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DNA mutation motifs in the genes associated with inherited diseases

PloS one, 2017-08, Vol.12 (8), p.e0182377-e0182377

2017

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Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis

Journal of medical genetics, 2024-08, Vol.61 (9), p.908-913

2024

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Malignant hyperthermia in Czechia and Slovakia

British journal of anaesthesia : BJA, 2022-08, Vol.129 (2), p.e41-e43

2022

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Inherited ichthyoses: molecular causes of the disease in Czech patients

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.92-92, Article 92

2019

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CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel

PloS one, 2013-12, Vol.8 (12), p.e82549-e82549

2013

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Genetic findings in Czech patients with limb girdle muscular dystrophy

Clinical genetics, 2023-11, Vol.104 (5), p.542-553

2023

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Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact

Frontiers in genetics, 2020-06, Vol.11, p.691-691

2020

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Bending of DNA duplexes with mutation motifs

DNA research, 2019-08, Vol.26 (4), p.341-352

2019

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Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation

Epilepsy & behavior, 2022-03, Vol.128, p.108564-108564, Article 108564

2022

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Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor

Atherosclerosis, 2016-07, Vol.250, p.9-14

2016

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The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype–phenotype correlations

Atherosclerosis, 2012-08, Vol.223 (2), p.401-408

2012

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Computational study of missense mutations in phenylalanine hydroxylase

Journal of molecular modeling, 2015-04, Vol.21 (4), p.70-70, Article 70

2015

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Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic

Diagnostics (Basel), 2021-05, Vol.11 (6), p.983

2021

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The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families

Prague medical report, 2018-01, Vol.119 (4), p.156-164

2018

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Hyperphenylalaninemia in the Czech Republic: Genotype–phenotype correlations and in silico analysis of novel missense mutations

Clinica chimica acta, 2013-04, Vol.419, p.1-10

2013

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Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

Journal of neuromuscular diseases, 2020-01, Vol.7 (2), p.153-166

2020

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The logarithm of the triglyceride/HDL-cholesterol ratio is related to the history of cardiovascular disease in patients with familial hypercholesterolemia

Clinical biochemistry, 2012-01, Vol.45 (1-2), p.96-100

2012

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An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia

Atherosclerosis, 2011-05, Vol.216 (1), p.139-145

2011

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Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

BMC neurology, 2014-08, Vol.14 (1), p.154-154, Article 154

2014

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Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

BMC medical genetics, 2010-07, Vol.11 (1), p.115-115, Article 115

2010

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Molecular genetic diagnostics of childhood muscular dystrophies

Neurologie pro praxi, 2022-03, Vol.23 (1), p.50-53

2022

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A combined approach for the study of histone deacetylase inhibitors

Molecular bioSystems, 2012-11, Vol.8 (11), p.2937-2945

2012

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Limb-girdle muscular dystrophies

Neurologie pro praxi, 2021-04, Vol.22 (2), p.100-103

2021

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Chimeric CYP21A1P / CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia

European journal of medical genetics, 2011-03, Vol.54 (2), p.112-117

2011

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Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases

Pediatrics (Evanston), 2012-02, Vol.129 (2), p.e523-e528

2012

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DNA mutation motifs in the genes associated with inherited diseases

Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis

Malignant hyperthermia in Czechia and Slovakia

Inherited ichthyoses: molecular causes of the disease in Czech patients

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel

Genetic findings in Czech patients with limb girdle muscular dystrophy

Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact

Bending of DNA duplexes with mutation motifs

Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation

Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor

The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype–phenotype correlations

Computational study of missense mutations in phenylalanine hydroxylase

Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic

The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families

Hyperphenylalaninemia in the Czech Republic: Genotype–phenotype correlations and in silico analysis of novel missense mutations

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

The logarithm of the triglyceride/HDL-cholesterol ratio is related to the history of cardiovascular disease in patients with familial hypercholesterolemia

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia

Molecular genetic diagnostics of childhood muscular dystrophies

A combined approach for the study of histone deacetylase inhibitors

Limb-girdle muscular dystrophies

Chimeric CYP21A1P / CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia

Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases

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