Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation

Por Nuytinck, L., Tukel, T., Kayserili, H., Apak, M. Y., De Paepe, A.
Publicado em 2000

Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

Por Symoens, S, Nuytinck, L, Legius, E, Malfait, F, Coucke, P, De Paepe, A
Publicado em 2004

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

Por De Paepe, A, Nuytinck, L, Hausser, I, Anton-Lamprecht, I, Naeyaert, J M
Publicado em 1997

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

Por MORTIER, G., NUYTINCK, L., CRAEN, M., RENARD, J., LEROY, J., DE PAEPE, A.
Publicado em 2000

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.

Por Nuytinck, L, Narcisi, P, Nicholls, A, Renard, J P, Pope, F M, De Paepe, A
Publicado em 1992

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteoge...

Por Körkkö, J, Ala-Kokko, L, De Paepe, A, Nuytinck, L, Earley, J, Prockop, D J
Publicado em 1998

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Por Mortier, G., Weis, M., Nuytinck, L., King, L., Wilkin, D., De Paepe, A., Lachman, R., Rimoin, D., Eyre, D., Cohn, D.
Publicado em 2000

Extremes of l-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene

Por Cedzynski, M, Nuytinck, L, Atkinson, A P M, St Swierzko, A, Zeman, K, Szemraj, J, Szala, A, Turner, M L, Kilpatrick, D C
Publicado em 2007

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

Por De Praeter CM, Gerwig, G J, Bause, E, Nuytinck, L K, Vliegenthart, J F, Breuer, W, Kamerling, J P, Espeel, M F, Martin, J J, De Paepe AM, Chan, N W, Dacremont, G A, Van Coster RN
Publicado em 2000

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Por Briggs, M D, Mortier, G R, Cole, W G, King, L M, Golik, S S, Bonaventure, J, Nuytinck, L, De Paepe, A, Leroy, J G, Biesecker, L, Lipson, M, Wilcox, W R, Lachman, R S, Rimoin, D L, Knowlton, R G, Cohn, D H
Publicado em 1998

Marfan Database (third edition): new mutations and new routines for the software.

Por Collod-Béroud, G, Béroud, C, Ades, L, Black, C, Boxer, M, Brock, D J, Holman, K J, de Paepe, A, Francke, U, Grau, U, Hayward, C, Klein, H G, Liu, W, Nuytinck, L, Peltonen, L, Alvarez Perez, A B, Rantamäki, T, Junien, C, Boileau, C
Publicado em 1998