Smith FJ - Search Results

1

A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.

Terrinoni A, Puddu P, Didona B, De Laurenzi V, Candi E, Smith FJ, McLean WH, Melino G. Terrinoni A, et al. Among authors: smith fj. J Invest Dermatol. 2000 Jun;114(6):1136-40. doi: 10.1046/j.1523-1747.2000.00983.x. J Invest Dermatol. 2000. PMID: 10844556 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: smith fj. 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

A novel connexin 30 mutation in Clouston syndrome.

Smith FJ, Morley SM, McLean WH. Smith FJ, et al. 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.

4

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

Smith FJ, Morley SM, McLean WH. Smith FJ, et al. 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.

5

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.

McLean WH, Smith FJ, Cassidy AJ. McLean WH, et al. Among authors: smith fj. J Investig Dermatol Symp Proc. 2005 Oct;10(1):31-6. doi: 10.1111/j.1087-0024.2005.10205.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250207 Free article. Review.

6

Keratin K6c mutations cause focal palmoplantar keratoderma.

Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ. Wilson NJ, et al. Among authors: smith fj. J Invest Dermatol. 2010 Feb;130(2):425-9. doi: 10.1038/jid.2009.215. Epub 2009 Jul 16. J Invest Dermatol. 2010. PMID: 19609311 Free article.

7

A large mutational study in pachyonychia congenita.

Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ. Wilson NJ, et al. Among authors: smith fj. J Invest Dermatol. 2011 May;131(5):1018-24. doi: 10.1038/jid.2011.20. Epub 2011 Feb 17. J Invest Dermatol. 2011. PMID: 21326300 Free article.

8

The phenotypic and molecular genetic features of pachyonychia congenita.

McLean WH, Hansen CD, Eliason MJ, Smith FJ. McLean WH, et al. Among authors: smith fj. J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10.1038/jid.2011.59. Epub 2011 Mar 24. J Invest Dermatol. 2011. PMID: 21430705 Free article. Review.

9

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex.

Jonkman MF, Heeres K, Pas HH, van Luyn MJ, Elema JD, Corden LD, Smith FJ, McLean WH, Ramaekers FC, Burton M, Scheffer H. Jonkman MF, et al. Among authors: smith fj. J Invest Dermatol. 1996 Nov;107(5):764-9. doi: 10.1111/1523-1747.ep12365805. J Invest Dermatol. 1996. PMID: 8875963 Free article.

10

Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.

Smith FJ, Maingi C, Covello SP, Higgins C, Schmidt M, Lane EB, Uitto J, Leigh IM, McLean WH. Smith FJ, et al. J Invest Dermatol. 1998 Nov;111(5):817-21. doi: 10.1046/j.1523-1747.1998.00371.x. J Invest Dermatol. 1998. PMID: 9804344 Free article.

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