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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: callewaert b. Nat Genet. 2006 Apr;38(4):452-7. doi: 10.1038/ng1764. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550171 Free article.
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. Callewaert BL, et al. Hum Mutat. 2008 Jan;29(1):150-8. doi: 10.1002/humu.20623. Hum Mutat. 2008. PMID: 17935213
Ehlers-Danlos syndromes and Marfan syndrome.
Callewaert B, Malfait F, Loeys B, De Paepe A. Callewaert B, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):165-89. doi: 10.1016/j.berh.2007.12.005. Best Pract Res Clin Rheumatol. 2008. PMID: 18328988 Review.
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. Hum Mutat. 2009 Mar;30(3):334-41. doi: 10.1002/humu.20854. Hum Mutat. 2009. PMID: 19006240 Review.
Unusual 8p inverted duplication deletion with telomere capture from 8q.
Buysse K, Antonacci F, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B. Buysse K, et al. Among authors: callewaert b. Eur J Med Genet. 2009 Jan-Feb;52(1):31-6. doi: 10.1016/j.ejmg.2008.10.007. Epub 2008 Nov 17. Eur J Med Genet. 2009. PMID: 19041960
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
Renard M, Holm T, Veith R, Callewaert BL, Adès LC, Baspinar O, Pickart A, Dasouki M, Hoyer J, Rauch A, Trapane P, Earing MG, Coucke PJ, Sakai LY, Dietz HC, De Paepe AM, Loeys BL. Renard M, et al. Eur J Hum Genet. 2010 Aug;18(8):895-901. doi: 10.1038/ejhg.2010.45. Epub 2010 Apr 14. Eur J Hum Genet. 2010. PMID: 20389311 Free PMC article.
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: callewaert bl. J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785. J Med Genet. 2010. PMID: 20591885
159 results