Koczok K - Search Results

1

Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing.

Koczok K, Gombos É, Madar L, Török O, Balogh I. Koczok K, et al. Prenat Diagn. 2018 Aug;38(9):713-719. doi: 10.1002/pd.5319. Epub 2018 Jul 11. Prenat Diagn. 2018. PMID: 29935118

2

Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

Balogh I, Koczok K, Szabó GP, Török O, Hadzsiev K, Csábi G, Balogh L, Dzsudzsák E, Ajzner E, Szabó L, Csákváry V, Oláh AV. Balogh I, et al. Among authors: koczok k. Mol Syndromol. 2012 Nov;3(5):215-22. doi: 10.1159/000343923. Epub 2012 Nov 9. Mol Syndromol. 2012. PMID: 23293579 Free PMC article.

3

[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome].

Koczok K, V Oláh A, P Szabó G, Oláh É, Török O, Balogh I. Koczok K, et al. Orv Hetil. 2015 Oct 18;156(42):1695-702. doi: 10.1556/650.2015.30256. Orv Hetil. 2015. PMID: 26551309 Review. Hungarian.

4

The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts.

Korade Z, Kim HY, Tallman KA, Liu W, Koczok K, Balogh I, Xu L, Mirnics K, Porter NA. Korade Z, et al. Among authors: koczok k. J Med Chem. 2016 Feb 11;59(3):1102-15. doi: 10.1021/acs.jmedchem.5b01696. Epub 2016 Jan 29. J Med Chem. 2016. PMID: 26789657 Free PMC article.

5

Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Ivády G, Koczok K, Madar L, Gombos E, Toth I, Gyori K, Balogh I. Ivády G, et al. Among authors: koczok k. J Med Biochem. 2015 Jan;34(1):46-51. doi: 10.2478/jomb-2014-0055. Epub 2014 Oct 8. J Med Biochem. 2015. PMID: 28356823 Free PMC article.

6

Vulnerability of DHCR7^+/- mutation carriers to aripiprazole and trazodone exposure.

Korade Z, Genaro-Mattos TC, Tallman KA, Liu W, Garbett KA, Koczok K, Balogh I, Mirnics K, Porter NA. Korade Z, et al. Among authors: koczok k. J Lipid Res. 2017 Nov;58(11):2139-2146. doi: 10.1194/jlr.M079475. Epub 2017 Sep 28. J Lipid Res. 2017. PMID: 28972118 Free PMC article.

7

A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy.

Koczok K, Merő G, Szabó GP, Madar L, Gombos É, Ajzner É, Mótyán JA, Hortobágyi T, Balogh I. Koczok K, et al. Neuromuscul Disord. 2018 Feb;28(2):129-136. doi: 10.1016/j.nmd.2017.12.003. Epub 2017 Dec 7. Neuromuscul Disord. 2018. PMID: 29373175 Free article.

8

Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.

Ivády G, Madar L, Dzsudzsák E, Koczok K, Kappelmayer J, Krulisova V, Macek M Jr, Horváth A, Balogh I. Ivády G, et al. Among authors: koczok k. BMC Genomics. 2018 Feb 21;19(1):158. doi: 10.1186/s12864-018-4544-x. BMC Genomics. 2018. PMID: 29466940 Free PMC article.

9

Subcellular localization of sterol biosynthesis enzymes.

Koczok K, Gurumurthy CB, Balogh I, Korade Z, Mirnics K. Koczok K, et al. J Mol Histol. 2019 Feb;50(1):63-73. doi: 10.1007/s10735-018-9807-y. Epub 2018 Dec 8. J Mol Histol. 2019. PMID: 30535733 Free PMC article.

10

FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies.

Madar L, Szakszon K, Pfliegler G, Szabó GP, Brúgós B, Ronen N, Papp J, Zahuczky K, Szakos E, Fekete G, Oláh É, Koczok K, Balogh I. Madar L, et al. Among authors: koczok k. J Biotechnol. 2019 Aug 10;301:105-111. doi: 10.1016/j.jbiotec.2019.05.012. Epub 2019 Jun 1. J Biotechnol. 2019. PMID: 31163209

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