Sökning: "Autosomal dominant"

Visar resultat 1 - 5 av 102 avhandlingar innehållade orden Autosomal dominant.

1. 1. Renal and extrarenal signs of autosomal dominant polycystic kidney disease

   Författare :Henrik Hadimeri; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; autosomal dominant polycystic disease; extrarenal manifestations; arterial aneurysms; arterio-venous fistulas; continuous ambulatory peritoneal dialysis; echocardiography;

   Sammanfattning : The aim of the study was to evaluate the clinical impact of renal and extrarenal manifestations of ADPKD (Autosomal Dominant Polycystic Kidney Disease). For this purpose, prospective and retrospective analyses of patients with ADPKD in different populations were performed. LÄS MER

3. 2. Autosomal Dominant Leukodystrophy with Autonomic Symptoms and Rippling Muscle Disease : Translational Studies of Two Neurogenetic Diseases

   Författare :Jimmy Sundblom; Anja Smits; Raili Raininko; Niklas Dahl; Klas Kullander; Åsa Fex-Svenningsen; Marianne de Visser; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Inborn genetic diseases; Leukoencephalopathies; Lamin type B; Muscular disease; Caveolin 3; Neurology; Neurologi;

   Sammanfattning : There is a large variety of diseases caused by single-gene mutations. Although most of these conditions are rare, together they impose a significant burden to the population. LÄS MER

4. 3. Radiological studies of LMNB1-related autosomal dominant leukodystrophy and Marinesco-Sjögren syndrome

   Författare :Johannes Finnsson; Raili Raininko; Eva Kumlien; Isabella Björkman-Burtscher; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Leukoencephalopathies; hereditary central nervous system demyelinating diseases; autonomic dysfunction; adult-onset; neuromuscular disease; pediatric; neuro-ophtalmology; ataxia;

   Sammanfattning : There are approximately 6000 to 8000 rare diseases, each with a prevalence of less than 1 / 10 000, but in aggregate affecting 6 to 8% of the population. It is important to evaluate disease development and progression to know the natural course of any disease. LÄS MER

5. 4. The Role of Fibroblast Growth Factor 23 in Phosphate Homeostasis

   Författare :Tobias Erik Martin Larsson; Kenneth Jonsson; Östen Ljunggren; Suzanne Jan De Beur; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Medicine; Fibroblast Growth Factor 23; FGF-23; phosphate homeostasis; vitamin D metabolism; sodium phosphate cotransporters; autosomal dominant hypophosphatemic rickets; ADHR; X-linked hypophosphatemic rickets; XLH; oncogenic osteomalacia; OOM; PHEX; Medicin; Dermatology and venerology; clinical genetics; internal medicine; Dermatologi och venerologi; klinisk genetik; invärtesmedicin;

   Sammanfattning : The regulation of serum phosphate (Pi) concentrations is a complex process and our current models are far from complete. Due to major advancements in biotechnology and the development of more powerful research tools, recent advances in the field of genetics has led to the identification of several candidates for the long sought-after phosphatonin(s), or Pi regulating hormones. LÄS MER

7. 5. Genetic study of autosomal dominant progressive external ophthalmoplegia and familial myasthenia gravis : linkage analysis, candidate gene cloning and mutation detection

   Författare :Fang-Yuan Li; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Identification of genes responsible for familial human diseases is a major task of medical genetics. In this process, linkage analysis, candidate gene screening and mutation detection are the three major steps (Paper I-VI). LÄS MER