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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
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Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management
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Stickler syndrome: comprehensive clinical and molecular analysis
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Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis
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- Book Chapter
- open access
Questioning the pathogenic role of the GLA p.Ala143Thr 'mutation' in Fabry disease: implications for screening studies and ERT
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Characterization of cardiovascular involvement in pseudoxanthoma elasticum families
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Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
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Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum
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Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa : evidence for a spectrum of ectopic calcification disorders?
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Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations
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Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum
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Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients
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DNA-chipanalyse in de moleculaire diagnostiek van genetisch heterogene aandoeningen : netvliesaandoeningen als voorbeeld
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Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome
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Novel clinico-molecular insights in Pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart
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Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation
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Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity
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Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
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Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome
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FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
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Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis
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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
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Spectrum and distribution of FOXL2 gene mutations and variants in BPES, POF and XX male patients: tentative genotype-phenotype correlation
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Refined genetic and physical mapping of BPES type II
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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): report of a large family
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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical subtypes and their genotype
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Fibromuscular dysplasia of the arteries: an arterial occlusive disease with severe neurological complications at young age
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Osteoporosis-pseudoglioma syndrome
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Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families