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
-
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
Publications
Total number of publications: 8
2022
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A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome
International Journal of Molecular Sciences, year: 2022, volume: 23, edition: 2, DOI
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