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94 results
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Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.
Hayward C, Porteous ME, Brock DJ. Hayward C, et al. Among authors: porteous me. Hum Mutat. 1994;3(2):159-62. doi: 10.1002/humu.1380030212. Hum Mutat. 1994. PMID: 7911051 No abstract available.
Association of less common cystic fibrosis mutations with a mild phenotype.
Curtis A, Nelson R, Porteous M, Burn J, Bhattacharya SS. Curtis A, et al. J Med Genet. 1991 Jan;28(1):34-7. doi: 10.1136/jmg.28.1.34. J Med Genet. 1991. PMID: 1999830 Free PMC article.
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
Hayward C, Porteous ME, Brock DJ. Hayward C, et al. Among authors: porteous me. Mol Cell Probes. 1994 Aug;8(4):325-7. doi: 10.1006/mcpr.1994.1045. Mol Cell Probes. 1994. PMID: 7870075
Prenatal diagnosis of fragile X syndrome: management of the male fetus with a premutation.
Strain L, Porteous ME, Gosden CM, Ellis PM, Neilson JP, Bonthron DT. Strain L, et al. Among authors: porteous me. Prenat Diagn. 1994 Jun;14(6):469-74. doi: 10.1002/pd.1970140610. Prenat Diagn. 1994. PMID: 7937584
Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.
Hayward C, Rae AL, Porteous ME, Logie LJ, Brock DJ. Hayward C, et al. Among authors: porteous me. Hum Mol Genet. 1994 Feb;3(2):373-5. doi: 10.1093/hmg/3.2.373. Hum Mol Genet. 1994. PMID: 8004112 No abstract available.
A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.
Barron LH, Warner JP, Porteous M, Holloway S, Simpson S, Davidson R, Brock DJ. Barron LH, et al. J Med Genet. 1993 Dec;30(12):1003-7. doi: 10.1136/jmg.30.12.1003. J Med Genet. 1993. PMID: 8133495 Free PMC article.
Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.
McAllister KA, Baldwin MA, Thukkani AK, Gallione CJ, Berg JN, Porteous ME, Guttmacher AE, Marchuk DA. McAllister KA, et al. Among authors: porteous me. Hum Mol Genet. 1995 Oct;4(10):1983-5. doi: 10.1093/hmg/4.10.1983. Hum Mol Genet. 1995. PMID: 8595426 No abstract available.
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
Hayward C, Porteous ME, Brock DJ. Hayward C, et al. Among authors: porteous me. Hum Mutat. 1997;10(4):280-9. doi: 10.1002/(SICI)1098-1004(1997)10:4<280::AID-HUMU3>3.0.CO;2-L. Hum Mutat. 1997. PMID: 9338581
Presymptomatic testing for Huntington's disease by linkage and by direct mutation analysis: comparison of uptake of testing and characteristics of test applicants.
Holloway SM, Porteous ME, Fitzpatrick DR, Crosbie AE, Cetnarskyj R, Warner J, Barron L. Holloway SM, et al. Among authors: porteous me. Genet Couns. 1998;9(2):103-11. Genet Couns. 1998. PMID: 9664206
Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis.
Bradshaw N, Brewer C, FitzPatrick D, Murray G, Rodgers F, Porteous M, Campbell H. Bradshaw N, et al. Eur J Hum Genet. 1998 Sep-Oct;6(5):445-58. doi: 10.1038/sj.ejhg.5200208. Eur J Hum Genet. 1998. PMID: 9801869
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