1.

Genomic biomarkers in neurodegenerative disorders.

Joint Congress of the Slovenian Biochemical Society and the Genetic Society of Slovenia with International Participation A major goal of current clinical research in neurodegenerative diseases is to improve early detection of disease and presymptomatic detection of neuronal dysfunction. We also need better tools to assess disease progression in this group of disorders.

COBISS.SI-ID: 26043609

2.

Epigenetic biomarkers in neurodegenerative disorders.

This chapter contains sections titled: ·Epigenetic Marks in Inherited Neurological and Neurodegenerative Disorders ·Epigenetic Dysregulation in Neurodegenerative Disorders ·Gene Candidates for Epigenetic Biomarkers

COBISS.SI-ID: 26433753

3.

Interventions for promoting information and communication technologies adoption in healthcare professionals.

Information and communication technologies (ICT) are defined as digital and analogue technologies that facilitate the capturing, processing, storage and exchange of information via electronic communication. ICTs have the potential to improve information management, access to health services, quality of care, continuity of services, and cost containment. Knowledge is lacking on conditions for successful ICT integration into practice.

COBISS.SI-ID: 25918425

4.

Gene expression changes in blood as a putative biomarker for Huntington's disease.

Using microarray technology, a recent study identified a large number of significantly altered mRNAs in HD blood, from which a 12-gene set was selectedas classifier for discriminating controls and HD patients. The aim of our study was to validate expression changes of these 12 genes in an independent cohort of HD patients and evaluate their sensitivity and specificity.

COBISS.SI-ID: 26255065

5.

Importance of the new method aCGH for cytogenetic diagnostics.

With the use of standard cytogenetic diagnostic tests cases in genetic treatment of mentally impaired children or children with congenital developmental anomalies often remain unexplained. We successfully integrated the new method aCGH. By this method we defined the previously undefined limits of deletion in a boy with a psychomotor development lag and identified a smaller, previously undetected deletion in a girl with dysplastic signs, a heart defect and a psychomotor development lag. The new method was included into the routine genetic diagnostic procedure.

COBISS.SI-ID: 22751961