Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Ivan Šubrt"'
Autor:
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
Publikováno v:
Cancer Medicine, Vol 13, Iss 16, Pp n/a-n/a (2024)
Abstract Background Monoallelic germline pathogenic variants (GPVs) in five Fanconi anemia (FA) genes (BRCA1/FANCS, BRCA2/FANCD1, PALB2/FANCN, BRIP1/FANCJ, and RAD51C/FANCO) confer an increased risk of breast (BC) and/or ovarian (OC) cancer, but the
Externí odkaz:
https://doaj.org/article/a729e3f3d4b64ad89ec8fbe20e608bd3
Autor:
Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a
Externí odkaz:
https://doaj.org/article/0477920311324cb1b6923674509fc056
Autor:
Lukáš Strych, Monika Černá, Markéta Hejnalová, Tomáš Zavoral, Pavla Komrsková, Jitka Tejcová, Ibrahim Bitar, Eva Sládková, Josef Sýkora, Ivan Šubrt
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Background X-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single nucleotide variants and small insertions/deletions in AVPR2 are reliably detected by routine cli
Externí odkaz:
https://doaj.org/article/ebd27e127bc444189534dad8a749d4f7
Autor:
Alice Krebsová, Štěpánka Pohlová Kučerová, Pavel Votýpka, Petra Peldová, Markéta Kulvajtová, Petra Dohnalová, Matěj Bílek, Veronika Stufka, Kristina Rücklová, Iva Grossová, Hanka Wünschová, Terezia Tavačová, Jana Hašková, Markéta Segeťová, Andrea Gřegořová, Veronika Zoubková, Jana Petřková, Martin Dobiáš, Michal Makuša, Alžběta Blanková, David Veitr, Hynek Řehulka, Ivan Šubrt, Alexander Pilin, Petr Tomášek, Jan Janoušek, Josef Kautzner, Milan Macek
Publikováno v:
Cor et Vasa. 65:7-22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::530c3a53329fa508a15eebf2b49b8186
https://doi.org/10.33678/cor.2022.059
https://doi.org/10.33678/cor.2022.059
Autor:
Pavel Votýpka, Alice Krebsová, Patricia Norambuena-Poustková, Petra Peldová, Štěpánka Pohlová Kučerová, Markéta Kulvajtová, Petra Dohnalová, Matěj Bílek, Veronika Stufka, Kristina Rücklová, Iva Grossová, Hanka Wünschová, Terezia Tavačová, Jana Hašková, Markéta Segeťová, Jakub Štoček, Andrea Gřegořová, Veronika Zoubková, Jana Petřková, Martin Dobiáš, Michal Makuša, Alžběta Blanková, David Vajtr, Hynek Řehulka, Ivan Šubrt, Alexander Pilin, Petr Tomášek, Jan Janoušek, Josef Kautzner, Milan Macek
Publikováno v:
International Journal of Legal Medicine.
Sudden cardiac death (SCD) might have an inherited cardiac condition background. Genetic testing supports post-mortem diagnosis and screening of relatives at risk. Our aim is to determine the feasibility of a Czech national collaboration group and to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ada0e0bb3de74310533df724d41bbbbd
https://doi.org/10.1007/s00414-023-03007-z
https://doi.org/10.1007/s00414-023-03007-z
Autor:
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
Publikováno v:
Breast, Vol 75, Iss , Pp 103721- (2024)
Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature
Externí odkaz:
https://doaj.org/article/550a6d19812d49439f776d55972c1a43
Autor:
Jana Soukupova, Petra Zemankova, Petr Nehasil, Zdenek Kleibl, Zdeněk Kleibl, Jana Soukupová, Markéta Janatová, Petra Zemánková, Marta Černá, Sandra Jelínková, Jan Král, Eva MacháČková, Lenka Foretová, Dita anousková, Spiros Tavandzis, Věra Krutílková, Barbora Roszková, Monika Koudová, Filip Lhota, Leona Černá, Jana Vávrová, Petra Kleiblová, Markéta Urbanová, Michal VoČka, Jan Novotný, Ondřej Havránek, Lucie Hrušková, Renáta Michalovská, Zdeňka VlČková, Denisa Schwetzová, Monika Černá, Markéta Hejnalová, Nikol JedliČková, Ivan šubrt, Tomáš Zavoral, Marcela Kosařová, Gabriela Vacínová, Mária Janíková, Romana Kratochvílová, Václava Curtisová, Ondřej Scheinost, Petra Dušková, Viktor Stránecký, Libor Macůrek
Publikováno v:
European journal of cancer (Oxford, England : 1990). 150
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9678ba11eedd02517caa56bb036fbae3
https://pubmed.ncbi.nlm.nih.gov/33888390
https://pubmed.ncbi.nlm.nih.gov/33888390
Publikováno v:
Casopis lekaru ceskych. 158(1)
Rapid development of clinical genetics was enabled by the advances of molecular genetic laboratory diagnostics. Genetic laboratory testing has unique characteristics, and results of germinal genome testing has consequences not only for the patient bu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ca24cb971e8afc211bdbc520550637a8
https://pubmed.ncbi.nlm.nih.gov/31046391
https://pubmed.ncbi.nlm.nih.gov/31046391
Autor:
Renata Pomahacova, Petra Paterova, Eva Nykodymova, Eliska Vaclavikova, Pavla Sykorova, Katerina Personova, Ramir Katra, Ivan Subrt, Josef Sykora
Publikováno v:
Biomedical Papers, Vol 166, Iss 1, Pp 105-111 (2022)
Background. We describe early and typical nonendocrine symptoms of Multiple Endocrine Neoplasia type 2B (MEN2B) presented in our patients with de novo M918T mutation in the RET proto-oncogene in early childhood, however, the diagnosis of MEN2B and me
Externí odkaz:
https://doaj.org/article/662a3280e1ca4c23806c7841c615f859
Publikováno v:
Actual Gynecology & Obstetrics / Aktuální Gynekologie a Porodnictví; 2017, Vol. 9, p10-13, 4p