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The following term was not found in PubMed: Beasley-Cohen
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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.
Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H. Tinkle B, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):48-69. doi: 10.1002/ajmg.c.31538. Epub 2017 Feb 1. Am J Med Genet C Semin Med Genet. 2017. PMID: 28145611 Review.
The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. ...The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize t …
The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connectiv …
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. Garreth Brittain M, et al. Disabil Rehabil. 2024 May;46(10):1936-1953. doi: 10.1080/09638288.2023.2216028. Epub 2023 May 25. Disabil Rehabil. 2024. PMID: 37231592 Review.
PURPOSE: Physical therapy (PT) plays a central role in treating individuals with Generalized Hypermobility Spectrum Disorder (G-HSD) and Hypermobile Ehlers-Danlos Syndrome (hEDS). However, there is limited research describing these individuals' PT management. …
PURPOSE: Physical therapy (PT) plays a central role in treating individuals with Generalized Hypermobility Spectrum Disorder (G-HSD) and Hyp …
The Ehlers-Danlos syndromes.
Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. Malfait F, et al. Nat Rev Dis Primers. 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9. Nat Rev Dis Primers. 2020. PMID: 32732924 Review.
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common features including joint hypermobility, soft and hyperextensible skin, abnormal wound healing and easy bruising. ...No specific medical or genetic t …
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common features …
Physical therapy treatment of hypermobile Ehlers-Danlos syndrome: A systematic review.
Reychler G, De Backer MM, Piraux E, Poncin W, Caty G. Reychler G, et al. Am J Med Genet A. 2021 Oct;185(10):2986-2994. doi: 10.1002/ajmg.a.62393. Epub 2021 Jun 19. Am J Med Genet A. 2021. PMID: 34145717
Physiotherapy techniques are regularly prescribed in the hypermobile type Ehlers-Danlos syndrome (hEDS) and they are appreciated by the patients. The objective of this systematic review was to investigate the effect of the different physiotherapy techn …
Physiotherapy techniques are regularly prescribed in the hypermobile type Ehlers-Danlos syndrome (hEDS) and they …
Genetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos Syndrome.
Asta L, D'Angelo GA, Marinelli D, Benedetto U. Asta L, et al. Int J Environ Res Public Health. 2023 Aug 20;20(16):6615. doi: 10.3390/ijerph20166615. Int J Environ Res Public Health. 2023. PMID: 37623198 Free PMC article. Review.
As a consequence, the main syndromes currently identified as Marfan, Loeys-Dietz, and vascular Ehlers-Danlos are characterized by a complex clinical picture. In this contribution, we provide an overview of the genetic mutations currently identified in order to have …
As a consequence, the main syndromes currently identified as Marfan, Loeys-Dietz, and vascular Ehlers-Danlos are characterized …
Ehlers-Danlos syndrome, classical type.
Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Bowen JM, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39. doi: 10.1002/ajmg.c.31548. Epub 2017 Feb 13. Am J Med Genet C Semin Med Genet. 2017. PMID: 28192633 Free article. Review.
Previous question marks over genetic heterogeneity have been largely surpassed by evidence that abnormalities in type V collagen are the cause. Advances in molecular testing have made it possible to identify the causative mutation in the majority of patients. ...
Previous question marks over genetic heterogeneity have been largely surpassed by evidence that abnormalities in type V collagen are …
[Joint hypermobility syndrome].
Carbonell-Bobadilla N, Rodríguez-Álvarez AA, Rojas-García G, Barragán-Garfias JA, Orrantia-Vertiz M, Rodríguez-Romo R. Carbonell-Bobadilla N, et al. Acta Ortop Mex. 2020 Nov-Dec;34(6):441-449. Acta Ortop Mex. 2020. PMID: 34020527 Free article. Review. Spanish.
To diagnose hypermobility syndrome, Brighton's criteria are generally accepted and published in 1998. This criteria also known as benign joint hypermobility syndrome. The term benign is used to distinguish it from other more severe conditions such as Ehler-Danlos
To diagnose hypermobility syndrome, Brighton's criteria are generally accepted and published in 1998. This criteria also known as ben …
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
Malfait F, Wenstrup RJ, De Paepe A. Malfait F, et al. Genet Med. 2010 Oct;12(10):597-605. doi: 10.1097/GIM.0b013e3181eed412. Genet Med. 2010. PMID: 20847697 Free article. Review.
It comprises Ehlers-Danlos syndrome type I and Ehlers-Danlos syndrome type II, but it is now apparent that these form a continuum of clinical findings and differ only in phenotypic severity. ...No treatment for the underlyin …
It comprises Ehlers-Danlos syndrome type I and Ehlers-Danlos syndrome type II, but i …
Loeys-Dietz syndrome.
Van Laer L, Dietz H, Loeys B. Van Laer L, et al. Adv Exp Med Biol. 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. Adv Exp Med Biol. 2014. PMID: 24443023 Review.
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. ...
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. ...
Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.
Kuivaniemi H, Tromp G. Kuivaniemi H, et al. Gene. 2019 Jul 30;707:151-171. doi: 10.1016/j.gene.2019.05.003. Epub 2019 May 7. Gene. 2019. PMID: 31075413 Free PMC article. Review.
Mutations in the COL3A1 gene cause the vascular type of Ehlers-Danlos syndrome (vEDS; OMIM 130050). It is the most serious form of EDS, since patients often die suddenly due to a rupture of large arteries. ...Other clinical conditions associated with …
Mutations in the COL3A1 gene cause the vascular type of Ehlers-Danlos syndrome (vEDS; OMIM 130050). It is the mo …
293 results