McLean WH - Search Results

1

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

McLean WH, Eady RA, Dopping-Hepenstal PJ, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM, et al. McLean WH, et al. J Invest Dermatol. 1994 Jan;102(1):24-30. doi: 10.1111/1523-1747.ep12371726. J Invest Dermatol. 1994. PMID: 7507152 Free article.

2

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA. Whittock NV, et al. Among authors: mclean wh. J Invest Dermatol. 2002 May;118(5):838-44. doi: 10.1046/j.1523-1747.2002.01750.x. J Invest Dermatol. 2002. PMID: 11982762 Free article.

3

Ichthyosis bullosa of Siemens--a disease involving keratin 2e.

McLean WH, Morley SM, Lane EB, Eady RA, Griffiths WA, Paige DG, Harper JI, Higgins C, Leigh IM. McLean WH, et al. J Invest Dermatol. 1994 Sep;103(3):277-81. doi: 10.1111/1523-1747.ep12394307. J Invest Dermatol. 1994. PMID: 7521371 Free article.

4

A functional "knockout" of human keratin 14.

Rugg EL, McLean WH, Lane EB, Pitera R, McMillan JR, Dopping-Hepenstal PJ, Navsaria HA, Leigh IM, Eady RA. Rugg EL, et al. Among authors: mclean wh. Genes Dev. 1994 Nov 1;8(21):2563-73. doi: 10.1101/gad.8.21.2563. Genes Dev. 1994. PMID: 7525407 Free article.

5

Keratin 16 and keratin 17 mutations cause pachyonychia congenita.

McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJ, Griffiths WA, Eady RA, Higgins C, et al. McLean WH, et al. Nat Genet. 1995 Mar;9(3):273-8. doi: 10.1038/ng0395-273. Nat Genet. 1995. PMID: 7539673

6

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.

Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH. Smith FJ, et al. Among authors: mclean wh. J Invest Dermatol. 1997 Feb;108(2):220-3. doi: 10.1111/1523-1747.ep12335315. J Invest Dermatol. 1997. PMID: 9008238 Free article.

7

Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma.

McLean WH, Morley SM, Higgins C, Bowden PE, White M, Leigh IM, Lane EB. McLean WH, et al. Exp Dermatol. 1999 Apr;8(2):120-3. doi: 10.1111/j.1600-0625.1999.tb00358.x. Exp Dermatol. 1999. PMID: 10232402

8

A novel connexin 30 mutation in Clouston syndrome.

Smith FJ, Morley SM, McLean WH. Smith FJ, et al. Among authors: mclean wh. J Invest Dermatol. 2002 Mar;118(3):530-2. doi: 10.1046/j.0022-202x.2001.01689.x. J Invest Dermatol. 2002. PMID: 11874494 Free article.

9

Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex.

Smith FJ, Morley SM, McLean WH. Smith FJ, et al. Among authors: mclean wh. J Invest Dermatol. 2004 Jan;122(1):73-7. doi: 10.1046/j.0022-202X.2003.22129.x. J Invest Dermatol. 2004. PMID: 14962092 Free article.

10

Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.

Navsaria HA, Swensson O, Ratnavel RC, Shamsher M, McLean WH, Lane EB, Griffiths D, Eady RA, Leigh IM. Navsaria HA, et al. Among authors: mclean wh. J Invest Dermatol. 1995 Mar;104(3):425-9. doi: 10.1111/1523-1747.ep12666011. J Invest Dermatol. 1995. PMID: 7532198 Free article.

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