Hasil Pencarian - Viktor Stránecký

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  1. 1
    Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

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

    Diterbitkan 2021-04-01
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  2. 2
    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 phenotype: case report

    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... oleh Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek

    Diterbitkan 2017-06-01
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  3. 3
    Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant

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

    Diterbitkan 2020-01-01
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  4. 4
    Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates

    Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates oleh Anna Chaloupka, Lenka Piherova, Ilga Grochova, Jana Binova, Jan Krejci, Lenka Spinarova, Viktor Stranecky, Stanislav Kmoch, Milos Kubanek

    Diterbitkan 2019-12-01
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  5. 5
    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

    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 oleh Miroslava Hancarova, Davit Babikyan, Sarka Bendova, Susanna Midyan, Darina Prchalova, Gohar Shahsuvaryan, Viktor Stranecky, Tamara Sarkisian, Zdenek Sedlacek

    Diterbitkan 2019-09-01
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  6. 6
    A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation

    A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation oleh Marketa Vlckova, Darina Prchalova, Pavel Zimmermann, Jana Haberlova, Sarka Bendova, Veronika Moslerova, Viktor Stranecky, Zdenek Sedlacek, Miroslava Hancarova

    Diterbitkan 2023-06-01
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  7. 7
    Molecular Fingerprints of Borderline Changes in Kidney Allografts Are Influenced by Donor Category

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

    Diterbitkan 2020-03-01
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  8. 8
    ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

    ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability oleh Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova

    Diterbitkan 2023-04-01
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  9. 9
    Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

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

    Diterbitkan 2020-07-01
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  10. 10
    Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome

    Haplotype variability in mitochondrial rRNA predisposes to metabolic syndrome oleh Petr Pecina, Kristýna Čunátová, Vilma Kaplanová, Guillermo Puertas-Frias, Jan Šilhavý, Kateřina Tauchmannová, Marek Vrbacký, Tomáš Čajka, Ondřej Gahura, Markéta Hlaváčková, Viktor Stránecký, Stanislav Kmoch, Michal Pravenec, Josef Houštěk, Tomáš Mráček, Alena Pecinová

    Diterbitkan 2024-09-01
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  11. 11
    Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

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

    Diterbitkan 2018-01-01
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  12. 12
    Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes

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

    Diterbitkan 2020-10-01
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  13. 13
    Sodium-glucose cotransporter 2 inhibitors induce anti-inflammatory and anti-ferroptotic shift in epicardial adipose tissue of subjects with severe heart failure

    Sodium-glucose cotransporter 2 inhibitors induce anti-inflammatory and anti-ferroptotic shift in epicardial adipose tissue of subjects with severe heart failure oleh Barbora Judita Kasperova, Milos Mraz, Petr Svoboda, Daniel Hlavacek, Helena Kratochvilova, Istvan Modos, Nikola Vrzackova, Peter Ivak, Petra Janovska, Tatyana Kobets, Jakub Mahrik, Martin Riecan, Lenka Steiner Mrazova, Viktor Stranecky, Ivan Netuka, Tomas Cajka, Ondrej Kuda, Vojtech Melenovsky, Sona Stemberkova Hubackova, Martin Haluzik

    Diterbitkan 2024-06-01
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  14. 14
    A comprehensive analysis of germline predisposition to early-onset ovarian cancer

    A comprehensive analysis of germline predisposition to early-onset ovarian cancer oleh Klara Horackova, Petra Zemankova, Petr Nehasil, Michal Vocka, Milena Hovhannisyan, Katerina Matejkova, Marketa Janatova, Marta Cerna, Petra Kleiblova, Sandra Jelinkova, Barbora Stastna, Pavel Just, Tatana Dolezalova, Barbora Nemcova, Marketa Urbanova, Monika Koudova, Jana Hazova, Eva Machackova, Lenka Foretova, Viktor Stranecky, Michal Zikan, Zdenek Kleibl, Jana Soukupova

    Diterbitkan 2024-07-01
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  15. 15
    De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

    De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. oleh Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stranecky, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Cyril Mignot, Marlene Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper

    Diterbitkan 2018-11-01
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  16. 16
    POLRMT mutations impair mitochondrial transcription causing neurological disease

    POLRMT mutations impair mitochondrial transcription causing neurological disease oleh Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor

    Diterbitkan 2021-02-01
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  17. 17
    A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition

    A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition oleh Petra Zemankova, Marta Cerna, Klara Horackova, Corinna Ernst, Jana Soukupova, Marianna Borecka, Britta Blümcke, Leona Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Dvorakova, Lenka Foretova, Ondrej Havranek, Jan Hauke, Eric Hahnen, Miloslava Hodulova, Milena Hovhannisyan, Lucie Hruskova, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Adela Misove, Petr Nehasil, Barbora Nemcova, Jan Novotny, Ales Panczak, Pavel Pesek, Ondrej Scheinost, Drahomira Springer, Barbora Stastna, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Barbara Wappenschmidt, Tomas Zima, Zdenek Kleibl, Petra Kleiblova

    Diterbitkan 2024-06-01
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  18. 18
    A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer

    A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer oleh Jana Soukupova, Barbora Stastna, Madiha Kanwal, Jan Hojny, Petra Zemankova, Marianna Borecka, Leona Cerna, Marta Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Lucie Hruskova, Stepan Chvojka, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marta Kalousova, Petra Kleiblova, Marcela Kosarova, Monika Koudova, Jan Kral, Michaela Krausova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Petr Nehasil, Barbora Nemcova, Jan Novotny, Matous Palek, Pavel Pesek, Marketa Safarikova, Ondrej Scheinost, Drahomira Springer, Lenka Stolarova, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Tomas Zima, Libor Macurek, Zdenek Kleibl, the CZECANCA consortium

    Diterbitkan 2024-08-01
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