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Spinal manifestations of Ehlers-Danlos syndrome: a scoping review

Journal of neurosurgery. Spine, 2022-12, Vol.37 (6), p.783-793

2022

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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports

Clinical and Experimental Rheumatology, 2022-05, Vol.40 Suppl 134 (5), p.46-62

2022

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Physician- and patient-reported dermatologic comorbidities of hypermobile Ehlers-Danlos syndrome

Journal of the American Academy of Dermatology, 2024-04, Vol.90 (4), p.824-826

2024

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Endoplasmic reticulum stress and collagenous formation anomalies in vascular‐type Ehlers–Danlos syndrome via electron microscopy

Journal of dermatology, 2021-04, Vol.48 (4), p.481-485

2021

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Audit of Gastrointestinal Manifestations in Patients with Loeys–Dietz Syndrome and Vascular Ehlers–Danlos Syndrome

Digestive diseases and sciences, 2021-04, Vol.66 (4), p.1142-1152

2021

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Ehlers–Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database

Journal of dermatology, 2021-12, Vol.48 (12), p.1918-1922

2021

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A Rare Cause of Epigastric Pain: Splenic Artery Dissection and Pseudoaneurysm of Celiac Trunk in the Ehlers–Danlos Syndrome Type IV

Digestive diseases and sciences, 2022-08, Vol.67 (8), p.4258-4260

2022

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Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency

Journal of dermatology, 2015-05, Vol.42 (5), p.511-514

2015

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Novel gross deletion mutation c.‐105_4042+498del in the TNXB gene in a Japanese woman with classical‐like Ehlers–Danlos syndrome: A case of uneventful pregnancy and delivery

Journal of dermatology, 2021-05, Vol.48 (5), p.e227-e228

2021

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CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions

American journal of roentgenology (1976), 2014-05, Vol.202 (5), p.1120-1129

2014

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Vascular Ehlers–Danlos syndrome patient with a novel COL3A1 gene deletion mutation without alteration in the triple sequence of (Gly‐X‐Y) repeat

Journal of dermatology, 2020-11, Vol.47 (11), p.e390-e391

2020

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Longitudinal Changes in Segmental Aortic Stiffness Determined by Cardiac Magnetic Resonance in Children and Young Adults With Connective Tissue Disorders (the Marfan, Loeys-Dietz, and Ehlers-Danlos Syndromes, and Nonspecific Connective Tissue Disorders)

The American journal of cardiology, 2017-10, Vol.120 (7), p.1214-1219

2017

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Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study

Neurosurgery, 2004-01, Vol.54 (1), p.65-71

2004

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Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue

Journal of neurosurgery. Spine, 2007-12, Vol.7 (6), p.601-609

2007

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Novel COL5A1 mutation in a Chinese family with classic type of Ehlers–Danlos syndrome

Journal of dermatology, 2018-03, Vol.45 (3), p.370-371

2018

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Sudden and Unexpected Death in Three Cases of Ehlers‐Danlos Syndrome Type IV

Journal of forensic sciences, 2010-11, Vol.55 (6), p.1641-1645

2010

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Outcomes of Total Knee Arthroplasty in Patients Who Have Ehlers-Danlos Syndrome: A Matched Cohort Study

The Journal of arthroplasty, 2024-11, Vol.39 (11), p.2755-2760

2024

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The Impact of a Group Telemedicine Program for Chronic Disease: A Retrospective Cohort Survey Study on Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder

Telemedicine journal and e-health, 2023-02, Vol.29 (2), p.261-269

2023

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A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R

Journal of dermatology, 2022-07, Vol.49 (7), p.714-718

2022

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Hypermobility, the Ehlers-Danlos syndromes and chronic pain

Clinical and experimental rheumatology, 2017-09, Vol.35 Suppl 107 (5), p.116

2017

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Some wounds are hard to heal: an interesting presentation of Ehlers-Danlos syndrome

Journal of wound care, 2012-05, Vol.21 (5), p.223-226

2012

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A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations

Journal of pediatric surgery, 2006-08, Vol.41 (8), p.e27-e30

2006

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Outcomes of Primary Total Knee Arthroplasty in Patients With Ehlers-Danlos Syndromes

The Journal of arthroplasty, 2019-02, Vol.34 (2), p.315-318

2019

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Genetic and Metabolic Conditions

The Pediatric clinics of North America, 2020-02, Vol.67 (1), p.23-43

2020

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Ehlers-Danlos syndrome and wound healing: injury in a collagen disorder

British journal of nursing (Mark Allen Publishing), 2011-03, Vol.20 (6), p.S10, S12, S14 Passim-S20

2011

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Spinal manifestations of Ehlers-Danlos syndrome: a scoping review

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports

Physician- and patient-reported dermatologic comorbidities of hypermobile Ehlers-Danlos syndrome

Endoplasmic reticulum stress and collagenous formation anomalies in vascular‐type Ehlers–Danlos syndrome via electron microscopy

Audit of Gastrointestinal Manifestations in Patients with Loeys–Dietz Syndrome and Vascular Ehlers–Danlos Syndrome

Ehlers–Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database

A Rare Cause of Epigastric Pain: Splenic Artery Dissection and Pseudoaneurysm of Celiac Trunk in the Ehlers–Danlos Syndrome Type IV

Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency

Novel gross deletion mutation c.‐105_4042+498del in the TNXB gene in a Japanese woman with classical‐like Ehlers–Danlos syndrome: A case of uneventful pregnancy and delivery

CT angiographic evaluation of genetic vascular disease: role in detection, staging, and management of complex vascular pathologic conditions

Vascular Ehlers–Danlos syndrome patient with a novel COL3A1 gene deletion mutation without alteration in the triple sequence of (Gly‐X‐Y) repeat

Longitudinal Changes in Segmental Aortic Stiffness Determined by Cardiac Magnetic Resonance in Children and Young Adults With Connective Tissue Disorders (the Marfan, Loeys-Dietz, and Ehlers-Danlos Syndromes, and Nonspecific Connective Tissue Disorders)

Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study

Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue

Novel COL5A1 mutation in a Chinese family with classic type of Ehlers–Danlos syndrome

Sudden and Unexpected Death in Three Cases of Ehlers‐Danlos Syndrome Type IV

Outcomes of Total Knee Arthroplasty in Patients Who Have Ehlers-Danlos Syndrome: A Matched Cohort Study

The Impact of a Group Telemedicine Program for Chronic Disease: A Retrospective Cohort Survey Study on Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder

A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R

Hypermobility, the Ehlers-Danlos syndromes and chronic pain

Some wounds are hard to heal: an interesting presentation of Ehlers-Danlos syndrome

A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations

Outcomes of Primary Total Knee Arthroplasty in Patients With Ehlers-Danlos Syndromes

Genetic and Metabolic Conditions

Ehlers-Danlos syndrome and wound healing: injury in a collagen disorder

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