Porteous ME - Search Results

1

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

2

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.

3

Aarskog syndrome.

Porteous ME, Goudie DR. Porteous ME, et al. J Med Genet. 1991 Jan;28(1):44-7. doi: 10.1136/jmg.28.1.44. J Med Genet. 1991. PMID: 1999832 Free PMC article. No abstract available.

4

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.

5

Intelligence and development in Aarskog syndrome.

Logie LJ, Porteous ME. Logie LJ, et al. Among authors: porteous me. Arch Dis Child. 1998 Oct;79(4):359-60. doi: 10.1136/adc.79.4.359. Arch Dis Child. 1998. PMID: 9875050 Free PMC article.

6

Germline mutations in RAD51D confer susceptibility to ovarian cancer.

Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L; Breast Cancer Susceptibility Collaboration (UK); Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N. Loveday C, et al. Nat Genet. 2011 Aug 7;43(9):879-882. doi: 10.1038/ng.893. Nat Genet. 2011. PMID: 21822267 Free PMC article.

7

Evidence based medicine in practice: lessons from a Scottish clinical genetics project.

Campbell H, Bradshaw N, Davidson R, Dean J, Goudie D, Holloway S, Porteous M. Campbell H, et al. J Med Genet. 2000 Sep;37(9):684-91. doi: 10.1136/jmg.37.9.684. J Med Genet. 2000. PMID: 10978360 Free PMC article.

8

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 Free article.

9

Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland.

Holloway SM, Wilcox DE, Wilcox A, Dean JC, Berg JN, Goudie DR, Denvir MA, Porteous ME. Holloway SM, et al. Among authors: porteous me. Heart. 2008 May;94(5):633-6. doi: 10.1136/hrt.2007.125948. Epub 2007 Oct 11. Heart. 2008. PMID: 17932095

10

Mutation and association analysis of GEN1 in breast cancer susceptibility.

Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S, Warren-Perry M, Gareth Evans D, Eccles D; Breast Cancer Susceptibility Collaboration UK; Stratton MR, Rahman N. Turnbull C, et al. Breast Cancer Res Treat. 2010 Nov;124(1):283-8. doi: 10.1007/s10549-010-0949-1. Epub 2010 May 30. Breast Cancer Res Treat. 2010. PMID: 20512659 Free PMC article.

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