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 20 of 42 for “"structural abnormalities"”.
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Exploring The Potential Yield of Prenatal Testing By Evaluating A Postnatal Population With Structural Abnormalities
<p>After identification of one or more structural abnormalities in a fetus, pregnant women are offered a host of different testing options to identify a possible genetic cause for the structural abnormality(ies). When considering what type of test to undertake, there is limited information on the …
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Identification and Application of Novel Therapeutic Targets for PRPH2-Associated Disorders
… therapeutic strategies by targeting OS structural abnormalities associated with Prph2 mutations as well as investigating disruptions in the metabolic symbiosis between the retina and RPE. In attempts to ameliorate OS structural abnormalities, we investigated reducing rhodopsin (RHO) …
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The role of biofeedback in improving anal continence after anterior resection
… and evaluates methods for measuring the structural and functional abnormalities associated with it. Symptom-score and quality of life questionnaires, anorectal physiology and proctography are frequently used to evaluate pelvic floor patients but are also relevant to assess anterior …
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Speech Network Regional Differences in Bulbar Amyotrophic Lateral Sclerosis: Neuroimaging and Neuropathology Investigations
… clinical trials. The first study characterized structural abnormalities in the SpN regions with relation to bulbar motor dysfunction using T1 and DTI neuroimaging in 16 patients with bulbar ALS. The results revealed left-lateralized differences in extramotor SpN regions with thinning in left …
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An exploration of the molecular mechanisms underlying the effects of hyperglycaemia on the autorrhythmicity of cardiac-like stem cells
… serious cardiovascular complications. Although structural abnormalities such as congenital heart defects and hypertrophic cardiomyopathy are by far the most common sequelae in these infants, it is becoming increasingly apparent that a vulnerability towards malignant dysrhythmias is far more …
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Noninvasive Multi-Modality Studies of Cardiac Electrophysiology, Mechanics, and Anatomical Substrate in Healthy Adults, Arrhythmogenic Cardiomyopathy, and Heart Failure
… costs. Many forms of heart disease are caused by abnormalities in the electrical function of heart muscle cells or the cardiac conduction system. Electrocardiographic Imaging (ECGI) is a noninvasive modality for imaging cardiac electrophysiology. By combining recordings of the voltage distribution …
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Imaging genetics evidence for the neurodevelopmental model of schizophrenia
… the complex genetic relationship between brain structural phenotypes and schizophrenia. Chapter 1 reviews current imaging and genetic evidence for the neurodevelopmental model of schizophrenia. The neurodevelopmental model of schizophrenia posits that genetic variation and interactions with …
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The Role of Pkd1 in Mouse Inner Ear Hair Cells
… channel function despite hearing loss and ultra-structural abnormalities of stereocilia that remain properly polarized at adult ages. These findings indicate that PC-1 plays an essential role in stereocilia structure and maintenance, but not directly in MET channel function and planar cell …
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The Effects of PTEN Deletion on Cell Size and Plasticity in the Hippocampus
… synaptic transmission and plasticity. Neurologic abnormalities such as autism, seizures, and ataxia are associated with inherited PTEN mutations. Yet, how PTEN loss contributes to neurologic dysfunction remains unknown. PTEN loss during early development is associated with extensive deficits in …
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An analysis of the morphological and biological properties of a novel human leukocyte- and platelet- rich concentrate
… tissue formation that has impaired function or structural abnormalities. As a result, clinicians have sought ways to enhance this process. Recently, the use of autologous platelet concentrates have become popular in the management of wound healing sites. However, controversy exists as to how …
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3 Tesla Magnetic Resonance Imaging of Hippocampal Asymmetry: Results from the Dallas Heart Study
… imaging error, self-reported stroke, or major structural abnormalities were excluded. Statistical analyses were performed to determine significance of the findings across age, sex, and ethnicity. RESULTS: At the 90th percentile FSL-FIRST demonstrated hippocampal asymmetry of 9.8% (95% CI 9.3 to …
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Κυτταρογενετική μελέτη των κακοηθών λεμφωμάτων της παιδικής ηλικίας
… disease. 13 patients showed chromosomal abnormalities and three patients had normal karyotype. In these 13 patients, 16 structural atypias were identified. From these, 9 were chromosomal translocations, from which three were translocation t(14;18) (q32;q21), one t(8;14) (q24;q32), one …
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A Structural Approach to Unveil the Role of BRCA1 in the Context of Transcription
… atomic models. Overall we were able to determine structural abnormalities that occur when a mutation is present in BRCA1 that may have future applications for targetable therapy in TNBC patients. Moreover, by using TNBC as the disease model, we have created a platform that can be used to evaluate …
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Brain Connectivity in Autism Spectrum Disorder
… morphometry studies investigating white matter abnormalities in ASD. This analysis showed that patients with ASD display abnormalities in long white matter association tracts, such as the arcuate and uncinate fasciculus, known to be important for language and social cognition.<br/>A second step …
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Cigarette Smoke Exposure in Drosophila Reveals Wnt-Mediated Remodeling of Airway Structure and Systemic Physiology
… fat accumulation, and caused pronounced structural abnormalities in the tracheal system. In summary, this study demonstrates that airway resilience to cigarette smoke is governed by the balance between protective canonical Wnt/β-catenin signaling and detrimental overactivation of …
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Cardiovascular magnetic resonance and right ventricular angiography in assessment of right ventricular volumes, function and wall motion abnormalities in arrhythmogenic right ventricular cardiomyopathy: a comparative study
… is an inherited cardiomyopathy characterised by structural changes to mostly the right ventricle (RV) that predisposes to ventricular arrhythmias heart failure and sudden cardiac death. ARVC is diagnosed using the 2010 Task Force Criteria which include RV angiography (RVA) and cardiovascular …
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Machine Learning Techniques for Augmenting Hematological Malignancy Diagnosis
… screening for clinically informative recurring structural chromosomal abnormalities and serving as a clinical decision support system for clinical MFC data analysis. Most of the data used for this work are from patients with acute myeloid leukemia, but these ML algorithms can easily be extended …
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Isolated, Absent Cavum Septum Pellucidum: A Single Center’S Outcomes and Review of The Literature
… limited. Our study aims to describe ultrasound abnormalities associated with an absent CSP and the postnatal outcomes of an isolated, absent CSP. Additionally, we explore the accuracy of prenatal ultrasounds in evaluating for an absent CSP. This is a retrospective study of all cases diagnosed …
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