Glutathione S-transferase polymorphisms influence the level of oxidative DNA damage and antioxidant protection in humans

Mária Dušinská, Andrej Ficek, Alexandra Horská, +13

Mutation research. Fundamental and molecular mechanisms of mutagenesis

Oxidative Dna DamageGeneticsLipid PeroxidationHuman PolymorphismToxicology +7

High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).

Gabriel Minárik, V. Ferák, Eva Feráková, +3

PubMed

Carrier FrequencyGjb2 Mutation W24xMendelian DisorderGenetic DisorderGenetics +11

RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

Julia Etzler, Andreas Peyrl, Andrea Zaťková, +10

Human Mutation

EngineeringGeneticsRna SplicingMolecular BiologyPathology +17

Polymorphisms of candidate genes in Slovak autistic patients

Silvia Kelemenová, Eva Schmidtová, Andrej Ficek, +3

Psychiatric Genetics

Candidate GenesPsychiatrySyndromic AutismGeneticsStr Polymorphism +11

Effect of Unexpected Sequence Interruptions to Conventional PCR and Repeat Primed PCR in Myotonic Dystrophy Type 1 Testing

Ján Radvánský, Andrej Ficek, Gabriel Minárik, +2

Diagnostic Molecular Pathology

GeneticsDiagnosisPathologyMolecular BiologyConventional Pcr +18

Phenylalanine hydroxylase deficiency in the Slovak population: Genotype–phenotype correlations and genotype-based predictions of BH4-responsiveness

Emil Polák, Andrej Ficek, Ján Radvánszky, +5

Gene

BiochemistryGenetic DisorderMedicineGeneticsInherited Metabolic Disease +5

Mathematical modeling based on RT-qPCR analysis of SARS-CoV-2 in wastewater as a tool for epidemiology

Naďa Krivoňáková, Andrea Šoltýsová, Michal Tamáš, +12

Scientific Reports

Polymorphisms in Genes Involved in Testosterone Metabolism in Slovak Autistic Boys

Eva Schmidtová, Silvia Kelemenová, Peter Celec, +2

The Endocrinologist

Slovak Autistic BoysAndrogen ReceptorAutism Spectrum DisordersGeneticsHuman Polymorphism +14

A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients

Daniela Kluckova, Miriam Kolníková, Ľubica Lacinová, +6

Scientific Reports

Upgrading molecular diagnostics of myotonic dystrophies: Multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs

Ján Radvánský, Andrej Ficek, Ľudevít Kádaši

Molecular and Cellular Probes

EngineeringMendelian DisorderMedicineGeneticsZnf9 Repeat Motifs +8