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    2023

    1. STAŇO KOZUBÍK, Kateřina, Zuzana VRZALOVÁ, Jakub TRIZULJAK, Jakub HYNŠT, Paulína LIKAVCOVÁ, Petr SMEJKAL, Lenka RADOVÁ, Jiří ŠTIKA, Ivona BLAHÁKOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Analýza variant genu ANKRD 26 v 5´ nepřekládané oblasti u kohorty pacientů s podezřením na dědičné hematologické onemocnění. In 23. Pražské hematologické dny. 2023.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 15/2/2023 13:38.
    2. TRIZULJAK, Jakub, Jakub DUBEN, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Kateřina STAŇO KOZUBÍK, Jiří ŠTIKA, Lenka RADOVÁ, Veronika BERGEROVÁ, Soňa MEJSTŘÍKOVÁ, Věra HOŘÍNOVÁ, Radim JANČÁLEK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy. Molecular Syndromology. Basel: S. Karger, vol. 14, No 5, p. 439-448. ISSN 1661-8769. doi:10.1159/000528744. 2023.
      URL
      RIV: Article in a journal. English. Switzerland.
      Trizuljak, Jakub (703 Slovakia, guarantor, belonging to the institution) -- Duben, Jakub (703 Slovakia, belonging to the institution) -- Blaháková, Ivona (203 Czech Republic, belonging to the institution) -- Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Štika, Jiří (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Bergerová, Veronika (703 Slovakia, belonging to the institution) -- Mejstříková, Soňa (203 Czech Republic, belonging to the institution) -- Hořínová, Věra (203 Czech Republic, belonging to the institution) -- Jančálek, Radim (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution)
      Keywords in English: 22q12 deletion; Microdeletion syndrome; Bilateral schwannoma; NF2
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Eva Dubská, učo 77638. Changed: 9/3/2024 12:40.
    3. VRZALOVÁ, Zuzana, Lenka RADOVÁ, Kateřina STAŇO KOZUBÍK, Jiří ŠTIKA, Jakub TRIZULJAK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Genetická diagnostika familiárních onemocnění krvetvorby. In XLVII. Brněnské onkologické dny in Klinická Onkologie. 2023.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 5/1/2024 10:23.
    4. SOUČEK, Přemysl, Ivona BLAHÁKOVÁ, Kamila RÉBLOVÁ, Michael DOUBEK, Jakub TRIZULJAK, Rastislav BEHARKA, Robert HELMA, Zuzana VRZALOVÁ, Kateřina STAŇO KOZUBÍK, Šárka POSPÍŠILOVÁ and Tomáš FREIBERGER. Impact of an intronic variant in RAD50 on RNA splicing due to inefficient branch point recognition. In European Human Genetics Conference (ESHG), Glasgow, United Kingdom. 2023.
      URL
      RIV: Conference abstract. English. United Kingdom of Great Britain and Northern Ireland.
      Souček, Přemysl (203 Czech Republic, belonging to the institution) -- Blaháková, Ivona (203 Czech Republic, belonging to the institution) -- Réblová, Kamila (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Beharka, Rastislav (703 Slovakia, belonging to the institution) -- Helma, Robert (203 Czech Republic, belonging to the institution) -- Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, guarantor, belonging to the institution) -- Freiberger, Tomáš (203 Czech Republic, belonging to the institution)
      Keywords in English: Intronic variants; RNA splicing; RAD50 gene; MaxEntScan; LaBranchoR
      Type of participation: active participation (giving a lecture, organization, etc.)
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Eva Dubská, učo 77638. Changed: 24/3/2024 23:31.
    5. BLAHÁKOVÁ, Ivona, Robert HELMA, Přemysl SOUČEK, Jakub TRIZULJAK, Rastislav BEHARKA, Zuzana VRZALOVÁ, Jiří ŠTIKA, Kateřina STAŇO KOZUBÍK, Kamila RÉBLOVÁ, Michael DOUBEK and Šárka POSPÍŠILOVÁ. Intronová varianta v RAD50 způsobující neefektivní rozpoznávání místa větvení a neočekávaný aberantní sestřih. (An intronic variant in RAD50 causing inefficient branch site recognition and unexpected aberrant splicing.). In 56. Výroční cytogenomická konference, Ostrava. 2023.
      URL
      Name (in English): An intronic variant in RAD50 causing inefficient branch site recognition and unexpected aberrant splicing.
      RIV: Conference abstract. Czech. Czech Republic.
      Blaháková, Ivona (203 Czech Republic, belonging to the institution) -- Helma, Robert (203 Czech Republic, belonging to the institution) -- Souček, Přemysl (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Beharka, Rastislav (703 Slovakia, belonging to the institution) -- Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Štika, Jiří (203 Czech Republic, belonging to the institution) -- Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Réblová, Kamila (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, guarantor, belonging to the institution)
      Keywords in English: intron variant; aberant RNA splicing; in silico; SpliceAI; MxEntScan; LaBranchoR
      Type of participation: active participation (giving a lecture, organization, etc.)
      Reviewed: yes

      Changed by: Mgr. Eva Dubská, učo 77638. Changed: 27/3/2024 16:08.
    6. BLAHÁKOVÁ, Ivona, Robert HELMA, Přemysl SOUČEK, Jakub TRIZULJAK, Rastislav BEHARKA, Zuzana VRZALOVÁ, Jiří ŠTIKA, Kateřina STAŇO KOZUBÍK, Michael DOUBEK and Šárka POSPÍŠILOVÁ. Komplexní diagnostika hereditárních nádorových syndromů pomocí NGS panelu Bronco a dalších molekulárních metod. In XLVII. Brněnské onkologické dny in Klinická Onkologie. 2023.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 5/1/2024 10:27.
    7. VRZALOVÁ, Zuzana, Lenka RADOVÁ, Kateřina STAŇO KOZUBÍK, Jiří ŠTIKA, Jana JEDLIČKOVÁ, Jakub TRIZULJAK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Korelace fenotypu a genotypu u dvou rodin s hereditární sférocytózou. In 56. Výroční cytogenomická konference, Ostrava. 2023.
      URL
      RIV: Conference abstract. English. Czech Republic.
      Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Štika, Jiří (203 Czech Republic, belonging to the institution) -- Jedličková, Jana (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, guarantor, belonging to the institution)
      Keywords in English: anemia; hemoglobin; hereditary spherocytosis
      Type of participation: active participation (giving a lecture, organization, etc.)
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Eva Dubská, učo 77638. Changed: 27/3/2024 21:09.
    8. BEDNAŘÍKOVÁ, Markéta, Jitka HAUSNEROVÁ, Luboš MINÁŘ, Renata TASLEROVÁ, Petra VINKLEROVÁ, Lucie EHRLICHOVÁ, Jakub TRIZULJAK, Ivona BLAHÁKOVÁ, Denis PRINC, Květoslava MATULOVÁ, Petra OVESNÁ, Ondřej SLABÝ and Vít WEINBERGER. Molekulární testování karcinomu endometria - analýza prvních zkušeností z klinické praxe (Molecular testing of endometrial carcinoma in real-world clinical practice). Klinická onkologie. Praha: Česká lékařská společnost J. E. Purkyně, vol. 36, No 3, p. 215-223. ISSN 0862-495X. doi:10.48095/ccko2023215. 2023.
      URL
      Name (in English): Molecular testing of endometrial carcinoma in real-world clinical practice
      RIV: Article in a journal. Czech. Czech Republic.
      Bednaříková, Markéta (203 Czech Republic, guarantor, belonging to the institution) -- Hausnerová, Jitka (203 Czech Republic, belonging to the institution) -- Minář, Luboš (203 Czech Republic, belonging to the institution) -- Taslerová, Renata (203 Czech Republic, belonging to the institution) -- Vinklerová, Petra (203 Czech Republic, belonging to the institution) -- Ehrlichová, Lucie (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Blaháková, Ivona (203 Czech Republic, belonging to the institution) -- Princ, Denis (703 Slovakia) -- Matulová, Květoslava (203 Czech Republic, belonging to the institution) -- Ovesná, Petra (203 Czech Republic, belonging to the institution) -- Slabý, Ondřej (203 Czech Republic, belonging to the institution) -- Weinberger, Vít (203 Czech Republic, belonging to the institution)
      Keywords in English: p53; endometrial cancer; molecular testing; POLE; mismatch-repair system
      Reviewed: yes

      Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 19/2/2024 14:36.
    9. VRZALOVÁ, Zuzana, Lenka RADOVÁ, Kateřina STAŇO KOZUBÍK, Jiří ŠTIKA, Ivona BLAHÁKOVÁ, Jakub TRIZULJAK, Šárka POSPÍŠILOVÁ, H. HALÁMOVÁ and Michael DOUBEK. Phenotype-genotype corellation in two families with hereditary spherocytosis. In European Human Genetics Conference (ESHG), Glasgow, United Kingdom. 2023.
      URL
      RIV: Conference abstract. English. United Kingdom of Great Britain and Northern Ireland.
      Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Štika, Jiří (203 Czech Republic, belonging to the institution) -- Blaháková, Ivona (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, guarantor, belonging to the institution)
      Keywords in English: hemolytic anemia; hereditary spherocytosis; Sanger sequencing
      Type of participation: active participation (giving a lecture, organization, etc.)
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Eva Dubská, učo 77638. Changed: 25/3/2024 11:35.
    10. TRIZULJAK, Jakub, Jakub DUBEN, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Kateřina STAŇO KOZUBÍK, Jiří ŠTIKA, Lenka RADOVÁ, Veronika BERGEROVÁ, Soňa MEJSTŘÍKOVÁ, Věra HOŘÍNOVÁ, Radim JANČÁLEK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Rozsáhlá delece 22q12 u pacienta s oboustranným Schwannomem, mentální retardací, percepční sluchovou poruchou a epilepsií. In Kaprasův den 2023, Praha. 2023.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 11/9/2023 14:20.

    2022

    1. SKALNÍKOVÁ, Magdalena, Kateřina STAŇO KOZUBÍK, Jakub TRIZULJAK, Zuzana VRZALOVÁ, Lenka RADOVÁ, Kamila RÉBLOVÁ, Radka HOLBOVÁ, Terézia KURUCOVÁ, Hana SVOZILOVÁ, Jiří ŠTIKA, Ivona BLAHÁKOVÁ, Barbara DVOŘÁČKOVÁ, Marie PRUDKOVÁ, Olga STEHLÍKOVÁ, Michal ŠMÍDA, Leoš KŘEN, Petr SMEJKAL, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome. International Journal of Molecular Sciences. Basel: Multidisciplinary Digital Publishing Institute, vol. 23, No 2, p. 1-13. ISSN 1422-0067. doi:10.3390/ijms23020885. 2022.
      URL
      RIV/00216224:14740/22:00126142 Article in a journal. English. Switzerland.
      Skalníková, Magdalena (203 Czech Republic, guarantor, belonging to the institution) -- Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Réblová, Kamila (203 Czech Republic, belonging to the institution) -- Holbová, Radka (203 Czech Republic, belonging to the institution) -- Kurucová, Terézia (703 Slovakia, belonging to the institution) -- Svozilová, Hana (203 Czech Republic, belonging to the institution) -- Štika, Jiří (203 Czech Republic, belonging to the institution) -- Blaháková, Ivona (203 Czech Republic, belonging to the institution) -- Dvořáčková, Barbara (203 Czech Republic, belonging to the institution) -- Prudková, Marie (203 Czech Republic, belonging to the institution) -- Stehlíková, Olga (203 Czech Republic, belonging to the institution) -- Šmída, Michal (203 Czech Republic, belonging to the institution) -- Křen, Leoš (203 Czech Republic, belonging to the institution) -- Smejkal, Petr (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution)
      Keywords in English: Bernard-Soulier syndrome; monoallelic; autosomal dominant; GP1BA; macrothrombocytopenia
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 3/4/2023 09:55.
    2. STAŇO KOZUBÍK, Kateřina, Jakub TRIZULJAK, Zuzana VRZALOVÁ, Lenka RADOVÁ, Ivona BLAHÁKOVÁ, Jiří ŠTIKA, Petr SMEJKAL, Veronika BERGEROVÁ, Jakub HYNŠT, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Analysis of ANKRD26 gene 5´UTR variant in a cohort of Czech patients with suspected hereditary hematological disorder. In EHA 2022 in HemaSphere 2022; 6(S3): 2893-2894. 2022.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 9/1/2023 15:20.
    3. STAŇO KOZUBÍK, Kateřina, Jakub TRIZULJAK, Zuzana VRZALOVÁ, Lenka RADOVÁ, Ivona BLAHÁKOVÁ, Jiří ŠTIKA, Petr SMEJKAL, Veronika BERGEROVÁ, Jakub HYNŠT, Šárka POSPÍŠILOVÁ and Michael DOUBEK. ANALYSIS OF ANKRD26 GENE 5'UTR VARIANTS IN A COHORT OF CZECH PATIENTS WITH SUSPECTED HEREDITARY HEMATOLOGICAL DISORDER. In EHA 2022. ISSN 2572-9241. 2022.
      URL

      Keywords in English: Mutation analysis; Polymorphism; Thrombocytopenia
      International impact: yes

      Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 3/2/2023 09:16.
    4. BLAHÁKOVÁ, Ivona, Jakub TRIZULJAK, Zuzana VRZALOVÁ, Soňa MEJSTŘÍKOVÁ, Jakub DUBEN, Jiří ŠTIKA, Kateřina STAŇO KOZUBÍK, Michael DOUBEK and Šárka POSPÍŠILOVÁ. Delece 22q12 u pacienta s bilaterálním schwannomem zachycená kombinací metod NGS, MLPA a array-CGH. In Celostátní sjezd Společnosti lékařské genetiky a genomiky ČLS JEP a 55. výroční cytogenetická konference, Praha. 2022.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 24/11/2022 10:06.
    5. VRZALOVÁ, Zuzana, Jiří ŠTIKA, Kateřina STAŇO KOZUBÍK, Ivona BLAHÁKOVÁ, Jakub TRIZULJAK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Genetická diagnostika familiárních onemocnění krvetvorby a stanovení jejich funkčního dopadu. In Celostátní sjezd Společnosti lékařské genetiky a genomiky ČLS JEP a 55. výroční cytogenetická konference, Praha. 2022.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 24/11/2022 09:51.
    6. VRZALOVÁ, Zuzana, Věra HŮRKOVÁ, Kateřina STAŇO KOZUBÍK, Karol PÁL, Marie TRKOVÁ, Jiří ŠTIKA, Ivona BLAHÁKOVÁ, Lenka RADOVÁ, Jakub TRIZULJAK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Loss of heterozygosity in EIF3F gene leading to intellectual disability in two siblings. In ESHG - European Human Genetics Conference 2022, Rakousko, Vídeň. 2022.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 20/12/2022 11:03.
    7. VRZALOVÁ, Zuzana, Věra HŮRKOVÁ, Kateřina STAŇO KOZUBÍK, Karol PÁL, Marie TRKOVÁ, Jiří ŠTIKA, Ivona BLAHÁKOVÁ, Lenka RADOVÁ, Jakub TRIZULJAK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Loss of heterozygosity inEIF3F gene leading to intellectual disability in two siblings. In Mendel Genetics Conference 2022. 2022.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 18/8/2022 12:32.
    8. PAVLOVÁ, Šárka, Jitka MALČÍKOVÁ, Johana GOMBÍKOVÁ, Jana ŠMARDOVÁ, Karla PLEVOVÁ, Jana KOTAŠKOVÁ, Barbara DVOŘÁČKOVÁ, Barbara KUNT VONKOVÁ, Kristýna ZÁVACKÁ, Veronika NAVRKALOVÁ, Jakub TRIZULJAK, Michael DOUBEK and Šárka POSPÍŠILOVÁ. Pathogenic germline variants of TP53 gene are rare in patients with chronic lymphocytic leukemia. In ESHG - European Human Genetics Conference 2022, Rakousko, Vídeň. 2022.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 19/12/2022 11:37.
    9. BEDNAŘÍKOVÁ, Markéta, Jitka HAUSNEROVÁ, Luboš MINÁŘ, Jakub TRIZULJAK, Ivona BLAHÁKOVÁ, Lucie EHRLICHOVÁ, Petra VINKLEROVÁ, Michal FELSINGER, Květoslava MATULOVÁ, Petra OVESNÁ and Vít WEINBERGER. 2022-RA-1304-ESGO Molecular testing of endometrial carcinoma brings growing opportunity to identify patients with inherited risk of cancer. In ESGO 2022 Congress. ISSN 1525-1438. doi:10.1136/ijgc-2022-ESGO.303. 2022.
      URL
      Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 4/11/2022 08:33.

    2021

    1. BLAHÁKOVÁ, Ivona, Jakub TRIZULJAK, Soňa MEJSTŘÍKOVÁ, Zuzana VRZALOVÁ, Michael DOUBEK and Šárka POSPÍŠILOVÁ. Detekce kauzálních variant u hereditárních nádorových sysndromů kombinací metod NGS a DigiMLPA. In XLV. Brněnské onkologické dny v Klinická Onkologie (2021). 2021.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 20/12/2021 07:35.
    2. BRYCHTOVÁ, Yvona, Alžběta VAŠÍKOVÁ, Ivana JEŽÍŠKOVÁ, Kateřina ČÁBELOVÁ, Petra ŠMUHAŘOVÁ, Alexandra OLTOVÁ, Marie JAROŠOVÁ, Stanislava MAŠLEJOVÁ, Lucie BEZDĚKOVÁ, Jakub TRIZULJAK, Jiří MAYER and Michael DOUBEK. Diferenciální diagnostika eozinofilií v letech 2015-2020 na IHOK FN Brno. In II. Český hematologický a transfuziologický sjezd v Transfuze a Hematologie Dnes (2021). 2021.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 20/12/2021 09:38.
    3. SKALNÍKOVÁ, Magdalena, Kateřina STAŇO KOZUBÍK, Zuzana VRZALOVÁ, Kamila RÉBLOVÁ, Jakub TRIZULJAK, Jiří ŠTIKA, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Functional analysis of new variant GP1BA gene in inherited macrotrombocytopenia. In Pražské hematologické dny. 2021.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 20/12/2021 14:28.
    4. STAŇO KOZUBÍK, Kateřina, Zuzana VRZALOVÁ, Jakub TRIZULJAK, Magdalena SKALNÍKOVÁ, Lenka RADOVÁ, Ivona BLAHÁKOVÁ, Jiří ŠTIKA, Veronika BERGEROVÁ, Michal ŠMÍDA, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Kongenitální neutropenie u dětí a dospělých (Congenital neutropenia in children and adults). Transfúze a hematologie dnes. Mladá fronta a.s., vol. 27, No 4, p. 297-303. ISSN 1213-5763. doi:10.48095/cctahd2021297. 2021.
      URL
      Name in Czech: Kongenitální neutropenie u dětí a dospělých
      Name (in English): Congenital neutropenia in children and adults
      RIV/00216224:14740/21:00120210 Article in a journal. Czech. Czech Republic.
      Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Skalníková, Magdalena (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Blaháková, Ivona (203 Czech Republic, belonging to the institution) -- Štika, Jiří (203 Czech Republic, belonging to the institution) -- Bergerová, Veronika (703 Slovakia, belonging to the institution) -- Šmída, Michal (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution)
      Keywords in English: whole exome sequencing; hereditary neutropenia in adults; gene variants

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 18/5/2022 13:32.
    5. VRZALOVÁ, Zuzana, Kateřina STAŇO KOZUBÍK, Jiří ŠTIKA, Magdalena SKALNÍKOVÁ, Lenka RADOVÁ, Ivona BLAHÁKOVÁ, Jakub TRIZULJAK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Molekulárně genetická diagnostika familiárních onemocnění krvetvorby. In II. Český hematologický a transfuziologický sjezd v Transfuze a Hematologie Dnes (2021). 2021.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 20/12/2021 09:43.

    2020

    1. TRIZULJAK, Jakub, W. R. SPERR, Lucie NEKVINDOVA, H. O. ELBERINK, K. V. GLEIXNER, A. GORSKA, M. LANGE, K. HARTMANN, A. ILLERHAUS, M. BONIFACIO, C. PERKINS, C. ELENA, L. MALCOVATI, A. B. FORTINA, K. SHOUMARIYEH, M. JAWHAR, R. ZANOTTI, P. BONADONNA, F. CAROPPO, A. ZINK, M. TRIGGIANI, R. PARENTE, Bubnoff N. VON, A. S. YAVUZ, H. HAGGLUND, M. MATTSSON, J. PANSE, N. JAEKEL, A. KILBERTUS, O. HERMINE, M. AROCK, D. FUCHS, V. SABATO, K. BROCKOW, A. BRETTERKLIEBER, M. NIEDOSZYTKO, Anrooij B. VAN, A. REITER, J. GOTLIB, H. C. KLUIN-NELEMANS, Jiří MAYER, Michael DOUBEK and P. VALENT. Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification. Allergy. Hoboken: Wiley, vol. 75, No 8, p. 1927-1938. ISSN 0105-4538. doi:10.1111/all.14248. 2020.
      URL
      RIV/00216224:14110/20:00114918 Article in a journal. English. United States of America.
      Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Nekvindova, Lucie (203 Czech Republic) -- Mayer, Jiří (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, guarantor, belonging to the institution)
      Keywords in English: cutaneous mastocytosis; indolent systemic mastocytosis; prognostication; survival; WHO classification
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 24/2/2021 13:14.
    2. SÝKORA, M., Zuzana VRZALOVÁ, J. VONDRÁKOVÁ, Ivona BLAHÁKOVÁ, Jakub TRIZULJAK, V. MOTÁŇ, P. JANDOVÁ, N. ROUČKOVÁ, M. STRUSKOVÁ, Šárka POSPÍŠILOVÁ, I. VONKE and Michael DOUBEK. Dědičná trombocytopenie na podkladě patogenní varianty genu MYH9 diagnostikovaná u dospělé ženy. (Hereditary thrombocytopenia caused by a pathogenic variant of the MYH9 gene diagnosed in an adult woman.). Transfúze a hematologie dnes. Mladá fronta a.s., vol. 26, No 4, p. 327-332. ISSN 1213-5763. 2020.
      URL
      Name in Czech: Dědičná trombocytopenie na podkladě patogenní varianty genu MYH9 diagnostikovaná u dospělé ženy.
      Name (in English): Hereditary thrombocytopenia caused by a pathogenic variant of the MYH9 gene diagnosed in an adult woman.
      RIV/00216224:14740/20:00120085 Article in a journal. Czech. Czech Republic.
      Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Blaháková, Ivona (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, guarantor, belonging to the institution)
      Keywords in English: hereditary thrombocytopenia; MYH 9; Sebastian syndrome

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 12/5/2021 12:48.
    3. TRIZULJAK, Jakub, Terezie PETRUCHOVÁ, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Vera HORINOVA, Martina DOUBKOVÁ, Jozef MICHALKA, Jiří MAYER, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin. Molecular Syndromology. BASEL: Karger, vol. 11, No 2, p. 73-82. ISSN 1661-8769. doi:10.1159/000507006. 2020.
      URL
      RIV/00216224:14110/20:00116143 Article in a journal. English. Switzerland.
      Trizuljak, Jakub (703 Slovakia, guarantor, belonging to the institution) -- Petruchová, Terezie (203 Czech Republic, belonging to the institution) -- Blaháková, Ivona (203 Czech Republic, belonging to the institution) -- Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Horinova, Vera (203 Czech Republic) -- Doubková, Martina (203 Czech Republic) -- Michalka, Jozef (703 Slovakia, belonging to the institution) -- Mayer, Jiří (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution)
      Keywords in English: Autosomal recessive variant; BLM; Bloom syndrome; Consanguinity; Lymphoma
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 31/8/2020 10:47.
    4. TRIZULJAK, Jakub, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Markéta BEDNAŘÍKOVÁ, I. GROCHOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Double-hit mutace u pacientky s karcinomem ovaria a neurofibromatózou. In XLIV. Brněnské onkologické dny, Brno, říjen 2020 in Klinická Onkologie. 2020.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 22/1/2021 07:49.
    5. SKALNÍKOVÁ, Magdalena, Kateřina STAŇO KOZUBÍK, Michaela PEŠOVÁ, Zuzana VRZALOVÁ, Jakub TRIZULJAK, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Functional testing of gene variants in inherited thrombocytopenias. In 20. Pražské hematologické dny (Hematologie 2020), Praha. 2020.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 6/11/2020 13:36.
    6. VRZALOVÁ, Zuzana, Kateřina STAŇO KOZUBÍK, Lenka RADOVÁ, Jakub TRIZULJAK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Characterization of pathogenic variants associated with hereditary thrombocytopenias in families from the Czech republic. In 20. Pražské hematologické dny (Hematologie 2020), Praha. 2020.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 6/11/2020 13:14.
    7. TRIZULJAK, Jakub, Zuzana VRZALOVÁ, Ivona BLAHÁKOVÁ, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Uncovering rare hematological entities: Shwachman-Diamond syndrome in a pair of siblings with neutropenia and recurrent infections. In ESHG Virtual Conference 2020. 2020.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 22/1/2021 07:35.

    2019

    1. STAŇO KOZUBÍK, Kateřina, Jakub TRIZULJAK, Michaela PEŠOVÁ, Karol PÁL, Kamila RÉBLOVÁ, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia. In 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG). ISSN 1018-4813. 2019.
      RIV/00216224:14740/19:00108613 Conference abstract. English. United Kingdom of Great Britain and Northern Ireland.
      Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Pešová, Michaela (203 Czech Republic, belonging to the institution) -- Pál, Karol (703 Slovakia, belonging to the institution) -- Réblová, Kamila (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, guarantor, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution)
      Keywords in English: germline mutation; GP1BA
      International impact: yes

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 31/3/2020 15:00.
    2. DOUBKOVÁ, Martina, Kateřina STAŇO KOZUBÍK, Lenka RADOVÁ, Michaela PEŠOVÁ, Jakub TRIZULJAK, Karol PÁL, Klára SVOBODOVÁ, Kamila RÉBLOVÁ, Hana SVOZILOVÁ, Zuzana VRZALOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia. HUMAN GENOME VARIATION. LONDON: NATURE PUBLISHING GROUP, vol. 6, MAR, p. nestrankovano, 6 pp. ISSN 2054-345X. doi:10.1038/s41439-019-0044-z. 2019.
      URL
      RIV/00216224:14740/19:00108481 Article in a journal. English. United Kingdom of Great Britain and Northern Ireland.
      Doubková, Martina (203 Czech Republic, belonging to the institution) -- Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Pešová, Michaela (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Pál, Karol (703 Slovakia, belonging to the institution) -- Svobodová, Klára (203 Czech Republic) -- Réblová, Kamila (203 Czech Republic, belonging to the institution) -- Svozilová, Hana (203 Czech Republic, belonging to the institution) -- Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, guarantor, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution)
      Keywords in English: IDIOPATHIC PULMONARY-FIBROSIS; SURFACTANT PROTEIN-A; LUNG-DISEASE; PATHOLOGICAL FEATURES; RTEL1; DIAGNOSIS; VARIANTS; UPDATE; ABCA3
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 31/3/2020 21:09.
    3. DOUBKOVÁ, Martina, Jakub TRIZULJAK, Anna HRAZDIROVÁ, Zuzana VRZALOVÁ, Ivona BLAHÁKOVÁ, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A rare diagnosis: Hermansky-Pudlak syndrome i a patient eith pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy. In European Respiratory Journal 2019, 54, Suppl. 63, PA1400. doi:10.1183/13993003.congress-219.PA1400. 2019.
      Changed by: Kateřina Medková, učo 169105. Changed: 10/12/2019 11:56.
    4. TRIZULJAK, Jakub, Martina DOUBKOVÁ, Anna HRAZDIROVÁ, Zuzana VRZALOVÁ, Ivona BLAHÁKOVÁ, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy. In ESHG 2019, Gothenburg, Sweden. ISSN 1018-4813. 2019.
      RIV/00216224:14110/19:00108576 Conference abstract. English. United Kingdom of Great Britain and Northern Ireland.
      Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Doubková, Martina (203 Czech Republic, belonging to the institution) -- Hrazdirová, Anna (203 Czech Republic, belonging to the institution) -- Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Blaháková, Ivona (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution)
      Keywords in English: Hermansky-Pudlak syndrome

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 30/3/2020 14:30.
    5. TRIZULJAK, Jakub and Michael DOUBEK. Cílená terapie chronické lymfocytární leukemie (Targeted therapy of chronic lymphocytic leukemia). Acta medicinae. ERA Média s.r.o., vol. 8, No 11, p. 129-131. ISSN 1805-398X. 2019.
      URL
      Name (in English): Targeted therapy of chronic lymphocytic leukemia
      RIV/00216224:14110/19:00115267 Article in a journal. Czech. Czech Republic.
      Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution)
      Keywords in English: CLL; therapy; studies
      Reviewed: yes

      Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 26/2/2021 08:51.
    6. TRIZULJAK, Jakub and Michael DOUBEK. Familial leukemia associated with thrombocytopenia. In Zhan He Wu. Germ Line Mutations Associated Leukemia. London: Intech Open. p. 1-16. ISBN 978-1-78984-024-7. doi:10.5772/intechopen.85303. 2019.
      URL
      RIV/00216224:14110/19:00108587 Chapter(s) of a specialized book. English. United Kingdom of Great Britain and Northern Ireland.
      Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Doubek, Michael (203 Czech Republic, guarantor, belonging to the institution)
      Keywords in English: Familial leukemia; thrombocytopenia; AML; familial; RUNX1; ANKRD26; ETV6
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 22/4/2020 08:54.
    7. VRZALOVÁ, Zuzana, Ivona BLAHÁKOVÁ, Lenka RADOVÁ, Jakub TRIZULJAK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Characterization of causal variants associated with hereditary thrombocytopenias. In ASHG 2019 Annual Meeting, Houston, Texas, USA. 2019.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 24/1/2020 07:52.
    8. VRZALOVÁ, Zuzana, Lenka RADOVÁ, Kateřina STAŇO KOZUBÍK, Jakub TRIZULJAK, Ivona BLAHÁKOVÁ, Jiří ŠTIKA, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Charakterizace patogenních variant u rodin s výskytem dědičné trombocytopenie – kazuistiky. In 23. celostátní konference DNA diagnostiky, Brno. 2019.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 24/1/2020 13:02.
    9. VRZALOVÁ, Zuzana, Lenka RADOVÁ, Kateřina STAŇO KOZUBÍK, Jakub TRIZULJAK, Ivona BLAHÁKOVÁ, Jiří ŠTIKA, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Charakterizace patogenních variant u rodin s výskytem dědičné trombocytopenie – kazuistiky. In Celostátní sjezd Společnosti lékařské genetika a genomiky ČLS JEP a 52. Výroční cytogenetická konference, Plzeň. 2019.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 29/1/2020 07:41.
    10. DOUBKOVÁ, Martina, Jakub TRIZULJAK, Zuzana VRZALOVÁ, Anna HRAZDIROVÁ, Ivona BLAHÁKOVÁ, Lenka RADOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. BMC Pulmonary Medicine. London: Biomed Central LTD, vol. 19, No 1, p. 178-183. ISSN 1471-2466. doi:10.1186/s12890-019-0941-4. 2019.
      URL
      RIV/00216224:14740/19:00108528 Article in a journal. English. United Kingdom of Great Britain and Northern Ireland.
      Doubková, Martina (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Hrazdirová, Anna (203 Czech Republic, belonging to the institution) -- Blaháková, Ivona (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, guarantor, belonging to the institution)
      Keywords in English: Exome sequencing; Hermansky-Pudlak syndrome; Pulmonary fibrosis
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 9/3/2020 08:57.
    11. BLAHÁKOVÁ, Ivona, Jakub TRIZULJAK, Zuzana VRZALOVÁ and Šárka POSPÍŠILOVÁ. Vyšetření dědičných predispozic k nádorovým onemocněním metodou NGS – dosavadní výsledky a nejasné případy. In Celostátní sjezd Společnosti lékařské genetika a genomiky ČLS JEP a 52. Výroční cytogenetická konference, Plzeň. 2019.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 29/1/2020 07:54.
    12. BLAHÁKOVÁ, Ivona, Jakub TRIZULJAK, Zuzana VRZALOVÁ and Šárka POSPÍŠILOVÁ. Vyšetření dědičných predispozic k nádorovým onemocněním metodou NGS – dosavadní výsledky a nejasné případy. In XLIII. Brněnské onkologické dny v Klinická Onkologie, Brno. 2019.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 1/11/2019 13:55.

    2018

    1. TRIZULJAK, Jakub, Kateřina STAŇO KOZUBÍK, Lenka RADOVÁ, Michaela PEŠOVÁ, Karol PÁL, Kamila RÉBLOVÁ, Olga STEHLÍKOVÁ, Petr SMEJKAL, Jiřina ZAVŘELOVÁ, M. PACEJKA, Jiří MAYER, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. Platelets. PHILADELPHIA: TAYLOR & FRANCIS INC, vol. 29, No 8, p. 827-833. ISSN 0953-7104. doi:10.1080/09537104.2018.1529300. 2018.
      URL
      RIV/00216224:14740/18:00106258 Article in a journal. English. United States of America.
      Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Pešová, Michaela (203 Czech Republic, belonging to the institution) -- Pál, Karol (703 Slovakia, belonging to the institution) -- Réblová, Kamila (203 Czech Republic, belonging to the institution) -- Stehlíková, Olga (203 Czech Republic, belonging to the institution) -- Smejkal, Petr (203 Czech Republic, belonging to the institution) -- Zavřelová, Jiřina (203 Czech Republic, belonging to the institution) -- Pacejka, M. (203 Czech Republic) -- Mayer, Jiří (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, guarantor, belonging to the institution)
      Keywords in English: Autosomal dominant variant; GP1BA; Inherited thrombocytopenia; monoallelic Bernard-Soulier syndrome
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 15/3/2019 13:54.
    2. STAŇO KOZUBÍK, Kateřina, Lenka RADOVÁ, Michaela PEŠOVÁ, Kamila RÉBLOVÁ, Jakub TRIZULJAK, Karla PLEVOVÁ, Veronika FIAMOLI, J. GUMULEC, H. URBANKOVA, T. SZOTKOWSKI, Jiří MAYER, Šárka POSPÍŠILOVÁ and Michael DOUBEK. C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies. International journal of hematology. Tokyo: Springer Japan KK, vol. 108, No 6, p. 652-657. ISSN 0925-5710. doi:10.1007/s12185-018-2514-3. 2018.
      URL
      RIV/00216224:14740/18:00106950 Article in a journal. English. Japan.
      Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Pešová, Michaela (203 Czech Republic, belonging to the institution) -- Réblová, Kamila (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Plevová, Karla (203 Czech Republic, belonging to the institution) -- Fiamoli, Veronika (203 Czech Republic, belonging to the institution) -- Gumulec, J. (203 Czech Republic) -- Urbankova, H. (203 Czech Republic) -- Szotkowski, T. (203 Czech Republic) -- Mayer, Jiří (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, guarantor, belonging to the institution)
      Keywords in English: Familial platelet disorder with predisposition to myeloid malignancies; Inherited thrombocytopenia; RUNX1
      International impact: yes
      Reviewed: yes

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 13/3/2019 13:09.
    3. SVOZILOVÁ, Hana, Zuzana VRZALOVÁ, Kateřina STAŇO KOZUBÍK, Michaela PEŠOVÁ, Martina DOUBKOVÁ, Jakub TRIZULJAK, Věra HŮRKOVÁ, Lenka RADOVÁ, Kamila RÉBLOVÁ, Karol PÁL, Michael DOUBEK and Šárka POSPÍŠILOVÁ. Detekce patogenních variant u rodin s výskytem dědičného onemocnění metodou celoexomového sekvenování – kazuistiky (Detection of Pathogenic Variants in Families with Inherited Disease by the Method of Whole-Exam Sequence - Case Reports). In 22. celostátní konference DNA diagnostiky, České Budějovice. 2018.
      Name (in English): Detection of Pathogenic Variants in Families with Inherited Disease by the Method of Whole-Exam Sequence - Case Reports
      RIV/00216224:14740/18:00105031 Conference abstract. Czech.
      Svozilová, Hana (203 Czech Republic, belonging to the institution) -- Vrzalová, Zuzana (203 Czech Republic, belonging to the institution) -- Staňo Kozubík, Kateřina (203 Czech Republic, belonging to the institution) -- Pešová, Michaela (203 Czech Republic, belonging to the institution) -- Doubková, Martina (203 Czech Republic, belonging to the institution) -- Trizuljak, Jakub (703 Slovakia, belonging to the institution) -- Hůrková, Věra (203 Czech Republic, belonging to the institution) -- Radová, Lenka (203 Czech Republic, belonging to the institution) -- Réblová, Kamila (203 Czech Republic, belonging to the institution) -- Pál, Karol (703 Slovakia, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution) -- Pospíšilová, Šárka (203 Czech Republic, guarantor, belonging to the institution)
      Keywords in English: detection; WES

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 26/3/2019 15:45.
    4. PEŠOVÁ, Michaela, Kateřina STAŇO KOZUBÍK, Lenka RADOVÁ, Karol PÁL, Kamila RÉBLOVÁ, Jakub TRIZULJAK, H. URBÁNKOVÁ, Petr SMEJKAL, Jaromír GUMULEC, Veronika FIAMOLI, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Determination of causal variants in iherited thrombocytopenias (Determination of causal variants in iherited thrombocytopenias.). In 16th VBC PhD Symposium – Metamorhphosis, Vienna, Austria. 2018.
      Name (in English): Determination of causal variants in iherited thrombocytopenias.
      English.
      Keywords in English: inherited thrombocytopenias; determination

      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 26/3/2019 15:46.
    5. PEŠOVÁ, Michaela, Kateřina STAŇO KOZUBÍK, Jakub TRIZULJAK, Lenka RADOVÁ, Kamila RÉBLOVÁ, Jiří MAYER, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Stanovení kauzálních variant u dědičných trombocytopenií. In I. Český hematologický a transfuziologický sjezd. 2018.
      Czech.
      Changed by: Mgr. Pavla Foltynová, Ph.D., učo 106624. Changed: 26/3/2019 15:37.
    6. DOUBEK, Michael, Jakub TRIZULJAK, Jiří MAYER, Kateřina STAŇO KOZUBÍK, Michaela PEŠOVÁ, Lenka RADOVÁ and Šárka POSPÍŠILOVÁ. Vrozené predispozice k hematologickým malignitám existují: přehled poznatků a vlastní nálezy. In XIII. Brněnské hematologické dny/Novinky v hematologii, Brno. 2018.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 13/2/2019 10:43.

    2017

    1. TRIZULJAK, Jakub and Michael DOUBEK. Úspěšná léčba ibrutinibem u pacientky s chronickou lymfocytární leukemií a nutností antiagregační terapie (Successful ibrutinib treatment in patient with chronic lymphocytic leukemia and the need for anti-aggregation therapy). Acta medicinae. Brno: ERA Média, vol. 6, No 3, p. 91-92. ISSN 1805-398X. 2017.
      Name (in English): Successful ibrutinib treatment in patient with chronic lymphocytic leukemia and the need for anti-aggregation therapy
      RIV/00216224:14110/17:00099071 Article in a journal. Oncology and haematology. Czech. Czech Republic.
      Trizuljak, Jakub (703 Slovakia, guarantor, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution)
      Keywords in English: ibrutinib; chronic lymphocytic leukemia

      Changed by: Soňa Böhmová, učo 232884. Changed: 19/3/2018 14:06.

    2016

    1. TRIZULJAK, Jakub, Yvona BRYCHTOVÁ and Michael DOUBEK. Léčba pacienta s opakovaně progradující chronickou lymfocytární leukemií idelasibem a komplikace této léčby (Treatment of a patient with repeatedly progressing chronic lymphocytic leukemia with idelalisib and complications of this treatment). In Případy z klinické praxe : zkušenosti s léčbou idelalisibem (Zydelig®) u pacientů s CLL. První vydání. Praha: Farmakon Press, spol. s r.o. p. 23-24. ISBN 978-80-906589-0-5. 2016.
      Name (in English): Treatment of a patient with repeatedly progressing chronic lymphocytic leukemia with idelalisib and complications of this treatment
      RIV/00216224:14110/16:00093538 Popularizing texts and activities. Oncology and haematology. Czech. Czech Republic.
      Trizuljak, Jakub (703 Slovakia, guarantor, belonging to the institution) -- Brychtová, Yvona (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution)
      Keywords in English: chronic lymphocytic leukemia; relapsed / refractery; idelalisib; complications; respiratory infections

      Changed by: Ing. Mgr. Věra Pospíšilíková, učo 9005. Changed: 20/2/2017 16:51.

    2015

    1. TRIZULJAK, Jakub, Josef SROVNAL, Karla PLEVOVÁ, Yvona BRYCHTOVÁ, Lukáš SEMERÁD, Denisa BAKEŠOVÁ, Eva LÉTALOVÁ, Andrea BENEDÍKOVÁ, Jiří MAYER, Marian HAJDÚCH, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Analysis of Prognostic Significance of Merkel Cell Polyomavirus in Chronic Lymphocytic Leukemia. Clinical Lymphoma Myeloma & Leukemia. Dallas: Cig Media Group, vol. 15, No 7, p. 439-442. ISSN 2152-2650. doi:10.1016/j.clml.2015.02.003. 2015.
      URL
      RIV/00216224:14110/15:00083517 Article in a journal. Oncology and haematology. English. United States of America.
      Trizuljak, Jakub (703 Slovakia, guarantor, belonging to the institution) -- Srovnal, Josef (203 Czech Republic) -- Plevová, Karla (203 Czech Republic, belonging to the institution) -- Brychtová, Yvona (203 Czech Republic, belonging to the institution) -- Semerád, Lukáš (203 Czech Republic, belonging to the institution) -- Bakešová, Denisa (703 Slovakia, belonging to the institution) -- Létalová, Eva (203 Czech Republic, belonging to the institution) -- Benedíková, Andrea (203 Czech Republic) -- Mayer, Jiří (203 Czech Republic, belonging to the institution) -- Hajdúch, Marian (203 Czech Republic) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Doubek, Michael (203 Czech Republic, belonging to the institution)
      Keywords in English: Chronic lymphocytic leukemia; Merkel cell polyomavirus; Overall survival; Polymerase chain reaction; Prognostic factors
      International impact: yes
      Reviewed: yes

      Changed by: Ing. Mgr. Věra Pospíšilíková, učo 9005. Changed: 28/4/2016 13:51.
    2. DOUBEK, Michael, Yvona BRYCHTOVÁ, Anna PANOVSKÁ, Ludmila ŠEBEJOVÁ, Olga STEHLÍKOVÁ, Jana CHOVANCOVÁ, Jitka MALČÍKOVÁ, Jana ŠMARDOVÁ, Karla PLEVOVÁ, Pavlína VOLFOVÁ, Martin TRBUŠEK, Marek MRÁZ, Denisa BAKEŠOVÁ, Jakub TRIZULJAK, Markéta HADRABOVÁ, Petra OBRTLÍKOVÁ, Josef KARBAN, Lukáš SMOLEJ, Alexandra OLTOVÁ, Eva JELÍNKOVÁ, Šárka POSPÍŠILOVÁ and Jiří MAYER. Ofatumumab added to dexamethasone in patients with relapsed or refractory chronic lymphocytic leukemia: Results from a phase II study. American Journal of Hematology. Hoboken: Wiley-Blackwell, vol. 90, No 5, p. 417-421. ISSN 0361-8609. doi:10.1002/ajh.23964. 2015.
      URL
      RIV/00216224:14740/15:00082873 Article in a journal. Oncology and haematology. English. United States of America.
      Doubek, Michael (203 Czech Republic, guarantor, belonging to the institution) -- Brychtová, Yvona (203 Czech Republic) -- Panovská, Anna (203 Czech Republic) -- Šebejová, Ludmila (203 Czech Republic) -- Stehlíková, Olga (203 Czech Republic) -- Chovancová, Jana (203 Czech Republic) -- Malčíková, Jitka (203 Czech Republic, belonging to the institution) -- Šmardová, Jana (203 Czech Republic) -- Plevová, Karla (203 Czech Republic, belonging to the institution) -- Volfová, Pavlína (203 Czech Republic) -- Trbušek, Martin (203 Czech Republic, belonging to the institution) -- Mráz, Marek (203 Czech Republic, belonging to the institution) -- Bakešová, Denisa (703 Slovakia) -- Trizuljak, Jakub (703 Slovakia) -- Hadrabová, Markéta (203 Czech Republic) -- Obrtlíková, Petra (203 Czech Republic) -- Karban, Josef (203 Czech Republic) -- Smolej, Lukáš (203 Czech Republic) -- Oltová, Alexandra (203 Czech Republic) -- Jelínková, Eva (203 Czech Republic) -- Pospíšilová, Šárka (203 Czech Republic, belonging to the institution) -- Mayer, Jiří (203 Czech Republic, belonging to the institution)
      Keywords in English: HIGH-DOSE METHYLPREDNISOLONE; RITUXIMAB; COMBINATION; FLUDARABINE; IBRUTINIB; EFFICACY; THERAPY; CD20
      International impact: yes
      Reviewed: yes

      Changed by: Martina Prášilová, učo 342282. Changed: 23/12/2015 08:58.

    2014

    1. DOUBEK, Michael, J. SROVNAL, Karla PLEVOVÁ, Jakub TRIZULJAK, Yvona BRYCHTOVÁ, Lukáš SEMERÁD, Eva LÉTALOVÁ, A BENEDIKOVÁ, Jiří MAYER, Marian HAJDÚCH and Šárka POSPÍŠILOVÁ. Analysis of merkel cell polyomavirus prognostic significance in chronic lymphocytic leukemia. In Haematologica, the hematology journal. ISSN 0390-6078. 2014.
      Oncology and haematology. English.
      Changed by: Bc. Kateřina Kolesová, učo 112275. Changed: 6/2/2015 10:34.
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