Balogh I - Search Results

1

Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Madar L, Juhász L, Szűcs Z, Kerkovits L, Harangi M, Balogh I. Madar L, et al. Among authors: balogh i. Genes (Basel). 2022 Jan 15;13(1):153. doi: 10.3390/genes13010153. Genes (Basel). 2022. PMID: 35052492 Free PMC article.

2

Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis.

Ivady G, Madar L, Nagy B, Gonczi F, Ajzner E, Dzsudzsak E, Dvořáková L, Gombos E, Kappelmayer J, Macek M Jr, Balogh I. Ivady G, et al. Among authors: balogh i. J Cyst Fibros. 2011 May;10(3):217-20. doi: 10.1016/j.jcf.2010.12.009. Epub 2011 Feb 4. J Cyst Fibros. 2011. PMID: 21296036 Free article.

3

Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy.

Kapás I, Katkó M, Harangi M, Paragh G, Balogh I, Kóczi Z, Regelsberger G, Molnár MJ, Kovacs GG. Kapás I, et al. Among authors: balogh i. Neuropathol Appl Neurobiol. 2014 Apr;40(3):345-50. doi: 10.1111/nan.12058. Neuropathol Appl Neurobiol. 2014. PMID: 23659550 No abstract available.

4

[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].

Varga VE, Katkó M, Harangi J, Balogh I, Kapás I, Madar L, Seres I, Molnár MJ, Paragh G, Kovács GG, Harangi M. Varga VE, et al. Among authors: balogh i. Orv Hetil. 2014 May 25;155(21):811-6. doi: 10.1556/OH.2014.29887. Orv Hetil. 2014. PMID: 24836315 Review. Hungarian.

5

Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.

Zádori D, Szpisjak L, Madar L, Varga VE, Csányi B, Bencsik K, Balogh I, Harangi M, Kereszty É, Vécsei L, Klivényi P. Zádori D, et al. Among authors: balogh i. Neurol Sci. 2017 Mar;38(3):481-483. doi: 10.1007/s10072-016-2776-6. Epub 2016 Nov 25. Neurol Sci. 2017. PMID: 27888347

6

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: balogh i. 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.

7

Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report.

Molnár Z, Balogh L, Kappelmayer J, Madar L, Gombos É, Balogh I. Molnár Z, et al. Among authors: balogh l, balogh i. EJIFCC. 2017 Mar 8;28(1):85-91. eCollection 2017 Mar. EJIFCC. 2017. PMID: 28439221 Free PMC article.

8

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. Among authors: balogh i. 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.

9

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: balogh i. BMC Genomics. 2018 Feb 21;19(1):158. doi: 10.1186/s12864-018-4544-x. BMC Genomics. 2018. PMID: 29466940 Free PMC article.

10

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. Among authors: balogh i. Prenat Diagn. 2018 Aug;38(9):713-719. doi: 10.1002/pd.5319. Epub 2018 Jul 11. Prenat Diagn. 2018. PMID: 29935118

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