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Page 1
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.
Luyckx I, MacCarrick G, Kempers M, Meester J, Geryl C, Rombouts O, Peeters N, Claes C, Boeckx N, Sakalihasan N, Jacquinet A, Hoischen A, Vandeweyer G, Van Lent S, Saenen J, Van Craenenbroeck E, Timmermans J, Duijnhouwer A, Dietz H, Van Laer L, Loeys B, Verstraeten A. Luyckx I, et al. Among authors: timmermans j. Eur J Hum Genet. 2019 Jul;27(7):1044-1053. doi: 10.1038/s41431-019-0363-z. Epub 2019 Feb 22. Eur J Hum Genet. 2019. PMID: 30796334 Free PMC article. Clinical Trial.
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL. Bertoli-Avella AM, et al. Among authors: timmermans j. J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040. J Am Coll Cardiol. 2015. PMID: 25835445 Free PMC article.
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B. Cannaerts E, et al. Among authors: timmermans j. J Med Genet. 2019 Apr;56(4):220-227. doi: 10.1136/jmedgenet-2018-105304. Epub 2018 Jul 2. J Med Genet. 2019. PMID: 29967133
Aortic dilatation and outcome in women with Turner syndrome.
Duijnhouwer AL, Bons LR, Timmers HJLM, van Kimmenade RRL, Snoeren M, Timmermans J, van den Hoven AT, Kempers M, van Dijk APJ, Fleischer K, Roos-Hesselink JW. Duijnhouwer AL, et al. Among authors: timmermans j. Heart. 2019 May;105(9):693-700. doi: 10.1136/heartjnl-2018-313716. Epub 2018 Oct 27. Heart. 2019. PMID: 30368486
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW. van de Laar IM, et al. Among authors: timmermans j. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL. Lindsay ME, et al. Among authors: timmermans j. Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349. Nat Genet. 2012. PMID: 22772368 Free PMC article.
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
van de Laar IMBH, Arbustini E, Loeys B, Björck E, Murphy L, Groenink M, Kempers M, Timmermans J, Roos-Hesselink J, Benke K, Pepe G, Mulder B, Szabolcs Z, Teixidó-Turà G, Robert L, Emmanuel Y, Evangelista A, Pini A, von Kodolitsch Y, Jondeau G, De Backer J. van de Laar IMBH, et al. Among authors: timmermans j. Orphanet J Rare Dis. 2019 Nov 21;14(1):264. doi: 10.1186/s13023-019-1186-2. Orphanet J Rare Dis. 2019. PMID: 31752940 Free PMC article.
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.
van der Linde D, van de Laar IM, Bertoli-Avella AM, Oldenburg RA, Bekkers JA, Mattace-Raso FU, van den Meiracker AH, Moelker A, van Kooten F, Frohn-Mulder IM, Timmermans J, Moltzer E, Cobben JM, van Laer L, Loeys B, De Backer J, Coucke PJ, De Paepe A, Hilhorst-Hofstee Y, Wessels MW, Roos-Hesselink JW. van der Linde D, et al. Among authors: timmermans j. J Am Coll Cardiol. 2012 Jul 31;60(5):397-403. doi: 10.1016/j.jacc.2011.12.052. Epub 2012 May 23. J Am Coll Cardiol. 2012. PMID: 22633655 Free article.
535 results