Resultats de la cerca - Stranecky, Viktor

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant? per Sikora, Jakub, Jedlickova, Ivana, Pristoupilova, Anna, Stranecky, Viktor, Honzik, Tomas

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Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated pheno... per Prchalova, Darina, Havlovicova, Marketa, Sterbova, Katalin, Stranecky, Viktor, Hancarova, Miroslava, Sedlacek, Zdenek

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Severe phenotype of ATP6AP1‐CDG in two siblings with a novel mutation leading to a differential tissue‐specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic coppe... per Ondruskova, Nina, Honzik, Tomas, Vondrackova, Alzbeta, Stranecky, Viktor, Tesarova, Marketa, Zeman, Jiri, Hansikova, Hana

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Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant per Dudakova, Lubica, Skalicka, Pavlina, Ulmanová, Olga, Hlozanek, Martin, Stranecky, Viktor, Malinka, Frantisek, Vincent, Andrea L., Liskova, Petra

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Early isolated V-lesion may not truly represent rejection of the kidney allograft per Wohlfahrtova, Mariana, Hruba, Petra, Klema, Jiri, Novotny, Marek, Krejcik, Zdenek, Stranecky, Viktor, Honsova, Eva, Vichova, Petra, Viklicky, Ondrej

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A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype per Hancarova, Miroslava, Babikyan, Davit, Bendova, Sarka, Midyan, Susanna, Prchalova, Darina, Shahsuvaryan, Gohar, Stranecky, Viktor, Sarkisian, Tamara, Sedlacek, Zdenek

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Molecular Fingerprints of Borderline Changes in Kidney Allografts Are Influenced by Donor Category per Hruba, Petra, Krejcik, Zdenek, Dostalova Merkerova, Michaela, Klema, Jiri, Stranecky, Viktor, Slatinska, Janka, Maluskova, Jana, Honsova, Eva, Viklicky, Ondrej

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Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders per Vondráčková, Alžběta, Veselá, Kateřina, Kratochvílová, Hana, Kučerová Vidrová, Vendula, Vinšová, Kamila, Stránecký, Viktor, Honzík, Tomáš, Hansíková, Hana, Zeman, Jiří, Tesařová, Markéta

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Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles per Dudakova, Lubica, Stranecky, Viktor, Piherova, Lenka, Palecek, Tomas, Pontikos, Nikolas, Kmoch, Stanislav, Skalicka, Pavlina, Vaneckova, Manuela, Davidson, Alice E., Liskova, Petra

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Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing per Jedličková, Ivana, Přistoupilová, Anna, Nosková, Lenka, Majer, Filip, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Hýblová, Michaela, Solár, Peter, Minárik, Gabriel, Giertlová, Mária, Kmoch, Stanislav

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Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3 per Liskova, Petra, Evans, Cerys J, Davidson, Alice E, Zaliova, Marketa, Dudakova, Lubica, Trkova, Marie, Stranecky, Viktor, Carnt, Nicole, Plagnol, Vincent, Vincent, Andrea L, Tuft, Stephen J, Hardcastle, Alison J

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LncRNA Profiling Reveals That the Deregulation of H19, WT1-AS, TCL6, and LEF1-AS1 Is Associated with Higher-Risk Myelodysplastic Syndrome per Szikszai, Katarina, Krejcik, Zdenek, Klema, Jiri, Loudova, Nikoleta, Hrustincova, Andrea, Belickova, Monika, Hruba, Monika, Vesela, Jitka, Stranecky, Viktor, Kundrat, David, Pecherkova, Pavla, Cermak, Jaroslav, Jonasova, Anna, Dostalova Merkerova, Michaela

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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females per Zikánová, Marie, Wahezi, Dawn, Hay, Arielle, Stibůrková, Blanka, Pitts, Charles, Mušálková, Dita, Škopová, Václava, Barešová, Veronika, Součková, Olga, Hodaňová, Kateřina, Živná, Martina, Stránecký, Viktor, Hartmannová, Hana, Hnízda, Ales, Bleyer, Anthony J, Kmoch, Stanislav

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes per Soukupova, Jana, Zemankova, Petra, Lhotova, Klara, Janatova, Marketa, Borecka, Marianna, Stolarova, Lenka, Lhota, Filip, Foretova, Lenka, Machackova, Eva, Stranecky, Viktor, Tavandzis, Spiros, Kleiblova, Petra, Vocka, Michal, Hartmannova, Hana, Hodanova, Katerina, Kmoch, Stanislav, Kleibl, Zdenek

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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing per Jedličková, Ivana, Cadieux-Dion, Maxime, Přistoupilová, Anna, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Hůlková, Helena, Sikora, Jakub, Nosková, Lenka, Mušálková, Dita, Vyleťal, Petr, Sovová, Jana, Cossette, Patrick, Andermann, Eva, Andermann, Frederick, Kmoch, Stanislav

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Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes per Stolarova, Lenka, Jelinkova, Sandra, Storchova, Radka, Machackova, Eva, Zemankova, Petra, Vocka, Michal, Kodet, Ondrej, Kral, Jan, Cerna, Marta, Volkova, Zuzana, Janatova, Marketa, Soukupova, Jana, Stranecky, Viktor, Dundr, Pavel, Foretova, Lenka, Macurek, Libor, Kleiblova, Petra, Kleibl, Zdenek

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Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F(1)F(o )ATP synt... per Čížková, Alena, Stránecký, Viktor, Ivánek, Robert, Hartmannová, Hana, Nosková, Lenka, Piherová, Lenka, Tesařová, Markéta, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Divina, Petr, Potocká, Andrea, Paul, Jan, Sperl, Wolfgang, Mayr, Johannes A, Seneca, Sara, Houštĕk, Josef, Kmoch, Stanislav

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Mutation of NgBR, a subunit of cis-prenyltransferase, causes a congenial disorder of glycosylation per Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.

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Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4 per Liskova, Petra, Dudakova, Lubica, Evans, Cerys J., Rojas Lopez, Karla E., Pontikos, Nikolas, Athanasiou, Dimitra, Jama, Hodan, Sach, Josef, Skalicka, Pavlina, Stranecky, Viktor, Kmoch, Stanislav, Thaung, Caroline, Filipec, Martin, Cheetham, Michael E., Davidson, Alice E., Tuft, Stephen J., Hardcastle, Alison J.

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis per Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav

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