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222 results

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Page 1
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: pals g. PLoS One. 2012;7(3):e32963. doi: 10.1371/journal.pone.0032963. Epub 2012 Mar 30. PLoS One. 2012. PMID: 22479353 Free PMC article.
Intracranial hypertension in 2 children with marfan syndrome.
Hilhorst-Hofstee Y, Kroft LJ, Pals G, van Vugt JP, Overweg-Plandsoen WC. Hilhorst-Hofstee Y, et al. Among authors: pals g. J Child Neurol. 2008 Aug;23(8):954-5. doi: 10.1177/0883073808315341. Epub 2008 Mar 19. J Child Neurol. 2008. PMID: 18354149
The many faces of aggressive aortic pathology: Loeys-Dietz syndrome.
Aalberts JJ, van den Berg MP, Bergman JE, du Marchie Sarvaas GJ, Post JG, van Unen H, Pals G, Boonstra PW, van Tintelen JP. Aalberts JJ, et al. Among authors: pals g. Neth Heart J. 2008 Sep;16(9):299-304. doi: 10.1007/BF03086168. Neth Heart J. 2008. PMID: 18827873 Free PMC article.
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: pals g. 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
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS, Nesbitt IM, Nikkels PG, Dalton A, Bongers EM, van de Kamp JM, Hilhorst-Hofstee Y, Den Hollander NS, Lachmeijer AM, Marcelis CL, Tan-Sindhunata GM, van Rijn RR, Meijers-Heijboer H, Cobben JM, Pals G. Van Dijk FS, et al. Among authors: pals g. Eur J Hum Genet. 2009 Dec;17(12):1560-9. doi: 10.1038/ejhg.2009.75. Epub 2009 Jun 24. Eur J Hum Genet. 2009. PMID: 19550437 Free PMC article.
Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation.
Aalberts JJ, Schuurman AG, Pals G, Hamel BJ, Bosman G, Hilhorst-Hofstee Y, Barge-Schaapveld DQ, Mulder BJ, van den Berg MP, van Tintelen JP. Aalberts JJ, et al. Among authors: pals g. Neth Heart J. 2010 Feb;18(2):85-9. doi: 10.1007/BF03091743. Neth Heart J. 2010. PMID: 20200614 Free PMC article.
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Hilhorst-Hofstee Y, Rijlaarsdam ME, Scholte AJ, Swart-van den Berg M, Versteegh MI, van der Schoot-van Velzen I, Schäbitz HJ, Bijlsma EK, Baars MJ, Kerstjens-Frederikse WS, Giltay JC, Hamel BC, Breuning MH, Pals G. Hilhorst-Hofstee Y, et al. Among authors: pals g. Hum Mutat. 2010 Dec;31(12):E1915-27. doi: 10.1002/humu.21372. Hum Mutat. 2010. PMID: 20886638 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: pals g. 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.
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: pals g. Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217753
222 results