Radvanszky J - Search Results

1

Technical and Methodological Aspects of Cell-Free Nucleic Acids Analyzes.

Pös Z, Pös O, Styk J, Mocova A, Strieskova L, Budis J, Kadasi L, Radvanszky J, Szemes T. Pös Z, et al. Among authors: radvanszky j. Int J Mol Sci. 2020 Nov 16;21(22):8634. doi: 10.3390/ijms21228634. Int J Mol Sci. 2020. PMID: 33207777 Free PMC article. Review.

2

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

Radvanszky J, Surovy M, Polak E, Kadasi L. Radvanszky J, et al. Neuromuscul Disord. 2013 Jul;23(7):591-8. doi: 10.1016/j.nmd.2013.02.013. Epub 2013 Apr 2. Neuromuscul Disord. 2013. PMID: 23561036

3

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

Polak E, Ficek A, Radvanszky J, Soltysova A, Urge O, Cmelova E, Kantarska D, Kadasi L. Polak E, et al. Among authors: radvanszky j. Gene. 2013 Sep 10;526(2):347-55. doi: 10.1016/j.gene.2013.05.057. Epub 2013 Jun 10. Gene. 2013. PMID: 23764561

4

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

Radvanszky J, Surovy M, Nagyova E, Minarik G, Kadasi L. Radvanszky J, et al. Clin Biochem. 2015 Jun;48(9):609-16. doi: 10.1016/j.clinbiochem.2015.01.010. Epub 2015 Jan 30. Clin Biochem. 2015. PMID: 25641335

5

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A. Nemethova M, et al. Among authors: radvanszky j. Eur J Hum Genet. 2016 Jan;24(1):66-72. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25. Eur J Hum Genet. 2016. PMID: 25804398 Free PMC article.

6

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

Surovy M, Soltysova A, Kolnikova M, Sykora P, Ilencikova D, Ficek A, Radvanszky J, Kadasi L. Surovy M, et al. Among authors: radvanszky j. Gen Physiol Biophys. 2016 Jul;35(3):333-42. doi: 10.4149/gpb_2016002. Epub 2016 Apr 5. Gen Physiol Biophys. 2016. PMID: 27045673

7

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

Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T. Radvanszky J, et al. Clin Genet. 2017 Feb;91(2):339-343. doi: 10.1111/cge.12840. Epub 2016 Sep 29. Clin Genet. 2017. PMID: 27452416

8

Dante: genotyping of known complex and expanded short tandem repeats.

Budiš J, Kucharík M, Ďuriš F, Gazdarica J, Zrubcová M, Ficek A, Szemes T, Brejová B, Radvanszky J. Budiš J, et al. Among authors: radvanszky j. Bioinformatics. 2019 Apr 15;35(8):1310-1317. doi: 10.1093/bioinformatics/bty791. Bioinformatics. 2019. PMID: 30203023

9

Combining count- and length-based z-scores leads to improved predictions in non-invasive prenatal testing.

Budis J, Gazdarica J, Radvanszky J, Szucs G, Kucharik M, Strieskova L, Gazdaricova I, Harsanyova M, Duris F, Minarik G, Sekelska M, Nagy B, Turna J, Szemes T. Budis J, et al. Among authors: radvanszky j. Bioinformatics. 2019 Apr 15;35(8):1284-1291. doi: 10.1093/bioinformatics/bty806. Bioinformatics. 2019. PMID: 30219853

10

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

Kubiritova Z, Gyuraszova M, Nagyova E, Hyblova M, Harsanyova M, Budis J, Hekel R, Gazdarica J, Duris F, Kadasi L, Szemes T, Radvanszky J. Kubiritova Z, et al. Among authors: radvanszky j. J Biotechnol. 2019 Jun 10;298:64-75. doi: 10.1016/j.jbiotec.2019.04.013. Epub 2019 Apr 15. J Biotechnol. 2019. PMID: 30998956

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