Sökning: "penetrance"

Visar resultat 1 - 5 av 59 avhandlingar innehållade ordet penetrance.

1. 1. Amyotrophic lateral sclerosis (ALS) associated with superoxide dismutase 1 (SOD1) mutations in British Columbia, Canada : clinical, neurophysiological and neuropathological features

   Författare :Heather G. Stewart; Hiroshi Mitsumoto; Umeå universitet; []
   Nyckelord :ALS; SOD1; complete penetrance; incomplete penetrance; mis-diagnosis; upper motor neuron; clinical neurophysiology; transcranial magnetic stimulation; peristimulus time histogram; corticospinal pathway; cortical inhibition; cortical hyper-excitability;

   Sammanfattning : Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons and their supporting cells in the brain, brainstem and spinal cord, resulting in muscle paresis and paralysis including the bulbar (speech, chewing, swallowing) and respiratory muscles. The average age at onset is 55 years, and death due to respiratory failure occurs 2-5 years after symptom onset in ~ 85% of cases. LÄS MER

3. 2. Molecular genetic studies of colorectal cancer

   Författare :Xiaolei Zhou; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Colorectal cancer CRC ; high-penetrance alleles; low-penetrance alleles; autism spectrum disorder ASD ; MSI; microarray; metastasis; hMLH3; APC; MYH; TJP3.;

   Sammanfattning : Colorectal cancer (CRC) is one of the leading causes of morbidity and mortality due to cancer in the Western countries. Epidemiological studies have shown that at least 20-30% of CRCs have a potentially identifiable genetic cause. LÄS MER

4. 3. Functional analysis of genetic variants in putative low penetrate breast cancer genes

   Författare :Haixin Lei; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Breast cancer; low penetrance gene; CDH1; ILC; IDC; mutation; SNP; BA CHI; ATM; EST1; cryptic splice site; SR proteins; dinucleotide repeats; splicing silencer.;

   Sammanfattning : Paper I & II: CDH1 germline mutations predispose individuals to diffuse gastric cancer, but its role in breast cancer is less clear. Somatic CDH1 mutations were reported to be frequent in lobular tumours (ILC), but they have not been found in ductal carcinomas (IDC). LÄS MER

5. 4. 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

7. 5. Hypertrophic cardiomyopathy in Northern Sweden : with special emphasis on molecular genetics

   Författare :Stellan Mörner; Åke Hjalmarson; Umeå universitet; []
   Nyckelord :Hypertrophic cardiomyopathy; genetics; autonomic nervous system; familial amyloid polyneuropathy; echocardiography; Epidemiology; epidemiologi;

   Sammanfattning : Hypertrophic cardiomyopathy (HCM) is a heterogeneous, often familial disease, characterized by cardiac hypertrophy, predominantly affecting the interventricular septum. To date, no study has systematically analysed the genetic and phenotypic aspects of the disease in a Swedish population. LÄS MER