The development of the Belgian paediatric clinical trial network
Degraeuwe, E, Persijn, L, Nuytinck, L, Allegaert, K, De Taeye, L, Gasthuys, E, Christiaens, D, Karamaria, S, Raes, A, Turner, M, Vande Walle, J
Published in Acta clinica belgica (English ed. Online) (01.02.2024)
Published in Acta clinica belgica (English ed. Online) (01.02.2024)
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Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome
Loeys, B., De Backer, J., Van Acker, P., Wettinck, K., Pals, G., Nuytinck, L., Coucke, P., De Paepe, A.
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients
Haerynck, F, Mahachie John, J.M, Van Steen, K, Schelstraete, P, Van daele, S, Loeys, B, Van Thielen, M, De Canck, I, Nuytinck, L, De Baets, F
Published in Human immunology (01.12.2013)
Published in Human immunology (01.12.2013)
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Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis
Vander Cruyssen, B., Nuytinck, L., Boullart, L., Elewaut, D., Waegeman, W., Van Thielen, M., De Meester, E., Lebeer, K., Rossau, R., De Keyser, F.
Published in Rheumatology (Oxford, England) (01.12.2007)
Published in Rheumatology (Oxford, England) (01.12.2007)
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Extremes of l‐ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene
Cedzynski, M., Nuytinck, L., Atkinson, A. P. M., St Swierzko, A., Zeman, K., Szemraj, J., Szala, A., Turner, M. L., Kilpatrick, D. C.
Published in Clinical and experimental immunology (01.10.2007)
Published in Clinical and experimental immunology (01.10.2007)
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Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene
Colige, Alain, Nuytinck, Lieve, Hausser, Ingrid, van Essen, Anthonie J., Thiry, Marc, Herens, Christian, Adès, Lesley C., Malfait, Fransiska, Paepe, Anne De, Franck, Peter, Wolff, Gerhard, Oosterwijk, Jan C., Sillevis Smitt, J.H., Lapière, Charles M., Nusgens, Betty V.
Published in Journal of investigative dermatology (01.10.2004)
Published in Journal of investigative dermatology (01.10.2004)
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A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency
De Praeter, Claudine M., Gerwig, Gerrit J., Bause, Ernst, Nuytinck, Lieve K., Vliegenthart, Johannes F.G., Breuer, Wilhelm, Kamerling, Johannis P., Espeel, Marc F., Martin, Jean-Jacques R., De Paepe, Anne M., Chan, Nora Wen Chun, Dacremont, Georges A., Van Coster, Rudy N.
Published in American journal of human genetics (01.06.2000)
Published in American journal of human genetics (01.06.2000)
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Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen
Nuytinck, Lieve, Freund, Margarida, Lagae, Lieven, Pierard, Gerald E., Hermanns-Le, Trinh, De Paepe, Anne
Published in American journal of human genetics (01.04.2000)
Published in American journal of human genetics (01.04.2000)
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Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype
Symoens, S, Nuytinck, L, Legius, E, Malfait, F, Coucke, P J, De Paepe, A
Published in Journal of medical genetics (01.07.2004)
Published in Journal of medical genetics (01.07.2004)
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Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder
MORTIER, G. R, WEIS, M, NUYTINCK, L, KING, L. M, WILKIN, D. J, DE PAEPE, A, LACHMAN, R. S, RIMOIN, D. L, EYRE, D. R, COHN, D. H
Published in Journal of medical genetics (01.04.2000)
Published in Journal of medical genetics (01.04.2000)
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Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome
Loeys, B, Nuytinck, L, Delvaux, I, De Bie, S, De Paepe, A
Published in Archives of internal medicine (1960) (12.11.2001)
Published in Archives of internal medicine (1960) (12.11.2001)
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Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
MORTIER, GEERT, NUYTINCK, LIEVE, CRAEN, MARGARITA, RENARD, JEAN-PIERRE, LEROY, JULES G, DE PAEPE, ANNE
Published in Journal of medical genetics (01.03.2000)
Published in Journal of medical genetics (01.03.2000)
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Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS)
Loeys, B., Nuytinck, L., Van Acker, P., Walraedt, S., Bonduelle, M., Sermon, K., Hamel, B., Sanchez, A., Messiaen, L., De Paepe, A.
Published in Prenatal diagnosis (01.01.2002)
Published in Prenatal diagnosis (01.01.2002)
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Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis
Nusgens, B. V, Piérard, G.E, Hermanns-Lê, T, Lapière, Ch. M, Nuytinck, L, Verellen-Dumoulin, Ch, De Paepe, A
Published in Nature genetics (01.06.1992)
Published in Nature genetics (01.06.1992)
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