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Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.48-69

2017

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Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

Developmental dynamics, 2021-03, Vol.250 (3), p.318-344

2021

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The 2017 international classification of the Ehlers–Danlos syndromes

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.8-26

2017

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The evidence‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.158-167

2017

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Neurological and spinal manifestations of the Ehlers–Danlos syndromes

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.195-211

2017

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A framework for the classification of joint hypermobility and related conditions

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.148-157

2017

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Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.40-47

2017

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Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers‐Danlos syndrome at the University of Miami

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1502-1507

2023

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Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

European journal of human genetics : EJHG, 2023-07, Vol.31 (7), p.749-760

2023

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The Ehlers–Danlos syndromes, rare types

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.70-115

2017

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Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases

Gene, 2019-07, Vol.707, p.151-171

2019

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Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum

American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1583-1588

2022

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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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Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes

American Journal of Physiology: Cell Physiology, 2022-12, Vol.323 (6), p.C1843-C1859

2022

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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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Gastrointestinal disorders in joint hypermobility syndrome/Ehlers‐Danlos syndrome hypermobility type: A review for the gastroenterologist

Neurogastroenterology and motility, 2017-08, Vol.29 (8), p.n/a

2017

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Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center

Vascular medicine (London, England), 2024-06, Vol.29 (3), p.265-273

2024

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An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

Haemophilia : the official journal of the World Federation of Hemophilia, 2019-07, Vol.25 (4), p.558-566

2019

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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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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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Vascular Ehlers-Danlos syndrome with a Novel missense COL3A1 gene mutation present with bilateral spontaneous carotid-cavernous fistula: a case report

Acta neurochirurgica, 2023-12, Vol.165 (12), p.3799-3804

2023

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Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB gene

American journal of medical genetics. Part A, 2022-02, Vol.188 (2), p.618-623

2022

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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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Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

The 2017 international classification of the Ehlers–Danlos syndromes

The evidence‐based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome

Neurological and spinal manifestations of the Ehlers–Danlos syndromes

A framework for the classification of joint hypermobility and related conditions

Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers‐Danlos syndrome at the University of Miami

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

The Ehlers–Danlos syndromes, rare types

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases

Recurrent pneumothorax in a case of tenascin‐X deficient Ehlers–Danlos syndrome: Broadening the phenotypic spectrum

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

Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes

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

Gastrointestinal disorders in joint hypermobility syndrome/Ehlers‐Danlos syndrome hypermobility type: A review for the gastroenterologist

Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center

An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study

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

Vascular Ehlers-Danlos syndrome with a Novel missense COL3A1 gene mutation present with bilateral spontaneous carotid-cavernous fistula: a case report

Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB gene

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

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