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Page 1
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: oldenburg ra. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769
Extending the p16-Leiden tumour spectrum by respiratory tract tumours.
Oldenburg RA, de Vos tot Nederveen Cappel WH, van Puijenbroek M, van den Ouweland A, Bakker E, Griffioen G, Devilee P, Cornelisse CJ, Meijers-Heijboer H, Vasen HF, Morreau H. Oldenburg RA, et al. J Med Genet. 2004 Mar;41(3):e31. doi: 10.1136/jmg.2003.012336. J Med Genet. 2004. PMID: 14985402 Free PMC article. No abstract available.
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: oldenburg ra. Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217753
CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.
Adank MA, Jonker MA, Kluijt I, van Mil SE, Oldenburg RA, Mooi WJ, Hogervorst FB, van den Ouweland AM, Gille JJ, Schmidt MK, van der Vaart AW, Meijers-Heijboer H, Waisfisz Q. Adank MA, et al. Among authors: oldenburg ra. J Med Genet. 2011 Dec;48(12):860-3. doi: 10.1136/jmedgenet-2011-100380. Epub 2011 Nov 5. J Med Genet. 2011. PMID: 22058428
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: oldenburg ra. 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.
Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy.
van Velzen HG, Schinkel AFL, Baart SJ, Oldenburg RA, Frohn-Mulder IME, van Slegtenhorst MA, Michels M. van Velzen HG, et al. Among authors: oldenburg ra. Circ Genom Precis Med. 2018 Apr;11(4):e001896. doi: 10.1161/CIRCGEN.117.001896. Circ Genom Precis Med. 2018. PMID: 29661763
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.
Verhagen JMA, Veldman JH, van der Zwaag PA, von der Thüsen JH, Brosens E, Christiaans I, Dooijes D, Helderman-van den Enden ATJM, Lekanne Deprez RH, Michels M, van Mil AM, Oldenburg RA, van der Smagt JJ, van den Wijngaard A, Wessels MW, Hofstra RMW, van Slegtenhorst MA, Jongbloed JDH, van de Laar IMBH. Verhagen JMA, et al. Among authors: oldenburg ra. Eur J Hum Genet. 2018 Nov;26(11):1603-1610. doi: 10.1038/s41431-018-0208-1. Epub 2018 Jul 9. Eur J Hum Genet. 2018. PMID: 29988065 Free PMC article.
59 results