Contact
Email: | , |
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Phone: | +420 532 233 559, +420 532 233 603 |
Research group: | Medical Genomics - Šárka Pospíšilová |
Workplace: |
Masarykova univerzita - CEITEC Masarykova Univerzita
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Publications that are part of the Web of Science database, possibly also other publications chosen by authors.
2020
- Trizuljak, J; Sperr, WR; Nekvindova, L; Elberink, HO; Gleixner, KV; Gorska, A; Lange, M; Hartmann, K; Illerhaus, A; Bonifacio, M; Perkins, C; Elena, C; Malcovati, L; Fortina, AB; Shoumariyeh, K; Jawhar, M; Zanotti, R; Bonadonna, P; Caroppo, F; Zink, A; Triggiani, M; Parente, R; von Bubnoff, N; Yavuz, AS; Hagglund, H; Mattsson, M; Panse, J; Jakel, N; Kilbertus, A; Hermine, O; Arock, M; Fuchs, D; Sabato, V; Brockow, K; Bretterklieber, A; Niedoszytko, M; van Anrooij, B; Reiter, A; Gotlib, J; Kluin-Nelemans, HC; Mayer, J; Doubek, M; Valent, P, 2020: Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification. ALLERGY 75(8), p. 1927 - 1938, doi: 10.1111/all.14248
- Trizuljak, J; Petruchova, T; Blahakova, I; Vrzalova, Z; Horinova, V; Doubkova, M; Michalka, J; Mayer, J; Pospisilova, S; Doubek, M, 2020: Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin. MOLECULAR SYNDROMOLOGY 11(2), p. 73 - 82, doi: 10.1159/000507006
2019
- Doubkova, M; Kozubik, KS; Radova, L; Pesova, M; Trizuljak, J; Pal, K; Svobodova, K; Reblova, K; Svozilova, H; Vrzalova, Z; Pospisilova, S; Doubek, M, 2019: A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia. HUMAN GENOME VARIATION 6, doi: 10.1038/s41439-019-0044-z
- Kozubik, KS; Trizuljak, J; Peova, M; Pal, K; Reblova, K; Radova, L; Pospiilova; Doubek, M, 2019: A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia. EUROPEAN JOURNAL OF HUMAN GENETICS 27, p. 208 - 208
- Trizuljak, J; Doubkova, M; Hrazdirova, A; Vrzalova, Z; Blahakova, I; Radova, L; Pospisilova, S; Doubek, M, 2019: A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy. EUROPEAN JOURNAL OF HUMAN GENETICS 27, p. 1252 - 1252
- Doubkova, M; Trizuljak, J; Vrzalova, Z; Hrazdirova, A; Blahakova, I; Radova, L; Pospisilova, S; Doubek, M, 2019: Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. BMC PULMONARY MEDICINE 19(1), doi: 10.1186/s12890-019-0941-4
2018
- Kozubik, KS; Radova, L; Pesova, M; Reblova, K; Trizuljak, J; Plevova, K; Fiamoli, V; Gumulec, J; Urbankova, H; Szotkowski, T; Mayer, J; Pospisilova, S; Doubek, M, 2018: C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies. INTERNATIONAL JOURNAL OF HEMATOLOGY 108(6), p. 652 - 657, doi: 10.1007/s12185-018-2514-3
- Trizuljak, J; Kozubik, KS; Radova, L; Pesova, M; Pal, K; Reblova, K; Stehlikova, O; Smejkal, P; Zavrelova, J; Pacejka, M; Mayer, J; Pospisilova, S; Doubek, M, 2018: A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. PLATELETS 29(8), p. 827 - 833, doi: 10.1080/09537104.2018.1529300
- Expression and function of activation-induced cytidine deaminase splice variants in normal B cell physiology and chronic lymphocytic leukemia (3SGA5792), Jihomoravský kraj, 2013 - 2016
- Functional and structural changes of microRNAs in lymphoproliferative malignancies and their impact on prognosis and prediction of therapy response (NT11218), Ministry of Health - Ministry of Health´s Departmental Research and Development Programme III (2010-2015), 2010 - 2015
- NGS-PTL - Next Generation Sequencing platform for targeted Personalized Therapy of Leukemia (306242), Evropská unie, 2012 - 2015
- SuPReMMe - Podpora profesního růstu a mezinárodní integrace výzkumných týmů v oblasti molekulární medicíny (CZ.1.07/2.3.00/20.0045), Ministerstvo školství, mládeže a tělovýchovy ČR, 2011 - 2014
- Real-time PCR soupravy pro diagnostiku v onkologii (FR-TI2/254), Ministerstvo průmyslu a obchodu ČR, 2010 - 2013
- Functional and molecular characteristics of cancer and normal stem cells - identification of targets for novel therapeutics and therapeutic strategies (MSM0021622430), Ministerstvo školství, mládeže a tělovýchovy ČR, 2007 - 2013
- Involvement of nuclear HMGB proteins in sensitizing of human cells to anticancer drugs inhibiting DNA topoizomerases (GAP301/10/0590), Czech Science Foundation - Standard Grants, 2010 - 2012
- Analysis of changes in genome and its expression in chronic lymphocytic leukemia patients during the disease development (NS10439), Ministry of Health - Departmental Programme of Research and Development (2008-2011), 2009 - 2011