Lieve Nuytinck

Comprehensive molecular screening of the<i>FBN1</i>gene favors locus homogeneity of classical Marfan syndrome

Bart Loeys, Julie De Backer, Petra Van Acker et al. · Human Mutation · 2004 · 227 citations

Life Sciences, Genetics, Molecular Genetics +12

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

Claudine M. De Praeter, Gerrit J. Gerwig, Ernst Bause et al. · The American Journal of Human Genetics · 2000 · 191 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

Michael D. Briggs, Geert Mortier, William G. Cole et al. · The American Journal of Human Genetics · 1998 · 184 citations · Full text

Medicine, Genetics, Molecular Genetics +13

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 Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations

Jarmo Körkkö, Leena Ala‐Kokko, Anne De Paepe et al. · The American Journal of Human Genetics · 1998 · 179 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

Lieve Nuytinck, M. Freund, Lieven Lagae et al. · The American Journal of Human Genetics · 2000 · 178 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11