These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. FBN1 mutations in patients with descending thoracic aortic dissections. Brautbar A; LeMaire SA; Franco LM; Coselli JS; Milewicz DM; Belmont JW Am J Med Genet A; 2010 Feb; 152A(2):413-6. PubMed ID: 20082464 [TBL] [Abstract][Full Text] [Related]
5. The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus. Keramati AR; Sadeghpour A; Farahani MM; Chandok G; Mani A BMC Med Genet; 2010 Oct; 11():143. PubMed ID: 20937124 [TBL] [Abstract][Full Text] [Related]
6. Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. Wang WJ; Han P; Zheng J; Hu FY; Zhu Y; Xie JS; Guo J; Zhang Z; Dong J; Zheng GY; Cao H; Liu TS; Fu Q; Sun L; Yang BB; Tian XL J Mol Med (Berl); 2013 Jan; 91(1):37-47. PubMed ID: 22772377 [TBL] [Abstract][Full Text] [Related]
8. Association of polymorphisms in Yu S; Huang L; Ren J; Zhang X Open Med (Wars); 2024; 19(1):20241025. PubMed ID: 39291280 [TBL] [Abstract][Full Text] [Related]
9. Protective effects of angiotensin-converting enzyme I/I and matrix metalloproteinase-3 6A/6A polymorphisms on dilatative pathology within the ascending thoracic aorta. Lesauskaite V; Sinkunaite-Marsalkiene G; Tamosiunas A; Benetis R Eur J Cardiothorac Surg; 2011 Jul; 40(1):23-7. PubMed ID: 21111627 [TBL] [Abstract][Full Text] [Related]
10. Smad2-dependent protease nexin-1 overexpression differentiates chronic aneurysms from acute dissections of human ascending aorta. Gomez D; Kessler K; Borges LF; Richard B; Touat Z; Ollivier V; Mansilla S; Bouton MC; Alkoder S; Nataf P; Jandrot-Perrus M; Jondeau G; Vranckx R; Michel JB Arterioscler Thromb Vasc Biol; 2013 Sep; 33(9):2222-32. PubMed ID: 23814118 [TBL] [Abstract][Full Text] [Related]
11. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Milewicz DM; Michael K; Fisher N; Coselli JS; Markello T; Biddinger A Circulation; 1996 Dec; 94(11):2708-11. PubMed ID: 8941093 [TBL] [Abstract][Full Text] [Related]
12. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Attias D; Stheneur C; Roy C; Collod-Béroud G; Detaint D; Faivre L; Delrue MA; Cohen L; Francannet C; Béroud C; Claustres M; Iserin F; Khau Van Kien P; Lacombe D; Le Merrer M; Lyonnet S; Odent S; Plauchu H; Rio M; Rossi A; Sidi D; Steg PG; Ravaud P; Boileau C; Jondeau G Circulation; 2009 Dec; 120(25):2541-9. PubMed ID: 19996017 [TBL] [Abstract][Full Text] [Related]
13. Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome. Franken R; Teixido-Tura G; Brion M; Forteza A; Rodriguez-Palomares J; Gutierrez L; Garcia Dorado D; Pals G; Mulder BJ; Evangelista A Heart; 2017 Nov; 103(22):1795-1799. PubMed ID: 28468757 [TBL] [Abstract][Full Text] [Related]
14. Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome. Pepe G; Nistri S; Giusti B; Sticchi E; Attanasio M; Porciani C; Abbate R; Bonow RO; Yacoub M; Gensini GF BMC Med Genet; 2014 Feb; 15():23. PubMed ID: 24564502 [TBL] [Abstract][Full Text] [Related]
15. A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. Francke U; Berg MA; Tynan K; Brenn T; Liu W; Aoyama T; Gasner C; Miller DC; Furthmayr H Am J Hum Genet; 1995 Jun; 56(6):1287-96. PubMed ID: 7762551 [TBL] [Abstract][Full Text] [Related]
16. Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection. Xu S; Li L; Fu Y; Wang X; Sun H; Wang J; Han L; Wu Z; Liu Y; Zhu J; Sun L; Lan F; He Y; Zhang H Mol Genet Genomic Med; 2020 Jan; 8(1):e1041. PubMed ID: 31830381 [TBL] [Abstract][Full Text] [Related]
17. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Détaint D; Faivre L; Collod-Beroud G; Child AH; Loeys BL; Binquet C; Gautier E; Arbustini E; Mayer K; Arslan-Kirchner M; Stheneur C; Halliday D; Beroud C; Bonithon-Kopp C; Claustres M; Plauchu H; Robinson PN; Kiotsekoglou A; De Backer J; Adès L; Francke U; De Paepe A; Boileau C; Jondeau G Eur Heart J; 2010 Sep; 31(18):2223-9. PubMed ID: 20709720 [TBL] [Abstract][Full Text] [Related]
18. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. LeMaire SA; McDonald ML; Guo DC; Russell L; Miller CC; Johnson RJ; Bekheirnia MR; Franco LM; Nguyen M; Pyeritz RE; Bavaria JE; Devereux R; Maslen C; Holmes KW; Eagle K; Body SC; Seidman C; Seidman JG; Isselbacher EM; Bray M; Coselli JS; Estrera AL; Safi HJ; Belmont JW; Leal SM; Milewicz DM Nat Genet; 2011 Sep; 43(10):996-1000. PubMed ID: 21909107 [TBL] [Abstract][Full Text] [Related]
19. Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation. Marshall LM; Carlson EJ; O'Malley J; Snyder CK; Charbonneau NL; Hayflick SJ; Coselli JS; Lemaire SA; Sakai LY Circ Res; 2013 Oct; 113(10):1159-68. PubMed ID: 24036495 [TBL] [Abstract][Full Text] [Related]
20. Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation? Waldmüller S; Müller M; Warnecke H; Rees W; Schöls W; Walterbusch G; Ennker J; Scheffold T Eur J Cardiothorac Surg; 2007 Jun; 31(6):970-5. PubMed ID: 17418587 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]