Sökning: "common founder"

Visar resultat 1 - 5 av 36 avhandlingar innehållade orden common founder.

1. 1. Towards application of service oriented architecture in wireless sensor networks

   Författare :Rumen Kyusakov; Zach Shelby; Luleå tekniska universitet; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; Industriell elektronik; Industrial Electronics;

   Sammanfattning : Wireless sensor networks (WSN) are a foreseeable source of innovation in many fields and the number of WSN deployments is expected to grow rapidly in the near future. One of the key challenges in designing, implementing, deploying and maintaining complex systems that use WSNs is provisioning and integration of sensor data with existing communication infrastructures. LÄS MER

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

   Författare :Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

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

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

   Sammanfattning : 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. LÄS MER

5. 4. Genetic and Molecular analysis of the Spinocerebellar ataxia type 7 (SCA7) disease gene

   Författare :Jenni Jonasson; Monica Holmberg; Christine Van Broeckhoven; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Spinocerebellar ataxia; human genetics; linkage analysis; anticipation; CAG repeat expansion; founder effect; protein expression; ATXN7; Medical genetics; Medicinsk genetik;

   Sammanfattning : Spinocerebellar ataxia type 7 (SCA7) is a hereditary neurodegenerative disorder affecting the cerebellum, pons and retina. SCA7 patients present with gait ataxia and visual impairment as the main symptoms. LÄS MER

7. 5. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy

   Författare :Nina Norgren; Ole Suhr; Alda Sousa; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary transthyretin amyloidosis; Familial amyloid polyneuropathy; transthyretin; genealogy; founder effect; miRNA; allele-specific expression; gene expression; liver; medicin; Medicine;

   Sammanfattning : Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. LÄS MER