Search for dissertations about: "chromosomal disorder"

Showing result 1 - 5 of 34 swedish dissertations containing the words chromosomal disorder.

2. 1. Structural chromosomal aberrations and neuropsychiatric disorders

   Author : Tonnie Johannesson; Göteborgs universitet; []
   Keywords : Autism spectrum disorders; chromosomes; FISH; balanced; translocations;

   Abstract : Infantile autism (IA) is a severe neurodevelopment disorder with a complex genetic predisposition. The underlying causes of autism are still not understood. READ MORE

4. 2. Candidate genes and chromosomal loci in multiple sclerosis

   Author : Chun Xu; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system with a putatively autoimmune etiology. The pathophysiological basis of MS is incompletely known, although both genetic and environmental factors are presumed to be of importance. READ MORE

5. 3. Trinucleotide repeats and neuropsychiatric phenotypes

   Author : Qiu-Ping Yuan; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Trinucleotide; repeat expansion; psychiatric disorder; gene; spastic paraplegia;

   Abstract : Genetic studies of affective disorders have yielded several chromosomal regions suggestive for linkage. Linkage analysis was performed in five families with unipolar affective disorder, collected from northern Sweden. Four candidate regions on chromosomes 16, 18, 21 and 4p were excluded. READ MORE

6. 4. Prenatal diagnosis in routine antenatal care : a randomised controlled trial

   Author : Sissel Saltvedt; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Ultrasound; fetal ultrasonography; Down s syndrome; chromosomal disorder; nuchal translucency; genetic screening; prenatal diagnosis; abnormalities; gestational age; in vitro fertilization; fetometry; dating formulas; false positive reactions; anxiety;

   Abstract : Nuchal translucency (NT) measurement combined with maternal age has been shown to identify women at an increased risk of carrying a fetus with Down's syndrome (DS) more accurately than does maternal age alone. The aim of this study was to evaluate more widely the effects of two different strategies for prenatal diagnosis. READ MORE

7. 5. The genetic contribution to stroke in northern Sweden

   Author : Tomas Janunger; Dan Holmberg; Holger Luthman; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Northern Sweden; stroke; genetics; genome wide scan; association; 5q13; 9q31-33; Medical genetics; Medicinsk genetik; medicinsk genetik; Medical Genetics;

   Abstract : Stroke is a common multi factorial cerebrovascular disorder with a large impact on global health. It is a disorder primarily associated with old age but environmental factors, lifestyle choices and medical history are all important for the risk of developing the disorder. READ MORE