Search for dissertations about: "autosomal inheritance"

Showing result 1 - 5 of 30 swedish dissertations containing the words autosomal inheritance.

2. 1. Molecular and clinical genetic studies of a novel variant of familial hypercalcemia

   Author : Eva Szabo; Jan Zedenius; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Surgery; hyperparathyroidism; calcium receptor; hypercalcemia; allelic loss; autosomal inheritance; Kirurgi; Surgery; Kirurgi; Kirurgi; Surgery;

   Abstract : Familial primary hyperparathyroidism (HPT) is a rare disorder that is treated surgically and mostly occurs in association with tumor-susceptibility syndromes, like multiple endocrine neoplasia and the hyperparathyroidism-jaw tumor syndrome. Familial hypercalciuric hypercalcemia (FHH) is another cause of hereditary hypercalcemia that generally is considered to require no treatment and is genetically and pathophysiologically distinct from HPT. READ MORE

4. 2. Amelogenesis imperfecta : an epidemiologic, genetic, morphologic and clinical study

   Author : Birgitta Bäckman; Umeå universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; amelogenesis imperfecta; enamel defect; epidemiology; genetics; microradiography; scanning electron microscopy;

   Abstract : Amelogenesis imperfecta (AI) is a genetically determined enamel defect characterized by genetic and clinical heterogeneity .The prevalence and incidence of AI were established in the county of Västerbotten, northern Sweden, in 3-19-yr-olds born 1963-79, as were the mode of inheritance and clinical manifestation of AI. READ MORE

5. 3. Molecular investigations on chromosome 21 in relation to Down syndrome and familial congenital hypothyroidism

   Author : Bodil Edman Ahlbom; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Abstract : Chromosomal abnormalities as well as mutations in single genes are genetic changes that can cause syndromes or inherited diseases. Down syndrome (DS), usually a consequence of trisomy 21, is a gene dosage disorder caused by an extra copy of genes on chromosome 21, but the mechanisms whereby specific genes contribute to the clinical features of DS are not known. READ MORE

6. 4. Hereditary ichthyosis : Causes, Skin Manifestations, Treatments and Quality of Life

   Author : Agneta Gånemo; Åke Svensson; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Dermatology and venereology; Ichthyosis; congenital ichthyosis; genodermatoses; skin disease; quality of life; topical treatment; lactic acid; propylene glycol; Dermatologi och venerologi; Dermatology and venerology; Dermatologi och venerologi; Dermatology and Venerology; dermatologi och venereologi;

   Abstract : Hereditary ichthyosis is a collective name for many dry and scaly skin disorders ranging in frequency from common to very rare. The main groups are autosomal recessive lamellar ichthyosis, autosomal dominant epidermolytic hyperkeratosis and ichthyosis vulgaris, and x-linked recessive ichthyosis. READ MORE

7. 5. Multiomics strategy in clinical immunology aiding unsolved antibody deficiencies

   Author : Hassan Abolhassani; Karolinska Institutet; Karolinska Institutet; []
   Keywords : ;

   Abstract : Clinical and immunological phenotyping of a cohort of consecutive dysgammaglobulinemic patients with unknown genetic defects underwent genomic (e.g. whole-exome sequencing) and other relative multiomics (e.g. READ MORE