Ludevit Kadasi

Ludevit Kadasi

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Ludevit Kadasi

Ludevit Kadasi

Publications by authors named "Ludevit Kadasi"

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36Publications

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On the critical evaluation and confirmation of germline sequence variants identified using massively parallel sequencing.

J Biotechnol 2019 Jun 15;298:64-75. Epub 2019 Apr 15.

Institute for Clinical and Translational Research, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia; Geneton Ltd., Bratislava, Slovakia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01681656193012
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http://dx.doi.org/10.1016/j.jbiotec.2019.04.013DOI Listing
June 2019

Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.

Genes (Basel) 2019 06 15;10(6). Epub 2019 Jun 15.

Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovakia.

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http://dx.doi.org/10.3390/genes10060459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6628251PMC
June 2019

Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.

Clin Respir J 2018 Mar 5;12(3):1197-1206. Epub 2017 Jun 5.

Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Mlynska dolina Bratislava 842 15, Slovakia.

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http://doi.wiley.com/10.1111/crj.12651
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http://dx.doi.org/10.1111/crj.12651DOI Listing
March 2018

Detection of mitochondrial haplogroups in a small avar-slavic population from the eigth-ninth century AD.

Am J Phys Anthropol 2018 03 18;165(3):536-553. Epub 2018 Jan 18.

Department of Anthropology, Faculty of Natural Sciences, Comenius University, Mlynska Dolina, Ilkovicova 6, Bratislava 842 15, Slovak Republic.

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http://dx.doi.org/10.1002/ajpa.23380DOI Listing
March 2018

Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.

Gen Physiol Biophys 2017 Oct 27;36(4):361-371. Epub 2017 Jun 27.

Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Ilkovicova 6, 842 15 Bratislava, Slovakia.

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http://dx.doi.org/10.4149/gpb_2017003DOI Listing
October 2017

The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.

Gen Physiol Biophys 2017 Apr 2;36(2):205-210. Epub 2017 Feb 2.

Department of Molecular Biology, Comenius University, Faculty of Natural Sciences, Mlynska dolina, Ilkovicova 6, 842 15 Bratislava, Slovakia.

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http://dx.doi.org/10.4149/gpb_2016032DOI Listing
April 2017

Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection.

Gen Physiol Biophys 2016 Jul 5;35(3):333-42. Epub 2016 Apr 5.

Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Mlynska dolina Bratislava, 842 15 Slovak Republic.

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http://dx.doi.org/10.4149/gpb_2016002DOI Listing
July 2016

Comparison of different DNA binding fluorescent dyes for applications of high-resolution melting analysis.

Clin Biochem 2015 Jun 30;48(9):609-16. Epub 2015 Jan 30.

Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Vlarska 5, 833 34 Bratislava, Slovakia; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Mlynska dolina, 842 15 Bratislava 4, Slovakia.

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https://linkinghub.elsevier.com/retrieve/pii/S00099120150003
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http://dx.doi.org/10.1016/j.clinbiochem.2015.01.010DOI Listing
June 2015

Genetics and genomic medicine in Slovakia.

Mol Genet Genomic Med 2015 Jan;3(1):8-13

Department of Medical Genetics, Faculty Hospital Žilina, Slovakia.

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http://dx.doi.org/10.1002/mgg3.122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299710PMC
January 2015

[Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report].

Orv Hetil 2014 Aug;155(33):1325-8

"Genetikai Ártalmak Társadalmi Megelőzése" Alapítvány Genetikai Tanácsadó Budapest.

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http://dx.doi.org/10.1556/OH.2014.29960DOI Listing
August 2014

Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence.

Ann Hum Genet 2014 May 12;78(3):155-64. Epub 2014 Feb 12.

Department of Biotechnology & Genetic Engineering, Bharathidasan University, Tiruchirapalli, Tamil Nadu, India.

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http://dx.doi.org/10.1111/ahg.12055DOI Listing
May 2014

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

Ann Hum Genet 2013 Sep 12;77(5):364-79. Epub 2013 Jun 12.

Laboratory of Genetics, Institute of Molecular Physiology and Genetics, Bratislava, Slovakia.

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http://dx.doi.org/10.1111/ahg.12026DOI Listing
September 2013

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

Gene 2013 Sep 10;526(2):347-55. Epub 2013 Jun 10.

Comenius University, Faculty of Natural Sciences, Department of Molecular Biology, Mlynska Dolina, 842 15 Bratislava, Slovak Republic.

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http://dx.doi.org/10.1016/j.gene.2013.05.057DOI Listing
September 2013

Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus.

Neuromuscul Disord 2013 Jul 2;23(7):591-8. Epub 2013 Apr 2.

Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Vlarska 5, 833 34 Bratislava, Slovakia.

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http://dx.doi.org/10.1016/j.nmd.2013.02.013DOI Listing
July 2013

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

JIMD Rep 2012 20;4:55-65. Epub 2011 Oct 20.

Laboratory of Genetics, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Vlarska 5, 833 34, Bratislava, Slovakia,

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http://dx.doi.org/10.1007/8904_2011_68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509877PMC
February 2013

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

Int J Pediatr Otorhinolaryngol 2012 Mar 26;76(3):400-3. Epub 2012 Jan 26.

Institute of Molecular Biomedicine, Comenius University Faculty of Medicine, Bratislava, Slovakia.

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http://dx.doi.org/10.1016/j.ijporl.2011.12.020DOI Listing
March 2012

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

Mol Cell Probes 2011 Aug 4;25(4):182-5. Epub 2011 May 4.

Department of Molecular Biology, Comenius University, Mlynska dolina, Bratislava, Slovakia.

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http://linkinghub.elsevier.com/retrieve/pii/S089085081100030
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http://dx.doi.org/10.1016/j.mcp.2011.04.006DOI Listing
August 2011

APEX microarray panel for genotyping polymorphisms in cancer chemotherapy and estimation frequencies in a Slovak population.

Pharmacogenomics 2011 Apr;12(4):577-92

Department of Molecular Biology, Faculty of Natural Sciences, Comenius University in Bratislava, Mlynská dolina, 842 15 Bratislava 4, Slovakia.

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http://dx.doi.org/10.2217/pgs.10.199DOI Listing
April 2011

Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing.

Genet Test Mol Biomarkers 2011 Mar 4;15(3):133-6. Epub 2011 Jan 4.

Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.

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http://dx.doi.org/10.1089/gtmb.2010.0127DOI Listing
March 2011

Salmonella-mediated gene therapy in experimental colitis in mice.

Exp Biol Med (Maywood) 2011 Feb;236(2):177-83

Insitute of Molecular Biomedicine, Comenius University, Bratislava, Slovak Republic.

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http://dx.doi.org/10.1258/ebm.2010.010277DOI Listing
February 2011

Development of high-resolution melting (HRM) analysis for population studies of Fascioloides magna (Trematoda: Fasciolidae), the giant liver fluke of ruminants.

Parasitol Res 2011 Jan 22;108(1):201-9. Epub 2010 Oct 22.

Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Mlynská dolina, 842 15 Bratislava, Slovakia.

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http://link.springer.com/content/pdf/10.1007/s00436-010-2057
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http://link.springer.com/10.1007/s00436-010-2057-x
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http://dx.doi.org/10.1007/s00436-010-2057-xDOI Listing
January 2011

The expanding world of myotonic dystrophies: how can they be detected?

Genet Test Mol Biomarkers 2010 Dec 12;14(6):733-41. Epub 2010 Oct 12.

Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia Republic.

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http://dx.doi.org/10.1089/gtmb.2010.0073DOI Listing
December 2010

High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism.

Anal Biochem 2010 Mar 10;398(1):126-8. Epub 2009 Nov 10.

Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, 842 15 Bratislava 4, Slovakia.

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http://dx.doi.org/10.1016/j.ab.2009.11.005DOI Listing
March 2010

On the physiology and pathophysiology of antimicrobial peptides.

Mol Med 2009 Jan-Feb;15(1-2):51-9. Epub 2008 Nov 10.

BiomeD Research and Publishing Group, Bratislava, Slovak Republic.

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http://dx.doi.org/10.2119/molmed.2008.00087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2583110PMC
February 2009

A database of mitochondrial DNA hypervariable regions I and II sequences of individuals from Slovakia.

Forensic Sci Int Genet 2008 Sep 14;2(4):e53-9. Epub 2008 Feb 14.

Department of Forensic Biology and DNA Analyse, Institute of Forensic Science of Police Corps, Bratislava, Slovak Republic.

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http://dx.doi.org/10.1016/j.fsigen.2007.12.008DOI Listing
September 2008