Found 344 clinical trials
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently. This pathway is essential in the regulation of the cell cycle and the determination of cell function. Thus, appropriate function …
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- 19 Feb, 2024
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GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. …
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- 19 Feb, 2024
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MPA AUC Monitoring in Patients Receiving MMF for Diffuse Cutaneous or Pulmonary Involvement in Systemic Sclerosis
To define a target value of AUC MPA to improve the modified Rodnan score and / or respiratory impairment (DLCO or FVC) at one year in patients receiving MMF for the treatment of diffuse cutaneous or interstitial lung damage of systemic sclerosis.
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- 19 Feb, 2024
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Assessment of Salivary GM-CSF, MIP, and IL-1β Levels in Subjects With Varying Periodontal Conditions
In order to determine the pathogenesis of chronic inflammatory diseases, the levels of various cytokines are examined in tissues and fluids taken from the body. In recent publications, the role of Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF), Macrophage Inflammatory Protein (MIP)-1α and Interleukin (IL)-1β on chronic inflammatory diseases has been investigated. …
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- 08 May, 2025