255 related articles for article (PubMed ID: 19023163)
1. Vascular type of Ehlers-Danlos syndrome.
Watanabe A; Shimada T
J Nippon Med Sch; 2008 Oct; 75(5):254-61. PubMed ID: 19023163
[TBL] [Abstract][Full Text] [Related]
2. Vascular Ehlers-Danlos syndrome.
Germain DP; Herrera-Guzman Y
Ann Genet; 2004; 47(1):1-9. PubMed ID: 15127738
[TBL] [Abstract][Full Text] [Related]
3. Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.
Cortini F; Marinelli B; Seia M; De Giorgio B; Pesatori AC; Montano N; Bassotti A
J Med Case Rep; 2016 Oct; 10(1):303. PubMed ID: 27799058
[TBL] [Abstract][Full Text] [Related]
4. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.
Schwarze U; Schievink WI; Petty E; Jaff MR; Babovic-Vuksanovic D; Cherry KJ; Pepin M; Byers PH
Am J Hum Genet; 2001 Nov; 69(5):989-1001. PubMed ID: 11577371
[TBL] [Abstract][Full Text] [Related]
5. A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.
Eder J; Laccone F; Rohrbach M; Giunta C; Aumayr K; Reichel C; Trautinger F
Exp Dermatol; 2013 Mar; 22(3):231-4. PubMed ID: 23489429
[TBL] [Abstract][Full Text] [Related]
6. Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene.
Sadakata R; Hatamochi A; Kodama K; Kaga A; Yamaguchi T; Soma T; Usui Y; Nagata M; Ohtake A; Hagiwara K; Kanazawa M
Intern Med; 2010; 49(16):1797-800. PubMed ID: 20720362
[TBL] [Abstract][Full Text] [Related]
7. [Vascular Ehlers-Danlos syndrome].
Perdu J; Boutouyrie P; Lahlou-Laforêt K; Khau Van Kien P; Denarié N; Mousseaux E; Sapoval M; Julia P; Zinzindohoué F; Touraine P; Dumez Y; Trystram D; Vignal-Clermont C; Gimenez-Roqueplo AP; Jeunemaitre X; Fiessinger JN
Presse Med; 2006 Dec; 35(12 Pt 2):1864-75. PubMed ID: 17159712
[TBL] [Abstract][Full Text] [Related]
8. Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan.
Watanabe A; Kosho T; Wada T; Sakai N; Fujimoto M; Fukushima Y; Shimada T
Circ J; 2007 Feb; 71(2):261-5. PubMed ID: 17251678
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic features of vascular Ehlers-Danlos syndrome.
Germain DP
Ann Vasc Surg; 2002 May; 16(3):391-7. PubMed ID: 12016538
[TBL] [Abstract][Full Text] [Related]
10. Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene.
Rebelo M; Ramos L; Lima J; Vieira JD; Tavares P; Teixeira L; Matos A; Costa JN
Acta Med Port; 2011; 24(6):1079-86. PubMed ID: 22713205
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Ehlers-Danlos syndrome type IV.
Germain DP
Orphanet J Rare Dis; 2007 Jul; 2():32. PubMed ID: 17640391
[TBL] [Abstract][Full Text] [Related]
13. [Vascular Ehlers-Danlos syndromes--biochemical and molecular-genetic investigations].
Lund AM
Ugeskr Laeger; 2006 Feb; 168(9):915-20. PubMed ID: 16513057
[TBL] [Abstract][Full Text] [Related]
14. Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis.
Güven S; Kule O; Güleş D; Okumuş H; Oruç M; Celbiş O
J Forensic Leg Med; 2020 Jul; 73():101969. PubMed ID: 32442117
[TBL] [Abstract][Full Text] [Related]
15. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome.
Okita H; Ikeda Y; Mitsuhashi Y; Namikawa H; Kitamura Y; Hamasaki Y; Yamazaki S; Hatamochi A
Arch Dermatol Res; 2010 Jul; 302(5):395-9. PubMed ID: 19543901
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.
Chiarelli N; Carini G; Zoppi N; Ritelli M; Colombi M
PLoS One; 2018; 13(1):e0191220. PubMed ID: 29346445
[TBL] [Abstract][Full Text] [Related]
18. Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation.
Deng Y; Wei S; Hu S; Chen J; Tan Z; Yang Y
Mol Med Rep; 2015 Jul; 12(1):1119-24. PubMed ID: 25776230
[TBL] [Abstract][Full Text] [Related]
19. Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications.
Beridze N; Frishman WH
Cardiol Rev; 2012; 20(1):4-7. PubMed ID: 22143279
[TBL] [Abstract][Full Text] [Related]
20. Vascular Ehlers-Danlos syndrome: a case with fatal outcome.
Morais P; Mota A; Eloy C; Lopes JM; Torres F; Palmeiro A; Tavares P; Azevedo F
Dermatol Online J; 2011 Apr; 17(4):1. PubMed ID: 21549076
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
