Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation von Synková, Iva, Bébarová, Markéta, Andršová, Irena, Chmelikova, Larisa, Švecová, Olga, Hošek, Jan, Pásek, Michal, Vít, Pavel, Valášková, Iveta, Gaillyová, Renata, Navrátil, Rostislav, Novotný, Tomáš

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Malignant hyperthermia in Czechia and Slovakia von Klincová, Martina, Štěpánková, Dagmar, Schröderová, Ivana, Klabusayová, Eva, Ošťádalová, Edita, Valášková, Iveta, Fajkusová, Lenka, Zídková, Jana, Gaillyová, Renata, Štourač, Petr

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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) von Jelinkova, Sarka, Markova, Lenka, Pesl, Martin, Valáškova, Iveta, Makaturová, Eva, Jurikova, Lenka, Vondracek, Petr, Lacampagne, Alain, Dvorak, Petr, Meli, Albano C., Rotrekl, Vladimir

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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 von Synková, Iva, Bébarová, Markéta, Andršová, Irena, Chmelikova, Larisa, Švecová, Olga, Hošek, Jan, Pásek, Michal, Vít, Pavel, Valášková, Iveta, Gaillyová, Renata, Navrátil, Rostislav, Novotný, Tomáš

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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 von Silva, Iris A.L., Doušová, Tereza, Ramalho, Sofia, Centeio, Raquel, Clarke, Luka A., Railean, Violeta, Botelho, Hugo M., Holubová, Andrea, Valášková, Iveta, Yeh, Jiunn-Tyng, Hwang, Tzyh-Chang, Farinha, Carlos M., Kunzelmann, Karl, Amaral, Margarida D.

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Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress von Jelinkova, Sarka, Fojtik, Petr, Kohutova, Aneta, Vilotic, Aleksandra, Marková, Lenka, Pesl, Martin, Jurakova, Tereza, Kruta, Miriama, Vrbsky, Jan, Gaillyova, Renata, Valášková, Iveta, Frák, Ivan, Lacampagne, Alain, Forte, Giancarlo, Dvorak, Petr, Meli, Albano C, Rotrekl, Vladimir

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Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers von Li, Xinzhong, Buckton, Andrew J, Wilkinson, Samuel L, John, Shibu, Walsh, Roddy, Novotny, Tomas, Valaskova, Iveta, Gupta, Manu, Game, Laurence, Barton, Paul J R, Cook, Stuart A, Ware, James S

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

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Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype von Szafranski, Przemyslaw, Liu, Qian, Karolak, Justyna A., Song, Xiaofei, de Leeuw, Nicole, Faas, Brigitte, Gerychova, Romana, Janku, Petr, Jezova, Marta, Valaskova, Iveta, Gibbs, Kathleen A., Surrey, Lea F., Poisson, Virginie, Bérubé, Denis, Oligny, Luc L., Michaud, Jacques L., Popek, Edwina, Stankiewicz, Paweł

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A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human von Sen, Partha, Gerychova, Romana, Janku, Petr, Jezova, Marta, Valaskova, Iveta, Navarro, Colby, Silva, Iris, Langston, Claire, Welty, Stephen, Belmont, John, Stankiewicz, Pawel

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Clinical Characteristics and Mutational Analysis of the RyR2 Gene in Seven Czech Families with Catecholaminergic Polymorphic Ventricular Tachycardia von ANDRSOVA, IRENA, VALASKOVA, IVETA, KUBUS, PETER, VIT, PAVEL, GAILLYOVA, RENATA, KADLECOVA, JITKA, MANOUSKOVA, LENKA, NOVOTNY, TOMAS

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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 von Veselska, Renata, Skoda, Jan, Loja, Tomas, Zitterbart, Karel, Pavelka, Zdenek, Smardova, Jana, Valaskova, Iveta, Hermanova, Marketa, Sterba, Jaroslav

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Identification of a Family with SUFU Germline Deletion Based on a Case of Desmoplastic Medulloblastoma in an Infant von Šoukalová, J, Vejmělková, K, Cermanová, T, Kašíková, K, Mikulášová, A, Janyšková, H, Melichárková, K, Pavelka, Z, Ježová, M, Pospíšilová, Š, Kuglík, P, Valášková, I, Gaillyová, R, Štěrba, J, Zitterbart, K

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Identification of a Novel Ryanodine Receptor Mutation Causing Malignant Hyperthermia von Valaskova, Iveta, Dudova, Silvie, Necasova, Jana, Ostadalova, Edita, Vanaskova, Martina, Stepankova, Dagmar, Schröderova, Ivana, Gaillyova, Renata, Kuglik, Petr

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Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers. e67744 von Li, Xinzhong, Buckton, Andrew J, Wilkinson, Samuel L, John, Shibu, Walsh, Roddy, Novotny, Tomas, Valaskova, Iveta, Gupta, Manu, Game, Laurence, Barton, Paul JR

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Mutation analysis of RyR2 gene in patients after arrhythmic storm von Andršová, I., Novotný, T., Valášková, I., Kadlecová, J., Kuderová, D., Sepši, M., Kozák, M., Křivan, M., Gaillyová, R., Špinar, J.

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Clinical characteristics of three Czech families with catecholaminergic polymorphic ventricular tachycardia and pilot results of RyR2 gene mutation analysis von Novotný, Tomáš, Kubuš, Peter, Vít, Pavel, Floriánová, Alena, Dohnalová, Irena, Valášková, Iveta, Kadlecová, Jitka, Gaillyová, Renata, Švandová, Eva, Špinar, Jindřich

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Method of carrying out QF-PCR detection of chromosome aneuploidia and diagnostic kit von KOVA OVICOVÁ KRISTÍNA, VALÁŠKOVÁ IVETA

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Inactivation of p53 and amplification of MYCN gene in a terminal lymphoblastic relapse in a chronic lymphocytic leukemia patient von Stano-Kozubik, Katerina, Malcikova, Jitka, Tichy, Boris, Kotaskova, Jana, Borsky, Marek, Hrabcakova, Viera, Francova, Hana, Valaskova, Iveta, Bourkova, Ludmila, Smardova, Jana, Doubek, Michael, Brychtova, Yvona, Pospisilova, Sarka, Mayer, Jiri, Trbusek, Martin

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Short communication: Inactivation of p53 and amplification of MYCN gene in a terminal lymphoblastic relapse in a chronic lymphocytic leukemia patient von Stano-Kozubik, Katerina, Malcikova, Jitka, Tichy, Boris, Kotaskova, Jana, Borsky, Marek, Hrabcakova, Viera, Francova, Hana, Valaskova, Iveta, Bourkova, Ludmila, Smardova, Jana, Doubek, Michael, Brychtova, Yvona, Pospisilova, Sarka, Mayer, Jiri, Trbusek, Martin

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