Hedvicakova P - Search Results

1

A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors.

Trkova M, Foretova L, Kodet R, Hedvicakova P, Sedlacek Z. Trkova M, et al. Among authors: hedvicakova p. Cancer Genet Cytogenet. 2003 Aug;145(1):60-4. doi: 10.1016/s0165-4608(03)00031-1. Cancer Genet Cytogenet. 2003. PMID: 12885464

2

Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.

Krutilkova V, Trkova M, Fleitz J, Gregor V, Novotna K, Krepelova A, Sumerauer D, Kodet R, Siruckova S, Plevova P, Bendova S, Hedvicakova P, Foreman NK, Sedlacek Z. Krutilkova V, et al. Among authors: hedvicakova p. Eur J Cancer. 2005 Jul;41(11):1597-603. doi: 10.1016/j.ejca.2005.01.026. Eur J Cancer. 2005. PMID: 15925506

3

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.

Musova Z, Hedvicakova P, Mohrmann M, Tesarova M, Krepelova A, Zeman J, Sedlacek Z. Musova Z, et al. Among authors: hedvicakova p. Biochem Biophys Res Commun. 2006 Aug 18;347(1):145-9. doi: 10.1016/j.bbrc.2006.06.071. Epub 2006 Jun 21. Biochem Biophys Res Commun. 2006. PMID: 16808900

4

Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q.

Calounova G, Hedvicakova P, Silhanova E, Kreckova G, Sedlacek Z. Calounova G, et al. Among authors: hedvicakova p. Am J Med Genet A. 2008 Aug 1;146A(15):1955-62. doi: 10.1002/ajmg.a.32416. Am J Med Genet A. 2008. PMID: 18627056

5

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: hedvicakova p. 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

6

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: hedvicakova p. 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

7

Fluorescent multiplex PCR--fast method for autosomal dominant spinocerebellar ataxias screening.

Bauer PO, Kotliarova SE, Matoska V, Musova Z, Hedvicakova P, Boday A, Tomek A, Nukina N, Goetz P. Bauer PO, et al. Among authors: hedvicakova p. Genetika. 2005 Jun;41(6):830-7. Genetika. 2005. PMID: 16080609

8

Point mutations in Czech DMD/BMD patients and their phenotypic outcome.

Sedlácková J, Vondrácek P, Hermanová M, Zámecník J, Hrubá Z, Haberlová J, Kraus J, Maríková T, Hedvicáková P, Vohánka S, Fajkusová L. Sedlácková J, et al. Among authors: hedvicakova p. Neuromuscul Disord. 2009 Nov;19(11):749-53. doi: 10.1016/j.nmd.2009.08.011. Epub 2009 Sep 26. Neuromuscul Disord. 2009. PMID: 19783145

9

Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

Schwabova J, Brozkova DS, Petrak B, Mojzisova M, Pavlickova K, Haberlova J, Mrazkova L, Hedvicakova P, Hornofova L, Kaluzova M, Fencl F, Krutova M, Zamecnik J, Seeman P. Schwabova J, et al. Among authors: hedvicakova p. J Neurogenet. 2013 Dec;27(4):163-9. doi: 10.3109/01677063.2013.814651. Epub 2013 Jul 25. J Neurogenet. 2013. PMID: 23883322

10

Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.

Baumgartner D, Mušová Z, Zídková J, Hedvičáková P, Vlčková E, Joppeková L, Kramářová T, Fajkusová L, Stránecký V, Geryk J, Votýpka P, Mazanec R. Baumgartner D, et al. Among authors: hedvicakova p. J Neuromuscul Dis. 2024;11(5):1035-1048. doi: 10.3233/JND-230236. J Neuromuscul Dis. 2024. PMID: 39058450 Free PMC article.

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