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Page 1
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, Gnan C, Pippucci T, Bozzi V, Faleschini M, Barozzi S, Doubek M, Di Buduo CA, Kozubik KS, Radova L, Loffredo G, Pospisilova S, Alfano C, Seri M, Balduini CL, Pecci A, Savoia A. Melazzini F, et al. Among authors: kozubik ks. Haematologica. 2016 Nov;101(11):1333-1342. doi: 10.3324/haematol.2016.147496. Epub 2016 Jun 30. Haematologica. 2016. PMID: 27365488 Free PMC article.
Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia.
Kozubik KS, Radova L, Reblova K, Smida M, Zaliova Kubricanova M, Baloun J, Pesova M, Vrzalova Z, Folber F, Mejstrikova S, Pospisilova S, Doubek M. Kozubik KS, et al. Platelets. 2021 Aug 18;32(6):838-841. doi: 10.1080/09537104.2020.1802416. Epub 2020 Aug 21. Platelets. 2021. PMID: 32819174 Free article.
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.
Trizuljak J, Duben J, Blaháková I, Vrzalová Z, Kozubík KS, Štika J, Radová L, Bergerová V, Mejstříková S, Hořínová V, Jančálek R, Pospíšilová Š, Doubek M. Trizuljak J, et al. Among authors: kozubik ks. Mol Syndromol. 2023 Oct;14(5):439-448. doi: 10.1159/000528744. Epub 2023 Jun 2. Mol Syndromol. 2023. PMID: 37908896 Free PMC article.
A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study.
Štika J, Pešová M, Kozubík KS, Skalníková M, Dostálová L, Loja T, Radová L, Palušová V, Réblová K, Vrzalová Z, Blaháková I, Trizuljak J, Uldrijan S, Blatný J, Šmída M, Pospíšilová Š, Doubek M. Štika J, et al. Among authors: kozubik ks. Br J Haematol. 2024 Aug 27. doi: 10.1111/bjh.19694. Online ahead of print. Br J Haematol. 2024. PMID: 39191490