Search for dissertations about: "6q"
Showing result 1 - 5 of 15 swedish dissertations containing the word 6q.
-
1. Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability
Abstract : Intellectual disability (ID) affects approximately 1-3% of the population and is defined as having an IQ below 70 as well as a significant limitation in adaptive behavior.The implementation of chromosomal microarrays (CMA) into the field of clinical genetics has revolutionized the ability to find genetic aberrations responsible for different genetic disorders. READ MORE
-
2. Molecular genetics of lymphoid malignancies
Abstract : Advances in molecular genetics during the last decade has made it possible to identify genetic lesions in malignant cells that are specific for disease entities with a common clinical presentation and prognosis. In chronic lymphocytic leukemia (CLL) deletions in 13ql4 are the most frequently occurring abnormalities and deletions cluster around marker D13S319 suggesting that a tumor suppressor gene is located in this region. READ MORE
-
3. Genetic changes in childhood acute lymphoblastic leukaemia and other lymphoid malignancies
Abstract : Malignant transformation of normal cells is the result of defects in cell growth control, differentiation and programmed cell death. It has been convincingly shown that malignant cells carry mutations in the genes controlling these cellular processes. READ MORE
-
4. Molecular aspects of parathyroid tumorigenesis : with focus on parafibromin and the Wnt pathway
Abstract : Primary hyperparathyroidism (PHPT) denotes the tumorous enlargement of one or several parathyroid glands and constitutes a common disorder, particularly pronounced among postmenopausal women. PHPT patients display hypercalcemia as a consequence of parathyroid hormone hypersecretion, and the symptomatology is habitually based on this metabolic aberrancy. READ MORE
-
5. Molecular and clinical genetic studies of a novel variant of familial hypercalcemia
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
