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 33 for “"Clinical genetics"”.
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Next-generation phenotyping in neurodevelopmental disorders: Applications of artificial intelligence in clinical genetics
Contains fulltext : 306760.pdf (Publisher’s version ) (Open Access)
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Identifying the benefits and disbenefits of clinical genetics services: a framework for economic evaluation
… discussed in the area of economic evaluation of Clinical Genetic Services (CGSs) including the limited knowledge of psychosocial consequences of these services. This study aims to address this gap by identifying tangible and intangible benefits and disbenefits of CGSs and presenting these within …
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Assessing the effectiveness of current UK guidelines on familial colorectal cancer risk
… (CRC) is a frequent reason for referral to Clinical Genetics in the UK. The British Society of Gastroenterologists (BSG) guideline stratifies patients to risk categories (low/population, low-moderate, high-moderate and high) according to FH. Individuals with Lynch syndrome are classified …
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Assessing risk of familial breast cancer: effectiveness of current UK guidelines
… risk is a common indication for referral to clinical genetics. National Institute of Health and Care Excellence (NICE) guidelines use family history to stratify patients by 10-year risk of breast cancer from the ages 40-49. Patients are divided into low (10-year risk <3%), moderate (3-8%) and …
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TNFRSF13B Genetic variability an anthropological - evolutionary approach to Biomedical Research
… coding variants have been implicated by clinical genetics studies in Common Variable Immunodeficiency (CVID), the most common clinically relevant primary immunodeficiency in individuals of European ancestry, but their functional effects in relation to the development of the disease have …
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Ancestry Informative Markers Tailored to Hispanic Populations
… application of allele frequencies to forensic genetics, genealogy, and clinical genetics are discussed as well as future directions and ethical considerations.
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The Contextual Roles of Isocitrate Dehydrogenase-1 and Isocitrate Dehydrogenase-2 in Electron Transport Chain Complex III Deficiency
… in translational research, because individual clinical cases can stimulate insights that lead to a deeper understanding of human metabolism and sometimes inform personalized patient care. Our clinical genetics team identified a female patient who presented at age 3 with recurrent episodes of …
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Perspectives and Experiences of Individuals Undergoing Predictive Testing for Hereditary Breast and Ovarian Cancer (HBOC) Syndrome in the Western Cape, South Africa.
… retrospectively from the breast cancer and/or clinical genetics clinics at Groote Schuur Hospital, Tygerberg Hospital and private genetic counselling practices in Cape Town. Semi structured interviews were conducted, and the interview transcripts were analysed using the framework approach for …
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Molecular and functional studies of ABL1 and FGFR1 fusion oncogenes in myeloproliferative neoplasms
The tyrosine kinase encoding genes ABL1 and FGFR1 are involved in fusion genes underlying the myeloproliferative neoplasms chronic myeloid leukemia (CML) and the 8p11-myeloproliferative syndrome (EMS). CML and EMS are both myeloproliferative disorders with an initiating, relatively indolent, …
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Mechanisms and Consequences of Chromosomal Instability in Malignant tumours
In this thesis, telomere deficiency with subsequent anaphase bridging was found to be associated with chromosomal instability in established colorectal cancer cell lines and in Wilms tumour. In colorectal cancer cell lines, anaphase bridging was observed to generate both numerical and structural …
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Matryoshka genetics: identification of disease-associated mutations in the human genome
… the human genome, specifically in the context of clinical medicine. It is principally a publication-based thesis, with each of the chapters focusing on the use of a specific molecular technique or combination of techniques to address a particular clinical question, or clinical need. Indeed …
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Elucidating the constitutional genetic basis of multiple primary tumours
… to mitigate the associated risks with clinical intervention. They are caused by constitutional genetic variation affecting tumour suppressor genes or proto-oncogenes and recent improvements in sequencing technology have led to greater capability to detect more affected individuals …
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Parents' perspectives and experiences of having a child with hereditary hearing loss
… the understanding and comprehension of genetics concepts is unknown in this population and needs to be explored before appropriate genetic counselling may be provided to parents of children with hereditary HL. Therefore, the aim of this research was to examine the perspectives, …
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The Rationale, Design and Implementation of the African Cardiomyopathy and Myocarditis Registry
… cohort study. It aims to describe the clinical characteristics, aetiology, genetics, management and outcome of cardiomyopathies in children and adults. Index patients were recruited as either incident (new) or prevalent (existing) cases, and family screening was conducted in selected …
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Understanding the Aetiology of Metabolic Diseases and Related Phenotypes through Human Genetics
A key objective in human genetics is to elucidate how inherited genetic variations contribute to the phenotypic variations and disease susceptibility in the population. Whole-exome sequencing (WES) is a pivotal approach for uncovering gene-disease associations by analysing rare variants that can …
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MOLECULAR PROFILING OF UROTHELIAL CARCINOMA
The general aim of this thesis was to molecularly characterize urothelial carcinoma (UC) at the transcriptional level using gene expression microarrays to improve the classification and pathogenetic understanding of this disease. In the first two studies (Articles I and II), gene expression …
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Identification, Validation and Implementation of Blastemal Biomarkers in Wilms Tumour
… protein staining, to prepare it for clinical use. The two proteins found to have the most specific expression in blastemal cells were SIX1 and CITED1. These proteins are transcription factors expressed during kidney development and both were shown to be highly expressed in the …
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EWSR1 and FUS fusion genes in tumorigenesis
The present thesis concerns the involvement of EWSR1 and FUS fusion genes, and the chimeric proteins they encode, in tumorigenesis. In Article I, the EWSR1 promoter, which regulates the expression of EWSR1 fusion genes, was characterized and regions that were crucial for promoter activity could be …
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The clinical value of genetic analyses of bone and soft tissue tumors
… taken into account when selecting method(s) for clinical, diagnostic purposes. None of the techniques used in the present studies is sufficient for detecting all clinically relevant genetic aberrations in bone and soft tissue tumors.
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Genetic Characterization of Pediatric T-cell Acute Lymphoblastic Leukemia
… by mutations (Article IV). In Article III, clinical characteristics and cytogenetic aberrations were ascertained and reviewed in a large, population-based Nordic series of 285 pediatric T-ALLs. Survival analyses revealed a correlation between rare TCR translocations and inferior outcome, an …
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