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Flemish network on rare connective tissue diseases (CTD) : patient pathways in systemic sclerosis : first steps taken
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- Journal Article
- open access
Impaired muscle parameters in adults with mild to severe types of osteogenesis imperfecta: a cross-sectional study
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- Journal Article
- A1
- open access
Somatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disorders
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Bone parameters in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder : a comparative cross-sectional study
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Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation
(2023) -
- Journal Article
- A1
- open access
Analysis of matrisome expression patterns in murine and human dorsal root ganglia
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Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
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- Journal Article
- A1
- open access
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
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Home-based exercise therapy for treating shoulder instability in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders : a randomized trial
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- Journal Article
- open access
NRF2 Shortage in Human Skin Fibroblasts Dysregulates Matrisome Gene Expression and Affects Collagen Fibrillogenesis
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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports
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- Journal Article
- A1
- open access
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
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- Journal Article
- A2
- open access
Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome
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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome : a case-control study
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- Journal Article
- A1
- open access
Societal participation in ehlers-danlos syndromes and hypermobility spectrum disorder, compared to fibromyalgia and healthy controls
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- Miscellaneous
- open access
Editorial : molecular mechanisms of heritable connective tissue disorders
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- Journal Article
- A2
- open access
The impact of hypermobile 'Ehlers-Danlos syndrome' and hypermobile spectrum disorder on interpersonal interactions and relationships
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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
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- Journal Article
- A1
- open access
The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism
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Bone mass, density, geometry and stress‐strain index in adults with osteogenesis imperfecta type I, and their associations with physical activity and muscle function parameters
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- Journal Article
- A1
- open access
Altered multi‐segment ankle and foot kinematics during gait in patients with Hypermobile Ehlers‐Danlos Syndrome/Hypermobility spectrum disorder : a case‐control study
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Electromyographic muscle activity and three-dimensional scapular kinematics in patients with multidirectional shoulder instability : a study in the hypermobile type of the Ehlers-Danlos syndrome and the hypermobility spectrum disorders
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Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.169-169 -
- Journal Article
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Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes
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- Conference Paper
- C3
- open access
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
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Matrisome expression in the dorsal root ganglion
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Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.167-167 -
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome (vol 187, pg 349, 2021)
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- Journal Article
- A1
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Muscle strength, muscle mass and physical impairment in women with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder
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- Conference Paper
- C3
- open access
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
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The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases : insights after the first 5 years of the ERN ReCONNET
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- Journal Article
- A2
- open access
Four decades in the making : collagen III and mechanisms of vascular Ehlers Danlos Syndrome
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- Conference Paper
- C3
- open access
Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster
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- Conference Paper
- C3
- open access
Further insights in the FKBP14-related kyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
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Pain in the Ehlers–Danlos syndromes : mechanisms, models, and challenges
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- Journal Article
- A2
- open access
Loss of TANGO1 leads to absence of bone mineralization
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The impact of COVID-19 on rare and complex connective tissue diseases : the experience of ERN ReCONNET
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- Journal Article
- A1
- open access
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
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Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome
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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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- Journal Article
- A1
- open access
Animal models of Ehlers–Danlos syndromes : phenotype, pathogenesis, and translational potential
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Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen
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- Journal Article
- A1
- open access
Heritable connective tissue disorders in childhood : increased fatigue, pain, disability and decreased general health
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- Journal Article
- A1
- open access
Does muscle strength change over time in patients with hypermobile Ehlers-Danlos syndrome/ Hypermobility Spectrum Disorder? An 8-year follow-up study
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Muscle activity and scapular kinematics in individuals with multidirectional shoulder instability : a systematic review
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Patient perspectives on employment participation in the 'hypermobile Ehlers-Danlos syndrome'
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- Journal Article
- A2
- open access
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
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Collagens in the physiopathology of the Ehlers–Danlos Syndromes
(2021) The collagen superfamily and collagenopathies. In Biology of Extracellular Matrix 8. p.55-119 -
More than meets the eye in Brittle Cornea Syndrome : genotype-phenotype studies on novel and reported pathogenic variants in ZNF469 and PRDM5
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Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
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b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
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The effect of five isometric exercises on glenohumeral translations in healthy subjects and patients with the hypermobility type of the Ehlers-Danlos syndrome (hEDS) or hypermobility spectrum disorder (HSD) with multidirectional shoulder instability : an observational study
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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- Journal Article
- A1
- open access
New insights on the clinical variability of FKBP10 mutations
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The Ehlers-Danlos syndromes
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- Journal Article
- A1
- open access
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency
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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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- Journal Article
- A2
- open access
Physical activity and sleep in patients with hypermobile Ehlers–Danlos syndrome and patients with generalized hypermobility spectrum disorder
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COL1‐related overlap disorder : a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix
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Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome
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Higher fracture prevalence and smaller bone size in patients with hEDS/HSD-a prospective cohort study
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Lack of bone mineralization in a TANGO1 deficient patient
(2020) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 28(Supplement 1). p.254-255 -
- Journal Article
- A1
- open access
b3galt6 Knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
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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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Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency
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Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix
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Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
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Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
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- Journal Article
- A1
- open access
The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review
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Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
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Two novel probands with Myhre syndrome identified through WES
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- Conference Paper
- C3
- open access
Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy
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Identification of unmet needs related to rare and complex connective tissue and musculoskeletal diseases (RCTDS) across EU : the experience of the ERN ReCONNET
(2019) ANNALS OF THE RHEUMATIC DISEASES. In Annals of the Rheumatic Diseases 78(Supplement 2). p.999-999 -
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta
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Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
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Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix
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- Conference Paper
- C3
- open access
Delineating Ehlers-Danlos syndrome, the classical subtype : molecular and clinical characteristics of a large patient cohort.
(2019) -
- Conference Paper
- C3
- open access
Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum
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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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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
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- Miscellaneous
- open access
Clinical practice guidelines : the first year of activity of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET)
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Connecting muscle and matrix : clinical and molecular characterization of six new families with myopathic Ehlers-Danlos syndrome
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Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
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Expanding the clinical and mutational spectrum of myopathic Ehlers-Danlos syndrome : five new families identified
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Connecting muscle and matrix in myopathic Ehlers-Danlos syndrome : clinical and molecular characterization of six new families
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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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Fishing for the missing link : successful translation of a human disorder in zebrafish
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Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features
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Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features
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Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
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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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Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
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- Journal Article
- A1
- open access
Ehlers-Danlos syndromes : state of the art on clinical practice guidelines
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Vascular aspects of the Ehlers-Danlos syndromes
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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
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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 -
- Journal Article
- A1
- open access
Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome : a systematic review
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Updating the evidence on functional capacity evaluation methods : a systematic review
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Classic Ehlers-Danlos syndrome
(2018) GeneReviews®. -
Updating the evidence on functionale capacity evaluation : a systematic review
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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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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Foot kinematics in the hypermobility type of Ehlers-Danlos syndrome using the Ghent Foot Model
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Hypermobility, the Ehlers-Danlos syndromes and chronic pain
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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- Journal Article
- A1
- open access
Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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A framework for the classification of joint hypermobility and related conditions
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Ehlers-Danlos syndrome, classical type
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Identification of a novel COL1A1 mutation associated with Caffey disease
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- Journal Article
- A1
- open access
The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers–Danlos syndrome : the impact of proprioception
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
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P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
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The 2017 International Classification of the Ehlers-Danlos Syndromes
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The International Consortium on the Ehlers-Danlos Syndromes
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The Ehlers-Danlos syndromes, rare types
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- Journal Article
- A1
- open access
Discriminative features in three autosomal recessive cutis laxa syndromes : cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood : a phenomenological, hermeneutical study
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Evaluation of the role of germline RECQL variants in Belgian patients referred for genetic testing in the context of familial breast/ovarian cancer
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- Journal Article
- A1
- open access
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation
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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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Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos syndrome
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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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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
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Auditory phenotype in Stickler syndrome : results of audiometric analysis in 20 patients
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Y RIN2 syndrome : expanding the clinical phenotype
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies
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Type III collagen is important for dermal and cardiovascular development, and type I collagen fibrillogenesis
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Differential expression of type III collagen in male and female mice
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Stickler syndrome: comprehensive clinical and molecular analysis
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The influence of Ehlers-Danlos Syndrome Hypermobility Type on motherhood: a phenomenological, hermeneutical study
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The influence of Ehlers-Danlos Syndrome Hypermobility Type on motherhood: a phenomenological, hermeneutical study
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Cephalometrics in Stickler syndrome : objectification of the typical facial appearance
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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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- Conference Paper
- C3
- open access
Further delineation of the auditory phenotype in Stickler syndrome
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Postaxial polydactyly type A in a patient with Ellis-van Creveld syndrome: additional value of MR imaging
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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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The G2 micronucleus-assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 mutation
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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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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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- Conference Paper
- C3
- open access
Further delineation of the auditory phenotype in Stickler syndrome
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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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The genetics of soft connective tissue disorders
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A rare case of polycarpyly in a patient with Ellis-van Creveld syndrome: plain film findings and additional value of MRI
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Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia
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Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development
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- Journal Article
- A1
- open access
Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)
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Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3
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The G2 micronucleus assay for the analysis of in vitro chromosomal radiosensitivity in individuals carrying a BRCA1 or BRCA2 mutation
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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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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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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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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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Retinitis pigmentosa, cutis laxa and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations
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The Ehlers-Danlos syndrome
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Compound heterozygous mutations of the TNXB gene cause primary myopathy: response
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Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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The G2-micronucleus assay for the detection of in vitro chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers
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Chronic pain in patients with the hypermobility type of Ehlers-Danlos syndrome: evidence for generalized hyperalgesia
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Endogenous pain modulation in the Ehlers-Danlos syndrome, hypermobility type
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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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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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Clinical utility gene card for: osteogenesis imperfecta
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Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing
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Hearing impairment in Stickler syndrome: a systematic review
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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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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
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
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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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Development of an S-G2 micronucleus assay for the detection of in vitro chromosomal radiosensitivity in high-risk women subjected to early mammography screening for breast cancer
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Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome
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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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Erfelijke vormen van thoracale aorta-aneurysma's en -dissecties : diagnostiek en beleid
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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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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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- Journal Article
- A1
- open access
Hearing impairment in Stickler syndrome: a systematic review
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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
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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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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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- Journal Article
- A1
- open access
Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
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Spier- en gewrichtsproblemen bij het hypermobiele type van het Ehlers-Danlos syndroom
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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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Identification of binding partners interacting with the α1-N-propeptide of type V collagen
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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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- 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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Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis
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- Conference Paper
- C3
- open access
Osteogenesis imperfecta: the audiologic phenotype lacks correlation with the genotype
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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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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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Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type
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Health status and impact of pain : a comparative study between female patients with the Ehlers-Danlos syndrome, fibromyalgia and rheumatoid arthritis
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Musculocontractural ehlers-danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene
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Clinical and genetic aspects of ehlers-Danlos syndrome, classic type
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Vascular haemostasis
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The heritable disorders of connective tissue: epidemiology, nosology and clinical features
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Joint position sense and vibratory perception sense in patients with the Ehlers-Danlos syndrome hypermobility type
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- Journal Article
- A1
- open access
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
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A review of the ADAMTS family, pharmaceutical targets of the future
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Bleeding in the heritable connective tissue disorders: Mechanisms, diagnosis and treatment
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The Ehlers-Danlos syndrome
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COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome
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Ehlers-Danios syndromes and Marfan syndrome