Kadasi L - Search Results

1

Elevated immunoglobulin D levels in children with PFAPA syndrome.

Kovacs L, Hlavatá A, Baldovič M, Paulovicova E, Dallos T, Fehérvízyová Z, Kadasi L. Kovacs L, et al. Among authors: kadasi l. Neuro Endocrinol Lett. 2010;31(6):743-6. Neuro Endocrinol Lett. 2010. PMID: 21196927

2

Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients.

Bognar C, Baldovic M, Benetin J, Kadasi L, Zatkova A. Bognar C, et al. Among authors: kadasi l. Gen Physiol Biophys. 2013 Mar;32(1):55-66. doi: 10.4149/gpb2013006. Gen Physiol Biophys. 2013. PMID: 23531835

3

[Difficulties in the differential diagnosis of proteinuria during pregnancy].

Szalay A, Molnár G, Kósa D, Kádasi L, Papp Á, Tóth Z, Szendrői A, Borka K, Kovács M. Szalay A, et al. Among authors: kadasi l. Orv Hetil. 2022 Aug 21;163(34):1362-1368. doi: 10.1556/650.2022.32562. Print 2022 Aug 21. Orv Hetil. 2022. PMID: 35988088 Review. Hungarian.

4

Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.

Radvanska E, Pos Z, Zatkova A, Hyblova M, Bauer F, Szemes T, Kadasi L, Radvanszky J. Radvanska E, et al. Among authors: kadasi l. Bratisl Lek Listy. 2022;123(8):568-572. doi: 10.4149/BLL_2022_090. Bratisl Lek Listy. 2022. PMID: 35852507

5

A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.

Solovyev AV, Kushniarevich A, Bliznetz E, Bady-Khoo M, Lalayants MR, Markova TG, Minárik G, Kádasi L, Metspalu E, Pshennikova VG, Teryutin FM, Khusnutdinova EK, Poliakov A, Metspalu M, Posukh OL, Barashkov NA, Fedorova SA. Solovyev AV, et al. Among authors: kadasi l. Hum Genet. 2022 Apr;141(3-4):697-707. doi: 10.1007/s00439-021-02405-w. Epub 2021 Nov 27. Hum Genet. 2022. PMID: 34839402

6

Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles.

Radvanszky J, Hyblova M, Radvanska E, Spalek P, Valachova A, Magyarova G, Bognar C, Polak E, Szemes T, Kadasi L. Radvanszky J, et al. Among authors: kadasi l. J Clin Med. 2021 Aug 31;10(17):3934. doi: 10.3390/jcm10173934. J Clin Med. 2021. PMID: 34501382 Free PMC article.

7

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.

Kluckova D, Kolnikova M, Medova V, Bognar C, Foltan T, Svecova L, Gnip A, Kadasi L, Soltysova A, Ficek A. Kluckova D, et al. Among authors: kadasi l. Epilepsy Res. 2021 Oct;176:106699. doi: 10.1016/j.eplepsyres.2021.106699. Epub 2021 Jun 23. Epilepsy Res. 2021. PMID: 34229227

8

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: kadasi l. 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.

9

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

Kluckova D, Kolnikova M, Lacinova L, Jurkovicova-Tarabova B, Foltan T, Demko V, Kadasi L, Ficek A, Soltysova A. Kluckova D, et al. Among authors: kadasi l. Sci Rep. 2020 Jun 24;10(1):10288. doi: 10.1038/s41598-020-67215-y. Sci Rep. 2020. PMID: 32581296 Free PMC article.

10

Alkaptonuria: Current Perspectives.

Zatkova A, Ranganath L, Kadasi L. Zatkova A, et al. Among authors: kadasi l. Appl Clin Genet. 2020 Jan 23;13:37-47. doi: 10.2147/TACG.S186773. eCollection 2020. Appl Clin Genet. 2020. PMID: 32158253 Free PMC article. Review.

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