Project information
Searching and functional testing of gene variants predisposing to familial haematopoietic disorders
- Project Identification
- NU20-08-00137
- Project Period
- 5/2020 - 12/2023
- Investor / Pogramme / Project type
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Ministry of Health of the CR
- Ministry of Health Research Programme 2020 - 2026
- Subprogram 1 - standard
- MU Faculty or unit
- Central European Institute of Technology
- Cooperating Organization
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University Hospital Brno-Bohunice
- Responsible person Ing. Zuzana Vrzalová, Ph.D.
Vyhledávání a funkční testování variant genů predisponujících k familiárním onemocněním krvetvorby
Sustainable Development Goals
Masaryk University is committed to the UN Sustainable Development Goals, which aim to improve the conditions and quality of life on our planet by 2030.
Publications
Total number of publications: 27
2021
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Functional analysis of germlineETV6 W380Rmutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia
Platelets, year: 2021, volume: 32, edition: 6, DOI
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Functional analysis of new variant GP1BA gene in inherited macrotrombocytopenia.
Year: 2021, type: Conference abstract
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Kongenitální neutropenie u dětí a dospělých
Transfúze a hematologie dnes, year: 2021, volume: 27, edition: 4, DOI
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Maskovaná hypodiploidie u pacientů s akutní lymfoblastickou leukémií
Year: 2021, type: Conference abstract
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Molekulárně genetická diagnostika familiárních onemocnění krvetvorby.
Year: 2021, type: Conference abstract
2020
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Dědičná trombocytopenie na podkladě patogenní varianty genu MYH9 diagnostikovaná u dospělé ženy.
Transfúze a hematologie dnes, year: 2020, volume: 26, edition: 4
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Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin
Molecular Syndromology, year: 2020, volume: 11, edition: 2, DOI