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 99 for “"genotype phenotype"”.
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Familial adenomatous polyposis: a genotype - phenotype correlation
This document only includes an excerpt of the corresponding thesis or dissertation. To request a digital scan of the full text, please contact the Ruth Lilly Medical Library's Interlibrary Loan Department (rlmlill@iu.edu).
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Mechanistic Investigation of Genotype-Phenotype Correlations in PIK3R1-Related Diseases
… whereby PIK3R1 mutations cause diverse disease phenotypes observed in SHORT syndrome (defined by Short stature, Hyperextensibility, Ocular depression, Rieger anomaly and Teething delay), the primary immunodeficiency Activated PI3K-$\delta$ Syndrome 2 (APDS2), and cancer. Initial studies of …
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Structural Properties of Genotype-Phenotype Maps: Models, Estimates and Evolution
Genotype-phenotype (GP) maps play a crucial role in evolution, as they set up a connection between the space of genotypes, on which mutations take place, and the space of phenotypes, which is affected by selection. This thesis studies a range of questions surrounding the structural properties of GP …
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Genetic Background and Genotype-Phenotype Correlations in Palmoplantar Epidermal Differentiation Disorders
… remains unresolved in a subset of patients, and genotype-phenotype relationships are not yet fully defined. The aim of this thesis was to elucidate the genetic background and genotype-phenotype correlations in pEDDs through detailed clinical and molecular characterization of patients with …
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Determining The Genotype-Phenotype Connection In Synthetic Inducible Gene Expression Systems
… expression is an important process whereby the genotype controls an individual cell’s phenotype. However, even genetically identical cells display a variety of phenotypes, which may be attributed to differences in their environment. Yet, even after controlling for these two factors, individual …
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Decoding Treatment Resistance and Genotype-Phenotype Interactions at Single Cell Resolution
… immune cells acquired higher tumor-reactivate phenotypes. We also found a large expansion of myeloid cells with different infiltration frequencies between the good-responders and non-responders during and after CRT. Furthermore, we identified four TME ecotypes and four cancer expression …
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Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations
… and their associated phenotypic heterogeneity, a genotype-phenotype model has been proposed based on the amount of ABCA4 protein activity. Research in the Division of Human Genetics at the University of Cape Town (UCT) has suggested possible ABCA4 founder mutations underlying STGD in the South …
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VON WILLEBRAND DISEASE: NEW INSIGHTS INTO THE EPIDEMIOLOGY, PATHOPHYSIOLOGY AND GENOTYPE/PHENOTYPE CORRELATION
La malattia di von Willebrand (VWD) è il disturbo emorragico congenito più comune ed è dovuta a difetti quantitativi (VWD di tipo 1 e di tipo 3) o qualitativi (VWD di tipo 2) della glicoproteina fattore di von Willebrand (VWF). Questa tesi mirava a fornire nuove informazioni sull'epidemiologia, …
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Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders (Gabow, 1993), with an estimated prevalence of 1 in 400 to 1 in 1000 (Dalgaard, 1957; Gabow, 1993). The disease is the fourth leading cause of renal failure with more than 10 million people affected …
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SYNDROMIC HIDRADENITIS SUPPURATIVA: GENOTYPE-PHENOTYPE CORRELATION THROUGH WHOLE-EXOME SEQUENCING IN 10 UNRELATED PATIENTS
… of whom was present in a patient with a mixed phenotype characterized by gut and joint inflammation. Limitations: Limited number of patients that can be counterbalanced by the rarity of syndromic HS. Conclusion: Syndromic HS can be considered as a polygenic autoinflammatory condition; currently …
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Hereditary hearing impairment in the Netherlands. Diagnostics, genotype-phenotype correlationsand identification of novel deafness genes
Contains fulltext : 178906.pdf (Publisher’s version ) (Open Access)
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Genotype-Phenotype Correlation in Patients with Cystic Fibrosis // Генотип-фенотип корелация при пациенти с кистозна фиброза
Genotype-Phenotype Correlation in Patients with Cystic Fibrosis // Генотип-фенотип корелация при пациенти с кистозна фиброза Genotype-phenotype correlations in patients with cystic fibrosis have been interesting since the end of the 20th century. Still, the present thesis is the first research on …
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Thermodynamics of neutral sets and sequence length changes in the genotype-phenotype map of RNA secondary structure
The genotype-phenotype (GP) map of RNA secondary structure connects RNA sequences and the corresponding folded molecular structures. This relationship is required for modelling the evolution of functional RNA structures. In this thesis, we fill two gaps in the understanding of the RNA GP map: we …
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Population-based genotype-phenotype correlation to stratify incident cases of motor neurone disease in Scotland from 2015-2017
… Neurology Tissue Bank. Two cohorts were genotyped: i) a pilot cohort of patients diagnosed 1989-2014 who were studied using a limited six-gene panel and ii) an incident cohort of patients diagnosed 2015-17 who were genotyped using an extended 49 gene panel. Genotype-phenotype correlations …
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Transposon Mutagenesis Facilitates Discovery Of Genotype-Phenotype Associations and Functional Interrogation of the <i>Mycobacterium Kansasii</i> Genome
… we identified 41 mutants exhibiting unique phenotypes, among them one carrying disruption to a gene encoding a conserved mycobacterial small regulatory RNA for which we established a previously unrecognized role in (macro)colony morphology and biofilm formation. Additionally, we showed …
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Genetic determinants of susceptibility and disease behaviour in early onset Inflammatory Bowel Disease in Scottish children
… genes to both disease susceptibility and disease phenotype. In order to carry out these studies the presenting features of a large cohort of children from across Scotland with IBD diagnosed at less than 16 years were collected, both by examination of hospital case records and by patient interview …
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Genomics of Climatic Adaptation in Populus Trichocarapa
… genotyping to uncover relationships between genotype, phenotype, and environment. We detected strong correlations between adaptive phenotypes, climate, and geography, which suggested climatic selection driving adaptation of these populations to local environments. We subsequently combined …
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