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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. Fourteen different types of EDS are …
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common features including joi …
Prevalence and quality of temporomandibular disorders, chronic pain and psychological distress in patients with classical and hypermobile Ehlers-Danlos syndrome: an exploratory study.
Willich L, Bohner L, Köppe J, Jackowski J, Hanisch M, Oelerich O. Willich L, et al. Orphanet J Rare Dis. 2023 Sep 19;18(1):294. doi: 10.1186/s13023-023-02877-1. Orphanet J Rare Dis. 2023. PMID: 37726791 Free PMC article.
BACKGROUND: The Ehlers-Danlos syndromes are a group of clinically and genetically heterogeneous hereditary diseases affecting the connective tissue. They are characterized by hypermobility of the joints, hyperextensible skin and friable tissue. According to current …
BACKGROUND: The Ehlers-Danlos syndromes are a group of clinically and genetically heterogeneous hereditary diseases affecting the connective …
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.
Damseh N, Dupuis L, O'Connor C, Oh RY, Wang YW, Stavropoulos DJ, Schwartz SB, Mendoza-Londono R. Damseh N, et al. Am J Med Genet A. 2022 May;188(5):1376-1383. doi: 10.1002/ajmg.a.62672. Epub 2022 Feb 6. Am J Med Genet A. 2022. PMID: 35128800
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by hyperextensible skin, hypermobile joints, easy bruisability, and fragility of the connective tissues. ...
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by hyperextensible skin, hy …
Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.
Micale L, Fusco C, Castori M. Micale L, et al. Adv Exp Med Biol. 2021;1348:207-233. doi: 10.1007/978-3-030-80614-9_9. Adv Exp Med Biol. 2021. PMID: 34807421
Ehlers-Danlos syndrome is an umbrella term for a clinically and genetically heterogeneous group of hereditary soft connective tissue disorders mainly featuring abnormal cutaneous texture (doughy/velvety, soft, thin, and/or variably hyperextensible skin), easy bruisi …
Ehlers-Danlos syndrome is an umbrella term for a clinically and genetically heterogeneous group of hereditary soft connective tissue disorde …
Rare inflammatory and hereditary connective tissue diseases.
Klipple GL, Riordan KK. Klipple GL, et al. Rheum Dis Clin North Am. 1989 May;15(2):383-98. Rheum Dis Clin North Am. 1989. PMID: 2567043 Review.
The EDS patient is subject to a wide range of gestational complications resulting from the basic connective tissue defect manifested clinically by hyperextensible skin, joint hypermobility, connective tissue and vascular fragility, and poor wound healing. ...
The EDS patient is subject to a wide range of gestational complications resulting from the basic connective tissue defect manifested clinica …
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.
Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, De Paepe A, Malfait F. Syx D, et al. Hum Mol Genet. 2019 Jun 1;28(11):1853-1864. doi: 10.1093/hmg/ddz024. Hum Mol Genet. 2019. PMID: 30668708
Recently, bi-allelic loss-of-function mutations in the adipocyte enhancer-binding protein 1 (AEBP1) gene were reported in three families with an autosomal recessive EDS-like condition characterized by thin and hyperextensible skin, poor wound healing with prominent …
Recently, bi-allelic loss-of-function mutations in the adipocyte enhancer-binding protein 1 (AEBP1) gene were reported in three families wit …
Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL. Mihalic Mosher T, et al. Eur J Hum Genet. 2019 Oct;27(10):1569-1577. doi: 10.1038/s41431-019-0464-8. Epub 2019 Jul 5. Eur J Hum Genet. 2019. PMID: 31278392 Free PMC article.
Disease manifests with skeletal and connective tissue features, including short stature, hyperextensible skin, and joint hypermobility. We report a family with three affected pregnancies showing short limbs, cystic hygroma, and perinatal death. ...
Disease manifests with skeletal and connective tissue features, including short stature, hyperextensible skin, and joint hyper …
Connective tissue and vascular phenotype in patients with cervical artery dissection.
Dittrich R, Heidbreder A, Rohsbach D, Schmalhorst J, Nassenstein I, Maintz D, Ringelstein EB, Nabavi DG, Kuhlenbäumer G. Dittrich R, et al. Neurology. 2007 Jun 12;68(24):2120-4. doi: 10.1212/01.wnl.0000264892.92538.a9. Neurology. 2007. PMID: 17562832
The clinical investigation contained 25 items characteristic for connective tissue diseases such as hyperextensible skin, articular hypermobility, capillary fragility, and facial stigmata. ...
The clinical investigation contained 25 items characteristic for connective tissue diseases such as hyperextensible skin, arti …
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
Angwin C, Brady AF, Pope FM, Vandersteen A, Baker D, Cheema H, Sobey G, Johnson D, von Klemperer K, Kazkaz H, van Dijk F, Ghali N. Angwin C, et al. J Med Genet. 2020 Nov;57(11):769-776. doi: 10.1136/jmedgenet-2019-106689. Epub 2020 May 28. J Med Genet. 2020. PMID: 32467296
Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in COL5A1 or COL5A2. The cardinal features of cEDS are hyperextensible skin, atrophic scarring and joint hypermobility. Arterial complications are more characteristically a feature of …
Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in COL5A1 or COL5A2. The cardinal features of cEDS are …
Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.
Colombi M, Dordoni C, Venturini M, Zanca A, Calzavara-Pinton P, Ritelli M. Colombi M, et al. Am J Med Genet A. 2017 Feb;173(2):524-530. doi: 10.1002/ajmg.a.38035. Epub 2016 Nov 7. Am J Med Genet A. 2017. PMID: 28102596 Review.
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. ...
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, …
18 results