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Showing 1 to 16 of 16 for “"genetic aetiology"”.
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Elucidating the genetic aetiology of Bipolar Disorder
… is a debilitating mood disorder with substantial genetic contributions. However, while the existence of its heritability is well-established, the precise genetic components and mechanisms of BD remain unknown. This is a pilot study aimed at optimising the use of small-scale next generation …
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The Genetic Aetiology of Ectopic Maxillary Canine Teeth
… appearing in 1-2% of the Western population The aetiology is controversial with opinion divided as to a genetic or environmental mechanism. This study addresses the hypothesis that genetic factors play an important role in the aetiology of ectopic maxillary canines. Elucidation of the extent of …
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Statistical Techniques to Fine Map the Related Genetic Aetiology of Autoimmune Diseases
… Association Studies (GWAS) have uncovered many genetic regions which are associated with autoimmune disease risk. In this thesis, I present methods which I have developed to build upon these studies and enable the analysis of the causal variants of these diseases. Colocalization methods …
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Genetic aetiology of autosomal recessive non-syndromic hearing loss in sub-Saharan African patients: evaluation using targeted and whole exome sequencing
… The causes of HL can either be environmental or genetic with each contributing about 50% towards all cases, in many settings. In developing countries, the environment might contribute more due to poor health services and infrastructure available to the population. In the absence of environmental …
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MOLECULAR DISSECTION OF CARDIOMYOPATHY
… are inherited cardiac conditions with marked genetic heterogeneity. The genetic aetiology of HCM and DCM in Singapore and European was broadly similar but Singapore Chinese HCM patients frequently have fewer clinically actionable disease variants, overall. Two common lowly penetrant risk …
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Parents' perspectives and experiences of having a child with hereditary hearing loss
… Africa, 6 in 1000 newborns, have disabling HL. Genetic aetiology accounts for half of the cases of prelingual HL and of these 70% are nonsyndromic. There is ongoing research into the genetic basis of HL in the South African setting as at present, genetic testing for HL is largely uninformative …
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Alternative expression forms of the bovine αₛ₁-casein gene
… current investigation initially focused on the genetic aetiology of variant A animals in an New Zealand herd; it was found that a single base (adenine) deletion, which is different from the previously reported mutation in the αₛ₁-casein gene, occurs at position +4 of the intron 4 splice donor …
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ASMT gene polymorphisms are associated with Autism Spectrum Disorder (ASD) symptom severity in a South African population
… and social impairments. ASD shows evidence of a genetic aetiology, with a large body of research linking ASD to polymorphisms in several different genes and gene families, including those involved in circadian rhythm generation and melatonin biosynthesis. Sleep disorders are highly comorbid with …
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Delineation of the genetic causes of complex epilepsies in South African pediatric patients
… worldwide. A proportion is presumed to be genetic, but this aetiology is buried under the burden of infections and perinatal insults, in a setting of limited awareness and few options for testing. Children with developmental and epileptic encephalopathies (DEEs), are most severely affected …
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Common variants in antibody deficiencies
… charac- terised by immune dysfunction of genetic origin. Many of these disorders represent canoni- cal examples of Mendelian disease and study of their genetic aetiology is largely conducted within a rare-variant, monogenic paradigm. However, most cases of the two most common IEIs, …
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Statistical methods to improve understanding of the genetic basis of complex diseases
… methods, utilising the vast amounts of genetic data that is now available, are required to resolve the genetic aetiology of complex human diseases including immune-mediated diseases. Essential to this process is firstly the use of genome-wide association studies (GWAS) to identify …
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Genetic diversity and population structure within Botswana: association with HIV-1 infection
… is attributable to, among other factors, host genetic variation. Characterisation of human genetic variations can contribute towards understanding the genetic aetiology of HIV-1 and foster development of novel preventive and treatment strategies against HIV-1. Despite the high burden of HIV-1 …
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Genetic Diagnostic Study among Pediatric Patients with Hereditary Pathology Who Received Genetic Counselling // Генетико-диагностично проучване при лица в детска възраст с наследствена патология, преминали през кабинета за генетично консултиране
Наследствените заболявания и вродените аномалии са свързани със сериозни неблагоприятни последици за педиатричните пациенти, техните семейства, здравните системи и обществото. Кабинетът за медико-генетична консултация има съществено значение в мултидисциплинарния процес по разкриване генетичната …
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Early Life Determinants of Metabolic and Reproductive Health
… on growth and development, the role of genetics has become gradually more apparent in recent years. This has been aided by the availability of increasingly large data resources. Genetic studies have shown that many developmental traits are highly heritable and share genetic determinants …
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Genetic analysis of bipolar disorder and alcohol use disorder
… a relatively high heritability, yet the exact genetic basis of each remains unknown. Genetic variants within the hypothalamic-pituitary-adrenal (HPA)-axis and glutamatergic pathways have previously been implicated in both phenotypes. The aim of this project was to investigate the aetiology of …
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Identifying Genes and Novel Variants Involved in Nonsyndromic Hearing Impairment, and Assessment of the Psychosocial Burden of Hearing Impairment in Cameroon
… Africa (SSA). HI can be due to environmental or genetic causes, and in many cases, it is not possible to establish a definite aetiology. Hereditary HI contributes to 30% to 50% of HI cases in SSA. Hereditary HI can be syndromic or non-syndromic, depending on whether it is associated with …