Sökning: "genotype-phenotype"

Visar resultat 1 - 5 av 60 avhandlingar innehållade ordet genotype-phenotype.

1. 1. Genotype/ phenotype correlation of two neuropsychiatric diseases. A genetic study of CDG1a and Rett syndrome

   Författare :Anna Erlandson; Göteborgs universitet; []
   Nyckelord :CDG 1a; PMM2; Rett syndrome; MECP2; mutations; genotype phenotype; DHPLC; MLPA;

   Sammanfattning : The aim of this thesis was to investigate the effects of mutations in the genes that cause the two neuropsychiatric diseases congenital disorder of glycosylation (CDG) type Ia and Rett syndrome. These two diseases affect children's central and peripheral nervous systems, causing mental retardation and neuronal impairment. LÄS MER

3. 2. Genotype-phenotype studies in brain tumors

   Författare :Soma Ghasimi; Ulrika Andersson; Beatrice Melin; Roger Henriksson; Clemens Dirven; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Glioma; Meningioma; SNP; IHC; FISH; LRIG2; EGF; EGFR; ERBB2; ER; CDKN2A B; IDH1; onkologi; Oncology;

   Sammanfattning : Meningioma and glioma are the most common primary brain tumors, but their etiologies are largely unknown. Although meningioma is usually benign, their intracranial location can lead to lethal consequences, and despite progress in surgery, radiotherapy, and chemotherapy the prognosis for patients with glioma remains poor. LÄS MER

4. 3. Complement-mediated kidney diseases: Genotype, phenotype and inhibition studies

   Författare :S.S. Aradottir; Lund Pediatrik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; The complement system; factor B; factor D; danicopan; Atypical hemolytic uremic syndrome; C3 glomerulopathy; Membranoproliferative glomerulonephritis; genes; monozygotic twins;

   Sammanfattning : Complement-mediated kidney diseases are ultrarare conditions characterized by excess complement activation related in most cases to complement gene variants or circulating autoantibodies. These conditions are chronic and can lead to kidney failure. LÄS MER

5. 4. Genotype-phenotype relations in SF3B1 mutated myelodysplastic syndromes with ring sideroblasts

   Författare :Simona Conte; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Myelodysplastic syndrome with ring sideroblasts (MDS-RS) is a clonal hematopoietic stem cell disorder characterized by hyperplastic and ineffective erythropoiesis, ring sideroblasts in the bone marrow, and anemia. Heterozygous mutations in the spliceosome gene SF3B1 are found in a majority of MDS-RS cases and are associated with the ring sideroblast phenotype and a favorable prognosis. LÄS MER

7. 5. Rare pediatric movement disorders : clinical aspects of genotype, phenotype, and assessment

   Författare :Annika Danielsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Pediatric movement disorders are defined by an impaired ability to initiate and control movements. Dystonia, one of these disorders, may cause a life-long severe motor disability. Pharmacological treatment is often insufficient, but deep brain stimulation (DBS) has turned out to be effective for some dystonia subtypes. LÄS MER