Ursula C. Kaufmann

Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

P. Robinson, T. Rosenberg, C. Nienaber, 2000, American journal of medical genetics.

Novel exon skipping mutation in the fibrillin‐1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome

P. Robinson, C. Hagemeier, P. Booms, 1999, Clinical genetics.

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

P. Robinson, C. Hagemeier, P. Booms, 1997, Human Genetics.

Importance of dural ectasia in phenotypic assessment of M arfan's syndrome

R. Fattori, G. Gensini, P. Ambrosetto, 1999, The Lancet.