Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Václava Curtisová"'
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:
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:
Andrea Stefekova, Pavlina Capkova, Zuzana Capkova, Vaclava Curtisova, Josef Srovnal, Enkhjargalan Mracka, Eva Klaskova, Martin Prochazka
Publikováno v:
Biomedical Papers, Vol 166, Iss 2, Pp 187-194 (2022)
Aims. The aim of this retrospective study was to determine the detection rate of the pathogenic copy number variants (CNVs) in a cohort of 33 foetuses - 32 with CHD (congenital heart defects) and 1 with kidney defect, after exclusion of common aneupl
Externí odkaz:
https://doaj.org/article/d7895605c7434adb8be9ddb11e1edc9d
Autor:
Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch, Martin Prochazka
Publikováno v:
PeerJ, Vol 7, p e7979 (2019)
Background Autism spectrum disorders (ASD) and intellectual disabilities (ID) are heterogeneous and complex developmental diseases with significant genetic backgrounds and overlaps of genetic susceptibility loci. Copy number variants (CNVs) are known
Externí odkaz:
https://doaj.org/article/53b88db70a184c60b74f990519ae0e3b
Autor:
Pavlina Capkova, Josef Srovnal, Zuzana Capkova, Katerina Staffova, Vera Becvarova, Marie Trkova, Katerina Adamova, Alena Santava, Vaclava Curtisova, Marian Hajduch, Martin Prochazka
Publikováno v:
PeerJ, Vol 6, p e6183 (2019)
Background Autism spectrum disorder (ASD) is a complex heterogeneous developmental disease with a significant genetic background that is frequently caused by rare copy number variants (CNVs). Microarray-based whole-genome approaches for CNV detection
Externí odkaz:
https://doaj.org/article/7c491a56a7504a0fa1f5977b5c6a5216
Autor:
Michaela, Maděrková Tozzi, Vladimír, Dvořák Jr., Eva, Klásková, Soňa, Šuláková, Martin, Wita, Jan, Hálek, Radek, Vrtěl, Václava, Curtisová, Radovan, Pilka, Ladislav, Dušek, Marek, Ľubušký
Publikováno v:
Česká gynekologie. 87:162-172
Objective: The aim of the study was to analyze the results of the screening for congenital defects (CD) and genetic diseases (GD) of the fetus in the Fetal Medicine Centre at the Department of Obstetrics and Gynecology, University Hospital in Olomouc
Autor:
Romana Kozumplíková, Martin Jouza, Barbora Ravčuková, Eva Hlaváčková, Eva Karásková, Marta Ježová, Tereza Pinkasová, Hana Bučková, Tomáš Freiberger, Jakub Pecl, Petr Jabandžiev, Václava Curtisová, Hana Grombiříková, Kateřina Slabá, Viktor Bíly, Lumír Kunovský
Publikováno v:
Gastroenterologie a hepatologie. 74:481-487
Prezentujeme kazuistiku pacienta se somatickou retardaci a abnormalnim vzhledem vlasů, který trpěl opakovanými epizodami vodnateho hlenoviteho průjmu, postihem jaternich funkci a neprospivanim. U pacienta byly pozorovany těžke průběhy infekc
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
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
Autor:
Štefeková Andrea, Čapková Pavlína, Curtisová Václava, Mracká Enghjargalan, Filipová Hana, Spurná Zuzana, Procházka Martin, Ľubušký Marek, Pilka Radovan, Vrtěl Radek
Publikováno v:
Ceska gynekologie [Ceska Gynekol] 2023; Vol. 88 (3), pp. 162-171.