Research & Literature
Last updated:
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
Visualize citation networks across 97 referenced papers
Top Authors
- Fransiska Malfait Ghent University Hospital
- Brad T. Tinkle Peyton Manning Children’s Hospital at St.Vincent
- Marco Castori Casa Sollievo della Sofferenza
- Marina Colombi University of Brescia
- Alan J. Hakim University College London
- Marco Ritelli University of Brescia
- Clair A. Francomano Indiana University School of Medicine
- Sherene Shalhub Oregon Health & Science University
- Jane Simmonds Great Ormond Street Hospital
- Raoul Engelbert Amsterdam University Medical Centers
Top Institutions
- Ghent University Hospital Ghent, Belgium Fransiska Malfait , Delfien Syx , Inge De Wandele , Lies Rombaut , Tim Van Damme , Britta Berglund , Marlies Colman , Julie De Backer , Paul Coucke , Sanne D’hondt
- University of Brescia Brescia, Italy Marina Colombi , Marco Ritelli , Nicola Chiarelli , Nicoletta Zoppi , Chiara Dordoni , Marina Venturini , Giacomo Buso , Valeria Cinquina , Giulia Carini , Gherardo Mazziotti
- Medical University of South Carolina Charleston, United States Russell A. Norris , Cortney Gensemer , Anne Maitland , Taylor Petrucci , Steven A. Kautz , Sunil J. Patel , Russell A Norris , Victoria Daylor , Daniel P. Judge , Randall Burks
- University College London London, United Kingdom Alan J. Hakim , Simon Eaton , Paul Gissen , Ruwan Weerakkody , Stuart A. Taylor , Clare Rogerson , Alex Menys , Natalia Zárate-López , James K. Ruffle , Manjit Matharu
- Casa Sollievo della Sofferenza San Giovanni Rotondo, Italy Marco Castori , Silvia Morlino , Lucia Micale , Carmela Fusco , Francesco Brancati , Vito Guarnieri , Andrea Fontana , Bartolomeo Augello , Massimo Carella , Orazio Palumbo
- University of Washington Seattle, United States Peter H. Byers , Heather C. Mefford , James M. Dittman , Kelli L. Hicks , Brian H. Shirts , Deborah J. Bowen , Liz Sage , Benjamin W. Starnes , Ulrike Schwarze , Michele Curatolo
- Innsbruck Medical University Innsbruck, Austria Ines Kapferer‐Seebacher , Johannes Zschocke , Andreas Janecke , Albert Amberger , Anna Schossig , Heinrich Strobl , Rebekka Gröbner , Heribert Stoiber , Katharina Sillaber , Birgit Krabichler
- University Children's Hospital Zurich Zurich, Switzerland Cecilia Giunta , Marianne Rohrbach , Beat Steinmann , Pei Jin Lim , Daisy Rymen , Uschi Lindert , Alexander Möller , Florian Singer
- Johns Hopkins University Baltimore, United States Peter C. Rowe , Christos Georgiades , Maria Roma , Joann Bodurtha , Andrew W. Joseph , Theda C. Kontis , Weiyi Mu , William S. Frye , Katherine Yates , David B.K. Golden
- Queen Mary University of London London, United Kingdom Qasim Aziz , Asma Fikree , Shuu‐Jiun Wang , Paul F. Vollebregt , Rubina Aktar , L. Ashley Blackshaw , Emma V. Carrington , Charles H. Knowles , Daniel Sifrim , Jung‐Woo Kang
Finding nearby institutions...
References
- 1
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
Di Stefano G, Celletti C, Baron R, et al.
European journal of pain (London, England) 2016; (20(8)):1319-25 doi:10.1002/ejp.856.
PMID: 26919608 - 2
Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder.
Gazit Y, Jacob G, Grahame R
Rambam Maimonides medical journal 2016; (7(4)) doi:10.5041/RMMJ.10261.
PMID: 27824552 - 3
Beighton scores and cut-offs across the lifespan: cross-sectional study of an Australian population.
Singh H, McKay M, Baldwin J, et al.
Rheumatology (Oxford, England) 2017; (56(11)):1857-1864 doi:10.1093/rheumatology/kex043.
PMID: 28340003 - 4
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.
Krahe AM, Adams RD, Nicholson LL
Disability and rehabilitation 2018; (40(17)):1989-1996 doi:10.1080/09638288.2017.1323022.
PMID: 28482708 - 5
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.
Ritelli M, Dordoni C, Cinquina V, et al.
Orphanet journal of rare diseases 2017; (12(1)):153 doi:10.1186/s13023-017-0704-3.
PMID: 28882145 - 6
Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review.
Frank M, Adham S, Zinzindohoué F, Jeunemaitre X
Journal of gastroenterology and hepatology 2019; (34(5)):857-863 doi:10.1111/jgh.14522.
PMID: 30357907 - 7
[Joint hypermobility: when to evoke Ehlers-Danlos syndrome]?
P Germain D
La Revue du praticien 2016; (66(4)):423-429.
PMID: 30512708 - 8
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.
Chiarelli N, Carini G, Zoppi N, et al.
PloS one 2019; (14(2)):e0211647 doi:10.1371/journal.pone.0211647.
PMID: 30716086 - 9
Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome.
Shalhub S, Neptune E, Sanchez DE, et al.
American journal of medical genetics. Part A 2019; (179(5)):797-802 doi:10.1002/ajmg.a.61094.
PMID: 30793832 - 10
Recurrent Depression and Borderline Personality Disorder in a Patient with Ehlers-Danlos Syndrome.
Espiridion ED, Daniel A, Van Allen JR
Cureus 2018; (10(12)):e3760 doi:10.7759/cureus.3760.
PMID: 30820380 - 11
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.
Cortini F, Villa C, Marinelli B, et al.
Archives of dermatological research 2019; (311(4)):265-275 doi:10.1007/s00403-019-01894-0.
PMID: 30826961 - 12
[Up-to-date classification and multidisciplinary symptoms of Ehlers-Danlos syndromes].
Ralovich FV, Kiss N, Horváth K, et al.
Orvosi hetilap 2019; (160(16)):603-612 doi:10.1556/650.2019.31351.
PMID: 30983397 - 13
Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome.
Kalisch L, Hamonet C, Bourdon C, et al.
Disability and rehabilitation 2020; (42(25)):3679-3686 doi:10.1080/09638288.2019.1608595.
PMID: 31060411 - 14
An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome.
Martin A
European journal of medical genetics 2019; (62(7)):103672 doi:10.1016/j.ejmg.2019.103672.
PMID: 31102747 - 15
Recognizing and Effectively Managing Hypermobility-Related Conditions.
Russek LN, Stott P, Simmonds J
Physical therapy 2019; (99(9)):1189-1200 doi:10.1093/ptj/pzz078.
PMID: 31158283 - 16
A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
Duong J, Rideout A, MacKay S, et al.
European journal of medical genetics 2020; (63(2)):103730 doi:10.1016/j.ejmg.2019.103730.
PMID: 31323331 - 17
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
Shalhub S, Byers PH, Hicks KL, et al.
Journal of vascular surgery 2020; (71(1)):149-157 doi:10.1016/j.jvs.2019.04.487.
PMID: 31353273 - 18
Symptom complaints and impact on functioning in youth with hypermobile Ehlers-Danlos syndrome.
Tran ST, Jagpal A, Koven ML, et al.
Journal of child health care : for professionals working with children in the hospital and community 2020; (24(3)):444-457 doi:10.1177/1367493519867174.
PMID: 31370685 - 19
Prevalence of generalized joint hypermobility, musculoskeletal injuries, and chronic musculoskeletal pain among American university students.
Reuter PR, Fichthorn KR
PeerJ 2019; (7()):e7625 doi:10.7717/peerj.7625.
PMID: 31565567 - 20
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.
Micale L, Guarnieri V, Augello B, et al.
Genes 2019; (10(12)) doi:10.3390/genes10120967.
PMID: 31775249 - 21
Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome.
Miller AJ, Stiles LE, Sheehan T, et al.
Autonomic neuroscience : basic & clinical 2020; (224()):102637 doi:10.1016/j.autneu.2020.102637.
PMID: 31954224 - 22
A review of Ehlers-Danlos syndrome.
Miller E, Grosel JM
JAAPA : official journal of the American Academy of Physician Assistants 2020; (33(4)):23-28 doi:10.1097/01.JAA.0000657160.48246.91.
PMID: 32175940 - 23
A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder.
Celletti C, Borsellino B, Castori M, et al.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace 2020; (90(2)) doi:10.4081/monaldi.2020.1286.
PMID: 32434316 - 24
Prevalence and Predictors of Gastrointestinal Dysmotility in Patients with Hypermobile Ehlers-Danlos Syndrome: A Tertiary Care Center Experience.
Alomari M, Hitawala A, Chadalavada P, et al.
Cureus 2020; (12(4)):e7881 doi:10.7759/cureus.7881.
PMID: 32489735 - 25
Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.
Gensemer C, Burks R, Kautz S, et al.
Developmental dynamics : an official publication of the American Association of Anatomists 2021; (250(3)):318-344 doi:10.1002/dvdy.220.
PMID: 32629534 - 26
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.
Ritelli M, Cinquina V, Venturini M, Colombi M
Molecular genetics & genomic medicine 2020; (8(10)):e1422 doi:10.1002/mgg3.1422.
PMID: 32720758 - 27
Immediate and 6-week after effects of a rehabilitation program for Ehlers-Danlos syndrome hypermobile type patients: A retrospective study.
Hakimi A, Bergoin C, Mucci P
American journal of medical genetics. Part A 2020; (182(10)):2263-2271 doi:10.1002/ajmg.a.61772.
PMID: 32738018 - 28
Mechanisms and management of gastrointestinal symptoms in postural orthostatic tachycardia syndrome.
Tu Y, Abell TL, Raj SR, Mar PL
Neurogastroenterology and motility 2020; (32(12)):e14031 doi:10.1111/nmo.14031.
PMID: 33140561 - 29
Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome.
Baderkhan H, Wanhainen A, Stenborg A, et al.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 2021; (61(2)):326-331 doi:10.1016/j.ejvs.2020.10.020.
PMID: 33223285 - 30
Prevalence of joint hypermobility syndromes in pediatric postural orthostatic tachycardia syndrome.
Boris JR, Bernadzikowski T
Autonomic neuroscience : basic & clinical 2021; (231()):102770 doi:10.1016/j.autneu.2020.102770.
PMID: 33388686 - 31
Intraperitoneal bladder rupture in a young child with vascular Ehlers-Danlos syndrome.
Nanduri R, Jones E, Miller-Hance W, et al.
American journal of medical genetics. Part A 2021; (185(3)):841-844 doi:10.1002/ajmg.a.62004.
PMID: 33586854 - 32
Prevalence of ADHD and Autism Spectrum Disorder in Children with Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome: A Retrospective Study.
Kindgren E, Quiñones Perez A, Knez R
Neuropsychiatric disease and treatment 2021; (17()):379-388 doi:10.2147/NDT.S290494.
PMID: 33603376 - 33
Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Martinez KL, Mauss C, Andrews J, et al.
American journal of medical genetics. Part A 2021; (185(7)):2012-2025 doi:10.1002/ajmg.a.62197.
PMID: 33826221 - 34
Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.
Yew KS, Kamps-Schmitt KA, Borge R
American family physician 2021; (103(8)):481-492.
PMID: 33856167 - 35
Chronic Low Back Pain Occurring in Association With Hypermobility Spectrum Disorder and Ehlers-Danlos Syndrome.
Eseonu KC, Payne K, Ward S, et al.
International journal of spine surgery 2021; (15(3)):449-457 doi:10.14444/8067.
PMID: 33963027 - 36
Developing a self-management intervention to manage hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS): an analysis informed by behaviour change theory.
Bennett SE, Walsh N, Moss T, Palmer S
Disability and rehabilitation 2022; (44(18)):5231-5240 doi:10.1080/09638288.2021.1933618.
PMID: 34101520 - 37
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Lorenz D, Kress W, Zaum AK, et al.
BMC pediatrics 2021; (21(1)):293 doi:10.1186/s12887-021-02767-0.
PMID: 34193099 - 38
Hypermobile Ehlers-Danlos syndrome: A review and a critical appraisal of published genetic research to date.
Scicluna K, Formosa MM, Farrugia R, Borg I
Clinical genetics 2022; (101(1)):20-31 doi:10.1111/cge.14026.
PMID: 34219226 - 39
Editorial Commentary: Diagnosis and Treatment of Generalized Joint Hypermobility in Patients With Anterior Cruciate Ligament Injury.
Sundemo D, Senorski EH, Samuelsson K
Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association 2021; (37(7)):2348-2350 doi:10.1016/j.arthro.2021.03.052.
PMID: 34226016 - 40
Diagnosis and Management of Hypermobility Spectrum Disorders in Primary Care.
Atwell K, Michael W, Dubey J, et al.
Journal of the American Board of Family Medicine : JABFM 2021; (34(4)):838-848 doi:10.3122/jabfm.2021.04.200374.
PMID: 34312277 - 41
Peripartum considerations and challenges in the management of type IV Ehlers-Danlos syndrome.
Makam H, Siddiqui F, Patwardhan A, Darbar A
BMJ case reports 2021; (14(7)) doi:10.1136/bcr-2020-239916.
PMID: 34330720 - 42
Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy.
Ruiz Maya T, Fettig V, Mehta L, et al.
American journal of medical genetics. Part A 2021; (185(12)):3754-3761 doi:10.1002/ajmg.a.62446.
PMID: 34331416 - 43
Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder.
Brock I, Prendergast W, Maitland A
American journal of medical genetics. Part C, Seminars in medical genetics 2021; (187(4)):473-481 doi:10.1002/ajmg.c.31940.
PMID: 34747107 - 44
Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.
Micale L, Fusco C, Castori M
Advances in experimental medicine and biology 2021; (1348()):207-233 doi:10.1007/978-3-030-80614-9_9.
PMID: 34807421 - 45
Initial description and evaluation of EDS ECHO: An international effort to improve care for people with the Ehlers-Danlos syndromes and hypermobility spectrum disorders.
Schubart JR, Bascom R, Francomano CA, et al.
American journal of medical genetics. Part C, Seminars in medical genetics 2021; (187(4)):609-615 doi:10.1002/ajmg.c.31960.
PMID: 34821464 - 46
Cardiovascular manifestations of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Rashed ER, Ruiz Maya T, Black J, et al.
Vascular medicine (London, England) 2022; (27(3)):283-289 doi:10.1177/1358863X211067566.
PMID: 35000503 - 47
Twin pregnancy with untyped Ehlers-Danlos syndrome requiring prompt genetic testing: A case report.
Ogawa S, Mariya T, Fujibe Y, et al.
Case reports in women's health 2022; (33()):e00384 doi:10.1016/j.crwh.2022.e00384.
PMID: 35079579 - 48
The Mystery of Ehlers-Danlos Syndrome: An Autobiographical Case Report.
Tapasak BE, Malis DJ
Cureus 2022; (14(1)):e21601 doi:10.7759/cureus.21601.
PMID: 35228959 - 49
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
Lavanya K, Mahtani K, Abbott J, et al.
American journal of medical genetics. Part A 2022; (188(7)):2192-2197 doi:10.1002/ajmg.a.62745.
PMID: 35396906 - 50
Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature.
Monaco A, Choi D, Uzun S, et al.
Immunologic research 2022; (70(4)):419-431 doi:10.1007/s12026-022-09280-1.
PMID: 35449490 - 51
The Underrecognized Conditions of Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders in Women.
Robbins K
Nursing for women's health 2022; (26(3)):174-183 doi:10.1016/j.nwh.2022.03.005.
PMID: 35533735 - 52
Home-based exercise therapy for treating shoulder instability in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. A randomized trial.
Spanhove V, De Wandele I, Malfait F, et al.
Disability and rehabilitation 2023; (45(11)):1811-1821 doi:10.1080/09638288.2022.2076932.
PMID: 35609204 - 53
Hypermobile Ehlers-Danlos syndrome and disorders of the gastrointestinal tract: What the gastroenterologist needs to know.
Thwaites PA, Gibson PR, Burgell RE
Journal of gastroenterology and hepatology 2022; (37(9)):1693-1709 doi:10.1111/jgh.15927.
PMID: 35750466 - 54
Rectal hyposensitivity: a common pathophysiological finding in patients with constipation and associated hypermobile Ehlers-Danlos syndrome.
Choudhary A, Vollebregt PF, Aziz Q, et al.
Alimentary pharmacology & therapeutics 2022; (56(5)):802-813 doi:10.1111/apt.17104.
PMID: 35758859 - 55
Rationale and Feasibility of Resistance Training in hEDS/HSD: A Narrative Review.
Zabriskie HA
Journal of functional morphology and kinesiology 2022; (7(3)) doi:10.3390/jfmk7030061.
PMID: 35997377 - 56
A Case of Early Osteoarthritis in a Patient With Ehlers-Danlos Syndrome.
Tran S, Thakkar R, Gillie M, Anderson J
Cureus 2022; (14(7)):e27069 doi:10.7759/cureus.27069.
PMID: 36000117 - 57
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.
Strang-Karlsson S, Keigwin S, Anttonen AK, et al.
Clinical case reports 2022; (10(10)):e6455 doi:10.1002/ccr3.6455.
PMID: 36245460 - 58
Endovascular Management of Vascular Complications in Ehlers-Danlos Syndrome Type IV.
Alqahtani M, Claudinot A, Gaudry M, et al.
Journal of clinical medicine 2022; (11(21)) doi:10.3390/jcm11216344.
PMID: 36362573 - 59
A case of Ehlers-Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers-Danlos syndrome.
Agrawal P, Kaur H, Kondekar A, Rathi S
Oxford medical case reports 2023; (2023(1)):omac107 doi:10.1093/omcr/omac107.
PMID: 36727144 - 60
Oral Health-Related Quality of Life in Different Subtypes of Ehlers-Danlos Syndrome.
Balke J, Bohner L, Köppe J, et al.
International journal of environmental research and public health 2023; (20(3)) doi:10.3390/ijerph20032218.
PMID: 36767586 - 61
Healthcare experiences among adults with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder in the United States.
Estrella E, Frazier PA
Disability and rehabilitation 2024; (46(4)):731-740 doi:10.1080/09638288.2023.2176554.
PMID: 36772820 - 62
The role of gene encoding collagen secretion protein (SERPINH1) in the pathogenesis of a hypermobile type of Ehlers-Danlos syndrome.
Junkiert-Czarnecka A, Pilarska-Deltow M, Bąk A, et al.
Postepy dermatologii i alergologii 2023; (40(1)):102-106 doi:10.5114/ada.2022.124107.
PMID: 36909907 - 63
Pediatric joint hypermobility: a diagnostic framework and narrative review.
Tofts LJ, Simmonds J, Schwartz SB, et al.
Orphanet journal of rare diseases 2023; (18(1)):104 doi:10.1186/s13023-023-02717-2.
PMID: 37143135 - 64
Physical therapy interventions in generalized hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome: a scoping review.
Garreth Brittain M, Flanagan S, Foreman L, Teran-Wodzinski P
Disability and rehabilitation 2024; (46(10)):1936-1953 doi:10.1080/09638288.2023.2216028.
PMID: 37231592 - 65
Placing joint hypermobility in context: traits, disorders and syndromes.
Morlino S, Castori M
British medical bulletin 2023; (147(1)):90-107 doi:10.1093/bmb/ldad013.
PMID: 37350130 - 66
Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome.
Simon R, Kiener S, Thom N, et al.
G3 (Bethesda, Md.) 2023; (13(9)) doi:10.1093/g3journal/jkad152.
PMID: 37462293 - 67
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.
Ramírez-Paesano C, Rodiera Clarens C, Sharp Segovia A, et al.
Orphanet journal of rare diseases 2023; (18(1)):214 doi:10.1186/s13023-023-02829-9.
PMID: 37491286 - 68
Vascular Injury After Scoliosis Correction in Ehlers-Danlos Syndrome: Proceed With Caution.
Prabhakar G, Gonuguntla RK, Momtaz D, et al.
Journal of the American Academy of Orthopaedic Surgeons. Global research & reviews 2023; (7(8)) doi:10.5435/JAAOSGlobal-D-23-00061.
PMID: 37581952 - 69
Hypermobility spectrum disorders: A review.
Carroll MB
Rheumatology and immunology research 2023; (4(2)):60-68 doi:10.2478/rir-2023-0010.
PMID: 37637226 - 70
Psychological interventions for individuals with Ehlers-Danlos syndrome and hypermobility spectrum disorder: a scoping review.
Song JZ, Luong D, Feldman ECH, et al.
Orphanet journal of rare diseases 2023; (18(1)):254 doi:10.1186/s13023-023-02799-y.
PMID: 37653505 - 71
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center.
Ritelli M, Chiarelli N, Cinquina V, et al.
American journal of medical genetics. Part A 2024; (194(2)):174-194 doi:10.1002/ajmg.a.63426.
PMID: 37774134 - 72
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM, Weerakkody RA, Parry DA, et al.
Journal of medical genetics 2024; (61(3)):232-238 doi:10.1136/jmg-2023-109329.
PMID: 37813462 - 73
Fear avoidance, fear of falling, and pain disability in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Chuchin JD, Ornstein TJ
Disability and rehabilitation 2024; (46(18)):4234-4245 doi:10.1080/09638288.2023.2268520.
PMID: 37843031 - 74
Generation of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene.
Höpperger S, Spathopoulou A, Mayer-Suess L, et al.
Stem cell research 2024; (75()):103321 doi:10.1016/j.scr.2024.103321.
PMID: 38301384 - 75
Interdisciplinary pain rehabilitation for patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders.
Molander P, Novo M, Ringqvist Å, et al.
Journal of rehabilitation medicine 2024; (56()):jrm12431 doi:10.2340/jrm.v56.12431.
PMID: 38323531 - 76
Management of 2-Stage Breast Reconstruction in Ehlers-Danlos Syndrome: A Case Report.
Timothy N, Patrick M, Dayicioglu D
Eplasty 2024; (24()):e5.
PMID: 38476521 - 77
Multisystem Involvement in a Pediatric Patient With Hypermobile Ehlers-Danlos Syndrome: A Case Report of the Diagnostic Complexity and Management Challenges.
Cosare MJ, Korkmaz AG, Valencia V, et al.
Cureus 2024; (16(6)):e62083 doi:10.7759/cureus.62083.
PMID: 38989334 - 78
Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers-Danlos Syndrome: Focus on Vascular Prevention.
Buso G, Corvini F, Fusco EM, et al.
Journal of clinical medicine 2024; (13(14)) doi:10.3390/jcm13144255.
PMID: 39064294 - 79
Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes.
Syx D, Malfait F
Trends in molecular medicine 2024; (30(9)):824-843 doi:10.1016/j.molmed.2024.06.001.
PMID: 39147618 - 80
An overview of Ehlers Danlos syndrome and the link between postural orthostatic tachycardia syndrome and gastrointestinal symptoms with a focus on gastroparesis.
Wu W, Ho V
Frontiers in neurology 2024; (15()):1379646 doi:10.3389/fneur.2024.1379646.
PMID: 39268060 - 81
Hypermobile Ehlers Danlos for the Primary Care Provider.
White L, Procknow SS
Missouri medicine 2024; (121(4)):289-296.
PMID: 39575079 - 82
The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series.
Angwin C, Byers P, Dulfer E, et al.
American journal of medical genetics. Part A 2025; (197(4)):e63957 doi:10.1002/ajmg.a.63957.
PMID: 39641471 - 83
Comorbidity, misdiagnoses, and the diagnostic odyssey in patients with hypermobile Ehlers-Danlos syndrome.
Halverson CME, Cao S, Perkins SM, Francomano CA
Genetics in medicine open 2023; (1(1)):100812 doi:10.1016/j.gimo.2023.100812.
PMID: 39669244 - 84
Efficacy of Irbesartan in Celiprolol-Treated Patients With Vascular Ehlers-Danlos Syndrome.
Jeunemaitre X, Mousseaux E, Frank M, et al.
Circulation 2025; (151(10)):686-695 doi:10.1161/CIRCULATIONAHA.124.072849.
PMID: 39906986 - 85
Dermal pathology in a Catahoula Leopard dog with Dermasparaxis Ehlers Danlos syndrome caused by a homozygous ADAMTS2 missense variant.
Jaffey JA, Bullock G, Katz ML
Topics in companion animal medicine 2025; (66()):100976 doi:10.1016/j.tcam.2025.100976.
PMID: 40086505 - 86
Prevalence of psychiatric and sleep disorders and their impact on quality of life in children with hypermobile Ehlers-Danlos syndrome: an observational study.
Hertel AK, Jones JT, Lytch A, et al.
Rheumatology international 2025; (45(4)):81 doi:10.1007/s00296-025-05836-0.
PMID: 40131551 - 87
The Complexities of Navigating the Healthcare System as an Autistic Individual with Ehlers-Danlos Syndrome: A Patient Perspective.
Clark S
Journal of patient experience 2025; (12()):23743735251333601 doi:10.1177/23743735251333601.
PMID: 40290734 - 88
Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.
Forghani I, See J, McGonigle WC
Genes 2025; (16(5)) doi:10.3390/genes16050530.
PMID: 40428350 - 89
Arteriovenous fistula following radial artery cannulation in a patient with vascular Ehlers-Danlos syndrome.
Gionet G, Savoie-White FH, Gegiia I, et al.
Journal of vascular surgery cases and innovative techniques 2025; (11(4)):101822 doi:10.1016/j.jvscit.2025.101822.
PMID: 40496663 - 90
Health care supply in patients with Ehlers-Danlos syndromes and generalized hypermobility spectrum disorder: a German perspective.
Rauterberg J, Hock M, Kernich N, et al.
Orphanet journal of rare diseases 2025; (20(1)):436 doi:10.1186/s13023-025-03937-4.
PMID: 40819036 - 91
Case Report: A rare presentation of vascular Ehlers-Danlos syndrome with a massive hemothorax and a chest wall hematoma.
Han B, Li S, Ye Y, et al.
Frontiers in medicine 2025; (12()):1648439 doi:10.3389/fmed.2025.1648439.
PMID: 40861200 - 92
Defining the Chronic Complexities of hEDS and HSD: A Global Survey of Diagnostic Challenges, Life-Long Comorbidities, and Unmet Needs.
Daylor V, Griggs M, Weintraub A, et al.
Journal of clinical medicine 2025; (14(16)) doi:10.3390/jcm14165636.
PMID: 40869462 - 93
Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome.
Foz Felipe D, Casas-Alba D, Sadok SH, et al.
Genes 2025; (16(8)) doi:10.3390/genes16080925.
PMID: 40869974 - 94
Heightened Revision Risk After Ankle Ligament Repair in Patients With Ehlers-Danlos Syndrome or Hypermobility Spectrum Disorder: A Propensity-Matched National Database Study.
Dinh PV, Johnson JM, Reiad TA, et al.
Foot & ankle international 2025; (46(11)):1231-1238 doi:10.1177/10711007251363246.
PMID: 40954923 - 95
Autonomic symptom burden, comorbidities and quality of life in women with Hypermobility Spectrum Disorders and hypermobile Ehlers-Danlos syndrome.
Collins Hutchinson ML, Liang E, Fuster E, Blitshteyn S
Autonomic neuroscience : basic & clinical 2025; (262()):103356 doi:10.1016/j.autneu.2025.103356.
PMID: 41118678 - 96
Challenges in the Management of Patients with Vascular Ehlers-Danlos Syndrome: Lessons from three Clinical Cases.
Alayasa L, Fiala R, Skafi A, et al.
European journal of case reports in internal medicine 2025; (12(12)):005837 doi:10.12890/2025_005837.
PMID: 41377782 - 97
Health-Related Quality of Life in Midlife and Older Women With Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders.
Anderson LK
Nursing for women's health 2026; doi:10.1016/j.nwh.2025.09.006.
PMID: 41587761