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 14 of 14 for “"neurogenetic"”.
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Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions
<p>Identifying genetic diagnoses for neurological conditions with a considerable hereditary component, such as autism spectrum disorder (ASD), intellectual disability, and epilepsy, is critical to providing proper medical management for these patients and their families. However, many patients with …
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Project Khushi: collaboration to create and implement occupational therapy cooking program into Gigi’s Playhouse Down syndrome Achievement Centers
… live births (Xanthopoulous et al. 2017). It is a neurogenetic disorder that is affecting growth, development and social participation through a lifespan. It is caused by the presence of a full third copy of chromosome 21 or part of it (Macak & Memisevic, 2008). It is this intention of this …
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RNA-based therapeutic approaches for FTDP-17
… modulate such splice defects in the context of neurogenetic diseases and possible applications of available tools for FTDP-17. CHAPTER 2 explores an exon skipping strategy to modulate splice defects in the context of FTD-17 using small nuclear RNAs (snRNAs). CHAPTER 3 is based on a short …
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Semantic and pragmatic language development in typical acquisition, autism spectrum disorders, and Williams syndrome with reference to developmental neurogenetics of the latter
… and hence are also semantic in nature. The mouse neurogenetic part of this dissertation investigates whether the GTF2I family of genes, causal to WS behavioral phenotype, also contributes to WS cortical development.
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The identification of candidate genes using cDNA microarray and the analysis of two SNPs of the reelin gene in a South African austistic population
… could contribute to the aetiology of several neurogenetic diseases such as schizophrenia, bipolar and autism. The aims of the study were (i) to genotype two SNPs (exonic rs3622691 and intronic rs736707) in the RELN gene using Taqman® SNP Genotyping assays to detect association with autism in …
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Predicting Disease Progression Using Deep Recurrent Neural Networks and Longitudinal Electronic Health Record Data
… Type 1 (NF1), which is one of the most common neurogenetic disorders and occurs in 1 of every 3,000 births, without predilection for race, sex, or ethnicity. The prediction pipeline is differentiable from other efforts to-date that have sought to model NF1 progression in that it involves the …
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Head and protocerebral patterning in the spider Parasteatoda tepidariorum
… The arthropod protocerebrum is derived from the neurogenetic ectoderm of the pre-antennal/cheliceral region. It gives rise to centres or neuropils, which in insects are essential for spatial orientation and object recognition (central complex) and olfactory learning and memory (mushroom …
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Regulation of PIEZO Channels by Membrane Lipids
… PIEZO2-associated behaviors in mouse models of neurogenetic diseases where PIEZO2 function is either up- (distal arthrogryposis type 5) or down- (Angelman syndrome) regulated. Finally, we demonstrate that PIEZO1 function is upregulated in sickle cell disease, and that fatty acids can be used to …
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Genetic and Environmental Factors Related to Child and Parent Mental Health in the Context of Intellectual Disabilities
… and a smaller group of CYP with rare neurogenetic disorders (RGDs) during the COVID-19 pandemic (CoIN). Within both cohorts, I investigated mental health in CYP with ID/RGDs and their parents/carers, as they both face elevated mental health risks and can be an important source of …
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Molecular and Cellular Investigations of Prader-Willi Syndrome
… here provide a pipeline for investigating other neurogenetic disorders and how the data discussed in each of these chapters connects to possible defects caused by the spectrum of PWS genetic changes.</p>
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Investigation into the Neurogenetics of Vocal Learning in Tursiops Truncatus, the Bottlenose Dolphin
… this behavior remains unknown. By studying the neurogenetics of vocal learning in intelligent mammals, we can gain a deeper understanding of the evolution of spoken language. As a first step in investigating the neurogenetic underpinnings of cetacean vocal learning, we generated a …
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Dopaminergic Genetic Contributions to Obesity in Kidney Transplant Recipients
… substance addiction. Recently, neuroimaging and neurogenetic data have shown that dopamine may also play a role in obesity. Both dopamine receptor genes and genes related to overall dopamine activity have been associated with obesity, weight gain, and food addiction. Gene expression studies in …
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Common Pathophysiological Features of Charcot-Marie-Tooth Disease
Hereditary peripheral neuropathy, also known as Charcot-Marie-Tooth disease (CMT) and related disorders, are a group of genetic disorders causing length-dependant neuropathy, resulting in motor and/or sensory loss progressing from the lower extremities toward the spine. With a population prevalence …