Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"CHARGE Syndrome"”.
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Epigenetic Regulation of Oligodendrocyte Development and Regeneration in the Central Nervous System
… Chd7 functions in white matter pathogenesis in CHARGE syndrome. To understand the role of lncRNAs in CNS myelination, we establish dynamic expression profiles of lncRNAs at different stages of oligodendrocyte development and uncover a cohort of stage-specific oligodendrocyte-restricted lncRNAs …
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Roles for Chd7 in Zebrafish Development with Implications for Human Disease
… 7 (chd7)</em>, has been implicated in human CHARGE (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) Syndrome and Idiopathic Scoliosis, however little is known about …
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NOVEL INSIGHTS INTO GENETIC AND ENVIRONMENTAL DETERMINANTS SHAPING GNRH NEURON BIOLOGY AND RELATED REPRODUCTIVE DISORDERS
… factors. A major focus of this thesis is CHARGE syndrome (CS), a multisystem disorder clinically overlapping with IGD and primarily caused by heterozygous loss-of-function variants in the CHD7 gene, encoding a chromatin remodeler essential for neural crest and olfactory system development. …