Concepedia

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40

Frank Tiecke, Stefanie Katzke, Patrick Booms, Peter N. Robinson, Luitgard M. Neumann, Maurice Godfrey, Kurt R. Mathews, Maren T. Scheuner, Georg Klaus Hinkel, Rolf E. Brenner,

European Journal of Human Genetics · 2001 · 158 citations · 24 references

DOI

Concepts

References

24

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Harry C. Dietz, Carry Cutting, Reed E. Pyeritz et al. · Nature · 1991 · 2.1K citations

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International nosology of heritable disorders of connective tissue, Berlin, 1986

Peter Beighton, A. De Paepe, D. M. Danks et al. · American Journal of Medical Genetics · 1988 · 733 citations

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[30] Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

Leonard S. Lerman, K. Silverstein · Methods in enzymology on CD-ROM/Methods in enzymology · 1987 · 484 citations

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Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome

Lygia V. Pereira, Marina D’Alessio, Francesco Ramirez et al. · Human Molecular Genetics · 1993 · 315 citations

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Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

Dianna M. Milewicz, Reed E. Pyeritz, E. Stanley Crawford et al. · Journal of Clinical Investigation · 1992 · 270 citations · Full text

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