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Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence.
Published in:
BJU International, 2002, v. 90, n. 1, p. 76, doi. 10.1046/j.1464-410X.2002.02775.x
By:
- Loeys, B.;
- Hoebeke, P.;
- Raes, A.;
- Messiaen, L.;
- De Paepe, A.;
- Vande Walle, J.
Publication type:
Article
Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene.
Published in:
European Journal of Pediatrics, 2013, v. 172, n. 3, p. 409, doi. 10.1007/s00431-012-1802-9
By:
- Vallaeys, L.;
- Biervliet, S.;
- Bruyn, G.;
- Loeys, B.;
- Moring, A.;
- Deynse, E.;
- Cornette, L.
Publication type:
Article
Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.
Published in:
1999
By:
- Loeys, B. L.;
- Van Coster, R. N.;
- Defreyne, L. R.;
- Leroy, J. G.
Publication type:
journal article
Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.
Published in:
Clinical Genetics, 2017, v. 91, n. 3, p. 411, doi. 10.1111/cge.12853
By:
- Demirdas, S.;
- Dulfer, E.;
- Robert, L.;
- Kempers, M.;
- van Beek, D.;
- Micha, D.;
- van Engelen, B.G.;
- Hamel, B.;
- Schalkwijk, J.;
- Loeys, B.;
- Maugeri, A.;
- Voermans, N.C.
Publication type:
Article
The new Ghent criteria for Marfan syndrome: what do they change?
Published in:
Clinical Genetics, 2012, v. 81, n. 5, p. 433, doi. 10.1111/j.1399-0004.2011.01703.x
By:
- Faivre, L;
- Collod-Beroud, G;
- Adès, L;
- Arbustini, E;
- Child, A;
- Callewaert, BL;
- Loeys, B;
- Binquet, C;
- Gautier, E;
- Mayer, K;
- Arslan-Kirchner, M;
- Grasso, M;
- Beroud, C;
- Hamroun, D;
- Bonithon-Kopp, C;
- Plauchu, H;
- Robinson, PN;
- De Backer, J;
- Coucke, P;
- Francke, U
Publication type:
Article
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 258, doi. 10.1111/j.1399-0004.2009.01290.x
By:
- Saal, S.;
- Faivre, L.;
- Aral, Bernard;
- Gigot, N.;
- Toutain, A.;
- Van Maldergem, L.;
- Destree, A.;
- Maystadt, I.;
- Cosyns, J.-P.;
- Jouk, P.-S.;
- Loeys, B.;
- Chauveau, D.;
- Bieth, E.;
- Layet, V.;
- Mathieu, M.;
- Lespinasse, J.;
- Teebi, A.;
- Franco, B.;
- Gautier, E.;
- Binquet, C.
Publication type:
Article
Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.
Published in:
Clinical Genetics, 2007, v. 72, n. 3, p. 188, doi. 10.1111/j.1399-0004.2007.00845.x
By:
- De Backer, J.;
- Loeys, B.;
- Leroy, B.;
- Coucke, P.;
- Dietz, H.;
- De Paepe, A.
Publication type:
Article
The neuromuscular differential diagnosis of joint hypermobility.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2015, v. 169C, n. 1, p. 23, doi. 10.1002/ajmg.c.31433
By:
- Donkervoort, S.;
- Bonnemann, C.G.;
- Loeys, B.;
- Jungbluth, H.;
- Voermans, N.C.
Publication type:
Article
ERRATUM.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 285, doi. 10.1002/ajmg.a.37244
By:
- Donkervoort, S.;
- Bönnemann, C. G.;
- Loeys, B.;
- Jungbluth, H.;
- Voermans, N. C.
Publication type:
Article
Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS).
Published in:
2002
By:
- Loeys, B.;
- Nuytinck, L.;
- Van Acker, P.;
- Walraedt, S.;
- Bonduelle, M.;
- Sermon, K.;
- Hamel, B.;
- Sanchez, A.;
- Messiaen, L.;
- De Paepe, A.
Publication type:
journal article
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 4, p. 491, doi. 10.1038/ejhg.2008.207
By:
- Faivre, L.;
- Collod-Beroud, G.;
- Callewaert, B.;
- Child, A.;
- Binquet, C.;
- Gautier, E.;
- Loeys, B. .L;
- Arbustini, E.;
- Mayer, K.;
- Arslan-Kirchner, M.;
- Stheneur, C.;
- Kiotsekoglou, A.;
- Comeglio, P.;
- Marziliano, N.;
- Wolf, J. E.;
- Bouchot, O.;
- Khau-Van-Kien, P.;
- Beroud, C.;
- Claustres, M.;
- Bonithon-Kopp, C.
Publication type:
Article
Modeling of an SCN5A founder mutation in iPSC-derived cardiomyocytes.
Published in:
Cardiovascular Research, 2022, v. 118, p. 1, doi. 10.1093/cvr/cvac066.118
By:
- Simons, E;
- Nijak, A;
- Vandendriessche, B;
- Sande, D Van De;
- Sieliwonczyk, E;
- Labro, A J;
- Saenen, J;
- Snyders, D;
- Schepers, D;
- Loeys, B;
- Alaerts, M
Publication type:
Article
P149 Quality of Life in patients with Marfan syndrome included in a randomised controlled double-blind trial.
Published in:
2011
By:
- De Nobele, S.;
- Loeys, B.;
- De Paepe, A.;
- De Backer, J.
Publication type:
Journal Article
Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome.
Published in:
Science Translational Medicine, 2010, v. 2, n. 23, p. 1, doi. 10.1126/scitranslmed.3000488
By:
- Loeys, B. L.;
- Gerber, E. E.;
- Riegert-Johnson, D.;
- Iqbal, S.;
- Whiteman, P.;
- McConnell, V.;
- Chillakuri, C. R.;
- Macaya, D.;
- Coucke, P. J.;
- De Paepe, A.;
- Judge, D. P.;
- Wigley, F.;
- Davis, E. C.;
- Mardon, H. J.;
- Handford, P.;
- Keene, D. R.;
- Sakai, L. Y.;
- Dietz, H. C.
Publication type:
Article
Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.
Published in:
Human Mutation, 2004, v. 24, n. 2, p. 140, doi. 10.1002/humu.20070
By:
- Loeys, B.;
- De Backer, J.;
- Van Acker, P.;
- Wettinck, K.;
- Pals, G.;
- Nuytinck, L.;
- Coucke, P.;
- De Paepe, A.
Publication type:
Article
Investigating the role of hemodynamics in aaa formation through combined imaging and modeling: a longitudinal in-vivo study in apoe mice
Published in:
2010
By:
- Trachet, B.;
- Renard, M.;
- De Santis, G.;
- Staelens, S.;
- De Backer, J.;
- Loeys, B.;
- Segers, P.
Publication type:
Abstract
Marfan and Marfan-like syndromes
Published in:
Artery Research, 2009, v. 3, n. 1, p. 9, doi. 10.1016/j.artres.2009.01.003
By:
- De Backer, J.;
- Loeys, B.;
- De Paepe, A.
Publication type:
Article

Found: 17