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 168 for “"genetic risk"”.
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Genetic risk factors for carpal tunnel syndrome
… are believed to be associated with increased risk of CTS, the direct causes of this injury remain unknown and it is generally accepted that CTS, with the exception of acutely caused CTS, is a multifactorial condition. Although it is generally accepted that an increase in pressure within the …
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A genetic risk system for genetic counselors
Thesis (S.B. and M.Eng.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 1999.
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Understanding low-penetrance genetic risk for breast cancer
… on the management of patients at increased risk of breast cancer due to a strong family history and/or mutations in rare, high-penetrance breast cancer genes such as BRCA1 and BRCA2. In recent years, GWASs have identified a number of more common low-penetrance susceptibility loci for breast …
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Genetic risk factors for anterior cruciate ligament ruptures
… be associated with ACL ruptures, and then use a genetic association approach following a case-control study design to identify specific sequence variants (single nucleotide polymorphisms, SNPs) within these candidate genes which may predispose individuals to ACL ruptures. Candidate genes (COL1A1, …
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Primary sclerosing cholangitis: from genetic risk to disease biology
Primary sclerosing cholangitis: from genetic risk to disease biology Elizabeth Claire Goode One in 10,000 people in the Western world lives with Primary Sclerosing Cholangitis (PSC), an immune-mediated, inflammatory disease of the bile ducts that is highly co-morbid with inflammatory bowel disease …
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Early life phenotypes of type 1 diabetes genetic risk
… in ~600 children and used to derive high-risk T1D HLA haplotypes and genetic risk scores. Examination of data in the CBGS defined the contributors to physiological growth and set the framework for analyses. My findings concurred with most prior studies on the lack of an effect of the SNP …
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Genetic risk factors for overuse and acute musculoskeletal injuries
… interaction of several intrinsic and extrinsic risk factors. There is a growing body of evidence suggesting that inherited genetic elements may predispose an individual to injury risk and should therefore be considered as important intrinsic risk factors. Previous studies have investigated the …
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Primary biliary cholangitis: genetic risk, phenotypic stratification and disease pathogenesis
… with an inadequate response and an increased risk of liver-related outcomes. As such, PBC remains a major cause of liver related mortality and morbidity. Our current understanding of PBC disease pathogenesis outlines a complex disease which is likely driven by environmental causes in the …
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Etiology of congenital anorectal malformations : genetic and non-genetic risk factors
Contains fulltext : 150170.pdf (Publisher’s version ) (Open Access)
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White matter connectivity, cognition, symptoms and genetic risk factors in Schizophrenia
… potential relationships between them due to the genetic overlap shared among these factors. This work investigates the psychopathology of schizophrenia from a neurobiological, psychological and genetic perspective. The datasets used here include data from the Scottish Family Mental Health (SFMH) …
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Epidemiology and genetic risk factors of suicidal behaviour in South Africa
… need to determine the burden of suicide and risk factors associated with suicide, to understand who is most at risk to inform effective prevention efforts. Despite clear evidence of multiple risk factors, suicidal behaviour remains difficult to predict and prevent. Prevention efforts in South …
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TRANSLATIONAL GENOMICS: THE IMPACT OF GENETIC RISK SCORE ON PATIENTS AND PHYSICIANS
… identified thousands of associations between genetic markers and complex disease risk. When several of these markers are used in combination, the predictive performance is strong; however, the clinical utility of multi-marker tests is not known. This thesis addresses a unifying question: Can …
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Translating autoimmune genetic risk scores into improved prediction and classification of disease
The clinical translation of established genetic risk for type 1 diabetes is hindered by a lack of standardisation and understanding of disease heterogeneity. This thesis aims to address these issues by utilising genetic risk scores (GRS) to enhance type 1 diabetes prediction, differential …
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Heredity in Parkinson's disease. From rare mutations to common genetic risk factors.
This study investigated genetic causes of Parkinson's disease (PD) and parkinsonism in southern Sweden. The extensive Lister Family with parkinsonism caused by duplications and triplications of the gene for alpha-synuclein (SNCA) was studied. Clinical, genetic and genealogical data were compiled …
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A Comprehensive Genetic Risk Model for the Prediction of Future Prostate Cancer
The only established prostate cancer (PCa) risk factors are age, ethnic ancestry and family history. Several PCa genetic susceptibility variants have been identified, including rare moderate-to-high risk pathogenic variants (PVs) and common low-risk variants which jointly explain 40% of the excess …
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Genetic Risk Factors for PTSD: A Gene-Set Analysis of Neurotransmitter Receptors
… pathogenesis of PTSD is not well understood, and genetic mechanisms are particularly elusive. Neurotransmitter systems are thought to contribute to PTSD etiology and are the targets of most pharmacotherapies used to treat PTSD, including the only two FDA approved options and a wide array of …
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Interaction between dietary factors and genetic risk for lipoprotein traits and cardiovascular disease
… quality diet has been associated with a reduced risk of cardiovascular disease (CVD) compared to a low diet quality, and specific “healthy” diet components, such as polyunsaturated fatty acids (PUFAs), have been hypothesized to reduce the risk of CVD. However, results from epidemiological studies …
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Independent and interacting effects of diet and genetic risk on obesity-related comorbidities
… alone does not produce metabolic disease, and genetic variation can increase dyslipidemia risk. Nutrigenetics is a body of research investigating dietary and genetic interactions, but less research exists in non-European populations and individuals with obesity. Our objective was to explore …
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Study of the Phenotypic Characteristics and Genetic Risk Factors of Primary Sclerosing Cholangitis
… leading to biliary cirrhosis, with an increased risk of colorectal and hepato-biliary malignancy. It is commonly associated with inflammatory bowel disease (IBD). Specific medical therapy is ineffective and for patients who develop end-stage liver disease, liver transplantation remains the only …
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Perception of genetic risk in sexual and reproductive decision-making (PGRID) by college students
… by an individual?s perception of his/her genetic risk and other psychosocial variables. There is a paucity of empirical studies within the literature exploring this specific relationship. This partially mixed, sequential mixed methods study addresses how individual perception of genetic …
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