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Article
Open AccessEffectiveness of the mHealth intervention ‘MyDayPlan’ to increase physical activity: an aggregated single case approach
e- and mHealth interventions using self-regulation techniques like action and co** planning have the potential to tackle the worldwide problem of physical inactivity. However, they often use one-week self-re...
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Article
Open AccessAcceptability and feasibility of the mHealth intervention ‘MyDayPlan’ to increase physical activity in a general adult population
Electronic health (eHealth) and mobile health (mHealth) interventions have the potential to tackle the worldwide problem of physical inactivity. However, they often suffer from large attrition rates. Consequen...
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Article
Open AccessZebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin
Over the last years the zebrafish imposed itself as a powerful model to study skeletal diseases, but a limit to its use is the poor characterization of collagen type I, the most abundant protein in bone and sk...
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Chapter
Klinische genetica, cytogenetica en moleculaire genetica
De finalisering van het Humaan Genoom Project (HGP) is een belangrijke mijlpaal in de geschiedenis van de moderne genetica in het laatste decennium. Dit project heeft geleid tot een enorme hoeveelheid nieuwe i...
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Article
Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature
Recent technological developments in molecular genetics facilitate the large-scale detection of inherited genetic disorders and allow an increasing number of genetic conditions to be screened for (American Col...
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Article
Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing
Despite extensive analysis of the BRCA1 and BRCA2 genes, germline mutations are detected in <20% of families with a presumed genetic predisposition for breast and ovarian cancer. Recent literature reported RAD51C
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Article
Unusual Presentation of Combined Saggital-Metopic Synostosis May Represent a Novel Autosomal Dominant Craniosynostosis Syndrome
Background: Craniosynostosis, caused by early fusion of one or more cranial sutures, can include premature fusion of the saggital (scaphocephaly) or metopic suture (trigonocephaly). Though often occuring as isola...
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Article
815 Neonatal Presentation of Ehlers-Danlos Type Vii: Diagnostic Considerations
Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective-tissue disorders characterized by hypermobility, tissue fragility and skin abnormalities. Eleven subtype...
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Article
Open Access3.3 Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome
Vascular Ehlers-Danlos syndrome (vEDS) is a rare severe genetic disease which results from mutations in the gene encoding type III procollagen (COL3A1), characterized by vascular and/or hollow organic ruptures...
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Article
A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in theTGFBR2 gene substantiates interindividual clinical variability
We report on a 2-year-old Polish girl with typical manifestations of Loeys-Dietz syndrome (LDS), a rare genetic condition belonging to the group of Marfan-related disorders. The characteristic LDS symptoms obs...
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Article
Escape from p53-mediated tumor surveillance in neuroblastoma: switching off the p14ARF-MDM2-p53 axis
A primary failsafe program against unrestrained proliferation and oncogenesis is provided by the p53 tumor suppressor protein, inactivation of which is considered as a hallmark of cancer. Intriguingly, mutatio...
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Article
Open AccessMarfan and Marfan-like syndromes
With the help of both clinical and genetic diagnostic tools, the spectrum of inherited disorders affecting the arterial system has extended tremendously over the past decades. Discriminating these different en...
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Chapter and Conference Paper
Wall shear stress in the mouse aortic arch : Does size matter?
In recent studies wall shear stress (WSS) in the mouse aortic arch has been investigated and values up to 30 times higher than in humans have been reported. However adult mice experience a significant increase...
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Article
Molecular cytogenetic study of 126 unselected T-ALL cases reveals high incidence of TCRβ locus rearrangements and putative new T-cell oncogenes
Chromosomal aberrations of T-cell receptor (TCR) gene loci often involve the TCRαδ (14q11) locus and affect various known T-cell oncogenes. A systematic fluorescent in situ hybridization (FISH) screening for the ...
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Article
A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias
Chromosomal translocations with breakpoints in T-cell receptor (TCR) genes are recurrent in T-cell malignancies. These translocations involve the TCRαδ gene (14q11), the TCRβ gene (7q34) and to a lesser extent th...
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Article
Open AccessBRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families
Worldwide variation in the distribution of BRCA1 and BRCA2 mutations is well recognised, and for the Belgian population no comprehensive studies about BRCA1/2 mutation spectra or frequencies have been published. ...
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Article
Molecular cytogenetic analysis of 10;11 rearrangements in acute myeloid leukemia
MLLT10 (previously called AF10) is a moderately common MLL fusion partner predominantly occurring in acute monoblastic leukemia (AML-M5). 10;11 rearrangements require at least three breaks in order to generate an...
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Article
Association of the Type I Collagen alpha1 Sp1 Polymorphism, Bone Density and Upper Limb Muscle Strength in Community-Dwelling Elderly Men
A polymorphic binding site of the Sp1 transcription factor in the gene encoding the alpha1 chain of type I collagen is associated with bone mineral density (BMD) and, independently, with fracture risk in post...
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Article
Open AccessMutation analysis of P73 and TP53 in Merkel cell carcinoma
The p73 gene has been mapped to 1p36.33, a region which is frequently deleted in a wide variety of neoplasms including tumours of neuroectodermal origin. The p73 protein shows structural and functional homology t...
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Chapter
Ethylene Signaling: More Players in the Game
The Arabidopsis ethylene response pathway was established by characterization of ethylene mutants that were isolated exploiting the triple response of dark-grown seedlings. The various triple response screens wer...
