Sökning: "Mutation testing"

Visar resultat 6 - 10 av 67 avhandlingar innehållade orden Mutation testing.

1. 6. Methodological aspects and usefulness of Quantitative Sensory Testing in early small fiber polyneuropathy : a clinical study in Swedish hereditary transthyretin amyloidosis patients

   Författare :Victoria Heldestad; Erik Nordh; Ole Suhr; Göran Solders; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyloidosis; cold thresholds; heart rate variability; method-of-limits; quantitative sensory testing; transthyretine; warm thresholds; Clinical Neurophysiology; klinisk neurofysiologi;

   Sammanfattning : Generalised polyneuropathy (PNP) is a common cause to neurological impairment, and may be an early symptom of a severe systemic disease. One such illness is hereditary transthyretin (TTR) amyloidosis (ATTR), a progressive fatal disorder caused by a mutation on the TTR gene. LÄS MER

3. 7. Application of In Vitro Chemosensitivity Testing for Evaluation of New Cytotoxic Drugs in Chronic Lymphocytic Leukaemia

   Författare :Anna Åleskog; Jan Liliemark; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical drug development; chronic lymphocytic leukaemia; cytotoxicity; in vitro assay; cytotoxic drug development; CHS 828; IgVH mutation status; Klinisk läkemedelsutveckling; Pharmaceutical chemistry; Läkemedelskemi; Clinical Pharmacology; klinisk farmakologi;

   Sammanfattning : Despite major advances in the understanding of the biology of chronic lymphocytic leukaemia (CLL), progress in improving its treatment has been limited and it still remains an incurable disorder. In the present research, we have performed in vitro drug sensitivity testing of primary CLL cells for preclinical evaluation of cytotoxic drugs, using the fluorometric microculture cytotoxicity assay (FMCA). LÄS MER

4. 8. Hereditary breast/ovarian cancer : implementation of BRCA1 and BRCA2 testing

   Författare :Brita Arver; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Breast cancer is the most common malignancy among women in the western world. Most cases are sporadic but in 5 to 10 % an inherited genetic mutation is the main cause of the disease. LÄS MER

5. 9. Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations

   Författare :Anna Rohlin; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary Colorectal cancer; FAP; AFAP; mutations; mosaic mutation; exome sequencing; massively parallel sequencing; next generation sequencing; atypical polyposis; APC; POLE; GREM1; PPAP;

   Sammanfattning : Hereditary factors are thought to play are role in 20-30% of all colorectal cancers Around 6% are found as high penetrant disease-causing mutations in genes correlated to hereditary polyposis or hereditary non-polyposis syndromes. The aim of this thesis was to identify new causative genes and variants and also mutation mechanisms in families presenting a polyposis, atypical polyposis or nonpolyposis CRC phenotype. LÄS MER

7. 10. Automatic test generation for industrial control software

   Författare :Eduard Enoiu; Daniel Sundmark; Mats Heimdahl; Mälardalens högskola; []
   Nyckelord :TEKNIK OCH TEKNOLOGIER; ENGINEERING AND TECHNOLOGY; automatic test generation; software testing; automated test generation; Computer Science; datavetenskap;

   Sammanfattning : Since the early days of software testing, automatic test generation has been suggested as a way of allowing tests to be created at a lower cost. However, industrially useful and applicable tools for automatic test generation are still scarce. LÄS MER