Publications by authors named "Iveta Valaskova"

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Malignant hyperthermia in Czechia and Slovakia.
Martina Klincová, Dagmar Štěpánková, Ivana Schröderová, Eva Klabusayová, Edita Ošťádalová

Br J Anaesth· August 2022

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Author Correction: Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.
Iva Synková, Markéta Bébarová, Irena Andršová, Larisa Chmelikova, Olga Švecová

Sci Rep· April 2021

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Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.
Iva Synková, Markéta Bébarová, Irena Andršová, Larisa Chmelikova, Olga Švecová

Sci Rep· February 2021

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Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.
Iris A L Silva, Tereza Doušová, Sofia Ramalho, Raquel Centeio, Luka A Clarke

Biochim Biophys Acta Mol Basis Dis· November 2020

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Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
Przemyslaw Szafranski, Qian Liu, Justyna A Karolak, Xiaofei Song, Nicole de Leeuw, Iveta Valaskova

Hum Genet· December 2019

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Generation of two Duchenne muscular dystrophy patient-specific induced pluripotent stem cell lines DMD02 and DMD03 (MUNIi001-A and MUNIi003-A).
Sarka Jelinkova, Lenka Markova, Martin Pesl, Iveta Valáškova, Eva Makaturová

Stem Cell Res· October 2019

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Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress.
Sarka Jelinkova, Petr Fojtik, Aneta Kohutova, Aleksandra Vilotic, Lenka Marková

Cells· January 2019

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Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers.
Xinzhong Li, Andrew J Buckton, Samuel L Wilkinson, Shibu John, Roddy Walsh, Iveta Valaskova

PLoS One· February 2014

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Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Partha Sen, Yaping Yang, Colby Navarro, Iris Silva, Przemyslaw Szafranski, Iveta Valaskova

Hum Mutat· June 2013

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A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human.
Partha Sen, Romana Gerychova, Petr Janku, Marta Jezova, Iveta Valaskova

Eur J Hum Genet· April 2013

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Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia.
Irena Andrsova, Iveta Valaskova, Peter Kubus, Pavel Vit, Renata Gaillyova

Pacing Clin Electrophysiol· July 2012

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An unusual loss of EGFR gene copy in glioblastoma multiforme in a child: a case report and analysis of a successfully derived HGG-02 cell line.
Renata Veselska, Jan Skoda, Tomas Loja, Karel Zitterbart, Zdenek Pavelka, Iveta Valaskova

Childs Nerv Syst· June 2010

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Inactivation of p53 and amplification of MYCN gene in a terminal lymphoblastic relapse in a chronic lymphocytic leukemia patient.
Katerina Stano-Kozubik, Jitka Malcikova, Boris Tichy, Jana Kotaskova, Marek Borsky, Iveta Valaskova

Cancer Genet Cytogenet· February 2009

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Immunohistochemical and genetic analysis of osteoclastic giant cell tumor of the pancreas.
Zdenek Lukás, Karel Dvorák, Iva Kroupová, Iveta Valásková, Boris Habanec

Pancreas· April 2006

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