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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Journal Article
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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Journal Article
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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Journal Article
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome
Trizuljak, Jakub, Kozubík, Kateřina Staňo, Radová, Lenka, Pešová, Michaela, Pál, Karol, Réblová, Kamila, Stehlíková, Olga, Smejkal, Petr, Zavřelová, Jiřina, Pacejka, Milan, Mayer, Jiří, Pospíšilová, Šárka, Doubek, Michael
Published in Platelets (Edinburgh) (01.12.2018)
Published in Platelets (Edinburgh) (01.12.2018)
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Journal Article
C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies
Staňo Kozubík, Kateřina, Radová, Lenka, Pešová, Michaela, Réblová, Kamila, Trizuljak, Jakub, Plevová, Karla, Fiamoli, Veronika, Gumulec, Jaromír, Urbánková, Helena, Szotkowski, Tomáš, Mayer, Jiří, Pospíšilová, Šárka, Doubek, Michael
Published in International journal of hematology (01.12.2018)
Published in International journal of hematology (01.12.2018)
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Journal Article
A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia
Doubková, Martina, Staňo Kozubík, Kateřina, Radová, Lenka, Pešová, Michaela, Trizuljak, Jakub, Pál, Karol, Svobodová, Klára, Réblová, Kamila, Svozilová, Hana, Vrzalová, Zuzana, Pospíšilová, Šárka, Doubek, Michael
Published in Human genome variation (05.03.2019)
Published in Human genome variation (05.03.2019)
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Journal Article
Incidental Germline Findings During Comprehensive Genomic Profiling of Pancreatic and Colorectal Cancer: Single-center, Molecular Tumor Board Experience
Eid, Michal, Trizuljak, Jakub, Taslerova, Renata, Gryc, Martin, Vlazny, Jakub, Vilmanova, Sara, Jelinkova, Martina, Homolova, Alena, Tucek, Stepan, Hlavsa, Jan, Grolich, Tomas, Kala, Zdenek, Kral, Zdenek, Slaby, Ondrej
Published in Mutagenesis (22.05.2024)
Published in Mutagenesis (22.05.2024)
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Journal Article
A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study
Štika, Jiří, Pešová, Michaela, Kozubík, Kateřina Staňo, Skalníková, Magdalena, Dostálová, Lenka, Loja, Tomáš, Radová, Lenka, Palušová, Veronika, Réblová, Kamila, Vrzalová, Zuzana, Blaháková, Ivona, Trizuljak, Jakub, Uldrijan, Stjepan, Blatný, Jan, Šmída, Michal, Pospíšilová, Šárka, Doubek, Michael
Published in British journal of haematology (27.08.2024)
Published in British journal of haematology (27.08.2024)
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Journal Article
Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification
Trizuljak, Jakub, Sperr, Wolfgang R., Nekvindová, Lucie, Elberink, Hanneke O., Gleixner, Karoline V., Gorska, Aleksandra, Lange, Magdalena, Hartmann, Karin, Illerhaus, Anja, Bonifacio, Massimiliano, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Fortina, Anna B., Shoumariyeh, Khalid, Jawhar, Mohamad, Zanotti, Roberta, Bonadonna, Patrizia, Caroppo, Francesca, Zink, Alexander, Triggiani, Massimo, Parente, Roberta, Bubnoff, Nikolas, Yavuz, Akif S., Hägglund, Hans, Mattsson, Mattias, Panse, Jens, Jäkel, Nadja, Kilbertus, Alex, Hermine, Olivier, Arock, Michel, Fuchs, David, Sabato, Vito, Brockow, Knut, Bretterklieber, Agnes, Niedoszytko, Marek, Anrooij, Björn, Reiter, Andreas, Gotlib, Jason, Kluin‐Nelemans, Hanneke C., Mayer, Jiri, Doubek, Michael, Valent, Peter
Published in Allergy (Copenhagen) (01.08.2020)
Published in Allergy (Copenhagen) (01.08.2020)
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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
Ofatumumab added to dexamethasone in patients with relapsed or refractory chronic lymphocytic leukemia: Results from a phase II study
Doubek, Michael, Brychtova, Yvona, Panovska, Anna, Sebejova, Ludmila, Stehlikova, Olga, Chovancova, Jana, Malcikova, Jitka, Smardova, Jana, Plevova, Karla, Volfova, Pavlina, Trbusek, Martin, Mraz, Marek, Bakesova, Denisa, Trizuljak, Jakub, Hadrabova, Marketa, Obrtlikova, Petra, Karban, Josef, Smolej, Lukas, Oltova, Alexandra, Jelinkova, Eva, Pospisilova, Sarka, Mayer, Jiri
Published in American journal of hematology (01.05.2015)
Published in American journal of hematology (01.05.2015)
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Journal Article
Ofatumumab Added To Dexamethasone In Patients With Relapsed Or Refractory Chronic Lymphocytic Leukemia. Results From a Phase II Study Of The Czech Leukemia Study Group For Life
Doubek, Michael, Brychtova, Yvona, Panovska, Anna, Trizuljak, Jakub, Sebejova, Ludmila, Stehlikova, Olga, Chovancova, Jana, Malcikova, Jitka, Smardova, Jana, Plevova, Karla, Volfova, Pavlina, Trbusek, Martin, Mraz, Marek, Majercakova, Denisa, Obrtlikova, Petra, Karban, Josef, Smolej, Lukas, Lindtnerova, Michaela, Oltova, Alexandra, Jelinkova, Eva, Pospisilova, Sarka, Mayer, Jiri
Published in Blood (15.11.2013)
Published in Blood (15.11.2013)
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Journal Article
Analysis of Prognostic Significance of Merkel Cell Polyomavirus in Chronic Lymphocytic Leukemia
Trizuljak, Jakub, Srovnal, Josef, Plevová, Karla, Brychtová, Yvona, Semerád, Lukáš, Bakešová, Denisa, Létalová, Eva, Benedíková, Andrea, Mayer, Jiří, Hajdúch, Marián, Pospíšilová, Šárka, Doubek, Michael
Published in Clinical lymphoma, myeloma and leukemia (01.07.2015)
Published in Clinical lymphoma, myeloma and leukemia (01.07.2015)
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Journal Article
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome
Trizuljak, Jakub, Kozubík, Kateřina Staňo, Radová, Lenka, Pešová, Michaela, Pál, Karol, Réblová, Kamila, Stehlíková, Olga, Smejkal, Petr, Zavřelová, Jiřina, Pacejka, Milan, Mayer, Jiří, Pospíšilová, Šárka, Doubek, Michael
Published in Platelets (17.11.2018)
Published in Platelets (17.11.2018)
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