Sökning: "factor 8 gene"

Visar resultat 1 - 5 av 416 avhandlingar innehållade orden factor 8 gene.

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

   Författare :Annika Mårtensson; Enheten för pediatrisk hematologi; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

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

   Författare :Tor Svensjö; Lunds universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

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

   Författare :Patrick Buckley; Jan Dumanski; Olivier Delattre; Uppsala universitet; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

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

   Författare :Isabel Drake; Nutritionsepidemiologi; []
   Nyckelord :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;

   Sammanfattning : 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. LÄS MER

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

   Författare :Thi Thai Hanh Trinh; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : 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. LÄS MER