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Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers–Danlos syndrome
Published 2024-03-01Subjects: “…vascular Ehlers–Danlos syndrome…”
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Reverse-namaskar: A new sign in <i><i><i>Ehlers-Danlos syndrome</i></i></i>: A family pedigree study of four generations
Published 2010-01-01Subjects: “…Ehlers-Danlos syndrome…”
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366
Hypersensitivity of myelinated A-fibers via toll-like receptor 5 promotes mechanical allodynia in tenascin-X-deficient mice associated with Ehlers–Danlos syndrome
Published 2023-10-01“…Abstract Deficiency of an extracellular matrix glycoprotein tenascin-X (TNX) leads to a human heritable disorder Ehlers–Danlos syndrome, and TNX-deficient patients complain of chronic joint pain, myalgia, paresthesia, and axonal polyneuropathy. …”
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367
Tracking changes in autonomic function by coupled analysis of wavelet-based dispersion of heart rate variability and gastrointestinal symptom severity in individuals with hypermobile Ehlers–Danlos syndrome
Published 2025-01-01Subjects: “…Ehlers–Danlos syndrome…”
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368
Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation
Published 2020-12-01Subjects: Get full text
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369
The Effectiveness of Conservative Interventions on Pain, Function, and Quality of Life in Adults with Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders and Shoulder Symptoms: A Systematic Review
Published 2024-09-01“…Objective: To synthesize the evidence on conservative interventions for shoulder symptoms in hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorder (HSD). …”
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370
Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases [version 1; peer review: 2 approved]
Published 2021-06-01“…This study deals with a rare (orphan) monogenic connective tissue disorder - Ehlers-Danlos syndrome kyphoscoliotic type 2 (EDSKS2). Kyphoscoliotic type 2 Ehlers-Danlos syndrome is an autosomal recessive disorder caused by mutations in the FKBP14 gene (7p14.3), which encodes the FKBP22 protein. …”
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371
The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital
Published 2021-08-01Subjects: “…Ehlers Danlos Syndrome…”
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372
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers‐Danlos syndrome
Published 2023-09-01Subjects: Get full text
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Endovascular treatment of the patient with vascular type of Ehlers–Danlos syndrome with bilateral dissection stenoses and aneurysms in V3- andV4- segments of vertebral arteries
Published 2018-12-01Subjects: “…Ehlers–Danlos syndrome, vertebral arteries, dissection damage, stenosis, aneurysm, endovascular treatment, aneurysm embolization, stenting…”
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375
Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II).
Published 1995“…Ehlers-Danlos syndrome (EDS) is a group of heritable disorders of connective tissue with skin, ligaments and blood vessels being the main sites affected. …”
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Vascular Ehlers‐Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report)
Published 2024-02-01Subjects: Get full text
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377
Intraabdominal Hemorrhage Due to Spontaneous Rupture of Superior Mesenteric Artery
Published 2014-04-01Subjects: Get full text
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378
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Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report
Published 2025-02-01Subjects: “…Musculocontractural Ehlers-Danlos syndrome…”
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380
Progress in Clinical Diagnosis and Management of Hypermobility Spectrum Disorders
Published 2023-10-01Subjects: Get full text
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