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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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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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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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Laryngological Complaint Prevalence in Hypermobile Ehlers‐Danlos or Hypermobility Spectrum Disorders

The Laryngoscope, 2024-02, Vol.134 (2), p.773-778

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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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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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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Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date

Clinical genetics, 2022-01, Vol.101 (1), p.20-31

2022

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Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines

Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.194-194, Article 194

2024

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Ehlers–Danlos syndrome, classical type

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.27-39

2017

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Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center

American journal of medical genetics. Part A, 2024-02, Vol.194 (2), p.174-194

2024

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Skin biopsy reveals generalized small fibre neuropathy in hypermobile Ehlers–Danlos syndromes

European journal of neurology, 2023-03, Vol.30 (3), p.719-728

2023

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Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease

Critical reviews in biochemistry and molecular biology, 2017-02, Vol.52 (1), p.74-95

2017

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Chronic fatigue in Ehlers–Danlos syndrome—Hypermobile type

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.175-180

2017

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Cardiovascular autonomic dysfunction in Ehlers–Danlos syndrome—Hypermobile type

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.168-174

2017

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Disability in Adolescents and Adults Diagnosed With Hypermobility-Related Disorders: A Meta-Analysis

Archives of physical medicine and rehabilitation, 2016-12, Vol.97 (12), p.2174-2187

2016

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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

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

Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes

Laryngological Complaint Prevalence in Hypermobile Ehlers‐Danlos or Hypermobility Spectrum Disorders

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

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

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

Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date

Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines

Ehlers–Danlos syndrome, classical type

Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center

Skin biopsy reveals generalized small fibre neuropathy in hypermobile Ehlers–Danlos syndromes

Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease

Chronic fatigue in Ehlers–Danlos syndrome—Hypermobile type

Cardiovascular autonomic dysfunction in Ehlers–Danlos syndrome—Hypermobile type

Disability in Adolescents and Adults Diagnosed With Hypermobility-Related Disorders: A Meta-Analysis

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