Search for dissertations about: "MLPA"

Showing result 1 - 5 of 8 swedish dissertations containing the word MLPA.

  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. Mechanisms in disorders of sex development

    Author : Michela Barbaro; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : “Is it a boy or a girl?” This is usually the first question that parents have when their baby is born. Sometimes it is not possible to give an immediate answer. This is the case when the newborn presents ambiguous external genitalia and an immediate sex assignment is not possible. READ MORE

  5. 3. Unraveling genetic mechanisms in autism spectrum disorders

    Author : Anna Bremer; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by impairments in socialization and communication accompanied by repetitive and stereotypic behaviors. ASDs are highly heritable and heterogeneous with a complex genetic etiology. READ MORE

  6. 4. From gene mutation to gene expression : studies on multiple endocrine neoplasia type 1 and vascular endothelial growth factors

    Author : Emma Tham; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Multiple endocrine neoplasia type 1; mutation detection; Vascular Endothelial Growth Factors; recombinant protein; dilated cardiomyopathy; multiple sclerosis;

    Abstract : Multiple Endocrine Neoplasia type 1, MEN1, is an inherited cancer syndrome whose gene was localised to chromosome 11q13 in 1988. A number of !candidate genes were characterised before the MEN1 gene was cloned in 1997. DNA sequencing of MEN1 to search for mutations in patients is used as a complement to clinical diagnosis. READ MORE

  7. 5. Genetic studies of neurodevelopmental disorders

    Author : Josephine Wincent; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Neurodevelopmental disorders (NDDs) constitute a heterogeneous group of disorders that adversely impacts a child’s behavioural and learning processes. Developmental delay (DD) and mental retardation are included among the NDDs and are frequently associated with a wide range of accompanying disabilities such as multiple congenital anomalies and dysmorphic features. READ MORE