vol.160 (1), p.158-160

2016

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Clinical impact of variants in non-coding regions of SHOX – Current knowledge

Gene, 2022-04, Vol.818, p.146238-146238, Article 146238

2022

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Fetal heart rhabdomyomatosis: a single-center experience

The journal of maternal-fetal & neonatal medicine, 2021-03, Vol.34 (5), p.701-707

2021

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Endemic parkinsonism: clusters, biology and clinical features

Nature reviews. Neurology, 2023-10, Vol.19 (10), p.599-616

2023

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Reply to: Questioning the cycad theory of Kii ALS-PDC causation

Nature reviews. Neurology, 2024-03, Vol.20 (3), p.195-196

2024

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Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features

Hormone research in paediatrics, 2022-11, Vol.95 (5), p.465-475

2022

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NAD(P)H:quinone oxidoreductase 1 NQO12 genotype (P187S) is a strong prognostic and predictive factor in breast cancer

Nature genetics, 2008-07, Vol.40 (7), p.844-853

2008

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DNA damage signalling barrier, oxidative stress and treatment-relevant DNA repair factor alterations during progression of human prostate cancer

Molecular oncology, 2016-06, Vol.10 (6), p.879-894

2016

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Familial atypical parkinsonism with rare variant in VPS35 and FBXO7 genes: A case report

Medicine (Baltimore), 2016-11, Vol.95 (46), p.e5398-e5398

2016

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Reply: Matters Arising ‘Lewy body disease or diseases with Lewy bodies?’

NPJ Parkinson's Disease, 2022-06, Vol.8 (1), p.80-80, Article 80

2022

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Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development

Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms

Lewy body disease or diseases with Lewy bodies?

Atypical parkinsonism of progressive supranuclear palsy–parkinsonism (PSP-P) phenotype with rare variants in FBXO7 and VPS35 genes associated with Lewy body pathology

Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing

High-Throughput Sequencing Haplotype Analysis Indicates in LRRK2 Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic

Arrhythmogenic potential in Turner syndrome patients

Risk Minimization of Hemolytic Disease of the Fetus and Newborn Using Droplet Digital PCR Method for Accurate Fetal Genotype Assessment of RHD , KEL , and RHCE from Cell-Free Fetal DNA of Maternal Plasma

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

Generation of human iPSCs from fetal prostate fibroblasts HPrF

New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background

Generation of human iPSCs from human prostate cancer-associated fibroblasts IBPi002-A

STAT6 - polymorphisms, haplotypes and epistasis in relation to atopy and asthma

Single giant mediastinal rhabdomyoma as a sole manifestation of TSC in foetus

Familial, autosomal-dominant neurodegenerative parkinsonism with cognitive deterioration spanning five generations in a genetically isolated population of south-eastern Moravia, Czech Republic

Clinical impact of variants in non-coding regions of SHOX – Current knowledge

Fetal heart rhabdomyomatosis: a single-center experience

Endemic parkinsonism: clusters, biology and clinical features

Reply to: Questioning the cycad theory of Kii ALS-PDC causation

Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features

NAD(P)H:quinone oxidoreductase 1 NQO12 genotype (P187S) is a strong prognostic and predictive factor in breast cancer

DNA damage signalling barrier, oxidative stress and treatment-relevant DNA repair factor alterations during progression of human prostate cancer

Familial atypical parkinsonism with rare variant in VPS35 and FBXO7 genes: A case report

Reply: Matters Arising ‘Lewy body disease or diseases with Lewy bodies?’

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