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Items: 1 to 20 of 36

1.

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

Pecimonova M, Kluckova D, Csicsay F, Reblova K, Krahulec J, Procházkova D, Skultety L, Kadasi L, Soltysova A.

Genes (Basel). 2019 Jun 15;10(6). pii: E459. doi: 10.3390/genes10060459.

2.

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.

J Biotechnol. 2019 Jun 10;298:64-75. doi: 10.1016/j.jbiotec.2019.04.013. Epub 2019 Apr 15.

PMID:
30998956
3.

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

Šebest L, Baldovič M, Frtús A, Bognár C, Kyselicová K, Kádasi Ľ, Beňuš R.

Am J Phys Anthropol. 2018 Mar;165(3):536-553. doi: 10.1002/ajpa.23380. Epub 2018 Jan 18.

PMID:
29345305
4.

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

Pecimonova M, Polak E, Csicsay F, Reblova K, Stojiljkovic M, Levarski Z, Skultety L, Kadasi L, Soltysova A.

Gen Physiol Biophys. 2017 Oct;36(4):361-371. doi: 10.4149/gpb_2017003. Epub 2017 Jun 27.

PMID:
28653649
5.

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

Soltysova A, Tothova Tarova E, Ficek A, Baldovic M, Polakova H, Kayserova H, Kadasi L.

Clin Respir J. 2018 Mar;12(3):1197-1206. doi: 10.1111/crj.12651. Epub 2017 Jun 5.

PMID:
28544683
6.

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Sertić J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP.

PLoS One. 2017 Feb 16;12(2):e0172595. doi: 10.1371/journal.pone.0172595. eCollection 2017.

7.

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

Sekelska M, Briatkova L, Olcak T, Bolcekova A, Ilencikova D, Kadasi L, Zatkova A.

Gen Physiol Biophys. 2017 Apr;36(2):205-210. doi: 10.4149/gpb_2016032. Epub 2017 Feb 2.

PMID:
28150585
8.

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Setric J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP.

PLoS One. 2016 Sep 16;11(9):e0162866. doi: 10.1371/journal.pone.0162866. eCollection 2016. Erratum in: PLoS One. 2017 Feb 16;12 (2):e0172595.

9.

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.

Gen Physiol Biophys. 2016 Jul;35(3):333-42. doi: 10.4149/gpb_2016002. Epub 2016 Apr 5.

PMID:
27045673
10.

The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents.

Polák E, Vitáriušová E, Celec P, Pribilincová Z, Košťálová Ľ, Hlavatá A, Kovács L, Kádaši Ľ.

J Pediatr Endocrinol Metab. 2016 Jan;29(1):55-61. doi: 10.1515/jpem-2015-0015.

PMID:
26244670
11.

Deregulation of energetic metabolism in the clear cell renal cell carcinoma: A multiple pathway analysis based on microarray profiling.

Soltysova A, Breza J, Takacova M, Feruszova J, Hudecova S, Novotna B, Rozborilova E, Pastorekova S, Kadasi L, Krizanova O.

Int J Oncol. 2015 Jul;47(1):287-95. doi: 10.3892/ijo.2015.3014. Epub 2015 May 19.

PMID:
25998032
12.

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.

Mašindová I, Šoltýsová A, Varga L, Mátyás P, Ficek A, Hučková M, Sůrová M, Šafka-Brožková D, Anwar S, Bene J, Straka S, Janicsek I, Ahmed ZM, Seeman P, Melegh B, Profant M, Klimeš I, Riazuddin S, Kádasi Ľ, Gašperíková D.

PLoS One. 2015 Apr 17;10(4):e0124232. doi: 10.1371/journal.pone.0124232. eCollection 2015.

13.

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.

Eur J Hum Genet. 2016 Jan;24(1):66-72. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25.

14.

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

Radvanszky J, Surovy M, Nagyova E, Minarik G, Kadasi L.

Clin Biochem. 2015 Jun;48(9):609-16. doi: 10.1016/j.clinbiochem.2015.01.010. Epub 2015 Jan 30.

PMID:
25641335
15.

Genetics and genomic medicine in Slovakia.

Kádaši L, Cisárik F.

Mol Genet Genomic Med. 2015 Jan;3(1):8-13. doi: 10.1002/mgg3.122. No abstract available.

16.

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

Vogt G, Kádasi ĽL, Czeizel E.

Orv Hetil. 2014 Aug 17;155(33):1325-8. doi: 10.1556/OH.2014.29960. Hungarian.

PMID:
25109919
17.

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

Sakthivel S, Zatkova A, Nemethova M, Surovy M, Kadasi L, Saravanan MP.

Ann Hum Genet. 2014 May;78(3):155-64. doi: 10.1111/ahg.12055. Epub 2014 Feb 12.

18.

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.

Gene. 2013 Sep 10;526(2):347-55. doi: 10.1016/j.gene.2013.05.057. Epub 2013 Jun 10.

PMID:
23764561
19.

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

Nemethova M, Bolcekova A, Ilencikova D, Durovcikova D, Hlinkova K, Hlavata A, Kovacs L, Kadasi L, Zatkova A.

Ann Hum Genet. 2013 Sep;77(5):364-79. doi: 10.1111/ahg.12026. Epub 2013 Jun 12.

20.

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

Radvanszky J, Surovy M, Polak E, Kadasi L.

Neuromuscul Disord. 2013 Jul;23(7):591-8. doi: 10.1016/j.nmd.2013.02.013. Epub 2013 Apr 2.

PMID:
23561036

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