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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

Matrix biology, 2018-09, Vol.70, p.72-83

2018

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Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study

Journal of the American College of Cardiology, 2019-04, Vol.73 (15), p.1948-1957

2019

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High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders

Journal of allergy and clinical immunology, 2013-08, Vol.132 (2), p.378-386

2013

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Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function

Matrix biology, 2021-01, Vol.95, p.52-67

2021

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Pain in Ehlers-Danlos Syndrome Is Common, Severe, and Associated with Functional Impairment

Journal of pain and symptom management, 2010-09, Vol.40 (3), p.370-378

2010

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Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology

Matrix biology, 2014-01, Vol.33, p.10-15

2014

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High prevalence of radiological vertebral fractures in adult patients with Ehlers–Danlos syndrome

Bone (New York, N.Y.), 2016-03, Vol.84, p.88-92

2016

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Ehlers–Danlos syndrome in rheumatology: Diagnostic and therapeutic challenges

Joint, bone, spine : revue du rhumatisme, 2015-10, Vol.82 (5), p.305-307

2015

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Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

American journal of human genetics, 1999-08, Vol.65 (2), p.308-317

1999

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Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers–Danlos syndrome fibroblasts

Biochimica et biophysica acta, 2012-10, Vol.1820 (10), p.1576-1587

2012

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Vascular aspects of the Ehlers-Danlos Syndromes

Matrix biology, 2018-10, Vol.71-72, p.380-395

Malfait, Fransiska

2018

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Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications

Clinical neurology and neurosurgery, 2020-06, Vol.193, p.105775-105775, Article 105775

2020

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In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population

Egyptian Journal of Medical Human Genetics, 2024-12, Vol.25 (1), p.8, Article 8

2024

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The kyphoscoliotic type of Ehlers–Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine

Molecular genetics and metabolism, 2002-07, Vol.76 (3), p.211-216

2002

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Human dermatosparaxis : a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen

American journal of human genetics, 1992-08, Vol.51 (2), p.235-244

1992

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Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14

Biochimica et biophysica acta. General subjects, 2019-03, Vol.1863 (3), p.623-631

2019

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Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK

European journal of medical genetics, 2022-10, Vol.65 (10), p.104592-104592, Article 104592

2022

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An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients

Biochemical and biophysical research communications, 2020-01, Vol.521 (2), p.310-317

2020

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Type V collagen regulates the structure and biomechanics of TMJ condylar cartilage: A fibrous-hyaline hybrid

Matrix biology, 2021-08, Vol.102, p.1-19

2021

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Reply: Oral Fluoroquinolone and the Risk of Aortic Dissection

Journal of the American College of Cardiology, 2019-01, Vol.73 (3), p.383-384

2019

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Inheritance of an RNA splicing mutation (G+1IVS20) in the type III procollagen gene (COL3Al) in a family having aortic aneurysms and easy bruisability : phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV

American journal of human genetics, 1990-07, Vol.47 (1), p.112-120

1990

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Wound healing-related properties detected in an experimental model with a collagen gel contraction assay are affected in the absence of tenascin-X

Experimental cell research, 2018-02, Vol.363 (1), p.102-113

2018

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Ehlers-Danlos Syndrome: It’s Not Your Normal Hoofbeats

Journal for nurse practitioners, 2019-04, Vol.15 (4), p.277-281

2019

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Abnormalities of collagen fibrils in a rabbit with a connective tissue defect similar to Ehlers-Danlos syndrome

Research in veterinary science, 1993-11, Vol.55 (3), p.346-350

1993

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Clinical and molecular overlap between myopathies and inherited connective tissue diseases

Neuromuscular disorders : NMD, 2008-11, Vol.18 (11), p.843-856

2008

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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study

High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders

Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function

Pain in Ehlers-Danlos Syndrome Is Common, Severe, and Associated with Functional Impairment

Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology

High prevalence of radiological vertebral fractures in adult patients with Ehlers–Danlos syndrome

Ehlers–Danlos syndrome in rheumatology: Diagnostic and therapeutic challenges

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers–Danlos syndrome fibroblasts

Vascular aspects of the Ehlers-Danlos Syndromes

Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications

In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population

The kyphoscoliotic type of Ehlers–Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine

Human dermatosparaxis : a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen

Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14

Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK

An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients

Type V collagen regulates the structure and biomechanics of TMJ condylar cartilage: A fibrous-hyaline hybrid

Reply: Oral Fluoroquinolone and the Risk of Aortic Dissection

Inheritance of an RNA splicing mutation (G+1IVS20) in the type III procollagen gene (COL3Al) in a family having aortic aneurysms and easy bruisability : phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV

Wound healing-related properties detected in an experimental model with a collagen gel contraction assay are affected in the absence of tenascin-X

Ehlers-Danlos Syndrome: It’s Not Your Normal Hoofbeats

Abnormalities of collagen fibrils in a rabbit with a connective tissue defect similar to Ehlers-Danlos syndrome

Clinical and molecular overlap between myopathies and inherited connective tissue diseases

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