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Dissertations / Theses on the topic 'Genetic risk factor'

Author: Grafiati

Published: 7 July 2024

Last updated: 31 July 2025

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1

Ruth, Katherine Sarah. "Identification of genetic and non-genetic factors contributing to female reproductive ageing." Thesis, University of Exeter, 2015. http://hdl.handle.net/10871/19189.

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The aim of my work was to identify additional genetic and non-genetic factors influencing female reproductive ageing in humans. Although approximately 50% of population variation in age at menopause is due to genetics, less than 3% of variation had been accounted for by common genetic variants. Of non-genetic risk factors, only smoking had consistently been found to have a strong effect on age of menopause. In the wider context of female reproduction, our understanding of the role of genetics in determining sex hormone levels was limited. By combining the results of research in these different

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2

Chen, Hong [Verfasser]. "Plasminogen is a genetic risk factor of periodontitis / Hong Chen." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2018. http://d-nb.info/1196803110/34.

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3

Perdigão, Catarina. "The impact of the genetic risk factor BIN1 to Alzheimer’s disease development." Doctoral thesis, Universidade Nova de Lisboa. Instituto de Tecnologia Quimica e Biológica António Xavier, 2021. http://hdl.handle.net/10362/132008.

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" Alzheimer’s disease (AD) was identified more than a century ago. Yet, there is still no cure and the mechanisms behind the most common form of AD (late-onset, LOAD) are still an open question. BIN1 was the second gene most frequently associated with LOAD. Bin1 depletion has been linked with AD earliest pathomechanisms: increased beta-amyloid (Aβ) accumulation, endosomal abnormalities, and synaptic defects. Sequencing of BIN1 genomic locus identified regulatory and coding variants of BIN1, indicating that Bin1 correct levels and function are essential for a healthy bra

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4

Caglayan, Safak [Verfasser]. "SORLA/SORL1 as genetic risk factor in Alzheimer disease / Safak Caglayan." Berlin : Freie Universität Berlin, 2013. http://d-nb.info/1043480935/34.

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5

Newsome, Jamie. "Resilience and Vulnerability in Adolescents at Risk for Delinquency: A Behavioral Genetic Study of Differential Response to Risk." University of Cincinnati / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1367937532.

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6

Mutize, Tinashe. "DNA methylation : a risk factor for type 2 diabetes mellitus." Thesis, Cape Peninsula University of Technology, 2016. http://hdl.handle.net/20.500.11838/2388.

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Thesis (MSc (Biomedical Technology))--Cape Peninsula University of Technology, 2016.<br>The early detection of individuals who are at risk of developing type 2 diabetes mellitus (T2DM) would decrease the morbidity and mortality associated with this disease. DNA methylation, the most widely studied epigenetic mechanism, offers unique opportunities in this regard. Aberrant DNA methylation is associated with disease pathogenesis and is observed during the asymptomatic stage of disease. DNA methylation has therefore attracted increasing attention as a potential biomarker for identifying individual

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Kirin, Mirna. "Genetic analysis of retinal traits." Thesis, University of Edinburgh, 2014. http://hdl.handle.net/1842/9619.

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Retina is a unique site in the human body where the microcirculation can be imaged directly and non-invasively, allowing us to study in vivo the structure and pathology of the human microcirculation. Retinal images can be quantitatively assessed with computerized imaging techniques, enabling us to measure several different quantitative traits derived from the retinal vasculature. Arterial and venular calibres are the most extensively studied traits of the retinal microvasculature and numerous epidemiological studies demonstrated promising associations with systemic and ocular diseases as well

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Mahlman, M. (Mari). "Genetic background and antenatal risk factors of bronchopulmonary dysplasia." Doctoral thesis, Oulun yliopisto, 2018. http://urn.fi/urn:isbn:9789526219530.

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Abstract Advances over the past few decades in ante- and neonatal care have led to the survival of a growing number of premature infants of extremely low gestational age. However, the occurrence of serious diseases, particularly those affecting the most immature infants, remains high. Bronchopulmonary dysplasia (BPD), a chronic lung disease of premature infants, is one such disease. Our current understanding of the molecular pathogenesis of BPD is incomplete; consequently, there are few preventive and therapeutic options for BPD. Moreover, it is challenging to predict the risk of BPD. Previous

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9

Bayoumy, Nervana M. K. "Genetic analysis of plasma von Willebrand factor antigen levels as a risk factor for arterial and venous thrombosis." Thesis, University of Aberdeen, 2006. http://digitool.abdn.ac.uk/R?func=search-advanced-go&find_code1=WSN&request1=AAIU223247.

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We carried out the first genome-wide linkage analysis in British families for VWF levels. ABO and VWF loci were specifically examined. The results showed that VWF levels are highly heritable 42% ( P>0.000001) with age and C-reactive protein (CRP) the main covariates. The ABO locus was strongly associated with VWF levels ( P=2x10-18), but linkage was modest (LOD = 1.6). VWF gene marker showed no significant association or linkage with phenotype. Genome-wide linkage analysis, conditioned on age and ABO genotypes, revealed regions with potential linkage. Highlighted regions were on chromosomes 2

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10

Polasek, Ozren. "Investigating the role of human genome-wide heterozygosity as a health risk factor." Thesis, University of Edinburgh, 2009. http://hdl.handle.net/1842/4799.

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Aim The aim of this study was to investigate the most commonly used approaches to measure individual genome-wide heterozygosity (IGWH) and to investigate whether IGWH can be considered as a health risk factor or a protective factor in humans. Methods This study was based on two samples from isolated communities of Croatian Adriatic islands, with a total of 1,930 adult examinees from Islands of Vis (N=986) and Korcula (N=944). Examinees were genotyped with a total of 302,662 single nucleotide polymorphisms. Heterozygosity was estimated using five commonly calculated methods. Results Correlation

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11

Bruenig, Dagmar. "Genetic, biomarker and psychological factors for risk and resilience of PTSD." Thesis, Queensland University of Technology, 2017. https://eprints.qut.edu.au/112180/1/Dagmar_Bruenig_Thesis.pdf.

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This thesis systematically investigated molecular risk and protective markers of Posttraumatic Stress Disorder (PTSD). PTSD poses a significant health and societal burden in Australia, especially in at-risk groups such as military personnel. The molecular aetiology of the disorder is poorly understood and it is unclear why many people recover quickly after trauma exposure while others continue to suffer. The thesis significantly contributes to the field of stress and resilience research by identifying novel markers for replication and adding to the knowledge-base of molecular markers for resil

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12

Freund, Christian. "PROGINS-polymorphism in the human progesterone receptor gene: a potential genetic risk factor for prostate cancer?" Ulm : Universität Ulm, Medizinische Fakultät, 2002. http://www.bsz-bw.de/cgi-bin/xvms.cgi?SWB10028616.

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13

Erqou, Sebhat. "Lipoprotein(a) and the risk of vascular disease." Thesis, University of Cambridge, 2010. https://www.repository.cam.ac.uk/handle/1810/225182.

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Background: Lipoprotein(a) [Lp(a)] is composed of a low density-lipoprotein (LDL) particle and a glycoprotein molecule known as apolipoprotein(a) [apo(a)]. Apo(a) exists in several differently-sized isoforms and is responsible for the unique properties of Lp(a). Although Lp(a) has been known for the past 40 years its relationship with coronary heart disease (CHD) has not been characterized in sufficient detail. Whether Lp(a) causes CHD is not clear. Furthermore, the role of apo(a) isoform variation and other sources of Lp(a) heterogeneity (e.g., level of oxidized phospholipids) in Lp(a)-diseas

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Morimoto, Libby Mitsue. "IGF polymorphisms, lifestyle factors, and colorectal cancer risk /." Thesis, Connect to this title online; UW restricted, 2003. http://hdl.handle.net/1773/10955.

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Chismark, Elisabeth A. "C-Reactive protein polymorphism and serum levels as an independent risk factor in sickle cell disease." View the abstract Download the full-text PDF version, 2008. http://etd.utmem.edu/ABSTRACTS/2008-043-Chismark-index.htm.

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Thesis (Ph.D)--University of Tennessee Health Science Center, 2008.<br>Title from title page screen (viewed on January 6, 2009). Research advisor: Ann K. Cashion, Ph.D. Document formatted into pages (x, 102 p. : ill.). Vita. Abstract. Includes bibliographical references (p. 81-88).

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Bongaerts, Brenda Wilhelma Corinna. "Alcohol consumption as a risk factor for colorectal cancer an epidemiological study on genetic susceptibility and molecular endpoints /." Maastricht : Maastricht : Universitaire Pers ; University Library, Universiteit Maastricht [host], 2008. http://arno.unimaas.nl/show.cgi?fid=13362.

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Palles, Claire. "Identification of genetic variants that influence circulating levels of insulin like growth factor 1 and breast cancer risk." Thesis, London School of Hygiene and Tropical Medicine (University of London), 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.536854.

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Freund, Christian [Verfasser]. "PROGINS-polymorphism in the human progesterone receptor gene: a potential genetic risk factor for prostate cancer? / Christian Freund." Ulm : Universität Ulm. Medizinische Fakultät, 2002. http://d-nb.info/1015948650/34.

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19

Mansfield, Michael William. "The interaction of genetic and environmental vascular risk markers in patients with non-insulin-dependent diabetes mellitus and their first degree relatives." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.388894.

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Bourdon, Jessica L. "Translational insights into the genetic etiology of mental health disorders: Examining risk factor models, neuroimaging, and current dissemination practices." VCU Scholars Compass, 2019. https://scholarscompass.vcu.edu/etd/5734.

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Psychiatric genetics is a basic science field that has potential for practical application and effective translation. To date, translational frameworks utilized by this field have been linear (e.g., sequential) in nature, focusing on molecular genetic information. It is proposed that non-linear (e.g., socio-ecological) frameworks are a better way to immediately translate non-molecular genetic information. This dissertation explored the translation of psychiatric genetic information in two ways. First, a survey was sent to academic stakeholders to assess the state of the science regarding the t

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GUMINA, VALENTINA. "TDP-43 AND NOVA-1 RNA BINDING PROTEINS AS SPLICING REGULATORS OF TNIK GENE, A SCHIZOPHRENIA GENETIC RISK FACTOR." Doctoral thesis, Università degli Studi di Milano, 2019. http://hdl.handle.net/2434/610072.

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TDP-43, a RNA-binding protein (RBP) involved in different steps of RNA metabolism, forms pathological aggregates in affected tissues of the majority of amyotrophic lateral sclerosis (ALS) patients and of a subset of frontotemporal dementia (FTLD) cases. Our group has recently demonstrated that TDP-43 regulates the alternative splicing of several pre-mRNAs related to neuronal metabolism, including TNIK, encoding for a Ser/Thr kinase highly expressed in the brain. TDP-43 promotes the skipping of TNIK alternative exon 15, which encodes for a 29-amino-acid sequence in a region of the protein with

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Ingre, Caroline. "On the aetiology of ALS : a comprehensive genetic study." Doctoral thesis, Umeå universitet, Institutionen för farmakologi och klinisk neurovetenskap, 2013. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-67460.

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Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of unknown cause. To date, the principal recognized risk factors for ALS are higher age, male gender, slim figure (BMI<23) and a family history of ALS. In 1993, Rosen et al. observed that some FALS cases were associated with mutations in the gene encoding the CuZn superoxide dismutase enzyme (SOD1). Since then, several mutat

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Siahpush, Seyed Hossein. "Longitudinal study of insulin-like growth factor-I, binding protein-3, and their polymorphisms : risk of neoplastic progression in Barrett's esophagus /." Thesis, Connect to this title online; UW restricted, 2006. http://hdl.handle.net/1773/10870.

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Wong, Jencia. "Age of diagnosis as a factor in the heterogeneity of type 2 diabetes: a clinical and molecular study." Thesis, The University of Sydney, 2009. https://hdl.handle.net/2123/28210.

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The age range at which type 2 diabetes develops has recently expanded. Thus chronological age and age of onset are now important variables in this already heterogeneous disease. The increasing prevalence of early-onset diabetes in particular raises clinical and societal concerns. Such individuals have a longer life-time disease duration and potentially can develop more diabetes related complications, at a relatively young age, perhaps during the most productive periods of their lives. The determinants of, and impact on outcome of age of onset as a clinical variable are unclear. Therefo

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Castelot, Romain. "Etude des mécanismes physiοpathοlοgiques de la maladie d'Alzheimer : appοrt de l'étude des variants du gène SΟRL1". Electronic Thesis or Diss., Normandie, 2024. http://www.theses.fr/2024NORMR078.

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La maladie d'Alzheimer (MA) est la principale cause de démence dans le monde. Elle se caractérise par des dégénérescences neurofibrillaires (DNF) intraneuronales, constituées de filaments de Tau hyperphosphorylés, et des dépôts extracellulaires de peptide amyloïde bêta (Aβ) dans le cerveau des patients. Le gène SORL1, qui code pour la protéine SorLA, est un facteur de risque majeur de la MA. Physiologiquement, SorLA régule la production et la dégradation du peptide Aβ, jouant un rôle crucial dans la modulation des niveaux d’Aβ dans les neurones. Grâce à des modèles cellulaires d’iPSC et de neu

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Wang, Ming-Dong. "Identification of Risk Factors Associated with Aetiology of Amyotrophic Lateral Sclerosis Based on Systematic Review and Meta-Analysis." Thèse, Université d'Ottawa / University of Ottawa, 2014. http://hdl.handle.net/10393/31145.

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To identify the risk factors being associated with aetiology of amyotrophic lateral sclerosis (ALS), a series of systematic reviews based on existing observational epidemiological studies identified through searching of bibliographic databases were conducted. Associations between ALS and a number of genetic and environmental risk factors were examined using meta-analysis. Specifically we found that previous exposure to lead, pesticides, solvents, experience of trauma and electric shock were associated with relative increased risks of developing ALS of 86% [odds ratio (OR) =1.86, 95% CI: 1.39-

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Xu, Ling. "Transcription Factor 7-like 2 (TCF7L2) Gene Polymorphisms in Relation to the Risk of Type 2 Diabetes in three ethnicities." FIU Digital Commons, 2018. https://digitalcommons.fiu.edu/etd/3815.

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Type 2 Diabetes (T2D) disproportionally affects ethnic minorities in the United States. The development of T2D involves complex interaction between environmental factors and genetic predisposition. The genetic associations of six single nucleotide polymorphisms (SNPs) in TCF7L2 gene with the risk of T2D were evaluated in three high risk minority populations: Cuban Americans, Haitian Americans, and African Americans. For Cuban Americans, four SNPs (rs7901695, rs4506565, rs7903146 and rs11225537) were significantly associated with the risk of T2D after multivariable adjustment (p=0.018, p=0.016,

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ORIOLI, Elisa. "GENETIC POLYMORPHISMS OF THE FOLATE METABOLIC PATHWAY IN CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA. A MOLECULAR STUDY AND A PROPOSAL FOR AN INTERPRETATIVE MODEL." Doctoral thesis, Università degli studi di Ferrara, 2014. http://hdl.handle.net/11392/2389047.

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Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer accounting for 80% of childhood leukemia. The uncontrolled proliferation of lymphoid progenitors in the bone marrow and the accumulation of malignant lymphoblasts in peripheral blood characterize the disease. The molecular analysis of common genetic alterations in lymphoblastic cells has strongly contributed to the comprehension of ALL pathogenesis. Different gene polymorphisms (most of them SNPs) play an important role in the susceptibility to childhood ALL which probably derives from a combination and relation of genetic

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Narayanan, Ram. "Genotype and phenotype interactions of the insulin-like growth factor system in type 2 diabetes." Thesis, University of Manchester, 2013. https://www.research.manchester.ac.uk/portal/en/theses/genotype-and-phenotype-interactions-of-the-insulinlike-growth-factor-system-in-type-2-diabetes(5e6925fb-195d-47d8-a06d-8957a8f3b86f).html.

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Background: Multiple lines of evidence implicate the insulin-like growth factor(IGF) group of proteins in human type 2 diabetes. The actions of IGF-I and IGF-IIare modulated through their interaction with IGF binding proteins. A holisticapproach to study the IGF system is preferable to analyses of individual proteininteractions as the inter-relationships between these proteins are complex. Inparticular, the associations of IGF-II and its associated binding proteins withcardiovascular risk have been inadequately studied. This study aimed to study indetail the genotype and phenotype interactions

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Jung, Su Yon, Thomas Rohan, Howard Strickler, et al. "Genetic variants and traits related to insulin-like growth factor-I and insulin resistance and their interaction with lifestyles on postmenopausal colorectal cancer risk." PUBLIC LIBRARY SCIENCE, 2017. http://hdl.handle.net/10150/625969.

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Genetic variants and traits in metabolic signaling pathways may interact with lifestyle factors such as obesity, physical activity, and exogenous estrogen (E), influencing postmenopausal colorectal cancer (CRC) risk, but these interrelated pathways are not fully understood. In this case-cohort study, we examined 33 single-nucleotide polymorphisms (SNPs) in genes related to insulin-like growth factor-I (IGF-I)/insulin resistance (IR) traits and signaling pathways, using data from 704 postmenopausal women in Women's Health Initiative Observation ancillary studies. Stratifying by the lifestyle mo

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Schettert, Isolmar Tadeu. "Avaliação das variantes genéticas funcionais trombogênicas relacionadas ao receptor plaquetário P2Y12 e à metaloprotease ADAMTS13 em pacientes apresentando doença arterial coronariana." Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/5/5131/tde-24062008-145244/.

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Variantes genéticas trombogênicas podem aumentar o risco de eventos adversos em pacientes com coronariopatia crônica. Estudos prévios demonstraram que o Haplótipo H2 do gene do receptor P2Y12 apresenta uma maior agregação plaquetária e está associado com a presença de isquemia arterial periférica. A metaloprotease ADAMTS13 é responsável pela clivagem do fator de von Willebrand e recentemente foi associada com doença isquêmica coronariana. O objetivo deste trabalho foi avaliar o efeito das variantes genéticas funcionais trombogênicas dos Haplótipos H1 e H2 do receptor plaquetário P2Y12 e dos po

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Marzi, Carola [Verfasser], and Thomas [Akademischer Betreuer] Illig. "Is acute-phase serum amyloid a protein a risk factor for type 2 diabetes : epidemiologic perspective including a genetic approach / Carola Marzi. Betreuer: Thomas Illig." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2014. http://d-nb.info/1047762102/34.

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Abelson, Anna-Karin. "Genetic Risk Factors for Systemic Lupus Erythematosus : From Candidate Genes to Functional Variants." Doctoral thesis, Uppsala : Universitetsbiblioteket [distributör], 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9367.

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Beskow, Anna. "Genetic Risk Factors for Cervical Carcinoma in situ." Doctoral thesis, Uppsala universitet, Institutionen för genetik och patologi, 2003. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3318.

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Oncogenic human papillomaviruses (HPVs) are implicated in 99.7 % of cervical cancer cases but require the co-operation of other factors. To investigate potential genetic risk factors we have typed the HLA class II DRB1 and DQB1 loci in 478 women diagnosed with cervical carcinoma in situ and in 608 age-matched controls. Quantitative measurements of HPV 16, HPV 18/45 and HPV 31 were obtained. The DRB1*1501 and DQB1*0602 alleles were found to increase the risk of HPV 16 infection. Carriers of DRB1*1501 and DQB1*0602 were also shown to have an increased risk of a higher viral load compared to non

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Kelempisioti, A. (Anthi). "Genetic risk factors for intervertebral disc degeneration." Doctoral thesis, Oulun yliopisto, 2016. http://urn.fi/urn:isbn:9789526211350.

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Abstract Low back pain (LBP) is the leading cause of years lived with disabilities worldwide. Intervertebral disc (IVD) degeneration is a strong contributing factor to LBP. Recent studies have shown that genetic determinants contribute markedly to IVD degeneration but knowledge about the actual genes involved as well as their roles is still limited. The aim of this thesis work was to study genetic factors that may predispose to IVD degeneration. Using both family and case-control association study designs, variants in five genes showed association with IVD degeneration on magnetic resonance im

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Tilley, Louise. "Genetic risk factors in sporadic Alzheimer's disease." Thesis, University of Nottingham, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.311748.

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Al-Chalabi, Ammar. "Genetic risk factors in amytrophic lateral sclerosis." Thesis, King's College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.321934.

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Burger, Marilize Cornelle. "Genetic risk factors for carpal tunnel syndrome." Doctoral thesis, University of Cape Town, 2014. http://hdl.handle.net/11427/12714.

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Includes bibliographical references.<br>Carpal tunnel syndrome (CTS) is a common occupational injury that is caused by an increase in pressure within the carpal tunnel structure which, in turn, causes compression of the median nerve. Although several factors 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 carpal tunnel structure, which contains nine flex

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Wanby, Pär W. "On certain genetic and metabolic risk factors for carotid stenosis and stroke." Doctoral thesis, Linköpings universitet, Institutionen för medicin och hälsa, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-7467.

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The present study evaluated genetic and metabolic factors influencing the risk of acute cerebrovascular disease (CVD) and internal carotid artery stenosis (ICA stenosis) in a Swedish community. The threonine (T) containing protein of the FABP2 A54T gene polymorphism has a greater affinity for long chain fatty acids (FFAs) than the alanine (A) containing protein. This altered affinity for FFAs has been shown to affect the intestinal absorption of fatty acids and consequently the fatty acid composition of serum lipids, in particularly postprandially. Endothelium derived NO is a potent vasodilato

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Moreno, Mendoza Daniel. "Tumor testicular de células germinales: identificación de nuevos factores de riesgo." Doctoral thesis, Universitat Autònoma de Barcelona, 2020. http://hdl.handle.net/10803/671273.

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La present tesi és una aportació a el coneixement de nous factors de risc per al tumor testicular de cèl·lules germinals (TTCG). El TTCG presenta una etiologia multifactorial, atribuïble a un retard en la diferenciació dels gonocitos fetals. El TTCG és més freqüent en homes amb una espermatogènesi alterada, suggerint una possible etiopatogènia comuna. El cromosoma I conté gens essencials per a una correcta espermatogènesi, les regions de l'factor d'azoospèrmia (AZF). La regió AZF més dinàmica és la regió AZFc que presenta punts fràgils que predisposa a reordenaments. El reordenament parcial mé

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So, Hon-cheong, and 蘇漢昌. "Genetic architecture and risk prediction of complex diseases." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2010. http://hub.hku.hk/bib/B4452805X.

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Beauchamp, Nicholas James. "Molecular genetic basis of inherited thrombophilia." Thesis, University of Sheffield, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.287349.

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Mayosi, B. M. "Genetic determination of cardiovascular risk factors in families." Thesis, University of Oxford, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.249502.

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Maude, Sophia Karen. "An investigation of genetic risk factors for migraine." Thesis, University of Aberdeen, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.248576.

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Migraine manifests itself episodically with incidence ranging from one attack in a lifetime to one almost every day. Most migraineurs suffer from typical migraine with or without aura, that is inherited in a complex manner. A small number of migraineurs suffer from FHM, a condition that exhibits Mendelian inheritance. BFNC is another rare episodic disorder that exhibits Mendelian inheritance. In a four generational family the BFNC phenotype was linked to the KCNQ2 gene on chromosome 20q13.3. Blood samples and epidemiological information were collected from 214 migraine probands in the Grampian

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Posthumus, Michael. "Genetic risk factors for anterior cruciate ligament ruptures." Doctoral thesis, University of Cape Town, 2009. http://hdl.handle.net/11427/3195.

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Includes abstract.<br>Includes bibliographical references (p. 197-215).<br>The primary aim of this thesis was to identify candidate genes that may 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, COL5A1 and COL12A1) were selected based on the biological function of their encoded proteins (type I, type V and type XII collagen respectively) within the

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Hughes, Katherine Carlson. "Dietary and Genetic Risk Factors for Parkinson's Disease." Thesis, Harvard University, 2016. http://nrs.harvard.edu/urn-3:HUL.InstRepos:27201728.

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Parkinson’s disease (PD) is the second most common neurodegenerative disease. Motor symptoms typically do not manifest until significant neuronal loss has already occurred, highlighting the need for early detection and prevention. In this dissertation, we sought to improve our understanding of PD epidemiology by studying associations between potential modifiable risk factors, including antioxidant vitamins, dairy products, and urate, and PD risk. We conducted prospective analyses within three large cohort studies: the Nurses’ Health Study, the Health Professionals Follow-up Study, and the Canc

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Ylönen, S. (Susanna). "Genetic risk factors for movement disorders in Finland." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526223988.

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Abstract Parkinson’s disease and Huntington’s disease are progressive neurodegenerative movement disorders that typically manifest in adulthood. In this study, genetic risk factors contributing to these two movement disorders were investigated in Finnish patients. Patients with early-onset or late-onset Parkinson’s disease as well as population controls were examined. The p.L444P mutation in GBA was found to contribute to the risk of Parkinson’s disease. POLG1 compound heterozygous mutations were detected in two patients with Parkinson’s disease and rare length variants in POLG1 were associate

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Varghese, Jajini Susan. "Genetic and life-style determinants of mammographic density." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610197.

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Vossen, Carolina Y. "Genetic risk factors for venous thrombosis : key players or minor risk modifiers ? /." [S.l. : s.n], 2005. http://catalogue.bnf.fr/ark:/12148/cb402235083.

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Ødegård, Rønnaug A. "Preeclampsia - maternal risk factors and fetal growth." Doctoral thesis, Norwegian University of Science and Technology, Department of Cancer Research and Molecular Medicine, 2002. http://urn.kb.se/resolve?urn=urn:nbn:no:ntnu:diva-484.

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<p>Preeclampsia is a complex and variable maternal disturbance that ranges from a dramatic onset at early gestation to slowly developing symptoms towards term. Hypertension and renal involvement with proteinuria are cardinal signs, which are often accompanied by fluid retention, blood-clotting dysfunction, and reduced organ perfusion. HELLP (haemolysis, elevated liver enzymes, and low platelet count) syndrome is regarded as a variant of preeclampsia, and the fulminante disease, eclampsia, includes convulsions. Preeclampsia is the main cause of maternal and fetal morbidity and mortality in wes

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