Sökning: "Ola Sandgren"

Hittade 3 avhandlingar innehållade orden Ola Sandgren.

  1. 1. Bothnia dystrophy, a clinical, genetical and electrophysiological study

    Författare :Marie Burstedt; Ola Sandgren; Ola Textorius; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Ophtalmology; retinal pigment epithelium; retinitis pigmentosa; neural retina; electroretinogram; cellular retinaldehyde-binding protein; dark adaptometry; retinal degeneration; Oftalmiatrik; Ophtalmology; Oftalmologi; Ophtalmology; oftalmiatrik;

    Sammanfattning : A high frequency of retinitis pigmentosa (RP) is found in Northern Sweden. In an inventory of autosomal recessive RP patients in Västerbotten County, a great number of cases with a unique phenotype was noticed, denoted Bothnia Dystrophy (BD). LÄS MER

  3. 2. Array-based Genomic and Epigenomic Studies in Healthy Individuals and Endocrine Tumours

    Författare :Johanna Sandgren; Gunnar Westin; Teresita Diaz de Ståhl; Göran Åkerström; Ola Hessman; Winand Dinjens; Uppsala universitet; []
    Nyckelord :genome; copy number variants; cancer; Pheochromocytoma; epigenome; array-CGH; ChIP-chip; gene expression; tumour suppressor genes; oncogenes; MEDICINE; MEDICIN; Kirurgi; Surgery;

    Sammanfattning : The human genome is a dynamic structure, recently recognized to present with significant large-scale structural variation. DNA-copy number changes represent one common type of such variation and is found both between individuals and within the somatic cells of the same individual, especially in disease states like cancer. LÄS MER

  4. 3. Genetics, epigenetics and functional mechanisms in inherited corneal and retinal dystrophies

    Författare :Ida Maria Westin; Irina Golovleva; Berit Byström; Marie Burstedt; Ola Sandgren; Sudha Iyengar; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Epigenetics; Splicing; Methylation; Ophtalmology; FECD; Stargardt; Retinitis pigmentosa; ABCA4; EYS; TCF4; F5; THBD; Coagulation factor V; Thrombomodulin; medicinsk genetik; Medical Genetics;

    Sammanfattning : Inherited eye disorders (IED) are groups of genetically and clinically heterogenous conditions affecting different tissues in the eye. IED are most often progressive with reduced vision or legal blindness as outcome. LÄS MER