Sökning: "Chromosomal rearrangements"

Visar resultat 6 - 10 av 49 avhandlingar innehållade orden Chromosomal rearrangements.

  1. 6. Structural chromosomal aberrations and neuropsychiatric disorders

    Författare :Tonnie Johannesson; Göteborgs universitet; []
    Nyckelord :Autism spectrum disorders; chromosomes; FISH; balanced; translocations;

    Sammanfattning : Infantile autism (IA) is a severe neurodevelopment disorder with a complex genetic predisposition. The underlying causes of autism are still not understood. LÄS MER

  3. 7. Analysis of chromosomal rearrangements and gene copy number changes in breast cancer cells

    Författare :Pär Lundin; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Genome changes in terms of numerical chromosomal aberrations and structural rearrangements, including deletions, amplifications and translocations, gradually accumulate in the genome during tumor development. These genomic changes are likely to play an important role in the process of tumor progression. LÄS MER

  4. 8. Characterisation of chromosomal aberrations in childhood leukaemia

    Författare :Ann Nordgren; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Chromosome aberrations; SKY; interphase-FISH; Childhood ALL;

    Sammanfattning : Acute lymphoblastic leukaemia (ALL) is the most common malignancy in childhood, accounting for approximately 25% of all paediatric malignancies. Based on clinical risk criteria and modem laboratory investigations including immunophenotyping, cytogenetics, and molecular genetics, patients can be divided into prognostic groups and assigned to risk- adjusted treatment protocols. LÄS MER

  5. 9. Characterization of structural chromosomal variants by massively parallel sequencing

    Författare :Jesper Eisfeldt; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Chromosomal Structural Variation (SV) such as translocations, inversions, deletions, and duplications are rearrangements of one or several DNA molecules. SVs are widespread across the human genome, and each individual carries thousands of SVs of different types and sizes. LÄS MER

  7. 10. Genome Evolution of Neurospora tetrasperma

    Författare :Yu Sun; Hanna Johannesson; Siv Andersson; Toni Gabaldon; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Neurospora tetrasperma; next-generation sequencing; introgression; intron; chromosomal inversion; codon usage; Biology with specialization in Evolutionary Genetics; Biologi med inriktning mot evolutionär genetik;

    Sammanfattning : In this thesis work, I have used a comparative genomics approach to study a fungal model organism, Neurospora tetrasperma. My specific focus has been on genomic introgression, intron evolution, chromosomal structural rearrangements and codon usage. LÄS MER