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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1998 1
1999 1
2000 1
2003 1
2005 2
2006 2
2008 2
2009 1
2010 2
2011 1
2013 2
2015 1
2024 0

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17 results

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Page 1
The revised Ghent nosology for the Marfan syndrome.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. Loeys BL, et al. Among authors: de paepe am. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. J Med Genet. 2010. PMID: 20591885
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. Loeys BL, et al. Among authors: de paepe am. Nat Genet. 2005 Mar;37(3):275-81. doi: 10.1038/ng1511. Epub 2005 Jan 30. Nat Genet. 2005. PMID: 15731757 Free article.
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. Loeys BL, et al. Among authors: de paepe am. N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. N Engl J Med. 2006. PMID: 16928994 Free article.
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature.
Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, Galán F, Kingston H, Van der Aa N, Salcedo I, Swinkels ME, Wallgren-Pettersson C, Gabrielli O, De Backer J, Coucke PJ, De Paepe AM. Callewaert BL, et al. Among authors: de paepe am. Hum Mutat. 2009 Mar;30(3):334-41. doi: 10.1002/humu.20854. Hum Mutat. 2009. PMID: 19006240 Review.
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.
Swinnen FK, Coucke PJ, De Paepe AM, Symoens S, Malfait F, Gentile FV, Sangiorgi L, D'Eufemia P, Celli M, Garretsen TJ, Cremers CW, Dhooge IJ, De Leenheer EM. Swinnen FK, et al. Among authors: de paepe am. Orphanet J Rare Dis. 2011 Dec 29;6:88. doi: 10.1186/1750-1172-6-88. Orphanet J Rare Dis. 2011. PMID: 22206639 Free PMC article.
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity.
Hadj-Rabia S, Callewaert BL, Bourrat E, Kempers M, Plomp AS, Layet V, Bartholdi D, Renard M, De Backer J, Malfait F, Vanakker OM, Coucke PJ, De Paepe AM, Bodemer C. Hadj-Rabia S, et al. Among authors: de paepe am. Orphanet J Rare Dis. 2013 Feb 25;8:36. doi: 10.1186/1750-1172-8-36. Orphanet J Rare Dis. 2013. PMID: 23442826 Free PMC article.
Primary impairment of left ventricular function in Marfan syndrome.
De Backer JF, Devos D, Segers P, Matthys D, François K, Gillebert TC, De Paepe AM, De Sutter J. De Backer JF, et al. Among authors: de paepe am. Int J Cardiol. 2006 Oct 10;112(3):353-8. doi: 10.1016/j.ijcard.2005.10.010. Epub 2005 Nov 28. Int J Cardiol. 2006. PMID: 16316698
17 results