Marikova T - Search Results

1

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Slamova Z, Nazaryan-Petersen L, Mehrjouy MM, Drabova J, Hancarova M, Marikova T, Novotna D, Vlckova M, Vlckova Z, Bak M, Zemanova Z, Tommerup N, Sedlacek Z. Slamova Z, et al. Among authors: marikova t. Hum Mutat. 2018 May;39(5):709-716. doi: 10.1002/humu.23408. Epub 2018 Feb 20. Hum Mutat. 2018. PMID: 29405539

2

Array comparative genome hybridization in patients with developmental delay: two example cases.

Hancarova M, Drabova J, Zmitkova Z, Vlckova M, Hedvicakova P, Novotna D, Vlckova Z, Vejvalkova S, Marikova T, Sedlacek Z. Hancarova M, et al. Among authors: marikova t. N Biotechnol. 2012 Feb 15;29(3):321-4. doi: 10.1016/j.nbt.2010.10.006. Epub 2010 Oct 20. N Biotechnol. 2012. PMID: 20969982

3

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

Neupauerová J, Štěrbová K, Vlčková M, Sebroňová V, Maříková T, Krůtová M, David S, Kršek P, Žaliová M, Seeman P, Laššuthová P. Neupauerová J, et al. Among authors: marikova t. Genet Test Mol Biomarkers. 2017 Oct;21(10):613-618. doi: 10.1089/gtmb.2017.0110. Epub 2017 Sep 5. Genet Test Mol Biomarkers. 2017. PMID: 28872899

4

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene.

Musova Z, Mazanec R, Krepelova A, Ehler E, Vales J, Jaklova R, Prochazka T, Koukal P, Marikova T, Kraus J, Havlovicova M, Sedlacek Z. Musova Z, et al. Among authors: marikova t. Am J Med Genet A. 2009 Jul;149A(7):1365-74. doi: 10.1002/ajmg.a.32987. Am J Med Genet A. 2009. PMID: 19514047

5

Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.

Zapletalová E, Hedvicáková P, Kozák L, Vondrácek P, Gaillyová R, Maríková T, Kalina Z, Jüttnerová V, Fajkus J, Fajkusová L. Zapletalová E, et al. Among authors: marikova t. Neuromuscul Disord. 2007 Jun;17(6):476-81. doi: 10.1016/j.nmd.2007.03.003. Epub 2007 May 1. Neuromuscul Disord. 2007. PMID: 17475491

6

Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.

Lassuthová P, Baránková L, Kraus J, Maríková T, Seeman P. Lassuthová P, et al. Among authors: marikova t. Pediatr Neurol. 2009 Aug;41(2):127-30. doi: 10.1016/j.pediatrneurol.2009.03.009. Pediatr Neurol. 2009. PMID: 19589462

7

First cases in the Czech Republic of the Hallervorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene.

Zumrová A, Krepelová A, Kyncl M, Maríková T, Prosková M, Cíbochová R, Sebronová V, Komárek V. Zumrová A, et al. Among authors: marikova t. Neuro Endocrinol Lett. 2005 Jun;26(3):213-8. Neuro Endocrinol Lett. 2005. PMID: 15990724

8

Charcot-Marie-Tooth 1A: Heterozygous T118M Mutation over a CMT1A Duplication Has No Influence on the Phenotype.

Seeman P, Mazanec R, Marikova T, Rautenstrauss B. Seeman P, et al. Among authors: marikova t. Ann N Y Acad Sci. 1999 Oct;883(1):485-489. doi: 10.1111/j.1749-6632.1999.tb08617.x. Ann N Y Acad Sci. 1999. PMID: 29086960 No abstract available.

9

Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1.

Bendova S, Krepelova A, Petrak B, Kinstova L, Musova Z, Rausova E, Marikova T. Bendova S, et al. Among authors: marikova t. J Mol Neurosci. 2007;31(3):273-9. doi: 10.1385/jmn:31:03:273. J Mol Neurosci. 2007. PMID: 17726231

10

Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.

Stehlíková K, Zapletalová E, Sedlácková J, Hermanová M, Vondrácek P, Maríková T, Mazanec R, Zámecník J, Vohánka S, Fajkus J, Fajkusová L. Stehlíková K, et al. Among authors: marikova t. Neuromuscul Disord. 2007 Feb;17(2):143-7. doi: 10.1016/j.nmd.2006.10.001. Epub 2006 Dec 8. Neuromuscul Disord. 2007. PMID: 17157502

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