Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 17

1.

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration.

Pitcher A, Emberson J, Lacro RV, Sleeper LA, Stylianou M, Mahony L, Pearson GD, Groenink M, Mulder BJ, Zwinderman AH, De Backer J, De Paepe AM, Arbustini E, Erdem G, Jin XY, Flather MD, Mullen MJ, Child AH, Forteza A, Evangelista A, Chiu HH, Wu MH, Sandor G, Bhatt AB, Creager MA, Devereux RB, Loeys B, Forfar JC, Neubauer S, Watkins H, Boileau C, Jondeau G, Dietz HC, Baigent C.

Am Heart J. 2015 May;169(5):605-12. doi: 10.1016/j.ahj.2015.01.011. Epub 2015 Feb 12.

2.

First report of the genetic background of Marfan syndrome in Polish patients.

Wypasek E, Potaczek DP, Stąpor R, Coucke PJ, De Backer J, De Paepe AM, Undas A.

Pol Arch Med Wewn. 2013;123(11):646-7. No abstract available.

3.

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.

Orphanet J Rare Dis. 2013 Feb 25;8:36. doi: 10.1186/1750-1172-8-36.

4.

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.

Orphanet J Rare Dis. 2011 Dec 29;6:88. doi: 10.1186/1750-1172-6-88.

5.

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.

J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785.

PMID:
20591885
6.

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.

Eur J Hum Genet. 2010 Aug;18(8):895-901. doi: 10.1038/ejhg.2010.45. Epub 2010 Apr 14.

7.

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.

Hum Mutat. 2009 Mar;30(3):334-41. doi: 10.1002/humu.20854. Review.

PMID:
19006240
8.

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions.

Callewaert BL, Loeys BL, Casteleyn C, Willaert A, Dewint P, De Backer J, Sedlmeier R, Simoens P, De Paepe AM, Coucke PJ.

Genesis. 2008 Aug;46(8):385-9. doi: 10.1002/dvg.20409.

PMID:
18693279
9.

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.

Hum Mutat. 2008 Jan;29(1):150-8.

PMID:
17935213
10.

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.

N Engl J Med. 2006 Aug 24;355(8):788-98.

11.

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.

Int J Cardiol. 2006 Oct 10;112(3):353-8. Epub 2005 Nov 28.

PMID:
16316698
12.

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.

Nat Genet. 2005 Mar;37(3):275-81. Epub 2005 Jan 30.

PMID:
15731757
13.

Genetic fibrillinopathies: new insights in molecular diagnosis and clinical management.

Loeys BL, Matthys DM, de Paepe AM.

Acta Clin Belg. 2003 Jan-Feb;58(1):3-11. Review.

PMID:
12723256
14.

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.

De Praeter CM, Gerwig GJ, Bause E, Nuytinck LK, Vliegenthart JF, Breuer W, Kamerling JP, Espeel MF, Martin JJ, De Paepe AM, Chan NW, Dacremont GA, Van Coster RN.

Am J Hum Genet. 2000 Jun;66(6):1744-56. Epub 2000 Apr 28.

15.

Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT.

Villeirs GM, Van Tongerloo AJ, Verstraete KL, Kunnen MF, De Paepe AM.

Neuroradiology. 1999 Nov;41(11):850-4.

PMID:
10602862
16.

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

Mortier GR, Messiaen LM, Espeel M, Smets KJ, Vanzieleghem BD, Roels F, De Paepe AM.

Pediatr Radiol. 1998 Oct;28(10):790-3.

PMID:
9799302
17.

Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.

Buntinx IM, Willems PJ, Spitaels SE, Van Reempst PJ, De Paepe AM, Dumon JE.

J Med Genet. 1991 Apr;28(4):267-73.

Supplemental Content

Loading ...
Support Center