Sökning: "Klinisk genetik"

Visar resultat 11 - 15 av 434 avhandlingar innehållade orden Klinisk genetik.

1. 11. Molecular investigations on chromosome 21 in relation to Down syndrome and familial congenital hypothyroidism

   Författare :Bodil Edman Ahlbom; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : Chromosomal abnormalities as well as mutations in single genes are genetic changes that can cause syndromes or inherited diseases. Down syndrome (DS), usually a consequence of trisomy 21, is a gene dosage disorder caused by an extra copy of genes on chromosome 21, but the mechanisms whereby specific genes contribute to the clinical features of DS are not known. LÄS MER

3. 12. Diamond-Blackfan anemia : Mapping and identification of the disease gene

   Författare :Peter Gustavsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Diamond-Blackfan anemia; erythropoiesis; positional cloning; chromosome 19q13; ribosomal protein S19 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : This thesis presents the positional cloning of the gene behind Diamond-Blackfan anemia. Evidence for the involvement of ribosomal protein (RP) S19 gene mutations in Diamond-Blackfan anemia is given. This is the first example of a human disease that is directly related to a ribosomal protein. LÄS MER

4. 13. Mitochondria and Human Evolution

   Författare :Max Ingman; Ulf Gyllensten; Peter Underhill; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; mitochondria; hominidae; human evolution; population genetics; Genetik; Clinical genetics; Klinisk genetik; Genetics; genetik;

   Sammanfattning : Mitochondrial DNA (mtDNA) has been a potent tool in studies of the evolution of modern humans, human migrations and the dynamics of human populations over time. The popularity of this cytoplasmic genome has largely been due to its clonal inheritance (in Man) allowing the tracing of a direct genetic line. LÄS MER

5. 14. Genetic studies of schizophrenia

   Författare :Eva Lindholm; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Schizophrenia; complex diseases; mitochondria; large pedigree; linkage analysis; Genetik; Clinical genetics; Klinisk genetik; Genetics; genetik;

   Sammanfattning : The prevalence of schizophrenia is about 1% throughout the world. The disease is characterized by symptoms such as hallucinations, delusions and bizarre behavior. A genetic contribution to the disease was previously shown through epidemiological studies. The mitochondrial DNA was sequenced in four schizophrenic patients. LÄS MER

7. 15. Cytogenetic and molecular analysis of chromosomal rearrangements associated with neuropsychiatric disorders

   Författare :Dmitry Tentler; Niels Tommerup; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mental retardation; autism; Asperger syndrome; chromosomal rearrangement; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : Genetic factors are important in the aetiology of neuropsychiatric disorders. Analysis of chromosomal abnormalities associated with these disorders may provide locus specific information for the identification of candidate genes and, subsequently, for our understanding of brain development and functioning. LÄS MER