Concepedia

Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature

Nicole Revençu, Geneviève Quenum, Thierry Detaille, Gaston Verellen, Anne De Paepe, Christine Verellen‐Dumoulin

European Journal of Pediatrics · 2003 · 41 citations · 35 references

DOI

Concepts

References

35

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

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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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Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

Lynn Y. Sakai, Douglas R. Keene, Eva Engvall · The Journal of Cell Biology · 1986 · 1.1K citations · Full text

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Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Arupa Ganguly, Matthew J. Rock, Darwin J. Prockop · Proceedings of the National Academy of Sciences · 1993 · 677 citations

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Solution Structure of a Pair of Calcium-Binding Epidermal Growth Factor-like Domains: Implications for the Marfan Syndrome and Other Genetic Disorders

A. Kristina Downing, Vroni Knott, Jörn M. Werner et al. · Cell · 1996 · 449 citations · Full text

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