Department of Pediatrics and medical genetics (ceased 1-10-2018)
5407 publications
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Gene-expression profiling reveals distinct expression patterns for classic versus variant Merkel cell phenotypes and new classifier genes to distinguish Merkel cell from small-cell lung carcinoma
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The molecular genetics of early-onset Alzheimer's disease
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A novel presenilin 1 mutation (gly183val) is associated with Pick's disease in the absence of β-amyloid plaques
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Neuropathological and biochemical characterization of a familial FTD patient carrying PS1 GLY183VAL
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Mutation analysis of candidate genes for chromosome 17-linked tau-negative FTD
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Translocation t(2;3)(p15-23;q26-27) in myeloid malignancies: report of 21 new cases, clinical, cytogenetic and molecular genetic features
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Dose dependent effect of APOE ε4 on behavioral symptoms in frontal lobe dementia patients
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- Journal Article
- A1
- open access
Craniofacial structure in Marfan syndrome: A cephalometrie study
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Female children and adolescents with type 1 diabetes have more pronounced early echocardiographic signs of diabetic carcdiomyopathy
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- Miscellaneous
- open access
Temptation of academic medicine: Second alma mater and "shared employment" concepts as possible way out?
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- Journal Article
- A1
- open access
Radiological sacroiliitis, a hallmark of spondylitis, is linked with CARD15 gene polymorphisms in patients with Crohn's disease
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Chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers
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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
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The human FOXL2 mutation database
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Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders
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- Journal Article
- A1
- open access
Neuroblastoma cells with overexpressed MYCN retain their capacity to undergo neuronal differentiation
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Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients
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Late post-repair ventricular function in patients with origin of the left main coronary artery from the pulmonary trunk
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Intractable ulcerative colitis of infancy in a child with mitochondrial respiratory chain disorder
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Severe haemorrhagic leucoencephalopathy in a young infant
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A syndrome with leuco-encephalopathy, extensive intracranial calcifications, hypothyroidism, failure to thrive and pericardial effusion
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Aicardi-Goutieres-like syndrome
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A patient with Alexander disease
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Follow-up of spinal and brain MRI and proton MRS in a girl with bilateral optic neuropathy, additional CNS symptoms and complex I deficiency (LHON plus, MS-like disease)
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Topiramate-induced nephrolithiasis
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Acute abdomen as presentation for a rare congenital urinary anomaly
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Mannose-binding lectin (MBL) genetic susceptibility for Alzheimer's disease
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Asphyxiating tracheal bronchogenic cyst
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A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation
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Clinical significance of HOX11L2 expression linked to t(5;14)(q35;q32), of HOX11 expression, and of SIL-TAL fusion in childhood T-cell malignancies: results of EORTC studies 58881 and 58951
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- Journal Article
- A1
- open access
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC)
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Recommendations for the cytogenetic management of myelodysplastic syndromes proposed by the Groupe Francais de Cytogenetique Hematologique (GFCH)
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Recommendations for the cytogenetic management of acute myeloblastic leukemia (AML) proposed by the Groupe Francais de Cytogenetique Hematologique (GFCH)
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Recommendations for the cytogenetic management of adult and chidhoodacute lymphoblastic leukemia (ALL) proposed by the Groupe Francais de Cytogenetique Hematologique (GFCH)
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Quality of life in children surviving cancer: A personality and multi-informant perspective
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Stickler syndrome type I and stapes ankylosis
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Orofacial manifestations of congenital fibrillin deficiency: Pathogenesis and clinical diagnostics
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Three new families with arterial tortuosity syndrome
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Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies
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Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders
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- Journal Article
- A1
- open access
The EPIBEL study: Outcomes to discharge from hospital for extremely preterm infants in Belgium
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- Journal Article
- A1
- open access
Outcome analysis of major cardiac operations in low weight neonates
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Neonatal pulmonary interstitial glycogen accumulation disorder
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Ergotamine as a possible cause of Mobius sequence: Additional clinical observation
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Functional analysis of the common carotid artery: relative distension differences over the vessel wall measured in vivo
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Arterial wave reflection: a factor contributing to heart failure in elderly patients with coronary artery disease ?
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Retrospective analysis of efficacy and tolerability of tolterodine in children with overactive bladder
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Two siblings with early presentation of Vanishing White Matter disease
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A patient with late onset Krabbe disease treated by BMT
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Proteomic identification of the myelin proteins