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332 results
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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.
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
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G. Frédéric MY, et al. Among authors: godfrey m. Hum Mutat. 2009 Feb;30(2):181-90. doi: 10.1002/humu.20794. Hum Mutat. 2009. PMID: 18767143
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
Partial cloning and sequencing of chick fibrillin-1 cDNA.
Zhou G, Price CE, Rosenquist TH, Gadson PF, Godfrey M. Zhou G, et al. Among authors: godfrey m. In Vitro Cell Dev Biol Anim. 2000 Jan;36(1):19-25. doi: 10.1290/1071-2690(2000)036<0019:pcasoc>2.0.co;2. In Vitro Cell Dev Biol Anim. 2000. PMID: 10691037
Prenatal diagnosis in congenital contractural arachnodactyly.
Belleh S, Spooner L, Allanson J, Godfrey M. Belleh S, et al. Among authors: godfrey m. Genet Test. 1997-1998;1(4):293-6. doi: 10.1089/gte.1997.1.293. Genet Test. 1997. PMID: 10464661
Prenatal and presymptomatic diagnosis of Marfan syndrome using fluorescence PCR and an automated sequencer.
Wang M, Godfrey M. Wang M, et al. Among authors: godfrey m. Methods Mol Biol. 1998;92:49-54. doi: 10.1385/0-89603-497-6:49. Methods Mol Biol. 1998. PMID: 9664502 No abstract available.
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.
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
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