Irvine AD - Search Results

1

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, Campbell LE, Schmuth M, Gruber R, Janecke AR, Elias PM, van Steensel MA, Nagtzaam I, van Geel M, Steijlen PM, Munro CS, Bradley DG, Palmer CN, Smith FJ, McLean WH, Irvine AD. Sandilands A, et al. Among authors: irvine ad. Nat Genet. 2007 May;39(5):650-4. doi: 10.1038/ng2020. Epub 2007 Apr 8. Nat Genet. 2007. PMID: 17417636

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

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafé JL, Wilkinson J, Taïeb A, Barrandon Y, Harper JI, de Prost Y, Hovnanian A. Chavanas S, et al. Among authors: irvine ad. Nat Genet. 2000 Jun;25(2):141-2. doi: 10.1038/75977. Nat Genet. 2000. PMID: 10835624

7

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

8

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.

9

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

10

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.

Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Atherton DJ, Irvine AD, McLean WH. Terron-Kwiatkowski A, et al. Among authors: irvine ad. Br J Dermatol. 2004 Jun;150(6):1096-103. doi: 10.1111/j.1365-2133.2004.05967.x. Br J Dermatol. 2004. PMID: 15214894

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