Search for dissertations about: "mutation age"

Showing result 1 - 5 of 196 swedish dissertations containing the words mutation age.

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. Genetics of diabetic subtypes

   Author : Camilla Cervin; Diabetes - klinisk obesitasforskning; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Endocrinology; secreting systems; diabetology; Endokrinologi; Mutation; Association; Genetics; LADA; Diabetes; MODY; sekretion; diabetologi;

   Abstract : There are two major types of diabetes mellitus, Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D), however a number of subtypes have been defined and classified. Maternally Inherited Diabetes and Deafness (MIDD) and Maturity Onset Diabetes of the Young (MODY) are monogenic forms, whereas Latent Autoimmune Diabetes in Adults (LADA) is thought to be a polygenic subtype similar to T1D. READ MORE

5. 3. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

   Author : Annika Bergman; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

   Abstract : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. READ MORE

6. 4. Malignant Melanoma in southern Sweden; Histopathology, Prognosis and Aetiology

   Author : Anna Måsbäck; Tumörmikromiljö; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; General pathology; pathological anatomy; Patologi allmän ; patologisk anatomi; constitutional factors.; ulceration; tumour thickness; mutation; CDKN2A; aetiology; epidemiology; prognosis; survival; Malignant melanoma; histopathology;

   Abstract : The purpose was to study the prognostic and aetiologic risk factors for melanoma in correlation to histopathology. Paper 1-3: Thin tumours (... READ MORE

7. 5. Molecular Genetic Alterations In Endometrial And Ovarian Cancers

   Author : Anjila Koul; Bröstcancer-genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; KRAS; PTEN; TP53; Overexpression; Mutation; Microsatellite instability; Complex atypical hyperplasia; Endometrial cancer; Ovarian cancer; cancer; onkologi; Cytologi; cancerology; oncology; Cytology; CNS metastasis; Cytogenetic analysis; BRCA2; BRCA1; B-catenin; CDKN2A;

   Abstract : Endometrial cancer is the most common gynecological cancer diagnosed in western countries. Complex atypical hyperplasia (CAH) reflects a state of hyperestrinism and its role as a precursor lesion of this cancer is established. READ MORE