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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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Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.484-492

2020

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Urogenital and pelvic complications in the Ehlers‐Danlos syndromes and associated hypermobility spectrum disorders: A scoping review

Clinical genetics, 2020-01, Vol.97 (1), p.168-178

2020

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Longitudinal analysis of symptoms in the Ehlers‐Danlos syndromes

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1204-1213

2022

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A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers‐Danlos syndrome: A case report and literature review

Neuropathology and applied neurobiology, 2024-08, Vol.50 (4), p.e13004-n/a

2024

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Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology

Clinical genetics, 2020-02, Vol.97 (2), p.287-295

2020

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Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients

Clinical genetics, 2017-12, Vol.92 (6), p.624-631

2017

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Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome

American journal of medical genetics. Part A, 2019-05, Vol.179 (5), p.797-802

2019

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Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.561-569

2019

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Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2012-2025

2021

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Symptoms of postural orthostatic tachycardia syndrome in pregnancy: a cross‐sectional, community‐based survey

BJOG : an international journal of obstetrics and gynaecology, 2023-08, Vol.130 (9), p.1120-1127

2023

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Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers–Danlos syndrome

Seminars in arthritis and rheumatism, 2014-08, Vol.44 (1), p.93-100

2014

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Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.994-1007

2020

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Generalized Hyperalgesia in Children and Adults Diagnosed With Hypermobility Syndrome and Ehlers‐Danlos Syndrome Hypermobility Type: A Discriminative Analysis

Arthritis care & research (2010), 2017-03, Vol.69 (3), p.421-429

2017

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Vascular Ehlers‐Danlos syndrome and pregnancy: A systematic review

BJOG : an international journal of obstetrics and gynaecology, 2024-11, Vol.131 (12), p.1620-1629

2024

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Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3010-3020

2014

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Low prevalence of positive hydrogen breath tests in patients with functional gastrointestinal conditions and hypermobile Ehlers–Danlos syndrome

Neurogastroenterology and motility, 2023-09, Vol.35 (9), p.e14570-n/a

2023

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Hypermobility spectrum disorders and active migraine in Israeli adolescents: A nationwide study

Headache, 2023-07, Vol.63 (7), p.934-941

2023

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Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant

Clinical genetics, 2020-02, Vol.97 (2), p.357-361

2020

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Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

Human mutation, 2015-05, Vol.36 (5), p.535-547

2015

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Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.37-51

2023

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Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

Clinical genetics, 2017-03, Vol.91 (3), p.411-425

2017

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Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3754-3761

2021

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Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2981-2988

2013

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Pain and fatigue in adults with Loeys–Dietz syndrome and vascular Ehlers–Danlos syndrome, a questionnaire‐based study

American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2605-2616

2022

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

Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review

Urogenital and pelvic complications in the Ehlers‐Danlos syndromes and associated hypermobility spectrum disorders: A scoping review

Longitudinal analysis of symptoms in the Ehlers‐Danlos syndromes

A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers‐Danlos syndrome: A case report and literature review

Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients

Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome

Factors affecting quality of life in children and adolescents with hypermobile Ehlers‐Danlos syndrome/hypermobility spectrum disorders

Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

Symptoms of postural orthostatic tachycardia syndrome in pregnancy: a cross‐sectional, community‐based survey

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers–Danlos syndrome

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

Generalized Hyperalgesia in Children and Adults Diagnosed With Hypermobility Syndrome and Ehlers‐Danlos Syndrome Hypermobility Type: A Discriminative Analysis

Vascular Ehlers‐Danlos syndrome and pregnancy: A systematic review

Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees

Low prevalence of positive hydrogen breath tests in patients with functional gastrointestinal conditions and hypermobile Ehlers–Danlos syndrome

Hypermobility spectrum disorders and active migraine in Israeli adolescents: A nationwide study

Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant

Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

Dysautonomia in hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy

Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience

Pain and fatigue in adults with Loeys–Dietz syndrome and vascular Ehlers–Danlos syndrome, a questionnaire‐based study

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