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Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) KU Leuven
Genetic test results can have considerable importance for patients, their parents and more remote family members. Clinical therapy and surveillance, reproductive decisions and genetic diagnostics in family members, including prenatal diagnosis, are based on these results. The genetic test report should therefore provide a clear, concise, accurate, fully interpretative and authoritative answer to the clinical question. The need for harmonizing ...
Genetica van het chronischevermoeidheidssyndroom University of Antwerp
In dit artikel wordt een systematisch overzicht gegeven van wat reeds gekend is over de genetische basis van de neuro-endocriene ontregelingen in het chronischevermoeidheidssyndroom (CVS), meer specifiek in het cortisol en het monoaminesysteem. CVS kent een multifactoriële pathogenese. De meest gerepliceerde en consistente bevindingen wijzen op een ontregeling van het neurobiologisch stresssysteem. Daarnaast zijn er aanwijzingen dat de ...
DNA-chipanalyse in de moleculaire diagnostiek van genetisch heterogene aandoeningen : netvliesaandoeningen als voorbeeld Ghent University
Pinpointing molecular mechanisms of long non-coding RNAs : at the crossroads of biochemistry and genetics Ghent University
Ribonucleic acid (RNA) is one of the major molecular biopolymers in all known forms of life. Although originally known for its crucial roles in directing diverse aspects of translation, today it is know its functions extend to other, if not all, areas of cellular biology. This is demonstrated by the fact that although >80% of the genome is pervasively transcribed, only 2% of the genome accounts for protein-coding genes, putting forward the ...