Search for dissertations about: "mutation-specific"

Found 4 swedish dissertations containing the word mutation-specific.

  2. 1. Long QT syndrome in Sweden : founder effects and associated cardiac phenotypes

    Author : Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Long QT Syndrome; Jervell and Lange-Nielsen Syndrome; inherited arrhythmia; founder effects; clinical genetics; haplotype analysis; mutation age; founder mutation; clinical phenotype; life-threatening cardiac events; mutation-specific; KCNQ1 gene; modifier genes; sequence variants; risk stratification; risk factor; gender; pediatrik; Pediatrics;

    Abstract : Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p. READ MORE

  4. 2. Blood- and tumor-based analyses for improved prognostics in lung cancer

    Author : Sofi Isaksson; Bröstcancer-genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Abstract : Lung cancer is a common cancer type associated with poor prognosis. Even in the group of patients with earlystage tumors, for which curative treatment is possible, lung cancer recurrence is frequent. READ MORE

  5. 3. Biomarkers in preclinical familial Alzheimer disease

    Author : Steinunn Thordardottir; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Background: Alzheimer disease (AD) is a neurodegenerative disorder, characterized by the accumulation of b-amyloid (Ab) plaques and tangles consisting of hyperphosphorylated tauprotein in the brain. It accounts for 60-70% of dementia cases, making it the most common cause of dementia. READ MORE

  6. 4. Clinical implementation of novel diagnostic biomarkers for epithelial ovarian cancer - Can we improve diagnosis?

    Author : Maria Lycke; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Ovarian neoplasms; EOC; Diagnosis; protein biomarkers; HE4; CA125; Algorithms; RMI; ROMA; NGS; rare mutations; liquid biopsies; screening;

    Abstract : Background: Epithelial ovarian cancer (EOC) is the most lethal gynecologic cancer. The 5-year survival is about 30%, a consequence of failure to establish early diagnosis due to unspecific symptoms. READ MORE