Loeys B - Search Results

1

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.

Lafaut BA, Loeys B, Leroy BP, Spileers W, De Laey JJ, Kestelyn P. Lafaut BA, et al. Among authors: loeys b. Graefes Arch Clin Exp Ophthalmol. 2001 Aug;239(8):575-82. doi: 10.1007/s004170100318. Graefes Arch Clin Exp Ophthalmol. 2001. PMID: 11585313

2

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Yardley J, et al. Among authors: loeys b. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Invest Ophthalmol Vis Sci. 2004. PMID: 15452077

3

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart.

Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A. Vanakker OM, et al. Among authors: loeys b. Hum Mutat. 2008 Jan;29(1):205. doi: 10.1002/humu.9514. Hum Mutat. 2008. PMID: 18157818

4

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.

De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A. De Backer J, et al. Among authors: loeys b. Clin Genet. 2007 Sep;72(3):188-98. doi: 10.1111/j.1399-0004.2007.00845.x. Clin Genet. 2007. PMID: 17718856

5

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. Vanakker OM, et al. J Invest Dermatol. 2007 Mar;127(3):581-7. doi: 10.1038/sj.jid.5700610. Epub 2006 Nov 16. J Invest Dermatol. 2007. PMID: 17110937 Free article.

6

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, Depasse F, De Jaegere S, De Ravel T, De Rademaeker M, Loeys B, Coppieters F, Leroy BP, De Baere E. Bauwens M, et al. Among authors: loeys b. Hum Mutat. 2015 Jan;36(1):39-42. doi: 10.1002/humu.22716. Hum Mutat. 2015. PMID: 25346251

7

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. Among authors: loeys bl. Hum Mutat. 2008 Jan;29(1):150-8. doi: 10.1002/humu.20623. Hum Mutat. 2008. PMID: 17935213

8

Cutis laxa of the autosomal recessive type in a consanguineous family.

de Schepper S, Loeys B, de Paepe A, Lambert J, Naeyaert JM. de Schepper S, et al. Among authors: loeys b. Eur J Dermatol. 2003 Nov-Dec;13(6):529-33. Eur J Dermatol. 2003. PMID: 14721770

9

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.

Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z. Callewaert B, et al. Among authors: loeys b. Hum Mutat. 2011 Apr;32(4):445-55. doi: 10.1002/humu.21462. Epub 2011 Mar 1. Hum Mutat. 2011. PMID: 21309044 Free PMC article.

10

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.

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