Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene by Amit Manhas, Dipti Tripathi, Chikage Noishiki, David Wu, Lu Liu, Karim Sallam, Jason T. Lee, Eri Fukaya, Nazish Sayed

Subjects: “…vascular Ehlers-Danlos Syndrome…”
Get full text

Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature by Tomomi Yamaguchi, Tomomi Yamaguchi, Tomomi Yamaguchi, Shujiro Hayashi, So Nagai, So Nagai, Akihiko Uchiyama, Sei-Ichiro Motegi, Tomomi Fujikawa, Yuri Takiguchi, Tomoki Kosho, Tomoki Kosho, Tomoki Kosho, Tomoki Kosho

Subjects: “…Ehlers-Danlos Syndrome…”
Get full text

Cervicoplastia na flacidez cutânea por síndrome de Ehlers-Danlos: relato de caso Cervicoplasty in cutaneous laxity from Ehlers-Danlos syndrome: a case report by Márcio Rocha Crisóstomo, Victor José Timbó Gondim, André Nunes Benevides, Mara Rocha Crisóstomo, Salustiano Gomes de Pinho Pessoa

Subjects: Get full text

Sudden onset of artery dissection in a 32-year-old woman with vascular Ehlers-Danlos syndrome due to psychological stress of her mother’s death: a case series by Yuichiro Shimoyama, Osamu Umegaki, Tomoyuki Agui, Noriko Kadono, Toshiaki Minami

Subjects: “…Vascular Ehlers-Danlos syndrome…”
Get full text

Treatment of Severe Emotionally Unstable Personality Disorder with Comorbid Ehlers-Danlos Syndrome and Functional Neurological Disorder in an Inpatient Setting: A Case for Specialist Units without Restrictive Interventions by Jessica Henry, Eddie Collins, Amanda Griffin, Jorge Zimbron

“…She was also diagnosed with Ehlers-Danlos Syndrome and Functional Neurological Disorder, manifesting as nonepileptic seizures and immobility. …”
Get full text

A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder by Malika Foy, Philippe De Mazancourt, Corinne Métay, Robert Carlier, Valérie Allamand, Corine Gartioux, Fabrice Gillas, Nawel Miri, Valérie Jobic, Ahmed Mekki, Pascale Richard, Caroline Michot, Karelle Benistan

Subjects: Get full text

Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target? by Nicola Chiarelli, Nicoletta Zoppi, Marina Venturini, Daniele Capitanio, Cecilia Gelfi, Marco Ritelli, Marina Colombi

Subjects: Get full text

Pediatric joint hypermobility: a diagnostic framework and narrative review by Louise Jane Tofts, Jane Simmonds, Sarah B. Schwartz, Roberto M. Richheimer, Constance O’Connor, Ellen Elias, Raoul Engelbert, Katie Cleary, Brad T. Tinkle, Antonie D. Kline, Alan J. Hakim, Marion A. J. van Rossum, Verity Pacey

Subjects: Get full text

Corrigendum to “Cataldo E, Cinquantini F, Priola AM, et al. Spontaneous renal artery dissection in Ehler–Danlos syndrome.” Kidney Int Rep. 2019;4:1649–1652

Get full text

Case report: Mild phenotype of a patient with vascular Ehlers–Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence by Shujiro Hayashi, Tomomi Yamaguchi, Tomomi Yamaguchi, Tomomi Yamaguchi, Tomoki Kosho, Tomoki Kosho, Tomoki Kosho, Tomoki Kosho, Ken Igawa

Subjects: “…Vascular Ehlers–Danlos syndrome…”
Get full text

Erratum to “Management of shoulder instability in hypermobility-type Ehlers-Danlos syndrome” [2021;1:155-164; https://doi.org/10.1016/j.xrrt.2021.03.002]

Get full text

Idiopathic osteoporosis, Ehlers–Danlos syndrome, postural orthostatic tachycardia syndrome, and mast cell activation disorder in a 27‐year‐old male patient: A unique case presentation by Cameron Rattray

Subjects: “…Ehlers–Danlos syndrome…”
Get full text

Automated, Vision-Based Goniometry and Range of Motion Calculation in Individuals With Suspected Ehlers-Danlos Syndromes/Generalized Hypermobility Spectrum Disorders: A Comparison of Pose-Estimation Libraries to Goniometric Measurements by Andrea Sabo, Nimish Mittal, Amol Deshpande, Hance Clarke, Babak Taati

“…Generalized joint hypermobility (GJH) often leads clinicians to suspect a diagnosis of Ehlers Danlos Syndrome (EDS), but it can be difficult to objectively assess. …”
Get full text

Multi‐exon COL5A1 deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism by Sonja Strang‐Karlsson, Sylvia Keigwin, Anna‐Kaisa Anttonen, Duncan Baker, Kerry Bean, Eveliina Jakkula

Subjects: Get full text

Endovascular repair of a common iliac artery aneurysm with an iliac branch device in a patient with vascular Ehlers-Danlos syndrome due to a null COL3A1 variant by Sherene Shalhub, MD, MPH, FACS, Peter H. Byers, MD

Subjects: Get full text

Perioperative opioid-minimization approach as a useful protocol in the management of patients with Ehlers–Danlos syndrome-hypermobility type, craniocervical instability and severe chronic pain who are to undergo occipito-cervical fixation by Carlos Ramírez-Paesano, Claudia Rodiera Clarens, Allan Sharp Segovia, Alan Coila Bustinza, Josep Rodiera Olive, Albert Juanola Galceran

“…Abstract Patients suffering from connective tissue disorders like Ehlers–Danlos syndrome hypermobility type/joint hypermobility syndrome (EDS-HT/JHS) may be affected by craniocervical instability (CCI). …”
Get full text

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms by Marco Ritelli, Nicola Chiarelli, Valeria Cinquina, Nicoletta Zoppi, Valeria Bertini, Marina Venturini, Marina Colombi

Subjects: Get full text

Arabic translation, cultural adaptation, and validation of the Bristol Impact of Hypermobility questionnaire by Najla Alsiri, Meshal Alhadhoud, Asma Alhumaid, Shea Palmer

Subjects: Get full text

Early intestinal perforation secondary to congenital mesenteric defects by Ingrid Anne Mandy Schierz, Mario Giuffrè, Mariaserena Lo Presti, Giuseppa Pinello, Cinzia Chiaramonte, Enrica Maria Agosta Cecala, Giovanni Corsello

Subjects: Get full text

POTS and Pregnancy: A Review of Literature and Recommendations for Evaluation and Treatment by Morgan K, Smith A, Blitshteyn S

Subjects: Get full text