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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. ...In the majority of patients wi …
It comprises Ehlers-Danlos syndrome type I and Ehlers-Danlos syndrome type II, but i …
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.
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. ...Since 1997, there have been major advances in the molecular unde
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, a
[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 …
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M. Colombi M, et al. Am J Med Genet C Semin Med Genet. 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. Am J Med Genet C Semin Med Genet. 2015. PMID: 25821090 Review.
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. ...In this review, we revise the …
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and pr …
Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review.
Joseph AW, Joseph SS, Francomano CA, Kontis TC. Joseph AW, et al. JAMA Facial Plast Surg. 2018 Jan 1;20(1):70-75. doi: 10.1001/jamafacial.2017.0793. JAMA Facial Plast Surg. 2018. PMID: 29121166 Review.
IMPORTANCE: Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders. ...A total of 37 publications (including reviews and case series) were included. Ehlers-Danlos syndromes are more common than appreciated, with an overall …
IMPORTANCE: Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders. ...A total of 37 publications …
The Ehlers-Danlos syndrome, a disorder with many faces.
De Paepe A, Malfait F. De Paepe A, et al. Clin Genet. 2012 Jul;82(1):1-11. doi: 10.1111/j.1399-0004.2012.01858.x. Epub 2012 Mar 15. Clin Genet. 2012. PMID: 22353005 Review.
The Ehlers-Danlos syndromes (EDSs) comprise a heterogeneous group of diseases, characterized by fragility of the soft connective tissues and widespread manifestations in skin, ligaments, joints, blood vessels and internal organs. ...The current Villefranche classifi …
The Ehlers-Danlos syndromes (EDSs) comprise a heterogeneous group of diseases, characterized by fragility of the soft connecti …
Ehlers-Danlos syndromes and Marfan syndrome.
Callewaert B, Malfait F, Loeys B, De Paepe A. Callewaert B, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):165-89. doi: 10.1016/j.berh.2007.12.005. Best Pract Res Clin Rheumatol. 2008. PMID: 18328988 Review.
Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders that primarily affect the soft connective tissues. ...Mutations in genes encoding fibrillar collagens or collagen-modifying enzymes have been identified in most forms of EDS,
Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders that primarily affect the soft conn
Classic Ehlers-Danlos syndrome: case report and brief review of literature.
Morais P, Ferreira O, Magina S, Silva C, Leão M, Maia A, Azevedo F. Morais P, et al. Acta Dermatovenerol Croat. 2013;21(2):118-22. Acta Dermatovenerol Croat. 2013. PMID: 24001420 Review.
However, the presence of skin hyperextensibility, generalized joint hypermobility, atrophic and "cigarette paper" scars, pes planus, piezogenic pedal papules, and similar clinical picture in the mother, maternal uncle and grandfather suggested a diagnosis of Ehlers-Danl
However, the presence of skin hyperextensibility, generalized joint hypermobility, atrophic and "cigarette paper" scars, pes planus, piezoge …
Biomarkers for Ehlers-Danlos Syndromes: There Is a Role?
Caliogna L, Guerrieri V, Annunziata S, Bina V, Brancato AM, Castelli A, Jannelli E, Ivone A, Grassi FA, Mosconi M, Pasta G. Caliogna L, et al. Int J Mol Sci. 2021 Sep 20;22(18):10149. doi: 10.3390/ijms221810149. Int J Mol Sci. 2021. PMID: 34576312 Free PMC article. Review.
Ehlers-Danlos syndromes (EDS) are an inherited heterogeneous group of connective tissue disorders characterized by an abnormal collagen synthesis affecting skin, ligaments, joints, blood vessels, and other organs. ...Currently, there are many genetic and molecular s
Ehlers-Danlos syndromes (EDS) are an inherited heterogeneous group of connective tissue disorders characterized by an abnormal
[Ehlers-Danlos syndrome--diagnosis and subclassification].
Rand-Hendriksen S, Wekre LL, Paus B. Rand-Hendriksen S, et al. Tidsskr Nor Laegeforen. 2006 Aug 10;126(15):1903-7. Tidsskr Nor Laegeforen. 2006. PMID: 16915311 Free article. Review. Norwegian.
BACKGROUND: Ehlers-Danlos syndrome is the most frequent heritable connective tissue disorder, and a differential diagnosis to known disorders of the muscle and skeletal system. ...MATERIAL AND METHOD: This review and discussion is based on articles identified …
BACKGROUND: Ehlers-Danlos syndrome is the most frequent heritable connective tissue disorder, and a differential diagno …
30 results