Publications
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Genetics in everyday life. A qualitative study of individuals at risk of hereditary breast and ovarian cancer (BRCA) and Huntington’s disease (HD) about fears of genetic discrimination KU Leuven
For decades, as our understanding of human genetics has continued to advance, socio-ethical and legal scholars have raised questions and concerns about the ethical and social implications (ELSI issues) of genetics. One specific ELSI concern is that increased knowledge and applications of human genetics might lead to new forms of negative treatment, discrimination, and stigmatisation. In the nineties, several Western countries responded to this ...
Hemangioblastoma and Von Hippel-Lindau Disease: Genetic Background, Spectrum of Disease, and Neurosurgical Treatment Vrije Universiteit Brussel
Introduction: Hemangioblastomas are rare, histologically benign, highly vascularized tumors of the brain, the spinal cord, and the retina, occurring sporadically or associated with the autosomal dominant inherited von Hippel-Lindau (VHL) disease. Children or adults with VHL disease have one of > 300 known germline mutations of the VHL gene located on chromosome 3. They are prone to develop hemangioblastomas, extremely rarely starting at ...
Progress in unraveling the genetic etiology of Parkinson disease in a genomic era University of Antwerp
Parkinson disease (PD) and Parkinson-plus syndromes are genetically heterogeneous neurological diseases. Initial studies into the genetic causes of PD relied on classical molecular genetic approaches in well-documented case families. More recently, these approaches have been combined with exome sequencing and together have identified 15 causal genes. Additionally, genome-wide association studies (GWASs) have discovered over 25 genetic risk ...
The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes Vrije Universiteit Brussel
Paget's disease of bone (PDB) is one of the most frequent metabolic bone disorders (1-5%), next to osteoporosis, affecting individuals above age 55. Sequestosome1 mutations explain a part of the PDB patients, but still the disease pathogenesis in the remaining PDB patients is largely unknown. Therefore, association studies investigating the relationship between genetic polymorphisms and sporadic PDB have been performed to find the genetic risk ...
The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes Hasselt University University of Antwerp Ghent University KU Leuven
Paget's disease of bone (PDB) is one of the most frequent metabolic bone disorders (1-5%), next to osteoporosis, affecting individuals above age 55. Sequestosome1 mutations explain a part of the PDB patients, but still the disease pathogenesis in the remaining PDB patients is largely unknown. Therefore, association studies investigating the relationship between genetic polymorphisms and sporadic PDB have been performed to find the genetic risk ...
Genetic factors conferring an increased susceptibility to develop Crohn’s disease also influence disease phenotype. Results from the IBDchip European Project KU Leuven
OBJECTIVE: Through genome-wide association scans and meta-analyses thereof, over 70 genetic loci (Crohn's disease (CD) single nucleotide polymorphisms (SNPs)) are significantly associated with CD. We aimed to investigate the influence of CD-SNPs and basic patient characteristics on CD clinical course, and develop statistical models to predict CD clinical course. DESIGN: This retrospective study included 1528 patients with CD with more than 10 ...
Genetic risk profiling and prediction of disease course in Crohn's disease patients Ghent University KU Leuven
BACKGROUND & AIMS: Clinical presentation at diagnosis and disease course of Crohn's disease (CD) are heterogeneous and variable over time. Early introduction of immunomodulators and/or biologicals might be justified in patients at risk for disease progression, so it is important to identify these patients as soon as possible. We examined the influence of recently discovered CD-associated susceptibility loci on changes in disease behavior and ...