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6. Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report. Park MA; Shin SY; Kim YJ; Park MJ; Lee SH Medicine (Baltimore); 2017 Nov; 96(47):e8853. PubMed ID: 29381997 [TBL] [Abstract][Full Text] [Related]
7. Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report. Wan T; Ye J; Wu P; Cheng M; Jiang B; Wang H; Li J; Ma J; Wang L; Huang X BMC Pulm Med; 2020 May; 20(1):149. PubMed ID: 32471395 [TBL] [Abstract][Full Text] [Related]
8. Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection. Gu G; Yang H; Cui L; Fu Y; Li F; Zhou Z; Zheng Y Vasc Endovascular Surg; 2018 Feb; 52(2):138-142. PubMed ID: 29216800 [TBL] [Abstract][Full Text] [Related]
9. [Respiratory manifestations of Ehlers-Danlos syndromes]. Benattia A; Benistan K; Frank M; Boussouar S Rev Mal Respir; 2023 Mar; 40(3):254-264. PubMed ID: 36740495 [TBL] [Abstract][Full Text] [Related]
10. Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients. Demirdas S; van den Bersselaar LM; Lechner R; Bos J; Alsters SIM; Baars MJH; Baas AF; Baysal Ö; van der Crabben SN; Dulfer E; Giesbertz NAA; Helderman-van den Enden ATJM; Hilhorst-Hofstee Y; Kempers MJE; Komdeur FL; Loeys B; Majoor-Krakauer D; Ockeloen CW; Overwater E; van Tintelen PJ; Voorendt M; de Waard V; Maugeri A; Brüggenwirth HT; van de Laar IMBH; Houweling AC Circ Genom Precis Med; 2024 Jun; 17(3):e003978. PubMed ID: 38623759 [TBL] [Abstract][Full Text] [Related]
11. Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review. Frank M; Adham S; Zinzindohoué F; Jeunemaitre X J Gastroenterol Hepatol; 2019 May; 34(5):857-863. PubMed ID: 30357907 [TBL] [Abstract][Full Text] [Related]
12. Diffuse Pulmonary Ossification with Connective Tissue Weakness Potentially Due to Vascular Ehlers-Danlos Syndrome. Yoshizumi Y; Tomioka H; Katsuyama E; Kawabata Y Intern Med; 2021 Sep; 60(17):2847-2851. PubMed ID: 33776002 [TBL] [Abstract][Full Text] [Related]
13. Case report of a young male, with recurrent pneumothorax, hemoptysis and intrapulmonary cavitary lesions. Junping S; Tianyu S; Rentao W; Shengshu L; Xiaobo H; Xinxin Z; Mingyue Z Medicine (Baltimore); 2023 Oct; 102(40):e35436. PubMed ID: 37800821 [TBL] [Abstract][Full Text] [Related]
14. Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. Shalhub S; Black JH; Cecchi AC; Xu Z; Griswold BF; Safi HJ; Milewicz DM; McDonnell NB J Vasc Surg; 2014 Jul; 60(1):160-9. PubMed ID: 24650746 [TBL] [Abstract][Full Text] [Related]
15. A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement. Ruscitti F; Trevisan L; Rosti G; Gotta F; Cianflone A; Geroldi A; Origone P; Pichiecchio A; Viglio S; Iascone M; Mandich P Mol Genet Genomic Med; 2021 Sep; 9(9):e1753. PubMed ID: 34318601 [TBL] [Abstract][Full Text] [Related]
16. Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene. Manhas A; Tripathi D; Noishiki C; Wu D; Liu L; Sallam K; Lee JT; Fukaya E; Sayed N Stem Cell Res; 2024 Sep; 79():103485. PubMed ID: 38944978 [TBL] [Abstract][Full Text] [Related]
17. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. Ghali N; Baker D; Brady AF; Burrows N; Cervi E; Cilliers D; Frank M; Germain DP; Hulmes DJS; Jacquemont ML; Kannu P; Lefroy H; Legrand A; Pope FM; Robertson L; Vandersteen A; von Klemperer K; Warburton R; Whiteford M; van Dijk FS Genet Med; 2019 Sep; 21(9):2081-2091. PubMed ID: 30837697 [TBL] [Abstract][Full Text] [Related]
18. Patient-derived extracellular matrix demonstrates role of COL3A1 in blood vessel mechanics. Doherty EL; Aw WY; Warren EC; Hockenberry M; Whitworth CP; Krohn G; Howell S; Diekman BO; Legant WR; Nia HT; Hickey AJ; Polacheck WJ Acta Biomater; 2023 Aug; 166():346-359. PubMed ID: 37187299 [TBL] [Abstract][Full Text] [Related]
19. A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome. Olson SL; Murray ML; Skeik N Ann Vasc Surg; 2019 Nov; 61():472.e9-472.e13. PubMed ID: 31394236 [TBL] [Abstract][Full Text] [Related]
20. Vascular Ehlers-Danlos syndrome without the characteristic facial features: a case report. Inokuchi R; Kurata H; Endo K; Kitsuta Y; Nakajima S; Hatamochi A; Yahagi N Medicine (Baltimore); 2014 Dec; 93(28):e291. PubMed ID: 25526469 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]