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 11 of 11 for “"mutation screening"”.
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Molecular Genetics of Usher Syndrome: Mutation Screening Studies and Discovery of the Usher Syndrome Type IIC Gene, the Very Large G-Protein Coupled Receptor (VLGR1).
… mainly concerns the identification of mutations that cause Usher syndrome. An accurate molecular diagnosis of the causative gene defect is an important variable in evaluating the benefit of modalities for slowing and/or arresting retinal deterioration. Genetic counseling of recurrence …
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Malignant hyperthermia: allele specific expression and mutation screening of the ryanodine receptor 1 : a dissertation presented to Massey University in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Biochemistry
… is a dominant skeletal muscle disorder caused by mutations in the ryanodine receptor skeletal muscle calcium release channel (RyR1). Allele-specific differences in RyR1 expression levels might provide insight into the observed incomplete penetrance and variations in MH phenotypes between …
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Molecular genetics of arrhythmogenic right ventricular and dilated cardiomyopathy in South Africans
… (I) determine the prevalence of desmosomal gene mutations in arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM) in desmosomal protein genes (i.e., plakophilin 2, desmocollin 2, desmoglein 2, and plakoglobin), (2) establish the presence of a founder effect in …
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Mutationsanalyse der Exone 26 bis 52 des PKHD1-Gens bei der Autosomal Rezessiv erblichen Polyzystischen Nierenerkrankung (ARPKD)
… the PKHD1 gene in 2002. This study reports mutation screening by SSCP analysis of the exons 26-52 of the longest continuous open reading frame of the PKHD1 gene in 90 ARPKD families. It identifies 11 different mutations, 9 of them have not been reported previously. Of the observed changes, 2 …
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The Effect of Embryonic Alcohol Exposure on Brain Function and Behavior in Zebrafish Strains
… choose the more appropriate strain for drug or mutation screening all of which will facilitate a better understanding of FASD.
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Mutation analysis of important retinal candidate genes: progression from research to diagnostic service
… The research in this Division currently involves mutation screening of retinal candidate genes, with the goal of identifying the causative genetic mutation in each of the families registered in the database, in order to facilitate future therapeutic intervention. The purpose of this study was to …
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The molecular genetics of Type 2 diabetes
… glucokinase gene. Other work studied specific mutations in the tRNA<sup>Leu(UUR)</sup> gene of mitochondrial DNA and in the glucagon receptor gene. <br></br><br></br> The Introductory chapter presents an overview of Type 2 diabetes, and the influence of the environment and the contribution of …
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Mutationsanalyse bei 21 mut°-Patienten mit Methylmalonylazidurie (MMA)
… Arbeit wurden 21 Patienten mit der mut°-Form auf Mutationen im MCM-Gen untersucht. Es wurden elf neue und zwei bereits beschriebene Mutationen nachgewieden und Rückschlüsse auf die Auswirkungen in der Enzymstruktur der MCM gezogen.
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Statistical Methods For Assessing Structural Change In Human & Microbial Genomes
… problems, such as clinical detection of disease, mutation discovery, and targeting specific biomarkers associated with complex diseases. Compared with conventional Sanger sequencing, next-generation sequencing costs much less due to massively parallel high-throughput sequencing. However, due to …
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Genetica molecolare dell'autismo: studi di associazione ed analisi di geni candidati
… probands for the risk haplotype and performed a mutation screen of all known exons in order to identify novel coding variants associated to autism. On the AUTS1 locus a duplication was detected in one multiplex family that was transmitted from father to an affected son. This duplication …
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Mutationsscreening im Ryanodinrezeptor 1 bei Patienten mit maligner Hyperthermie
… und deren Angehörigen auf MH-verursachende Mutationen im Gen für den Ryanodinrezeptor 1 (RYR 1) untersucht. Es wurde dabei eine Hotspotregion des RYR 1 ausgewählt, für die bereits im Vorfeld mehrere Mutationen bekannt waren. Das Screening wurde mit Hilfe der Methode single-stranded …