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332 results
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Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.
Raghunath M, Superti-Furga A, Godfrey M, Steinmann B. Raghunath M, et al. Among authors: godfrey m. Hum Genet. 1993 Jan;90(5):511-5. doi: 10.1007/BF00217450. Hum Genet. 1993. PMID: 8428751
Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy.
Schrijver I, Schievink WI, Godfrey M, Meyer FB, Francke U. Schrijver I, et al. Among authors: godfrey m. J Neurosurg. 2002 Mar;96(3):483-9. doi: 10.3171/jns.2002.96.3.0483. J Neurosurg. 2002. PMID: 11883832
Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome.
Ganesh A, Smith C, Chan W, Unger S, Quercia N, Godfrey M, Kraft S, Buncic R, Levin A. Ganesh A, et al. Among authors: godfrey m. Arch Ophthalmol. 2006 Feb;124(2):205-9. doi: 10.1001/archopht.124.2.205. Arch Ophthalmol. 2006. PMID: 16476890
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.
Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW. Lee B, et al. Among authors: godfrey m. Nature. 1991 Jul 25;352(6333):330-4. doi: 10.1038/352330a0. Nature. 1991. PMID: 1852206
Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.
Belleh S, Zhou G, Wang M, Der Kaloustian VM, Pagon RA, Godfrey M. Belleh S, et al. Among authors: godfrey m. Am J Med Genet. 2000 May 1;92(1):7-12. Am J Med Genet. 2000. PMID: 10797416
Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.
Wang M, Wang JY, Cisler J, Imaizumi K, Burton BK, Jones MC, Lamberti JJ, Godfrey M. Wang M, et al. Among authors: godfrey m. Hum Mutat. 1997;9(4):359-62. doi: 10.1002/(SICI)1098-1004(1997)9:4<359::AID-HUMU10>3.0.CO;2-1. Hum Mutat. 1997. PMID: 9101298 No abstract available.
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.
Wang M, Clericuzio CL, Godfrey M. Wang M, et al. Among authors: godfrey m. Am J Hum Genet. 1996 Nov;59(5):1027-34. Am J Hum Genet. 1996. PMID: 8900230 Free PMC article.
Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.
Wang M, Kishnani P, Decker-Phillips M, Kahler SG, Chen YT, Godfrey M. Wang M, et al. Among authors: godfrey m. J Med Genet. 1996 Sep;33(9):760-3. doi: 10.1136/jmg.33.9.760. J Med Genet. 1996. PMID: 8880577 Free PMC article.
An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.
Karttunen L, Lönnqvist L, Godfrey M, Peltonen L, Syvänen AC. Karttunen L, et al. Among authors: godfrey m. Genome Res. 1996 May;6(5):392-403. doi: 10.1101/gr.6.5.392. Genome Res. 1996. PMID: 8743989
Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.
Godfrey M, Vandemark N, Wang M, Velinov M, Wargowski D, Tsipouras P, Han J, Becker J, Robertson W, Droste S, et al. Godfrey M, et al. Am J Hum Genet. 1993 Aug;53(2):472-80. Am J Hum Genet. 1993. PMID: 8101042 Free PMC article.
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