Authors: Robinson, PN Booms, P

Citation: Pn. Robinson et P. Booms, The molecular pathogenesis of the Marfan syndrome, CELL MOL L, 58(11), 2001, pp. 1698-1707

Authors: Tiecke, F Katzke, S Booms, P Robinson, PN Neumann, L Godfrey, M Mathews, KR Scheuner, M Hinkel, GK Brenner, RE Hovels-Gurich, HH Hagemeier, C Fuchs, J Skovby, F Rosenberg, T

Citation: F. Tiecke et al., Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40, EUR J HUM G, 9(1), 2001, pp. 13-21

Authors: Booms, P Tiecke, F Rosenberg, T Hagemeier, C Robinson, PN

Citation: P. Booms et al., Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments, HUM GENET, 107(3), 2000, pp. 216-224

Authors: Palz, M Tiecke, F Booms, P Goldner, B Rosenberg, T Fuchs, J Skovby, F Schumacher, H Kaufmann, UC von Kodolitsch, Y Nienaber, CA Leitner, C Katzke, S Vetter, B Hagemeier, C Robinson, PN

Citation: M. Palz et al., Clustering of mutations associated with mild Marfan-like phenotypes in the3 ' region of FBN1 suggests a potential genotype-phenotype correlation, AM J MED G, 91(3), 2000, pp. 212-221

Authors: Booms, P Cisler, J Mathews, KR Godfrey, M Tiecke, F Kaufmann, UC Vetter, U Hagemeier, C Robinson, PN

Citation: P. Booms et al., Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome, CLIN GENET, 55(2), 1999, pp. 110-117