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457 results

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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 backer j, de paepe am. Hum Mutat. 2009 Mar;30(3):334-41. doi: 10.1002/humu.20854. Hum Mutat. 2009. PMID: 19006240 Review.
DUP25 remains unconfirmed.
Vermeulen SJ, Menten B, De Bie S, Coucke P, Malfait F, De Backer J, Speleman F, De Paepe A, Loeys B. Vermeulen SJ, et al. Among authors: de paepe a, de backer j, de bie s. Am J Med Genet A. 2004 Dec 15;131(3):320-1. doi: 10.1002/ajmg.a.30343. Am J Med Genet A. 2004. PMID: 15386472 No abstract available.
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 backer j, 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.
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 sutter j, 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
Aortic reflection coefficients and their association with global indexes of wave reflection in healthy controls and patients with Marfan's syndrome.
Segers P, De Backer J, Devos D, Rabben SI, Gillebert TC, Van Bortel LM, De Sutter J, De Paepe A, Verdonck PR. Segers P, et al. Among authors: de paepe a, de sutter j, de backer j. Am J Physiol Heart Circ Physiol. 2006 Jun;290(6):H2385-92. doi: 10.1152/ajpheart.01207.2005. Epub 2006 Jan 6. Am J Physiol Heart Circ Physiol. 2006. PMID: 16399860 Free article.
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Coucke PJ, et al. Among authors: de paepe a, de backer j. Nat Genet. 2006 Apr;38(4):452-7. doi: 10.1038/ng1764. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550171 Free article.
457 results