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94 results
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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
The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).
Porteous ME, Curtis A, Lindsay S, Williams O, Goudie D, Kamakari S, Bhattacharya SS. Porteous ME, et al. Genomics. 1992 Oct;14(2):298-301. doi: 10.1016/s0888-7543(05)80219-8. Genomics. 1992. PMID: 1427846
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
Genetic heterogeneity in hereditary haemorrhagic telangiectasia.
Porteous ME, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Burn J. Porteous ME, et al. J Med Genet. 1994 Dec;31(12):925-6. doi: 10.1136/jmg.31.12.925. J Med Genet. 1994. PMID: 7891373 Free PMC article.
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.
Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor.
Pasteris NG, Cadle A, Logie LJ, Porteous ME, Schwartz CE, Stevenson RE, Glover TW, Wilroy RS, Gorski JL. Pasteris NG, et al. Among authors: porteous me. Cell. 1994 Nov 18;79(4):669-78. doi: 10.1016/0092-8674(94)90552-5. Cell. 1994. PMID: 7954831
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.
Agnathia-holoprosencephaly: a new recessive syndrome?
Porteous ME, Wright C, Smith D, Burn J. Porteous ME, et al. Clin Dysmorphol. 1993 Apr;2(2):161-4. Clin Dysmorphol. 1993. PMID: 8281280
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