Mészárosová A - Search Results

1

STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.

Marková SP, Brožková DŠ, Laššuthová P, Mészárosová A, Krůtová M, Neupauerová J, Rašková D, Trková M, Staněk D, Seeman P. Marková SP, et al. Among authors: meszarosova a. Genet Test Mol Biomarkers. 2018 Feb;22(2):127-134. doi: 10.1089/gtmb.2017.0155. Genet Test Mol Biomarkers. 2018. PMID: 29425068

2

Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.

Marková S, Šafka Brožková D, Mészárosová A, Neupauerová J, Groh D, Křečková G, Laššuthová P, Seeman P. Marková S, et al. Among authors: meszarosova a. Int J Pediatr Otorhinolaryngol. 2016 Jul;86:27-33. doi: 10.1016/j.ijporl.2016.04.005. Epub 2016 Apr 7. Int J Pediatr Otorhinolaryngol. 2016. PMID: 27260575

3

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

Mészárosová AU, Putzová M, Čermáková M, Vávrová D, Doležalová K, Smetanová I, Stejskal D, Beetz C, Seeman P. Mészárosová AU, et al. J Hum Genet. 2016 Oct;61(10):845-850. doi: 10.1038/jhg.2016.73. Epub 2016 Jun 23. J Hum Genet. 2016. PMID: 27334366

4

Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients.

Mészárosová AU, Grečmalová D, Brázdilová M, Dvořáčková N, Kalina Z, Čermáková M, Vávrová D, Smetanová I, Staněk D, Seeman P. Mészárosová AU, et al. Ann Hum Genet. 2017 Nov;81(6):249-257. doi: 10.1111/ahg.12206. Epub 2017 Jul 23. Ann Hum Genet. 2017. PMID: 28736820

5

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found.

Meszarosova AU, Seeman P, Jencik J, Drabova J, Cibochova R, Stellmachova J, Safka Brozkova D. Meszarosova AU, et al. Neurosci Lett. 2020 Mar 16;721:134800. doi: 10.1016/j.neulet.2020.134800. Epub 2020 Jan 30. Neurosci Lett. 2020. PMID: 32007496

6

Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers.

Meszarosova AU, Lastuvkova J, Rennerova L, Hitka P, Cihlar F, Seeman P, Safka Brozkova D. Meszarosova AU, et al. Clin Dysmorphol. 2020 Oct;29(4):197-201. doi: 10.1097/MCD.0000000000000335. Clin Dysmorphol. 2020. PMID: 32657846

7

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.

Safka Brozkova D, Poisson Marková S, Mészárosová AU, Jenčík J, Čejnová V, Čada Z, Laštůvková J, Rašková D, Seeman P. Safka Brozkova D, et al. Among authors: meszarosova au. Clin Genet. 2020 Dec;98(6):548-554. doi: 10.1111/cge.13839. Epub 2020 Sep 27. Clin Genet. 2020. PMID: 32860223

8

SPG11: clinical and genetic features of seven Czech patients and literature review.

Doleckova K, Roth J, Stellmachova J, Gescheidt T, Sigut V, Houska P, Jech R, Zech M, Vyhnalek M, Vyhnalkova E, Seeman P, Meszarosova AU. Doleckova K, et al. Among authors: meszarosova au. Neurol Res. 2022 May;44(5):379-389. doi: 10.1080/01616412.2021.1975224. Epub 2022 Mar 7. Neurol Res. 2022. PMID: 35254204 Review.

9

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.

Čopíková J, Paděrová J, Románková V, Havlovicová M, Balaščáková M, Zelinová M, Vejvalková Š, Simandlová M, Štěpánková J, Hořínová V, Kantorová E, Křečková G, Pospíšilová J, Boday A, Meszarosová AU, Turnovec M, Votýpka P, Lišková P, Kremlíková Pourová R. Čopíková J, et al. Among authors: meszarosova au. Ann Hum Genet. 2020 Sep;84(5):380-392. doi: 10.1111/ahg.12386. Epub 2020 May 19. Ann Hum Genet. 2020. PMID: 32427345

10

Clinical significance of hypermethylation status in NSCLC: evaluation of a 30-gene panel in patients with advanced disease.

Pesek M, Kopeckova M, Benesova L, Meszarosova A, Mukensnabl P, Bruha F, Minarik M. Pesek M, et al. Among authors: meszarosova a. Anticancer Res. 2011 Dec;31(12):4647-52. Anticancer Res. 2011. PMID: 22199344

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