Institute of Medical Genetics and Genomics

Articles

• A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study

  ŠTIKA Jiří PEŠOVÁ Michaela STAŇO KOZUBÍK Kateřina SKALNÍKOVÁ Magdalena DOSTÁLOVÁ Lenka LOJA Tomas RADOVÁ Lenka PALUŠOVÁ Veronika RÉBLOVÁ Kamila VRZALOVÁ Zuzana BLAHÁKOVÁ Ivona TRIZULJAK Jakub ULDRIJAN Stjepan BLATNÝ Jan ŠMÍDA Michal POSPÍŠILOVÁ Šárka DOUBEK Michael

  Article in Periodical

  British journal of haematology, year: 2024, DOI

• Cell Tree Rings: the structure of somatic evolution as a human aging timer

  CSORDAS Attila SIPOS Botond KURUCOVÁ Terézia VOLFOVA Andrea ZAMOLA Frantisek TICHÝ Boris HICKS Damien G

  Article in Periodical

  GEROSCIENCE, year: 2024, volume: 2024, edition: Jan, DOI

• De novo accelerated phase of chronic myeloid leukemia should be recognized even in the era of tyrosine kinase inhibitors

  HORŇÁK Tomáš MAYER Jiří ČIČÁTKOVÁ Petra SEMERÁD Lukáš KVETKOVÁ Anežka KLAMOVA Hana FABER Edgar BELOHLAVKOVA Petra KARAS Michal STEJSKAL Lukas CMUNT Eduard CERNA Olga SRBOVA Dana ZIZKOVA Hana VRABLOVA Lucia SKOUMALOVA Ivana VOGLOVA Jaroslava JURKOVA Tereza CHRAPAVA Marika JURČEK Tomáš JEŽÍŠKOVÁ Ivana JAROŠOVÁ Marie MACHOVA POLAKOVA Katerina PAPAJIK Tomas ZAK Pavel JINDRA Pavel ŽÁČKOVÁ Daniela

  Article in Periodical

  American Journal of Hematology, year: 2024, volume: 99, edition: 4, DOI

• Del(1p32) is an early and high-risk event in multiple myeloma patients with extraosseous disease

  ŠTORK Martin ONDROUŠKOVÁ Eva BOHÚNOVÁ Michaela BOICHUK Ivanna FRIČ Dominik ADAM Zdeněk KREJČÍ Marta SANDECKÁ Viera KNECHTOVÁ Zdeňka RADOVÁ Lenka JELÍNKOVÁ Zuzana ADLEROVÁ Taťána KRTIČKA Milan NEKUDA Vladimír BORSKÝ Marek ŠEVČÍKOVÁ Sabina JAROŠOVÁ Marie POUR Luděk

  Article in Periodical

  Blood Cancer Journal, year: 2024, volume: 14, edition: 1, DOI

• Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia

  RASLOVA Katarina DONICOVA Viera GONOVA Katarina KLABNIK Alexander TICHÝ Lukáš BRIDGES Ian BUCKOVA Dagmar ZACHLEDEROVA Marie FREIBERGER Tomáš VOHNOUT Branislav

  Article in Periodical

  Journal of Clinical Lipidology, year: 2024, volume: 18, edition: 4, DOI

• Efficacy of ixazomib, lenalidomide, dexamethasone regimen in daratumumab-exposed relapsed/refractory multiple myeloma patients: A retrospective analysis

  FRIČ Dominik ŠTORK Martin BOICHUK Ivanna SANDECKÁ Viera ADAM Zdeněk KREJČÍ Marta ONDROUŠKOVÁ Eva FIDRICHOVA Anna RADOVÁ Lenka KNECHTOVÁ Zdeňka JAROŠOVÁ Marie POUR Luděk

  Article in Periodical

  European Journal of Haematology, year: 2024, DOI

• ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update

  MALČÍKOVÁ Jitka PAVLOVÁ Šárka BALIAKAS Panagiotis CHATZIKONSTANTINOU Thomas TAUSCH Eugen CATHERWOOD Mark ROSSI Davide SOUSSI Thierry TICHY Boris KATER Arnon P NIEMANN Carsten U DAVI Frederic GAIDANO Gianluca STILGENBAUER Stephan ROSENQUIST Richard STAMATOPOULOS Kostas GHIA Paolo POSPÍŠILOVÁ Šárka

  Article in Periodical

  Leukemia, year: 2024, DOI

• Extensive Parapharyngeal Abscess in a 4-Month-Old Infant

  PETROVÁ Barbora ŠIKOLOVÁ Soňa BARTOŠ Michal JANČÍKOVÁ Jana JABANDŽIEV Petr KLABUSAYOVÁ Eva URÍK Milan

  Article in Periodical

  Ear, Nose & Throat Journal, year: 2024, volume: 103, edition: 6, DOI

• FoxO1/Rictor axis induces a non-genetic adaptation to Ibrutinib via Akt activation in chronic lymphocytic leukemia

  ONDRIŠOVÁ Laura ŠEDA Václav HLAVÁČ Kryštof PAVELKOVÁ Petra HOFERKOVÁ Eva CHIODIN Giorgia KOŠŤÁLOVÁ Lenka MLADONICKÁ PAVLASOVÁ Gabriela FILIP Daniel VEČEŘA Josef FARIA ZENI Pedro OPPELT Jan KAHOUNOVÁ Zuzana VICHOVA Rachel SOUČEK Karel PANOVSKÁ Anna PLEVOVÁ Karla POSPÍŠILOVÁ Šárka ŠIMKOVIČ Martin VRBACKÝ Filip LYSÁK Daniel FERNANDES Stacey M. DAVIDS M.S. MAIQUES-DIAZ Alba CHARALAMPOPOULOU Stella MARTIN-SUBERO Jose I. BROWN Jenifer R. DOUBEK Michael MAYER Jiří MRÁZ Marek

  Article in Periodical

  The Journal of Clinical Investigation, year: 2024, DOI

• Generation of human induced pluripotent stem cell lines from patients with a RYR2 gene variant c.14201A>G (p.Y4734C): Implications for idiopathic ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia

  ÇELIKER Canan ZELENÁK Štefan LIETAVA Samuel PACHERNÍK Jiří BÉBAROVÁ Markéta ZÍDKOVÁ Jana NOVOTNÝ Tomáš BÁRTA Tomáš

  Article in Periodical

  Stem cell research, year: 2024, volume: 81, edition: December 2024, DOI