Search for dissertations about: "genotype phenotype correlation"

Showing result 1 - 5 of 52 swedish dissertations containing the words genotype phenotype correlation.

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

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

    Abstract : 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. READ MORE

  4. 2. Genotype-phenotype studies in brain tumors

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

    Abstract : 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. READ MORE

  5. 3. Cancer proteogenomics : connecting genotype to molecular phenotype

    Author : Ioannis Siavelis; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : The central dogma of molecular biology describes the one-way road from DNA to RNA and finally to protein. Yet, how this flow of information encoded in DNA as genes (genotype) is regulated in order to produce the observable traits of an individual (phenotype) remains unanswered. Recent advances in high-throughput data, i.e. READ MORE

  6. 4. Usher syndrome. Prevalence and phenotype - genotype correlations

    Author : Mehdi Sadeghi; Göteborgs universitet; []
    Keywords : deafblindness; Usher syndrome; retinitis pigmentosa; prevalence; Usher type I; Usher type II; Usher type III; vestibular deficiency; hereditary hearing loss;

    Abstract : Aims: the main purpose of this thesis was to estimate the prevalence of Usher syndrome type I, II and III in Sweden (study I) and to determine the clinical differences between Usher syndrome subtypes (studies II-IV). The hypothesis to be tested was that different genes for Usher syndrome will produce different phenotypes even when they belong to the same clinical type (studies II and III). READ MORE

  7. 5. Correlation Between Phenotype and Genotype in Some Clinically Important Blood group Systems

    Author : Nidal Irshaid; Avdelningen för hematologi och transfusionsmedicin; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Immunologi; transplantation; serology; transfusion medicine; Blood group; DNA; Immunology; genomic typing; serologi;

    Abstract : In the past decade, the molecular basis for most of the blood group systems has been investigated intensively. Many blood group genes have been cloned and the polymorphisms of clinically significant blood group systems have been elucidated. READ MORE