Irvine AD - Search Results

1

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect.

Brown SJ, Kroboth K, Sandilands A, Campbell LE, Pohler E, Kezic S, Cordell HJ, McLean WH, Irvine AD. Brown SJ, et al. Among authors: irvine ad. J Invest Dermatol. 2012 Jan;132(1):98-104. doi: 10.1038/jid.2011.342. Epub 2011 Nov 10. J Invest Dermatol. 2012. PMID: 22071473 Free PMC article.

2

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.

Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH. Irvine AD, et al. Nat Genet. 1997 Jun;16(2):184-7. doi: 10.1038/ng0697-184. Nat Genet. 1997. PMID: 9171831

3

Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

Covello SP, Irvine AD, McKenna KE, Munro CS, Nevin NC, Smith FJ, Uitto J, McLean WH. Covello SP, et al. Among authors: irvine ad. J Invest Dermatol. 1998 Dec;111(6):1207-9. doi: 10.1046/j.1523-1747.1998.00445.x. J Invest Dermatol. 1998. PMID: 9856842 Free article.

4

A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1.

Smith FJ, McKenna KE, Irvine AD, Bingham EA, Coleman CM, Uitto J, McLean WH. Smith FJ, et al. Among authors: irvine ad. Exp Dermatol. 1999 Apr;8(2):109-14. doi: 10.1111/j.1600-0625.1999.tb00356.x. Exp Dermatol. 1999. PMID: 10232400

5

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.

Irvine AD, McLean WH. Irvine AD, et al. Br J Dermatol. 1999 May;140(5):815-28. doi: 10.1046/j.1365-2133.1999.02810.x. Br J Dermatol. 1999. PMID: 10354017 Review.

6

A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.

Irvine AD, Smith FJ, Shum KW, Williams HC, McLean WH. Irvine AD, et al. Clin Exp Dermatol. 2000 Nov;25(8):648-51. doi: 10.1046/j.1365-2230.2000.00728.x. Clin Exp Dermatol. 2000. PMID: 11167982

7

Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.

Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD. Terron-Kwiatkowski A, et al. Among authors: irvine ad. J Invest Dermatol. 2002 Oct;119(4):966-71. doi: 10.1046/j.1523-1747.2002.00186.x. J Invest Dermatol. 2002. PMID: 12406346 Free article.

8

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA. McLean WH, et al. Among authors: irvine ad. Hum Mol Genet. 2003 Sep 15;12(18):2395-409. doi: 10.1093/hmg/ddg234. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915477

9

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH. Smith FJ, et al. Among authors: irvine ad. Nat Genet. 2006 Mar;38(3):337-42. doi: 10.1038/ng1743. Epub 2006 Jan 29. Nat Genet. 2006. PMID: 16444271

10

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.

Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH. Palmer CN, et al. Among authors: irvine ad. Nat Genet. 2006 Apr;38(4):441-6. doi: 10.1038/ng1767. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550169

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