Sökning: "Mutation testing"

Visar resultat 11 - 15 av 67 avhandlingar innehållade orden Mutation testing.

1. 11. Underlying genetic mechanisms of hereditary dystrophies in retina and cornea

   Författare :Jonsson Frida; Irina Golovleva; Carlo Rivolta; Umeå universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Cornea; retina; gene; mutation detection; inherited diseases; genetik; Genetics;

   Sammanfattning : Inherited retinal and corneal dystrophies represent a group of disorders with great genetic heterogeneity. Over 250 genes are associated with retinal diseases and 16 genes are causative of corneal dystrophies. LÄS MER

3. 12. Mutation Carriers' Perspectives on Lynch Syndrome; self-concept and lived experiences

   Författare :Helle Vendel Petersen; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; questionaries; lived experinces; anxiety; validity: sense of coherence; self-concept; psychological impact; interviews; phenomenology; Lynch syndrome;

   Sammanfattning : Lynch syndrome is a hereditary cancer syndrome that predisposes to several types of cancer, including colorectal cancer, endometrial cancer and ovarian cancer. Genetic testing for Lynch syndrome has been available since the mid-1990’s, which implies that an increasing number of individuals live with knowledge of a high risk of cancer. LÄS MER

4. 13. In vitro contracture testing for the diagnosis of malignant hyperthermia susceptibility

   Författare :Gunilla Islander; Anestesiologi och intensivvård; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; intensive care; Anestesiologi; Anaesthesiology; specificity; IVCT; Malignant hyperthermia susceptibility; skeletal muscle; inheritance pattern; sensitivity; reproducibility; intensivvård;

   Sammanfattning : Malignant hyperthermia (MH) susceptibility is a rare inherited muscular disorder, which may cause a lethal increase in metabolism during anaesthesia with certain commonly used anaesthetic. Susceptible individuals are without any signs or symptoms. It is important to identify individuals at risk, since the MH reaction is preventable. LÄS MER

5. 14. Tools for Discovery, Refinement and Generalization of Functional Properties by Enumerative Testing

   Författare :Rudy Matela Braquehais; University of York; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES;

   Sammanfattning : This thesis presents techniques for discovery, refinement and generalization of properties about functional programs. These techniques work by reasoning from test results: their results are surprisingly accurate in practice, despite an inherent uncertainty in principle. LÄS MER

7. 15. Evolutionary Consequences of Reproductive Strategies : Testing Theory on Sex and Reproductive Gene Evolution in the Fungal Model Neurospora

   Författare :Kristiina Nygren; Hanna Johannesson; Tatiana Giraud; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Biology; Biologi; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

   Sammanfattning : In this thesis, I used the filamentous ascomycete genus Neurospora as a model to test theoretical predictions on the evolutionary consequences of different reproductive strategies and reproductive gene evolution. The genus Neurospora contains taxa representing a diversity of reproductive strategies, and here I constructed a phylogeny by which I was able to show that several independent transitions in reproductive mode have occurred in the evolutionary history of the genus. LÄS MER