Search

Now showing items 1-5 of 5

Exome sequencing in a family with luminal-type breast cancer underpinned by variation in the methylation pathway

Van der Merwe, Nicole; Peeters, Armand V.; Pienaar, Fredrieka M.; Bezuidenhout, Juanita; Van Rensburg, Susan J.; Kotze, Maritha J. (MDPI, 2017-02-22)

ENGLISH ABSTRACT: Panel-based next generation sequencing (NGS) is currently preferred over whole exome sequencing (WES) for diagnosis of familial breast cancer, due to interpretation challenges caused by variants of uncertain ...

Evaluation of high-throughput methodology for multi-gene screening in patients with Non-Alcoholic Fatty Liver Disease (NAFLD)

Fisher, Leslie Reginald (Stellenbosch : Stellenbosch University, 2011-12)

ENGLISH ABSTRACT: Non-Alcoholic Fatty Liver Disease (NAFLD) is the most prevalent chronic liver disease in Western countries and is considered the hepatic manifestation of the Metabolic Syndrome (MetS). Its heterogeneous ...

The contribution of fine needle aspiration biopsy in the diagnosis of Mycobacterial Lymphadenopathy with particular reference to children

Wright, Colleen Anne (Stellenbosch : University of Stellenbosch, 2009-12)

ENGLISH ABSTRACT: Expediting a diagnosis of tuberculosis in children, particularly those who are immunocompromised due to HIV/AIDS, is essential, as they are vulnerable to develop severe forms of disease due to their ...

The contribution of the placenta to the diagnosis of congenital tuberculosis

Rabie, Ursula (Stellenbosch : Stellenbosch University, 2014-04)

ENGLISH ABSTRACT: The aim of this pilot project was to determine whether mothers with laboratory confirmed or clinically suspected tuberculosis (TB) had evidence of TB in the placenta. A secondary objective was to ...

Ontogeny of the innate immune response in healthy South African infants

Adams, Rozanne Charlene McChary (Stellenbosch : Stellenbosch University, 2012-12)

ENGLISH ABSTRACT: Infection is a major cause of morbidity and mortality in infants within the first few months of life. Susceptibility to infectious disease in this vulnerable population is more prevalent in resource-limited ...