Search for dissertations about: "factor 8 gene"

Showing result 1 - 5 of 416 swedish dissertations containing the words factor 8 gene.

  1. 1. Haemophilia in Sweden – Studies on mutations and clinical implications

    Author : Annika Mårtensson; Enheten för pediatrisk hematologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; haemophilia; factor VIII; factor IX; factor 8 gene; factor 9 gene; carriers; prenatal diagnosis; mutations; inhibitors; haplotype;

    Abstract : Introduction: Haemophilia A (HA) and B (HB) are two of our most common inherited bleeding disorders and are due to a variety of gene mutations. Aims: The overall objective of the present research was to perform clinical and basic scientific studies on haemophilia in Sweden to further improve and individualise the care of haemophilia patients and their relatives. READ MORE

  2. 2. Treatment of Skin Wounds with Cell Transplantation and Gene Transfer

    Author : Tor Svensjö; Lunds universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; pigs; gene regulation; cell culture; fibroblasts; keratinocytes; wound healing; skin; gene transfer; Transplantation; gene therapy; Surgery; orthopaedics; traumatology; Kirurgi; ortopedi; traumatologi;

    Abstract : Background: A large number of different wound coverings have been used in order to improve the wound microenvironment, and thus accelerate repair. Since almost two centuries, clinicians and researchers have developed techniques for skin transplantation. READ MORE

  3. 3. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors

    Author : Patrick Buckley; Jan Dumanski; Olivier Delattre; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genomic microarray; Array-CGH; DNA copy number variation; Neurofibromatosis type-2; Schwannomatosis; Schwannoma; Meningioma; NF2; Chromosome 22; Genetik; Clinical genetics; Klinisk genetik;

    Abstract : Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral eighth cranial nerve schwannomas. However, the diagnostic criterion is complicated by the presence of a variable phenotype, with the severe form presenting with additional tumors such as peripheral schwannoma, meningioma and ependymoma. READ MORE

  4. 4. Diabetes mellitus and risk of prostate cancer - A focus on shared risk factors and survivor bias

    Author : Isabel Drake; Nutritionsepidemiologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; carbohydrates; cohort; competing risk; diabetes mellitus; diet; epidemiology; fiber; gene; gene-environment; lifestyle; prostate cancer; survivor bias; transcription factor 7-like 2; whole-grain; alkylresorcinol metabolites;

    Abstract : Prostate cancer (PCa) is a heterogenous disease including very aggressive lethal tumors to incidentally discovered clinically insignificant tumors. Age, ethnicity, and family history are the only established risk factors. READ MORE

  5. 5. Hypospadias : gene mapping and candidate gene studied

    Author : Thi Thai Hanh Trinh; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Hypospadias is a common congenital malformation in boys, characterized by incomplete fusion of the urethral folds, abnormal opening of urethra and different degrees of curvature of the penis. In Sweden, the incidence of hypospadias is 1.14 per 300 male live-births according to the annual Swedish Malformation Registry. READ MORE