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Page 1
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM. van de Laar IM, et al. Among authors: timmermans j. Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217753
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
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.
Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome.
van der Linde D, Bekkers JA, Mattace-Raso FU, van de Laar IM, Moelker A, van den Bosch AE, van Dalen BM, Timmermans J, Bertoli-Avella AM, Wessels MW, Bogers AJ, Roos-Hesselink JW. van der Linde D, et al. Among authors: timmermans j. Ann Thorac Surg. 2013 Feb;95(2):563-9. doi: 10.1016/j.athoracsur.2012.07.009. Epub 2012 Aug 30. Ann Thorac Surg. 2013. PMID: 22939450
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.
The clinical spectrum of complete FBN1 allele deletions.
Hilhorst-Hofstee Y, Hamel BC, Verheij JB, Rijlaarsdam ME, Mancini GM, Cobben JM, Giroth C, Ruivenkamp CA, Hansson KB, Timmermans J, Moll HA, Breuning MH, Pals G. Hilhorst-Hofstee Y, et al. Among authors: timmermans j. Eur J Hum Genet. 2011 Mar;19(3):247-52. doi: 10.1038/ejhg.2010.174. Epub 2010 Nov 10. Eur J Hum Genet. 2011. PMID: 21063442 Free PMC article.
Influence of Pregnancy on Aortic Diameter in Women With the Turner Syndrome.
Kooijman SS, Duijnhouwer AL, van Kimmenade RRJ, van Dijk APJ, Hink E, de Boer MJ, Timmermans J, Roos-Hesselink JW. Kooijman SS, et al. Among authors: timmermans j. Am J Cardiol. 2021 Feb 1;140:122-127. doi: 10.1016/j.amjcard.2020.10.047. Epub 2020 Nov 2. Am J Cardiol. 2021. PMID: 33144162
Compound-heterozygous Marfan syndrome.
Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y, Mulder BJ, Timmermans J, Pals G, Cobben JM. Van Dijk FS, et al. Among authors: timmermans j. Eur J Med Genet. 2009 Jan-Feb;52(1):1-5. doi: 10.1016/j.ejmg.2008.11.004. Epub 2008 Nov 27. Eur J Med Genet. 2009. PMID: 19059503
Inflammation aggravates disease severity in Marfan syndrome patients.
Radonic T, de Witte P, Groenink M, de Waard V, Lutter R, van Eijk M, Jansen M, Timmermans J, Kempers M, Scholte AJ, Hilhorst-Hofstee Y, van den Berg MP, van Tintelen JP, Pals G, Baars MJ, Mulder BJ, Zwinderman AH. Radonic T, et al. Among authors: timmermans j. PLoS One. 2012;7(3):e32963. doi: 10.1371/journal.pone.0032963. Epub 2012 Mar 30. PLoS One. 2012. PMID: 22479353 Free PMC article.
The risk for type B aortic dissection in Marfan syndrome.
den Hartog AW, Franken R, Zwinderman AH, Timmermans J, Scholte AJ, van den Berg MP, de Waard V, Pals G, Mulder BJ, Groenink M. den Hartog AW, et al. Among authors: timmermans j. J Am Coll Cardiol. 2015 Jan 27;65(3):246-54. doi: 10.1016/j.jacc.2014.10.050. J Am Coll Cardiol. 2015. PMID: 25614422 Free article.
535 results