Search Results - "Petrak, Borivoj"

Brain gliomas, hydrocephalus and idiopathic aqueduct stenosis in children with neurofibromatosis type 1 by Glombova, Marie, Petrak, Borivoj, Lisy, Jiri, Zamecnik, Josef, Sumerauer, David, Liby, Petr

“…To evaluate the incidence and clinical importance of brain gliomas – optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for…”
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miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex by Scheper, Mirte, Romagnolo, Alessia, Besharat, Zein Mersini, Iyer, Anand M, Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Petrak, Borivoj, Maulisova, Alice, Nabbout, Rima, Jansen, Anna C, Jansen, Floor E, Lagae, Lieven, Urbanska, Malgorzata, Ferretti, Elisabetta, Tempes, Aleksandra, Blazejczyk, Magdalena, Jaworski, Jacek, Kwiatkowski, David J, Jozwiak, Sergiusz, Kotulska, Katarzyna, Sadowski, Krzysztof, Borkowska, Julita, Curatolo, Paolo, Mills, James D, Aronica, Eleonora

“…Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterized by a high incidence of epilepsy and neuropsychiatric manifestations…”
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Early predictors of clinical and mental outcome in tuberous sclerosis complex: A prospective study by Benova, Barbora, Petrak, Borivoj, Kyncl, Martin, Jezdik, Petr, Maulisova, Alice, Jahodova, Alena, Komarek, Vladimir, Krsek, Pavel

“…We aimed to identify early predictors of intractable epilepsy, intellectual disability (ID) and autism spectrum disorders (ASD) in the cohort of TSC patients…”
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EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex by Fogarasi, Andras, De Waele, Liesbeth, Bartalini, Gabriella, Jozwiak, Sergiusz, Laforgia, Nicola, Verhelst, Helene, Petrak, Borivoj, Pedespan, Jean-Michel, Witt, Olaf, Castellana, Ramon, Crippa, Stefania, Gislimberti, Gabriella, Gyorsok, Zsuzsanna

“…Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been shown to be effective and safe in the treatment of subependymal giant cell astrocytoma…”
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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 by 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

“…Abstract Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular…”
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Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes by Hancarova, Miroslava, Simandlova, Martina, Drabova, Jana, Petrak, Borivoj, Koudova, Monika, Havlovicova, Marketa, Sedlacek, Zdenek

“…Highlights ► We report a boy with de novo 0.9 Mb deletion of 12q13.13 including the HOXC cluster. ► Comparison with 2 cases described previously points to a…”
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The importance of advanced parental age in the origin of neurofibromatosis type 1 by Snajderova, Marta, Riccardi, Vincent M., Petrak, Borivoj, Zemkova, Daniela, Zapletalova, Jirina, Mardesic, Tonko, Petrakova, Alena, Lanska, Vera, Marikova, Tatiana, Bendova, Sarka, Havlovicova, Marketa, Kaluzova, Marie

“…Von Recklinghausen neurofibromatosis (NF1) is an autosomal dominant disorder with a prevalence about 1/3,000 (1/2,000–1/5,000 in various population‐based…”
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Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years by Huschner, Franz, Głowacka-Walas, Jagoda, Mills, James D., Klonowska, Katarzyna, Lasseter, Kathryn, Asara, John M., Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Petrák, Bořivoj, van Scheppingen, Jackelien, Zamecnik, Josef, Iyer, Anand, Anink, Jasper J., Mühlebner, Angelika, Mijnsbergen, Caroline, Lagae, Lieven, Curatolo, Paolo, Borkowska, Julita, Sadowski, Krzysztof, Domańska-Pakieła, Dorota, Blazejczyk, Magdalena, Jansen, Floor E., Janson, Stef, Urbanska, Malgorzata, Tempes, Aleksandra, Janssen, Bart, Sijko, Kamil, Wojdan, Konrad, Jozwiak, Sergiusz, Kotulska, Katarzyna, Lehmann, Karola, Aronica, Eleonora, Jaworski, Jacek, Kwiatkowski, David J.

“…We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial of early intervention with vigabatrin for pre-symptomatic epilepsy…”
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A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17 by Havlovicova, Marketa, Novotna, Drahuse, Kocarek, Eduard, Novotna, Kamila, Bendova, Sarka, Petrak, Borivoj, Hrdlicka, Michal, Sedlacek, Zdenek

“…We describe a girl with neurofibromatosis type 1 (NF1), mild dysmorphic features, growth and mental retardation, autism, and mosaicism of ring chromosome 17…”
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FOCAL AREAS OF HIGH-SIGNAL INTENSITY ON BRAIN T2-WEIGHTED MAGNETIC RESONANCE IMAGING SCANS ARE SIGNIFICANT FOR THE DIAGNOSIS OF NEUROFIBROMATOSIS VON RECKLINGHAUSEN TYPE 1 by Petrak, Borivoj, Lisy, Jiri, Kraus, Josef, Kyncl, Martin, Zatrapa, Tomas

“…INTRODUCTION: Neurofibromatosis von Recklinghausen type 1 (NF1) is characterized by the following National Institutes of Health (NIH) diagnostic criteria:…”
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Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1 by Bendova, Sarka, Krepelova, Anna, Petrak, Borivoj, Kinstova, Lenka, Musova, Zuzana, Rausova, Eva, Marikova, Tatana

“…Neurofibromatosis type 1 (NF1) is one of the most common inherited human disorders, with an estimated incidence of 1 per 3500 births. In most cases, the…”
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Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1 by Petrak, Borivoj, Bendova, Sarka, Seeman, Tomas, Klein, Tibor, Lisy, Jiri, Zatrapa, Tomas, Marikova, Tana

“…Neurofibromatosis von Recklinghausen type 1 (NF1) is an autosomal dominant neurocutaneous disorder affecting one in 3 000-4 000 individuals. Mid-aortic…”
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Anti-vimentin antibodies and neuron-specific enolase in children with neurofibromatosis type-1 by Kotaska, Karel, Petrak, Borivoj, Kukacka, Jiri, Kraus, Josef, Prusa, Richard

“…The aim of the study was to investigate the relationship of serum levels of neuron-specific enolase, anti-vimentin IgG, and anti-vimentin IgM antibodies in…”
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A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17 by Havlovicova, Marketa, Novotna, Drahuse, Kocarek, Eduard, Novotna, Kamila, Bendova, Sarka, Petrak, Borivoj, Hrdlicka, Michal, Sedlacek, Zdenek

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Neurofibromatosis von Recklinghausen type 1 (NF1) - clinical picture and molecular-genetics diagnostic by Petrák, Bořivoj, Bendová, Šárka, Lisý, Jiří, Kraus, Josef, Zatrapa, Tomáš, Glombová, Marie, Zámečník, Josef

“…Neurofibromatosis von Recklinghausen type 1 (NF1) is a multisystem, autosomal dominant hereditary neurocutaneous disease characterized by skin, central and…”
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Neurofibromatosis von Recklinghausen by Petrák, B, Plevová, P, Novotný, J, Foretová, L

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Výzkum III. CS z pozic sociologie by Petrák, Bořivoj

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