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 4 of 4 for “"Cascade screening"”.
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ONCOGENETIC AND DECISION MAKING PROCESS. MEN¿S ADHERENCE TO CASCADE SCREENING FOR HEREDITARY CANCER SYNDROMES.
… Clinical guidelines advocate for the use of cascade screening (CS) to increase the identification rates of at-risk family members and advance genetically targeted disease prevention. However, despite the benefits of CS, testing uptake is relatively low, particularly in at-risk men, for whom …
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Molecular diagnosis in inherited polycystic kidney disease
… PKD guides treatment decisions, family planning, cascade screening and assessment of living kidney donors. This thesis describes the first application of WGS in ADPKD and demonstrates the validity and utility of integrating genomics into clinical care for families with this common disease.
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Deconvoluting genetic variants associated with aortic disease using stem cell models
… diagnosis, prognostication, and determination of cascade screening requirements. This study aimed to utilise induced pluripotent stem cell (iPSC) models of TAD to analyse genetic variants from the 100,000 Genomes Project by determining causality, disease mechanisms and identifying drug targets. We …
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Genetic analysis of inherited retinal diseases in indigenous Southern African populations
… ABCA4, CERKL, and PDE6B) in six families. Taqman screening revealed four additional probands with identical homozygous mutations in CERKL and PDE6B. An X-linked gene (RP2) mutation was subsequently identified in an affected family with semi-dominant retinitis pigmentosa. Supplementary analysis of …