Sökning: "Genetic disorders"

Visar resultat 1 - 5 av 468 avhandlingar innehållade orden Genetic disorders.

1. 1. Genetic investigations of four neurological disorders : From phenotype to mutation

   Författare :Anna Sillén; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pediatrics; genetic disease; chromosome; microsatellite; linkage analysis; mutation; Pediatrik; Paediatric medicine; Pediatrisk medicin; klinisk genetik; Clinical Genetics;

   Sammanfattning : More than 5000, more or less rare, genetic diseases are known in man. A genetic disease is in most casesinherited from one generation to the next, and is caused by a change in the genetic code, a mutation. LÄS MER

3. 2. On certain genetic and metabolic risk factors for carotid stenosis and stroke

   Författare :Pär Wanby; Lars Brudin; Martin Carlsson; Milita Crisby; Linköpings universitet; []
   Nyckelord :LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Carotid artery diseases; Carrier proteins; genetics; Cerebrovascular accident; Cerebrovascular disorders; Genetic predisposition to disease; Polymorphism; genetic; Medicine; Medicin; Medicin;

   Sammanfattning : The present study evaluated genetic and metabolic factors influencing the risk of acute cerebrovascular disease (CVD) and internal carotid artery stenosis (ICA stenosis) in a Swedish community. The threonine (T) containing protein of the FABP2 A54T gene polymorphism has a greater affinity for long chain fatty acids (FFAs) than the alanine (A) containing protein. LÄS MER

4. 3. Genetic studies in mood disorders

   Författare :Magnus Lekman; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Mood disorders, including bipolar disorder (BPD) and major depressive disorder (MDD), are highly complex psychiatric disorders. Decades of genetic studies have generated a large number of putative genetic susceptibility variants. However, with exception of CACNA1C, SYNE1 and ANK3 in BPD no robust association has as yet been identified. LÄS MER

5. 4. lnternalizing problems in childhood and adolescence: predictive, etiological, and neurodevelopmental aspects

   Författare :Sabrina Doering; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Internalizing disorders; Anxiety disorders; Depressive disorders; Neurodevelopmental disorders; Education; Twin study; Age of onset; Prevalence;

   Sammanfattning : Internalizing disorders such as anxiety and depressive disorders are common mental disorders in childhood and adolescence. They are characterized by disordered emotions and moods, causing emotional distress and impairment. LÄS MER

7. 5. Adoption studies on psychiatric illness : epidemiological, environmental and genetic aspects

   Författare :Anne-Liis von Knorring; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Adoption; adoption outcome; psychiatric illness; gene-environment; early experience; somatoform disorders; affective disorders; substance abuse; sick-leave;

   Sammanfattning : The aim of this study is to evaluate the outcome of adoptions and to study the gene-environment influences on psychiatric illness as well as sick-leave patterns. The material consists of 2 966 adopted persons born between 1917 and 1949, their 5 932 adoptive parents and 5 438 identified biological parents. LÄS MER