Search for dissertations about: "trinucleotide repeat disorder"

Showing result 1 - 5 of 8 swedish dissertations containing the words trinucleotide repeat disorder.

2. 1. 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

4. 2. Fuchs’ endothelial corneal dystrophy : Genetic aetiology and as a risk factor in cataract surgery

   Author : Andreas Viberg; Berit Byström; Irina Golovleva; Patrik Danielson; Madeleine Zetterberg; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Fuchs’ endothelial corneal dystrophy; genetics; TCF4; trinucleotide repeat disorder; registry-based study; cataract surgery; outcome; PROM; corneal transplantation; dense cataract; posterior capsule rupture; oftalmiatrik; ophthalmology; Clinical Genetics; klinisk genetik;

   Abstract : Fuchs’ endothelial corneal dystrophy (FECD) is a bilateral, often hereditary degenerative corneal disease, in which the disrupted endothelial cell function causes corneal swelling and reduced vision. An early clinical sign of FECD is corneal guttata, an irregularity of the endothelial layer. READ MORE

5. 3. Genomic studies of expanded trinucleotide repeats : focus on neuropsychiatric disorders

   Author : Kerstin Lindblad; Karolinska Institutet; Karolinska Institutet; []
   Keywords : affective disorder; CTG18.1; DNA; ERDA1; expanded trinucleotide repeats; gene isolation; mutation; Parkinson s disease; repeat expansion detection; repeat instability; spinocerebellar ataxia;

   Abstract : In a number of neurological and neuropsychiatric disorders, a worsening of the disease phenotype from one generation to the next has been linked to expanded trinucleotide repeat sequences that increase in size upon transmission. The clinical phenomenon of an earlier age of onset or a more severe phenotype in later generations of a family has been termed anticipation. READ MORE

6. 4. Molecular genetic studies on Huntington disease

   Author : Elisabeth Almqvist; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Huntington disease; PCR; predictive testing;

   Abstract : Huntington disease (HD) is an autosomal dominant neurodegenerative disorder associated with an expanded trinucleotide repeat (CAG). Prior to the gene identification in 1993, linkage analysis was used for predictive testing for at-risk individuals. READ MORE

7. 5. Gene expression profiles at the myotonic dystrophy 1 locus : possible role in disease mechanisms

   Author : Maria Eriksson; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Myotonic dystrophy 1 (DM1) is the commonest adult onset muscular dystrophy, (prevalence 1/8000). The disorder is characterized by anticipation (earlier onset in successive generations, which is accompanied in this disorder by an increase in severity of symptoms) and variable multisystemic symptom presentation. READ MORE