Sökning: "genome wide scan"

Visar resultat 21 - 25 av 34 avhandlingar innehållade orden genome wide scan.

1. 21. Molecular Genetic Studies of ALSG, Kostmann Syndrome and a Novel Chromosome 10 Inversion

   Författare :Miriam Entesarian; Niklas Dahl; Niels Tommerup; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : In summary, this thesis presents the localisation and identification of genetic variants of which some are disease associated and some considered to be neutral. Knowledge of the basic mechanisms behind human disorders is important both from a biological and medical point of view. LÄS MER

3. 22. Genetic and epidemiological studies of infantile hypertrophic pyloric stenosis

   Författare :Anna Svenningsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Infantile Hypertrophic Pyloric Stenosis (IHPS) is a condition of early infancy characterized by thickening of the pyloric muscle resulting in obstruction of gastric outflow. It affects 1-3/1000 live births and is one of the most common causes of gastrointestinal obstruction in infants. LÄS MER

4. 23. FOXC2 and CAPN10 as candidate genes for obesity, insulin resistance and type 2 diabetes

   Författare :Emma A Nilsson; diabetes och endokrinologi Genomik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Biomedicinska vetenskaper; Biomedical sciences; Type 2 diabetes; Genetics; Obesity;

   Sammanfattning : The worldwide prevalence of obesity and type 2 diabetes is increasing rapidly. Both disorders depend on genetic and environmental factors. The studies included in this thesis investigated the possible association of the FOXC2 and CAPN10 genes with obesity, insulin resistance, type 2 diabetes, and related phenotypes. LÄS MER

5. 24. Genetic studies of diabetes in northern Sweden

   Författare :Sofia Mayans; Dan Holmberg; Mats Eliasson; Outi Vaarala; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Diabetes; families; genetic; association; SNP; linkage; TCF7L2; CTLA-4; Calpain-10; Medical genetics; Medicinsk genetik;

   Sammanfattning : Diabetes mellitus represents a group of metabolic disorders caused by both environmental and genetic factors. The two most common forms of diabetes are type 2 diabetes (T2D) and type 1 diabetes (T1D). T2D is associated with obesity and the disease is caused by insulin resistance and pancreatic b-cell dysfunction. LÄS MER

7. 25. Gene mapping of reproduction traits in dairy cattle

   Författare :Johanna Karolina Höglund; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
   Nyckelord :LANTBRUKSVETENSKAPER; AGRICULTURAL SCIENCES;

   Sammanfattning : In this thesis my aims were to map genes affecting reproduction in cattle and to explore the correlated effect of these genes on yield traits. This knowledge is expected to provide novel insights into the biological processes underlying reproduction traits and to identify individual causal polymorphisms or genetic markers for practical application in marker-assisted and genomic selection strategies. LÄS MER