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Somatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disorders
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- Journal Article
- A1
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Generalized joint hypermobility and anxiety are serious risk factors for dysfunctioning in dance students : a one-year follow-up study
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Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology
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Generalized joint hypermobility and anxiety in adolescents and young adults, the impact on physical and psychosocial functioning
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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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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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Higher fracture prevalence and smaller bone size in patients with hEDS/HSD-a prospective cohort study
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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
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Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome
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- Journal Article
- A1
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Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature
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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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Osteogenesis imperfecta
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Vascular smooth muscle cells and arterial stiffening : relevance in development, aging, and disease
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The spectrum of spontaneous coronary artery dissection : illustrated review of the literature
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Measurement properties of clinical assessment methods for classifying generalized joint hypermobility : a systematic review
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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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Disability in adolescents and adults diagnosed with hypermobility-related disorders : a meta-analysis
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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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- 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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The genetics of soft connective tissue disorders
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Marfan syndrome and related heritable thoracic aortic aneurysms and dissections
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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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Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene
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Criteria for definition of a complex abdominal wall hernia
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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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Compound heterozygous mutations of the TNXB gene cause primary myopathy
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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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Reply to the letter to the editor by Marc Williams
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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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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
The revised Ghent nosology for the Marfan syndrome
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Vascular haemostasis
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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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Fortschritt in der Pathogenese des Marfan-Syndroms und verwandter Krankheiten
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Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13