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 7 of 7 for “"Prader-Willi Syndrome"”.
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Molecular and Cellular Investigations of Prader-Willi Syndrome
<p>Prader-Willi syndrome (PWS) is a complex multigenic neurodevelopmental disorder resulting in hypotonia, developmental delay, hypogonadism, sleep dysfunction and childhood onset obesity affecting 1 in 10,000 to 30,000 individuals. PWS is an imprinting disorder that is caused by a loss of …
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Investigating psychosis in Prader-Willi syndrome: developing cognitive, electrophysiological and neuroimaging approaches
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder resulting from the absent expression of maternally imprinted, paternally expressed genes located in the chromosomal region 15q11-13. This absence of expression is usually either due to a paternal deletion or maternal uniparental disomy …
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Non-coding RNA genes lost in Prader-Willi Syndrome stabilize target RNAs
Prader-Willi Syndrome (PWS) is a genetic disease that results in abnormal hormone levels, developmental delay, intellectual disability, hypogonadism, and excessive appetite. The disease is caused by a de novo genetic deletion in chromosome 15. While many of the deleted genes have been identified, …
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The Relationship Between Caring For Individuals Diagnosed With Prader-Willi Syndrome And Caregiver Stress
… characteristics of individuals diagnosed with Prader-Will syndrome (PWS): hyperphagia and explosive behaviors. Other variables being explored relate to variables not directly to the individual being cared for: coping strategies of the caregiver, perceived social supports, and …
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Breakage in the SNRPN locus in a balanced translocation patient with Prader-Willi syndrome
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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The Mechanism of Obesity in Rai1+/- Mice
Smith-Magenis syndrome (SMS) is a genetic disorder caused by a deletion or mutation of the retinoic acid induced 1 (RAI1) gene on chromosome 17p11.2 that results in haploinsufficiency. SMS patients with a deletion account for 90% of the cases, while the other 10% have a mutation in RAI1. The …
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Integrating the Rare Disease Context into Medical Training Models
Patient centred care (PCC) and evidence-based medicine (EBM) are cornerstones in the education of primary care providers. While teaching these approaches are intended to improve patient care, EBM and PCC were not developed with rare disease (RD) in mind, and therefore the tenets of those models may …