Search Results - "NUYTINCK, L"

The development of the Belgian paediatric clinical trial network by Degraeuwe, E, Persijn, L, Nuytinck, L, Allegaert, K, De Taeye, L, Gasthuys, E, Christiaens, D, Karamaria, S, Raes, A, Turner, M, Vande Walle, J

“…Paediatric clinical trials are critical to ensure that medications prescribed to children are safe and effective. However, evidence-based dosing and labelling…”
Get full text

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome by Loeys, B., De Backer, J., Van Acker, P., Wettinck, K., Pals, G., Nuytinck, L., Coucke, P., De Paepe, A.

“…In order to estimate the contribution of mutations at the fibrillin‐1 locus (FBN1) to classical Marfan syndrome (MFS) and to study possible phenotypic…”
Get full text

Genetic variations in toll-like receptor pathway and lung function decline in Cystic Fibrosis patients by 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

“…Abstract The toll-like receptor (TLR) family maintains pulmonary homeostasis by pathogen recognition, clearance and regulation of inflammation. Genes affecting…”
Get full text

Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis by Vander Cruyssen, B., Nuytinck, L., Boullart, L., Elewaut, D., Waegeman, W., Van Thielen, M., De Meester, E., Lebeer, K., Rossau, R., De Keyser, F.

“…Objectives. We investigated the possible association of rheumatoid arthritis (RA) with single nucleotide polymorphisms (SNP) within the ficolin (FCN) genes…”
Get full text

Extremes of l‐ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene by Cedzynski, M., Nuytinck, L., Atkinson, A. P. M., St Swierzko, A., Zeman, K., Szemraj, J., Szala, A., Turner, M. L., Kilpatrick, D. C.

“…Summary l‐ficolin (also called ficolin‐2, P35 or hucolin) is a soluble pattern recognition molecule of suspected importance in anti‐microbial immunity. It…”
Get full text

Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene by 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.

“…Ehlers–Danlos syndrome (EDS) type VIIC, or dermatosparactic type, is a recessively inherited connective tissue disorder characterized, among other symptoms, by…”
Get full text

A Novel Disorder Caused by Defective Biosynthesis of N-Linked Oligosaccharides Due to Glucosidase I Deficiency by 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.

“…Glucosidase I is an important enzyme in N-linked glycoprotein processing, removing specifically distal α-1,2–linked glucose from the Glc 3Man 9GlcNAc 2…”
Get full text

Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen by Nuytinck, Lieve, Freund, Margarida, Lagae, Lieven, Pierard, Gerald E., Hermanns-Le, Trinh, De Paepe, Anne

“…Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring…”
Get full text

Association of the type I collagen alpha1 Sp1 polymorphism, bone density and upper limb muscle strength in community-dwelling elderly men by Van Pottelbergh, I, Goemaere, S, Nuytinck, L, De Paepe, A, Kaufman, J M

“…A polymorphic binding site of the Sp1 transcription factor in the gene encoding the alpha1 chain of type I collagen is associated with bone mineral density…”
Get full text

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 by Symoens, S, Nuytinck, L, Legius, E, Malfait, F, Coucke, P J, De Paepe, A

Get full text

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

“…Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the…”
Get full text

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome by Loeys, B, Nuytinck, L, Delvaux, I, De Bie, S, De Paepe, A

“…Marfan syndrome (MFS) is an underrecognized heritable connective tissue disorder resulting from mutations in the gene for fibrillin-1 (FBN1). Affected patients…”
Get more information

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene by MORTIER, GEERT, NUYTINCK, LIEVE, CRAEN, MARGARITA, RENARD, JEAN-PIERRE, LEROY, JULES G, DE PAEPE, ANNE

Get full text

Strategies for prenatal and preimplantation genetic diagnosis in Marfan syndrome (MFS) by Loeys, B., Nuytinck, L., Van Acker, P., Walraedt, S., Bonduelle, M., Sermon, K., Hamel, B., Sanchez, A., Messiaen, L., De Paepe, A.

“…Marfan syndrome (MFS) is an autosomal dominant disorder with a prevalence of 2–3 per 10 000 individuals. Symptoms range from skeletal overgrowth, cutaneous…”
Get full text

Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis by Nusgens, B. V, Piérard, G.E, Hermanns-Lê, T, Lapière, Ch. M, Nuytinck, L, Verellen-Dumoulin, Ch, De Paepe, A

“…Ehlers-Danlos (ED) syndrome type VII is characterized by the accumulation of collagen precursors in connective tissues. ED VII A and B are caused by mutations…”
Get full text

Preterm premature rupture of membranes in a patient with the hypermobility type of the Ehlers-Danlos syndrome. A case report by De Vos, M, Nuytinck, L, Verellen, C, De Paepe, A

“…This report wants to focus on the risk of severe prematurity in patients with the hypermobility type of the Ehlers-Danlos syndrome (EDS), a heritable disorder…”
Get more information

Heritable collagen disorders: from genotype to phenotype by De Paepe, A, Nuytinck, L

Get full text

A four base pair insertion polymorphism in the 3′ untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I by Nuytinck, L., Coppin, C., De Paepe, A.

“…In patients with osteogenesis imperfecta (OI) type I, a decrease in synthesis of type I collagen is usually observed as a result of a COL1A1 null allele…”
Get full text

Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene by Jansen, T., De Paepe, A., Nuytinck, L., Altmeyer, P.

Get full text

Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation by Nuytinck, Lieve, Tükel, Turgut, Kayserili, Hülya, Apak, Memnune Yüksel, De Paepe, Anne

“…We report a unique glycine substitution in type I collagen and highlight the clinical and biochemical consequences. The proband is a 9 year old Turkish boy…”
Get full text