em. prof. dr. Anne De Paepe
- ORCID iD
- 0000-0002-4134-5940
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- Journal Article
- A1
- open access
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
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Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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A clinical scoring system for congenital contractural arachnodactyly
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VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum
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Health-related quality of life in children and young adults with Marfan syndrome
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- Journal Article
- A1
- open access
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
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Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
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De arts van morgen moet vertrouwd zijn met de basisbegrippen van de genetica
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- Journal Article
- A2
- open access
Creatine transporter defect masquerading as Lujan Syndrome
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The inflammasome pathway is involved in PXE through IL1B upregulation in patients with a severe cardiovascular PXE phenotype
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- Journal Article
- A1
- open access
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
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Arterial tortuosity syndrome : 40 new families and literature review
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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
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- Journal Article
- A1
- open access
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline
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- Journal Article
- A1
- open access
CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
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- Conference Paper
- C3
- open access
A homozygous CREB3L1 missense mutation expands the mutational spectrum of CREB3L1-related osteogenesis imperfecta
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- Conference Paper
- C3
- open access
Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients
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Zebrafish modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model
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Delineation of a clinical scoring system and diagnostic criteria for CCA
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- Journal Article
- A1
- open access
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
(2018) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 115(34). p.E8037-E8046 -
Cardiovascular manifestations in inherited connective tissue disorders
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- Miscellaneous
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment (vol 6, 30330, 2016)
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Classic Ehlers-Danlos syndrome
(2018) GeneReviews®. -
Osteogenesis imperfecta
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Attitudes of European geneticists regarding expanded carrier screening
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- Conference Paper
- C3
- open access
Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
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Arterial tortuosity syndrome : 40 new families and literature review
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Arterial tortuosity syndrome : 37 new families and literature review
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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Efficacy of losartan as add-on therapy to prevent aortic growth and ventricular dysfunction in patients with Marfan syndrome : a randomized, double-blind clinical trial
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- Journal Article
- A1
- open access
Pre- and post-testing counseling considerations for the provision of expanded carrier screening : exploration of European geneticists’ views
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
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The 2017 International Classification of the Ehlers-Danlos Syndromes
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A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts
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Arterial tortuosity syndrome : 29 novel families
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- Journal Article
- A1
- open access
Zebrafish collagen type I: molecular and biochemical characterization of the major structural protein in bone and skin
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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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Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts
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Fibroblasts in soft tissue mineralization display an osteogenic expression pattern but do not transform into mature osteoblasts
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Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos syndrome
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7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly
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- Journal Article
- A1
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment
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Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome
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Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
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A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Congenital contractural arachnodactyly
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Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues
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Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
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An exploratory case-control study on the impact of IL-1 gene polymorphisms on early implant failure
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RT-qPCR gene expression analysis in zebrafish : preanalytical precautions and use of expressed repetitive elements for normalization
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Stickler syndrome: comprehensive clinical and molecular analysis
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Identification of von Willebrand disease type 1 in a patient with Ehlers–Danlos syndrome classic type
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- Journal Article
- A1
- open access
Ehlers-Danlos syndrome, hypermobility type, is linked to chromosome 8p22-8p21.1 in an extended Belgian family
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RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder
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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
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Genetics of the Ehlers-Danlos syndrome: more than collagen disorders
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Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists
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- Journal Article
- A1
- open access
Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data : a report from the Marfan Treatment Trialists' Collaboration
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Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome
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Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis
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Intrinsic cardiomyopathy in Marfan syndrome: results from in- and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans
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Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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- Journal Article
- A1
- open access
Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population
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- Journal Article
- A1
- open access
Gene panel sequencing in heritable thoracic aortic disorders and related entities: results of comprehensive testing in a cohort of 264 patients
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- Journal Article
- A1
- open access
Efficiency of exome sequencing for the molecular diagnosis of Pseudoxanthoma Elasticum
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A zebrafish model for Bruck syndrome caused by PLOD2 mutations
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Characterization of a col1a1a haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
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Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia
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Whole exome sequencing as a novel tool for the detection of modifier genes in pseudoxanthoma elasticum
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Novel phenotypes and genes in pseudoxanthoma elasticum-related soft tissue mineralization: results of an integrative approach
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Marfan syndrome and related heritable thoracic aortic aneurysms and dissections
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Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status
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Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development
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Whole exome sequencing as a novel tool for the detection of modifier genes in Pseudoxanthoma elasticum
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Attitudes of health care professionals toward carrier screening for cystic fibrosis: a review of the literature
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- Journal Article
- A1
- open access
Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum
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- Journal Article
- A1
- open access
Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter
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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene
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Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
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Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients
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Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure
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Erfelijkheid
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Anne De Paepe & Elisabeth Monard : dubbelinterview door Jan Van Pelt
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- Journal Article
- A1
- open access
Expressed repeat elements improve RT-qPCR normalization across a wide range of zebrafish gene expression studies
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Reference values for echocardiographic assessment of the diameter of the aortic root and ascending aorta spanning all age categories
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Expressed repeat elements improve RT-qPCR normalization across a wide range of zebrafish gene expression studies
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Phf6 plays a role in hematopoiesis and thymopoiesis in zebrafish
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Phf6 plays a role in hematopoiesis and thymopoiesis in zebrafish
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Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development
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Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country
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Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene
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Osteogenesis imperfecta: meer dan alleen collageen?
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De vakantiejob van Anne De Paepe
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Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis
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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
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A zebrafish model for Bruck Syndrome caused by PLOD2 mutations
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Characterization of a COL1A1A haploinsufficient zebrafish model for Osteogenesis Imperfecta type I
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Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
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Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling
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Autonomic symptom burden in the hypermobility type of Ehlers–Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls
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Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
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The Ehlers-Danlos syndrome
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- Journal Article
- A1
- open access
Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model
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Compound heterozygous mutations of the TNXB gene cause primary myopathy: response
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Voorwoord
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Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome
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Pharmacologic activation of wild-type p53 by nutlin therapy in childhood cancer
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Mutation detection rate and - characteristics in thoracic aortic aneurysm (TAA) related disorders: results from next generation sequencing (NGS) panel testing
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Endogenous pain modulation in the Ehlers-Danlos syndrome, hypermobility type
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Rector Anne De Paepe : de Gentse Universiteit is een wereldspeler geworden
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Arterial tortuosity syndrome
(2014) GeneReviews®. -
- Journal Article
- A1
- open access
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
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Genes in thoracic aortic aneurysms/dissections : do they matter?
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- Journal Article
- A2
- open access
Pharmacogenomics in children: advantages and challenges of next generation sequencing applications
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- Journal Article
- A1
- open access
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
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The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes
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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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Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
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Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2
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Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome
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- Journal Article
- A2
- open access
Zebrafish models for ectopic mineralization disorders : practical issues from morpholino design to post-injection observations
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Ectopic soft tissue calcification: process, determinants and health impact
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Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy
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Characterization of cardiovascular involvement in pseudoxanthoma elasticum families
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Normal values for ascending aortic diameters with 2D echocardiography
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Marfan related cardiomyopathy: an in vivo and in vitro study of the fbn1C1039G/+ mouse model
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Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum
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- Journal Article
- A2
- open access
The ABCC6 transporter : what lessons can be learnt from other ATP-binding cassette transporters?
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Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing
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Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder
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Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos syndrome
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Copper deficiency in patients with cystinosis with cysteamine toxity
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- Conference Paper
- C3
- open access
Arguments for dysfunctional pain in Ehlers-Danlos syndrome hypermobility type
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- Journal Article
- A1
- open access
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome
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C-propeptide mutations in procollagen type I and V are associated with endoplasmic reticulum stress-specific unfolded protein responses
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Hoop voor de toekomst: genen geven hun geheimen prijs
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Disorders of connective tissue and extracellular matrix
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Sequence alterations in the carboxyl-terminal propeptide domain
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- Journal Article
- A1
- open access
First report of the genetic background of Marfan syndrome in Polish patients
(2013) POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE. 123(11). p.646-648 -
- Journal Article
- A1
- open access
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
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New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections
(2013) POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE. 123(12). p.693-700 -
- Journal Article
- A2
- open access
Ehlers-Danlos syndrome type VIII : a rare cause of leg ulcers in young patients
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Compound heterozygous mutations of the TNXB gene cause primary myopathy
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Ehlers-Danlos Syndrome
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- Journal Article
- A2
- open access
Selective inhibition of the p53–MDM2 interaction by nutlin drugs: a new therapeutic perspective for neuroblastoma
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Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
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Dickkopf-3 is regulated by the MYCN-induced miR-17-92 cluster in neuroblastoma
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GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling
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The new Ghent criteria for Marfan syndrome: what do they change ?
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Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing
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Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing
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Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome
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Agressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants
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Identification of a novel recurrent 1q42.2-1qter deletion in high risk MYCN single copy 11q deleted neuroblastomas
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- Journal Article
- A2
- open access
Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues
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Het Ehlers-Danlossyndroom, een aandoening met vele gezichten
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Development of a novel COL3A1 transgenic mouse model for vascular Ehlers Danlos Syndrome
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Muscle-tendon tissue properties in the hypermobility type of Ehlers-Danlos Syndrome
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Ehlers-Danlos arthrochalasia type (VIIA-B): expanding the phenotype: from prenatal life through adulthood
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- Journal Article
- A1
- open access
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis
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In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
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Erfelijke vormen van thoracale aorta-aneurysma's en -dissecties : diagnostiek en beleid
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Funding opportunities include PhD and postdoctoral fellowships and research grants for senior clinical investigators in Belgium
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- Conference Paper
- C3
- open access
Symmetry of footalignment and ankle flexibility in female patients with Ehlers Danlos Syndrome-Hypermobile Type
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- Conference Paper
- C3
- open access
Impact of Ehlers Danlos Syndrom-Hypermobile Type on lower limb function
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Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers Danlos syndrome
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Impaired vascular elasticity and diastolic dysfunction in pseudoxanthoma elasticum
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Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
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Autonomic function tests in patients with the hypermobility type of Ehlers-Danlos syndrome
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The Ehlers-Danlos syndrome, a disorder with many faces
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- Journal Article
- A1
- open access
Association of PHB 1630 C > T and MTHFR 677 C > T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study
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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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The Ghent Marfan trial: a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers
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Impaired vascular elasticity and diastolic dysfunction in pseudoxanthoma elasticum
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Direct-to-consumer genetic testing for health-related purposes in the European Union
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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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Selectieve inhibitie van de p53–MDM2 interactie door nutlin-3 als een nieuwe therapeutische strategie voor neuroblastoom
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Pharmacological activation of p53 and gene therapy as emerging treatment options for neuroblastoma
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- Journal Article
- A1
- open access
The microRNA body map : dissecting microRNA function through integrative genomics
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Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes
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EVI1-mediated down regulation of MIR449A is essential for the survival of EVI1 positive leukaemic cells
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Balance and gait and risk of falling in females with the Ehlers-Danlos syndrome
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Muscle mass, muscle strength, and functional impairment in women with the Ehlers-Danlos syndrome
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Presence and impact of autonomic symptoms in patients with Ehlers-Danlos syndrome
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Evaluation of RAD51C as a new breast cancer suceptibility gene in Belgian/Dutch population
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Oorzaken en behandeling van aortadilatatie bij het bicuspide-aortaklepsyndroom
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- Journal Article
- A1
- open access
Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
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Left ventricular dysfunction in a mouse model of Marfan syndrome
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Genomic microarrays: challenges and opportunities: five years experience in a diagnostic setting
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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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Reply to the letter to the editor by Marc Williams
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Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
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Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations
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Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year
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Identification of binding partners interacting with the α1-N-propeptide of type V collagen
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The relationship between genetic testing, psychological well-being and surveillance behavior: a questionnaire study in presymptomatic female and male BRCA carriers and non-carriers
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Balance, gait, falls and fear of falling in women with the hypermobility type of ehlers-danlos syndrome.
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Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome
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Patienten-spezifisches Modell der Wandschubspannung von Aortenbogen
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Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
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Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage
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The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)
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Functional analysis of the p53 pathway in neuroblastoma cells using the small-molecule MDM2 antagonist Nutlin-3
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- Journal Article
- A1
- open access
Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum
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- Journal Article
- A1
- open access
A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe Kyphoscoliosis and eye involvement
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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
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Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis
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- Journal Article
- A2
- open access
Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis
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Klinische en genetische aspecten van het syndroom van Turner
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- Conference Paper
- C3
- open access
Osteogenesis imperfecta: the audiologic phenotype lacks correlation with the genotype
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The lymphatic vasculature determines the extent and localization of ectopic calcification in pseudoxanthoma elasticum
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EFEMP2-related cutis laxa
(2011) GeneReviews®. -
De genetische raadpleging: waarom doorverwijzen ?
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Ehlers-Danlos syndrome, classic type
(2011) GeneReviews®. -
Health status and impact of pain: a comparative study between patients with Ehlers-Danlos syndrome, fibromyalgia, and rheumatoid arthritis
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- Conference Paper
- C3
- open access
Impaired balance and gait and increased risk of falling in females with the Ehlers-Danlos syndrome
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Presence and impact of autonomic symptoms in patients with the hypermobility type of Ehlers-Danlos syndrome
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Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type)
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Cytogenetic and Array-CGH Characterization of a 6q27 Deletion in a Patient With Developmental Delay and Features of Ehlers-Danlos Syndrome
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The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)
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Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome
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- Journal Article
- A1
- open access
methGraph: A genome visualization tool for PCR-based methylation assays
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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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The miRNA body map: dissecting miRNA function through integrative genomics
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- Journal Article
- A1
- open access
Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines
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- Journal Article
- A1
- open access
Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
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Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome
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- Journal Article
- A1
- open access
Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
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- Journal Article
- A1
- open access
The revised Ghent nosology for the Marfan syndrome
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Next generation sequencing: (r)evolutie in DNA sequenering en haar rol in de moderne geneeskunde
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Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
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- Journal Article
- A1
- open access
Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1
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FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions
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Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type
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Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification
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Toepassing van microarray-analyse in de genetische diagnostiek
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DNA-chipanalyse in de moleculaire diagnostiek van genetisch heterogene aandoeningen : netvliesaandoeningen als voorbeeld
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Preconceptueel en prenataal genetisch advies
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Kanker en erfelijkheid : van moleculaire diagnostiek tot psychologische begeleiding
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Het Marfansyndroom : een paradigma voor de studie van aorta-aneurysma's