A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study
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Published in British journal of haematology (27.08.2024)
Published in British journal of haematology (27.08.2024)
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Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome
Doubková, Martina, Vrzalová, Zuzana, Štefániková, Marianna, Červinek, Libor, Kozubík, Kateřina Staňo, Blaháková, Ivona, Pospíšilová, Šárka, Doubek, Michael
Published in Multidisciplinary respiratory medicine (05.06.2023)
Published in Multidisciplinary respiratory medicine (05.06.2023)
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MicroRNA-210 expression during childbirth and postpartum as a potential biomarker of acute fetal hypoxia
Vonkova, Barbara, Blahakova, Ivona, Hruban, Lukas, Janku, Petr, Pospisilova, Sarka
Published in Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia (01.09.2019)
Published in Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia (01.09.2019)
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Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy
Trizuljak, Jakub, Duben, Jakub, Blaháková, Ivona, Vrzalová, Zuzana, Kozubík, Kateřina Staňo, Štika, Jiří, Radová, Lenka, Bergerová, Veronika, Mejstříková, Soňa, Hořínová, Věra, Jancalek, Radim, Pospíšilová, Šárka, Doubek, Michael
Published in Molecular syndromology (01.10.2023)
Published in Molecular syndromology (01.10.2023)
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Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin
Trizuljak, Jakub, Petruchová, Terezie, Blaháková, Ivona, Vrzalová, Zuzana, Hořínová, Věra, Doubková, Martina, Michalka, Jozef, Mayer, Jiří, Pospíšilová, Šárka, Doubek, Michael
Published in Molecular syndromology (01.06.2020)
Published in Molecular syndromology (01.06.2020)
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A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome
Skalníková, Magdalena, Staňo Kozubík, Kateřina, Trizuljak, Jakub, Vrzalová, Zuzana, Radová, Lenka, Réblová, Kamila, Holbová, Radka, Kurucová, Terézia, Svozilová, Hana, Štika, Jiří, Blaháková, Ivona, Dvořáčková, Barbara, Prudková, Marie, Stehlíková, Olga, Šmída, Michal, Křen, Leoš, Smejkal, Petr, Pospíšilová, Šárka, Doubek, Michael
Published in International journal of molecular sciences (14.01.2022)
Published in International journal of molecular sciences (14.01.2022)
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Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree
Trizuljak, Jakub, Likavcová, Paulína, Staňo Kozubík, Kateřina, Vrzalová, Zuzana, Hynšt, Jakub, Deissová, Tereza, Štika, Jiří, Radová, Lenka, Prudková, Marie, Vaculová, Jana, Blaháková, Ivona, Smejkal, Petr, Kamelander, Jan, Pospíšilová, Šárka, Doubek, Michael
Published in Platelets (Edinburgh) (01.12.2024)
Published in Platelets (Edinburgh) (01.12.2024)
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Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report
Doubková, Martina, Trizuljak, Jakub, Vrzalová, Zuzana, Hrazdirová, Anna, Blaháková, Ivona, Radová, Lenka, Pospíšilová, Šárka, Doubek, Michael
Published in BMC pulmonary medicine (16.10.2019)
Published in BMC pulmonary medicine (16.10.2019)
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2022-RA-1304-ESGO Molecular testing of endometrial carcinoma brings growing opportunity to identify patients with inherited risk of cancer
Bednarikova, Marketa, Hausnerova, Jitka, Minar, Lubos, Trizuljak, Jakub, Blahakova, Ivona, Ehrlichova, Lucie, Vinklerova, Petra, Felsinger, Michal, Matulova, Kvetoslava, Ovesna, Petra, Weinberger, Vit
Published in International journal of gynecological cancer (20.10.2022)
Published in International journal of gynecological cancer (20.10.2022)
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Complex analysis of the p53 tumor suppressor in lung carcinoma
SMARDOVA, JANA, LISKOVA, KVETOSLAVA, RAVCUKOVA, BARBORA, MALCIKOVA, JITKA, HAUSNEROVA, JITKA, SVITAKOVA, MILUSE, HRABALKOVA, RENATA, ZLAMALIKOVA, LENKA, STANO-KOZUBIK, KATERINA, BLAHAKOVA, IVONA, SPELDOVA, JANA, JARKOVSKY, JIRI, SMARDA, JAN
Published in Oncology reports (01.03.2016)
Published in Oncology reports (01.03.2016)
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Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement
Kozak, Libor, Hrabincova, Eva, Kintr, Jaromir, Horky, Ondrej, Zapletalova, Petra, Blahakova, Ivona, Mejstrik, Pavel, Prochazkova, Dagmar
Published in Molecular genetics and metabolism (01.12.2006)
Published in Molecular genetics and metabolism (01.12.2006)
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A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement
Szabó, Gabriella P., Oláh, Anna V., Kozak, Libor, Balogh, Erzsébet, Nagy, Andrea, Blahakova, Ivona, Oláh, Éva
Published in European journal of pediatrics (2010)
Published in European journal of pediatrics (2010)
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A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR 7 gene and effects of therapy with simvastatin and cholesterol supplement
SZABO, Gabriella P, OLAH, Anna V, KOZAK, Libor, BALOGH, Erzsébet, NAGY, Andrea, BLAHAKOVA, Ivona, OLAH, Eva
Published in European journal of pediatrics (2010)
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Published in European journal of pediatrics (2010)
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Molecular testing of endometrial carcinoma in real-world clinical practice
Bednaříková, M, Hausnerová, J, Minář, L, Taslerová, R, Vinklerová, P, Ehrlichová, L, Trizuljak, J, Blaháková, I, Princ, D, Matulová, K, Ovesná, P, Slabý, O, Weinberger, V
Published in Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti (2023)
Published in Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti (2023)
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