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: 19
2023
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Analýza variant genu ANKRD 26 v 5´ nepřekládané oblasti u kohorty pacientů s podezřením na dědičné hematologické onemocnění.
Year: 2023, type: Conference abstract
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Funkční efekt nově identifikované varianty v genu CYCS u rodiny s trombocytopenií typu 4.
Year: 2023, type: Conference abstract
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Nově identifikovaná varianta v genu CYCS u rodiny s trombocytopenií typu 4 a její funkční dopad.
Year: 2023, type: Conference abstract
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
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Analysis of ANKRD26 gene 5´UTR variant in a cohort of Czech patients with suspected hereditary hematological disorder
Year: 2022, type: Conference abstract
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Delece 22q12 u pacienta s bilaterálním schwannomem zachycená kombinací metod NGS, MLPA a array-CGH.
Year: 2022, type: Conference abstract
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Genetic background of leukemia in the context of clinical practice
Year: 2022, type:
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Genetická diagnostika familiárních onemocnění krvetvorby a stanovení jejich funkčního dopadu.
Year: 2022, type: Conference abstract
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In-frame deletions and insertions in the TP53 gene identified in leukemia patients result in p53 protein inactivation.
Year: 2022, type: Conference abstract
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Loss of heterozygosity inEIF3F gene leading to intellectual disability in two siblings
Year: 2022, type: Conference abstract