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Quoted phrase not found in phrase index: "Ehlers-Danlos syndrome, classic type, 1"
Page 1
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 …
Increased augmentation index in patients with Ehlers-Danlos syndrome.
Roeder M, Thiel S, Baumann F, Sievi NA, Rohrbach M, Kohler M, Gaisl T. Roeder M, et al. BMC Cardiovasc Disord. 2020 Sep 15;20(1):417. doi: 10.1186/s12872-020-01684-x. BMC Cardiovasc Disord. 2020. PMID: 32933483 Free PMC article.
BACKGROUND: Ehlers-Danlos Syndrome (EDS) comprises a heterogeneous group of diseases characterized by joint hypermobility, connective tissue friability, and vascular fragility. Reliable prognostic factors predicting vascular disease progression …
BACKGROUND: Ehlers-Danlos Syndrome (EDS) comprises a heterogeneous group of diseases characterized by joint hypermobili …
Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study.
Rolfes MC, Deyle DR, King KS, Hand JL, Graff AH, Derauf C. Rolfes MC, et al. Child Abuse Negl. 2019 May;91:95-101. doi: 10.1016/j.chiabu.2019.03.008. Epub 2019 Mar 8. Child Abuse Negl. 2019. PMID: 30856599 Free PMC article.
BACKGROUND: The differential diagnosis of non-accidental injury during childhood includes medical conditions that predispose to skeletal fragility. Ehlers-Danlos syndrome (EDS) has been proposed as one such condition despite little objective evidence in the m …
BACKGROUND: The differential diagnosis of non-accidental injury during childhood includes medical conditions that predispose to skeletal fra …
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS).
Mitchell AL, Schwarze U, Jennings JF, Byers PH. Mitchell AL, et al. Hum Mutat. 2009 Jun;30(6):995-1002. doi: 10.1002/humu.21000. Hum Mutat. 2009. PMID: 19370768 Free PMC article.
Classical Ehlers-Danlos syndrome (EDS) is a heritable disorder characterized by joint hypermobility, skin hyperextensibility, and abnormal wound healing. ...We identified the causative mutation in nine of these cell strains (mutations for seven others …
Classical Ehlers-Danlos syndrome (EDS) is a heritable disorder characterized by joint hypermobility, skin hypere …
Endovascular procedures in patients with Ehlers-Danlos syndrome: a review of clinical outcomes and iatrogenic complications.
Lum YW, Brooke BS, Arnaoutakis GJ, Williams TK, Black JH 3rd. Lum YW, et al. Ann Vasc Surg. 2012 Jan;26(1):25-33. doi: 10.1016/j.avsg.2011.05.028. Epub 2011 Sep 23. Ann Vasc Surg. 2012. PMID: 21945330
BACKGROUND: Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disorder caused by mutations in genes involved with collagen matrix formation that results in weakened blood vessels. ...Perioperative data, including details of the procedure, hospita …
BACKGROUND: Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disorder caused by mutations in genes involv …
Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Colman M, Castori M, Micale L, Ritelli M, Colombi M, Ghali N, Van Dijk F, Marsili L, Weeks A, Vandersteen A, Rideout A, Legrand A, Frank M, Mirault T, Ferraris A, Di Giosaffatte N, Grammatico P, Grunert J, Frank C, Symoens S, Syx D, Malfait F. Colman M, et al. Clin Exp Rheumatol. 2022 May;40 Suppl 134(5):46-62. doi: 10.55563/clinexprheumatol/kzkq6y. Epub 2022 May 18. Clin Exp Rheumatol. 2022. PMID: 35587586 Free article.
However, with increasing access to molecular diagnostic testing based on next-generation sequencing techniques, such as sequencing of multi-gene panels and whole-exome sequencing, non-glycine substitutions are more frequently identified in individuals suspected to have a heritabl …
However, with increasing access to molecular diagnostic testing based on next-generation sequencing techniques, such as sequencing of multi- …
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.
Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M. Micale L, et al. Genes (Basel). 2019 Nov 25;10(12):967. doi: 10.3390/genes10120967. Genes (Basel). 2019. PMID: 31775249 Free PMC article.
TNXB-related classical-like Ehlers-Danlos syndrome (TNXB-clEDS) is an ultrarare type of Ehlers-Danlos syndrome due to biallelic null variants in TNXB, encoding tenascin-X. ...Unusual digital anomalies seem confirmed as possi …
TNXB-related classical-like Ehlers-Danlos syndrome (TNXB-clEDS) is an ultrarare type of Ehlers- …
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Richer J, Hill HL, Wang Y, Yang ML, Hunker KL, Lane J, Blackburn S, Coleman DM, Eliason J, Sillon G, D'Agostino MD, Jetty P, Mongeon FP, Laberge AM, Ryan SE, Fendrikova-Mahlay N, Coutinho T, Mathis MR, Zawistowski M, Hazen SL, Katz AE, Gornik HL, Brummett CM, Abecasis G, Bergin IL, Stanley JC, Li JZ, Ganesh SK. Richer J, et al. Arterioscler Thromb Vasc Biol. 2020 Nov;40(11):2686-2699. doi: 10.1161/ATVBAHA.119.313885. Epub 2020 Sep 17. Arterioscler Thromb Vasc Biol. 2020. PMID: 32938213 Free PMC article.
OBJECTIVE: While rare variants in the COL5A1 gene have been associated with classical Ehlers-Danlos syndrome and rarely with arterial dissections, recurrent variants in COL5A1 underlying a systemic arteriopathy have not been described. ...Molecular tes …
OBJECTIVE: While rare variants in the COL5A1 gene have been associated with classical Ehlers-Danlos syndrome and …
Augmentation index and the evolution of aortic disease in marfan-like syndromes.
Mortensen K, Baulmann J, Rybczynski M, Sheikhzadeh S, Aydin MA, Treede H, Dombrowski E, Kühne K, Peitsmeier P, Habermann CR, Robinson PN, Stuhrmann M, Berger J, Meinertz T, von Kodolitsch Y. Mortensen K, et al. Am J Hypertens. 2010 Jul;23(7):716-24. doi: 10.1038/ajh.2010.78. Epub 2010 Apr 15. Am J Hypertens. 2010. PMID: 20395939
METHODS: We performed APT in 78 consecutive patients in whom classic Marfan syndrome (MFS) had been excluded (46 men and 32 women aged 34 +/- 13 years). These patients comprised 9 persons with MFS-like habitus, 6 with a bicuspid aortic valve (BAV), 5 with MASS pheno …
METHODS: We performed APT in 78 consecutive patients in whom classic Marfan syndrome (MFS) had been excluded (46 men and 32 wo …
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M. Ritelli M, et al. Am J Med Genet A. 2017 Jan;173(1):169-176. doi: 10.1002/ajmg.a.38004. Epub 2016 Oct 14. Am J Med Genet A. 2017. PMID: 27739212
While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodular heterotopias with variable soft connective tissue involvement, as well as X-linked cardiac valvular dystrophy (XCVD). The term "Ehlers …
While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodul …
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