Stejskal D - Search Results

1

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. Among authors: stejskal d. 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

2

QF-PCR-based prenatal detection of common aneuploidies in the Czech population: five years of experience.

Putzova M, Soldatova I, Pecnova L, Dvorakova L, Jencikova N, Goetz P, Stejskal D. Putzova M, et al. Among authors: stejskal d. Eur J Med Genet. 2008 May-Jun;51(3):209-18. doi: 10.1016/j.ejmg.2008.02.003. Epub 2008 Feb 19. Eur J Med Genet. 2008. PMID: 18378202

3

OmniPlex--a new QF-PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population.

Putzova M, Pecnova L, Dvorakova L, Soldatova I, Goetz P, Stejskal D. Putzova M, et al. Among authors: stejskal d. Prenat Diagn. 2008 Dec;28(13):1214-20. doi: 10.1002/pd.2151. Prenat Diagn. 2008. PMID: 19012274

4

Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis.

Borgulová I, Putzová M, Soldatova I, Stejskal D. Borgulová I, et al. Among authors: stejskal d. Med Clin (Barc). 2018 Mar 23;150(6):215-219. doi: 10.1016/j.medcli.2017.06.041. Epub 2017 Aug 8. Med Clin (Barc). 2018. PMID: 28797703 English, Spanish.

5

[Application of SNP array method in prenatal diagnosis].

Becvárová V, Hynek M, Putzová M, Soldátová I, Horácek J, Smetanová D, Kulovaný E, Matousková M, Krutílková V, Hlavová E, Rasková D, Hejtmánková M, Cutka K, Cutka D, Stejskal D, Mihalová R, Trková M. Becvárová V, et al. Among authors: stejskal d. Ceska Gynekol. 2011 Sep;76(4):261-7. Ceska Gynekol. 2011. PMID: 22026066 Czech.

6

Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.

Šafka Brozková D, Laššuthová P, Neupauerová J, Krůtová M, Haberlová J, Stejskal D, Seeman P. Šafka Brozková D, et al. Among authors: stejskal d. Brain. 2013 Jul;136(Pt 7):e232. doi: 10.1093/brain/aws333. Epub 2013 Jan 16. Brain. 2013. PMID: 23328402 No abstract available.

7

Preimplantation genetic diagnosis of X-linked diseases examined by indirect linkage analysis.

Borgulova I, Putzova M, Soldatova I, Krautova L, Pecnova L, Mika J, Kren R, Potuznikova P, Stejskal D. Borgulova I, et al. Among authors: stejskal d. Bratisl Lek Listy. 2015;116(9):542-6. doi: 10.4149/bll_2015_103. Bratisl Lek Listy. 2015. PMID: 26435019

8

SNP array and phenotype correlation shows that FLI1 deletion per se is not responsible for thrombocytopenia development in Jacobsen syndrome.

Trkova M, Becvarova V, Hynek M, Hnykova L, Hlavova E, Kreckova G, Kulovany E, Cutka D, Zatloukalova J, Markova K, Sukova M, Horacek J, Stejskal D. Trkova M, et al. Among authors: stejskal d. Am J Med Genet A. 2012 Oct;158A(10):2545-50. doi: 10.1002/ajmg.a.35537. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887642

9

ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome.

Trkova M, Krutilkova V, Smetanova D, Becvarova V, Hlavova E, Jencikova N, Hodacova J, Hnykova L, Hroncova H, Horacek J, Stejskal D. Trkova M, et al. Among authors: stejskal d. Eur J Med Genet. 2015 Aug;58(8):372-5. doi: 10.1016/j.ejmg.2015.05.004. Epub 2015 Jun 16. Eur J Med Genet. 2015. PMID: 26087224

10

Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism.

Musova Z, Hancarova M, Havlovicova M, Pourova R, Hrdlicka M, Kraus J, Trkova M, Stejskal D, Sedlacek Z. Musova Z, et al. Among authors: stejskal d. Neuropsychiatr Dis Treat. 2016 Sep 19;12:2367-2372. doi: 10.2147/NDT.S113917. eCollection 2016. Neuropsychiatr Dis Treat. 2016. PMID: 27695335 Free PMC article.

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