314 related articles for article (PubMed ID: 30837697)
1. 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]
2. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis.
Shalhub S; Byers PH; Hicks KL; Coleman DM; Davis FM; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Charlton-Ouw K; Behrendt CA; Debus ES; von Kodolitsch Y; Zarkowsky D; Powell RJ; Pepin M; Milewicz DM; Regalado ES; Lawrence PF; Woo K
J Vasc Surg; 2020 Jan; 71(1):149-157. PubMed ID: 31353273
[TBL] [Abstract][Full Text] [Related]
3. Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.
Yagi H; Takeda N; Amiya E; Akiyama N; Chang H; Ishiura H; Sato J; Akazawa H; Morita H; Komuro I
Am J Med Genet A; 2022 Sep; 188(9):2777-2782. PubMed ID: 35543214
[TBL] [Abstract][Full Text] [Related]
4. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome.
Shalhub S; Byers PH; Hicks KL; Charlton-Ouw K; Zarkowsky D; Coleman DM; Davis FM; Regalado ES; De Caridi G; Weaver KN; Miller EM; Schermerhorn ML; Shean K; Oderich G; Ribeiro M; Nishikawa C; Behrendt CA; Debus ES; von Kodolitsch Y; Powell RJ; Pepin M; Milewicz DM; Lawrence PF; Woo K
J Vasc Surg; 2019 Nov; 70(5):1543-1554. PubMed ID: 31126764
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
Lavanya K; Mahtani K; Abbott J; Jain A; Selvam P; Atwal H; Farres H; Atwal PS
Am J Med Genet A; 2022 Jul; 188(7):2192-2197. PubMed ID: 35396906
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
Legrand A; Devriese M; Dupuis-Girod S; Simian C; Venisse A; Mazzella JM; Auribault K; Adham S; Frank M; Albuisson J; Jeunemaitre X
Genet Med; 2019 Jul; 21(7):1568-1575. PubMed ID: 30474650
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome.
Shalhub S; Nkansah R; El-Ghazali A; Hillenbrand CJ; Vaidya SS; Schwarze U; Byers PH
J Vasc Surg; 2023 Aug; 78(2):394-404. PubMed ID: 37068529
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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
Clin Exp Rheumatol; 2022 May; 40 Suppl 134(5):46-62. PubMed ID: 35587586
[TBL] [Abstract][Full Text] [Related]
13. Phenotype of COL3A1/COL5A2 deletion patients.
Kempers MJ; Wessels M; Van Berendoncks A; van de Laar IM; de Leeuw N; Loeys B
Eur J Med Genet; 2022 Oct; 65(10):104593. PubMed ID: 35964930
[TBL] [Abstract][Full Text] [Related]
14. A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.
Cortini F; Marinelli B; Romi S; Seresini A; Pesatori AC; Seia M; Montano N; Bassotti A
Vasc Endovascular Surg; 2017 Apr; 51(3):141-145. PubMed ID: 28183226
[TBL] [Abstract][Full Text] [Related]
15. Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
Stembridge NS; Vandersteen AM; Ghali N; Sawle P; Nesbitt M; Pollitt RC; Ferguson DJ; Holden S; Elmslie F; Henderson A; Hulmes DJ; Pope FM
Am J Med Genet A; 2015 Aug; 167A(8):1763-72. PubMed ID: 25846194
[TBL] [Abstract][Full Text] [Related]
16. Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
Baas AF; Spiering W; Moll FL; Page-Christiaens L; Beenakkers IC; Dooijes D; Vonken EP; van der Smagt JJ; Knoers NV; Koenen SV; van Herwaarden JA; Sieswerda GT
Am J Med Genet A; 2017 Feb; 173(2):519-523. PubMed ID: 28102592
[TBL] [Abstract][Full Text] [Related]
17. Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers-Danlos syndrome in one large Chinese family.
Liang M; Chen C; Dai Y; Chang Y; Gao Y
J Cell Mol Med; 2022 Jan; 26(1):144-150. PubMed ID: 34845833
[TBL] [Abstract][Full Text] [Related]
18. Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.
D'hondt S; Guillemyn B; Syx D; Symoens S; De Rycke R; Vanhoutte L; Toussaint W; Lambrecht BN; De Paepe A; Keene DR; Ishikawa Y; Bächinger HP; Janssens S; Bertrand MJM; Malfait F
Matrix Biol; 2018 Sep; 70():72-83. PubMed ID: 29551664
[TBL] [Abstract][Full Text] [Related]
19. A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.
Duong J; Rideout A; MacKay S; Beis J; Parkash S; Schwarze U; Horne SG; Vandersteen A
Eur J Med Genet; 2020 Feb; 63(2):103730. PubMed ID: 31323331
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]