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Journal Abstract Search
142 related items for PubMed ID: 18721526
1. Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation. Arrington CB, Sower CT, Chuckwuk N, Stevens J, Leppert MF, Yetman AT, Bowles NE. Am J Cardiol; 2008 Sep 01; 102(5):629-31. PubMed ID: 18721526 [Abstract] [Full Text] [Related]
2. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. Tran-Fadulu V, Pannu H, Kim DH, Vick GW, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, Milewicz DM. J Med Genet; 2009 Sep 01; 46(9):607-13. PubMed ID: 19542084 [Abstract] [Full Text] [Related]
3. Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve. Foffa I, Ait Alì L, Panesi P, Mariani M, Festa P, Botto N, Vecoli C, Andreassi MG. BMC Med Genet; 2013 Apr 11; 14():44. PubMed ID: 23578328 [Abstract] [Full Text] [Related]
4. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M. Orphanet J Rare Dis; 2009 Nov 02; 4():24. PubMed ID: 19883511 [Abstract] [Full Text] [Related]
5. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Mátyás G, Arnold E, Carrel T, Baumgartner D, Boileau C, Berger W, Steinmann B. Hum Mutat; 2006 Aug 02; 27(8):760-9. PubMed ID: 16791849 [Abstract] [Full Text] [Related]
6. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C. Hum Mutat; 2008 Nov 02; 29(11):E284-95. PubMed ID: 18781618 [Abstract] [Full Text] [Related]
7. Successful Single-Stage Operation for Loeys-Dietz Syndrome With Critical Coarctation of the Descending Aorta in a Young Adult. Wei S, Huang X, Hu S, Yang Y, Liu F. Can J Cardiol; 2016 Oct 02; 32(10):1260.e15-1260.e17. PubMed ID: 26948038 [Abstract] [Full Text] [Related]
8. Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome. De Cario R, Sticchi E, Lucarini L, Attanasio M, Nistri S, Marcucci R, Pepe G, Giusti B. J Vasc Surg; 2018 Jul 02; 68(1):225-233.e5. PubMed ID: 28847661 [Abstract] [Full Text] [Related]
9. Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. Muramatsu Y, Kosho T, Magota M, Yokotsuka T, Ito M, Yasuda A, Kito O, Suzuki C, Nagata Y, Kawai S, Ikoma M, Hatano T, Nakayama M, Kawamura R, Wakui K, Morisaki H, Morisaki T, Fukushima Y. Am J Med Genet A; 2010 Feb 02; 152A(2):417-21. PubMed ID: 20101701 [Abstract] [Full Text] [Related]
10. Aneurysm syndromes caused by mutations in the TGF-beta receptor. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. N Engl J Med; 2006 Aug 24; 355(8):788-98. PubMed ID: 16928994 [Abstract] [Full Text] [Related]
12. Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse. Aalberts JJ, van Tintelen JP, Oomen T, Bergman JE, Halley DJ, Jongbloed JD, Suurmeijer AJ, van den Berg MP. Am J Med Genet A; 2014 Jan 24; 164A(1):113-9. PubMed ID: 24243761 [Abstract] [Full Text] [Related]
14. 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 24; 91(1):37-47. PubMed ID: 22772377 [Abstract] [Full Text] [Related]
15. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan-Kirchner M. Hum Mutat; 2006 Aug 24; 27(8):770-7. PubMed ID: 16799921 [Abstract] [Full Text] [Related]
16. Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome. Breckpot J, Budts W, De Zegher F, Vermeesch JR, Devriendt K. Eur J Med Genet; 2010 Aug 24; 53(6):408-10. PubMed ID: 20813212 [Abstract] [Full Text] [Related]
18. Aneurysm development in patients with a bicuspid aortic valve is not associated with transforming growth factor-β activation. Paloschi V, Gådin JR, Khan S, Björck HM, Du L, Maleki S, Roy J, Lindeman JH, Mohamed SA, Tsuda T, Franco-Cereceda A, Eriksson P. Arterioscler Thromb Vasc Biol; 2015 Apr 24; 35(4):973-80. PubMed ID: 25745062 [Abstract] [Full Text] [Related]
19. Heterogeneity of aortic disease severity in patients with Loeys-Dietz syndrome. Teixidó-Tura G, Franken R, Galuppo V, Gutiérrez García-Moreno L, Borregan M, Mulder BJ, García-Dorado D, Evangelista A. Heart; 2016 Apr 24; 102(8):626-32. PubMed ID: 26848186 [Abstract] [Full Text] [Related]