Home > Search Results: Kubínová, Kristýna
Search:
Search Tips :: Advanced Search
Search collections:
Sort by: Display results: Output format:
National Repository of Grey Literature 2 records found  Search took 0.00 seconds. 
Určení frekvence mutací genu pro fumaráthydratázu u pacientek s děložními myomy
 Kubínová, Kristýna ; Mára, Michal (advisor) ; Halaška, Michael (referee) ; Baxová, Alice (referee)
Introduction: Uterine fibroids are the most common benign tumours of female genital tract with the peak incidence in the 4th and 5th decennium. The aetiology of uterine fibroids still remains poorly understood. Genetic factors play undisputed role in the onset of uterine fibroids. Up to date numerous gene mutations were identified in certain percentage of patients with uterine fibroids. One of the candidate genes is Fumarate hydratase gene (FH). Heterozygous germiline mutations of FH cause two hereditary syndromes: Multiple smooth muscle tumours of the skin and uterus (MCUL1)/ Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) characterised by leiomyomata of the skin, early onset uterine fibroids between 20-30 years of age and renal papillary carcinoma. The aim of our thesis was to identify the frequency of FH mutations in patients with early onset sporadic uterine fibroids. Methods: Patients with the diagnosis of uterine fibroids up to the age of 30 years were enrolled in the study. Control group consisted of patients with absence of uterine fibroids. Activities of Fumarate hydratase and control protein Citrate synthase were measured in lymphocytes and compared to the results obtained from the healthy controls. Mutation analysis of FH gene was performed. Activity of Fumarate...
Detailed record
Určení frekvence mutací genu pro fumaráthydratázu u pacientek s děložními myomy
 Kubínová, Kristýna ; Mára, Michal (advisor) ; Halaška, Michael (referee) ; Baxová, Alice (referee)
Introduction: Uterine fibroids are the most common benign tumours of female genital tract with the peak incidence in the 4th and 5th decennium. The aetiology of uterine fibroids still remains poorly understood. Genetic factors play undisputed role in the onset of uterine fibroids. Up to date numerous gene mutations were identified in certain percentage of patients with uterine fibroids. One of the candidate genes is Fumarate hydratase gene (FH). Heterozygous germiline mutations of FH cause two hereditary syndromes: Multiple smooth muscle tumours of the skin and uterus (MCUL1)/ Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) characterised by leiomyomata of the skin, early onset uterine fibroids between 20-30 years of age and renal papillary carcinoma. The aim of our thesis was to identify the frequency of FH mutations in patients with early onset sporadic uterine fibroids. Methods: Patients with the diagnosis of uterine fibroids up to the age of 30 years were enrolled in the study. Control group consisted of patients with absence of uterine fibroids. Activities of Fumarate hydratase and control protein Citrate synthase were measured in lymphocytes and compared to the results obtained from the healthy controls. Mutation analysis of FH gene was performed. Activity of Fumarate...
Detailed record

See also: similar author names
14 KUBÍNOVÁ, Kateřina
1 Kubínová, Karolína
14 Kubínová, Kateřina
Interested in being notified about new results for this query?
Subscribe to the RSS feed.
Digital Repository :: Search :: Submit :: Personalize :: Help
Powered by Invenio v1.1.2
Maintained by admin.invenio@techlib.cz
This site is also available in the following languages:
Česky  English