Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
Zapletalová, Eva, Hedvičáková, Petra, Kozák, Libor, Vondráček, Petr, Gaillyová, Renata, Mařı´ková, Tat’ána, Kalina, Zdeněk, Jüttnerová, Věra, Fajkus, Jiřı, Fajkusová, Lenka
Published in Neuromuscular disorders : NMD (01.06.2007)
Published in Neuromuscular disorders : NMD (01.06.2007)
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Point mutations in Czech DMD/BMD patients and their phenotypic outcome
Sedláčková, Jana, Vondráček, Petr, Hermanová, Markéta, Zámečník, Josef, Hrubá, Zuzana, Haberlová, Jana, Kraus, Josef, Maříková, Tat’ána, Hedvičáková, Petra, Voháňka, Stanislav, Fajkusová, Lenka
Published in Neuromuscular disorders : NMD (01.11.2009)
Published in Neuromuscular disorders : NMD (01.11.2009)
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Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
Schwabova, Jaroslava, Brozkova, Dana Safka, Petrak, Borivoj, Mojzisova, Mahulena, Pavlickova, Klara, Haberlova, Jana, Mrazkova, Lenka, Hedvicakova, Petra, Hornofova, Ludmila, Kaluzova, Marie, Fencl, Filip, Krutova, Marcela, Zamecnik, Josef, Seeman, Pavel
Published in Journal of neurogenetics (01.12.2013)
Published in Journal of neurogenetics (01.12.2013)
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Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q
Calounova, Gabriela, Hedvicakova, Petra, Silhanova, Eva, Kreckova, Gabriela, Sedlacek, Zdenek
Published in American journal of medical genetics. Part A (01.08.2008)
Published in American journal of medical genetics. Part A (01.08.2008)
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Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations
Krutilkova, Vera, Trkova, Marie, Fleitz, Julie, Gregor, Vladimir, Novotna, Kamila, Krepelova, Anna, Sumerauer, David, Kodet, Roman, Siruckova, Simona, Plevova, Pavlina, Bendova, Sarka, Hedvicakova, Petra, Foreman, Nicholas K., Sedlacek, Zdenek
Published in European journal of cancer (1990) (01.07.2005)
Published in European journal of cancer (1990) (01.07.2005)
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Array comparative genome hybridization in patients with developmental delay: two example cases
Hancarova, Miroslava, Drabova, Jana, Zmitkova, Zuzana, Vlckova, Marketa, Hedvicakova, Petra, Novotna, Drahuse, Vlckova, Zdenka, Vejvalkova, Sarka, Marikova, Tatana, Sedlacek, Zdenek
Published in New biotechnology (15.02.2012)
Published in New biotechnology (15.02.2012)
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Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients
Baumgartner, Daniel, Mušová, Zuzana, Zídková, Jana, Hedvičáková, Petra, Vlčková, Eva, Joppeková, Lubica, Kramářová, Tereza, Fajkusová, Lenka, Stránecký, Viktor, Geryk, Jan, Votýpka, Pavel, Mazanec, Radim
Published in Journal of neuromuscular diseases (2024)
Published in Journal of neuromuscular diseases (2024)
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A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration
Musova, Zuzana, Hedvicakova, Petra, Mohrmann, Marketa, Tesarova, Marketa, Krepelova, Anna, Zeman, Jiri, Sedlacek, Zdenek
Published in Biochemical and biophysical research communications (18.08.2006)
Published in Biochemical and biophysical research communications (18.08.2006)
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Localized mosaic neurofibromatosis type 1
Schwaz, Martin, Vícha, Aleš, Kuťková, Katarína, Krsková, Lenka, Bendová, Šárka, Zarzycka, Jana, Hedvičáková, Petra, Macek, Milan, Vlčková, Markéta
Published in Česká a Slovenská neurologie a neurochirurgie (01.01.2022)
Published in Česká a Slovenská neurologie a neurochirurgie (01.01.2022)
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Characteristics of a cohort of boys with Duchenne and Becker muscular dystrophies – a study from a single neuromuscular centre
Rohlenová, Marie, Machová, Kateřina, Stará, Veronika, Hedvičáková, Petra, Zieg, Jakub, Doušová, Tereza, Fajkusová, Lenka, Venclová-Žáčková, Jitka, Souček, Ondřej, Haberlová, Jana
Published in Česká a Slovenská neurologie a neurochirurgie (30.06.2020)
Published in Česká a Slovenská neurologie a neurochirurgie (30.06.2020)
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