Ľudevit Lajos Kádasi

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Reconstructing Roma History from Genome-Wide Data

Priya G. Moorjani, Nick Patterson, +8 authors David Reich
PloS one
2013

The Roma people, living throughout Europe and West Asia, are a diverse population linked by the Romani language and culture. Previous linguistic and genetic studies have suggested that the Roma… (More)

Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing.

Ján Radvánský, Andrej Ficek, Gabriel Minárik, Roland Pálffy, Ľudevit Lajos Kádasi
Diagnostic molecular pathology : the American…
2011

Myotonic dystrophy type 1 (DM1) is caused by expansion of the CTG trinucleotide repeat in the DMPK gene. Our study focuses on the effect of recently described unusual sequence interruptions inside… (More)

Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

Martina Nemethova, Anna Bolcekova, +6 authors Andrea Zatkova
Annals of human genetics
2013

We performed a complex analysis of the neurofibromatosis type 1 (NF1) gene in Slovakia based on direct cDNA sequencing supplemented by multiple ligation dependent probe amplification (MLPA) analysis.… (More)

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

Emil Polák, Andrej Ficek, +5 authors Ľudevit Lajos Kádasi
Gene
2013

We investigated the mutation spectrum of the phenylalanine hydroxylase gene (PAH) in a cohort of patients from 135 Slovak PKU families. Mutational screening of the known coding region, including… (More)

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

Clint Mizzi, Eleni Dalabira, +47 authors George P. Patrinos
PloS one
2016

Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and… (More)

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

Ján Radvánský, Andrej Ficek, Ľudevit Lajos Kádasi
Molecular and cellular probes
2011

Myotonic dystrophy (DM) is a common neuromuscular disorder comprising at least two genetically different forms. DM1 is caused by expansion of a (CTG)(n) repeat in the DMPK gene, while DM2 is caused… (More)

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.

Ján Radvánszky, Michaela Hýblová, +6 authors Tomáš Szemeš
Clinical genetics
2017

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GTPTS) are clinically similar disorders with some overlapping features. Although they are currently considered to be… (More)

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Andrea Zatkova, Tatiana Sedláčková, +6 authors Ľudevit Lajos Kádasi
JIMD reports
2012

Enzymatic loss in alkaptonuria (AKU), an autosomal recessive disorder, is caused by mutations in the homogentisate 1,2 dioxygenase (HGD) gene, which decrease or completely inactivate the function of… (More)

Salmonella-mediated gene therapy in experimental colitis in mice.

Roland Pálffy, Roman Gardlik, +5 authors Peter Celec
Experimental biology and medicine
2011

Bacterial gene therapy - bactofection is a simple and effective method to deliver plasmid DNA into target tissue. We hypothesize that oral in vivo bactofection can be an interesting approach to… (More)

Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss.

Gabriel Minárik, Denisa Tretinárová, Tomáš Szemeš, Ľudevit Lajos Kádasi
International journal of pediatric…
2012

OBJECTIVES Non-syndromic hearing loss is one of the most common genetically determined diseases in human. The incidence is approximately 1:700 and most of the cases are caused by mutations in… (More)

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