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Kuroki, Y., Silberbach, M., Superti-Furga, A., Van Thienen, M., Vetter,
U., and Steinmann, B. Abnormal morphology of fibrillin microfibrils in
fibroblast cultures from patients with neonatal Marfan syndrome. Am. J.
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Schaefer, G.B. and Godfrey, M. Quantitation of
fibrillin immunofluorescence in fibroblast cultures in the Marfan
syndrome. Clinical Genetics 47: 144-149, 1995.
Wang, M., Price, C.E., Han, J., Cisler, J., Imaizumi,
K., Van Thienen, M.N., De Paepe, A., and Godfrey, M. Recurrent mis-splicing
of fibrillin exon 32 in two patients with neonatal Marfan syndrome.
Human Molecular Genetics 4:607-613, 1995.
Wang, M., Mata, J.E., Price, C.E., Iversen, P.L., and
Godfrey, M. Prenatal and presymptomatic diagnosis of the Marfan syndrome
using fluorescence PCR and an automated sequencer. Prenatal Diagnosis 15:499-507,
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Kilpatrick, M.W., Phylactou, L.A., Godfrey, M., Wu,
G.Y., Wu, C.H., and Tsipouras, P. Delivery of a hammerhead ribozyme
specifically down-regulates the production of fibrillin-1 by cultured
dermal fibroblasts. Human Molecular Genetics 5:1939-1944, 1996.
Karttunen, L., Lonnqvist, L., Godfrey, M., Peltonen,
L., and Syvanen, A-C. The effect of defined Marfan mutations upon the
abundance of steady-state mRNA derived from the wild-type and mutant
fibrillin-1 alleles and from the fibrillin-2 gene. Genome Research 6:
392-403, 1996.
Wang, M., Kishnani, P., Decker-Phillips, M., Kahler,
S.G., Chen, Y-T., and Godfrey, M. Double mutant allele in the FBN1 gene
in a case of neonatal Marfan syndrome. J. Med. Genet. 33:
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Wirtz, M.K., Samples, J.R., Kramer, P.L., Rust, K.,
Yount, J., Acott, T.S., Koler, R.D., Cisler, J., Jahed, A., Gorlin,
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autosomal dominant form to 15q21.1. Am. J. Med. Genet. 65: 68-75,
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Wang, M., Clericuzio, C.L., and Godfrey, M. Familial
occurrence of typical and severe lethal congenital contractural
arachnodactyly caused by mis-splicing of exon 34 of fibrillin-2 (FBN2).
Am. J. Hum. Genet. 59:1027-1034, 1996.
Wang, M., Wang, J-Y., Imaizumi, K., Burton, B.K.,
Jones, M.C., Lamberti, J.J., and Godfrey, M. Three novel fibrillin
mutations in exons 25 and 27: classical versus neonatal Marfan syndrome.
Human Mutation 9: 359-362, 1997.
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C., Boxer, M., Brock, D.J., Godfrey, M., Hayward, C., Karttunen, L.,
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Wang, M., Mathews, K.R., Imaizumi, K., Beiraghi, S.,
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Tiecke, F., Kaufmann, U.C., Vetter, U., Hagemeier, C., and Robinson,
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spots’ for the neonatal Marfan syndrome. Clinical Genetics 55:
110-7, 1999.
Zhou, G., Price, C.E., Rosenquist, T.H., Gadson, P.F.
and Godfrey, M. Partial cloning and sequencing of chick fibrillin-1 cDNA.
InVitro Cellular and Developmental Biology -Animal 36:19-25, 2000
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Available at http://www.geneclinics.org/profiles/cca (in press)
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