Smith FJ - Search Results

1

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.

van Steensel M, Smith FJ, Steijlen PM, Kluijt I, Stevens HP, Messenger A, Kremer H, Dunnill MG, Kennedy C, Munro CS, Doherty VR, McGrath JA, Covello SP, Coleman CM, Uitto J, McLean WH. van Steensel M, et al. Among authors: smith fj. Am J Hum Genet. 1999 Aug;65(2):413-9. doi: 10.1086/302506. Am J Hum Genet. 1999. PMID: 10417283 Free PMC article.

2

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.

Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH. Smith FJ, et al. Hum Mol Genet. 1998 Jul;7(7):1143-8. doi: 10.1093/hmg/7.7.1143. Hum Mol Genet. 1998. PMID: 9618173

3

A new type of pachyonychia congenita.

van Steensel MA, Smith FJ, Steijlen PM. van Steensel MA, et al. Among authors: smith fj. Eur J Dermatol. 2001 May-Jun;11(3):188-90. Eur J Dermatol. 2001. PMID: 11358721

4

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH. Siegel DH, et al. Among authors: smith fj. Am J Hum Genet. 2003 Jul;73(1):174-87. doi: 10.1086/376609. Epub 2003 Jun 3. Am J Hum Genet. 2003. PMID: 12789646 Free PMC article.

5

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.

Pulkkinen L, Smith FJ, Shimizu H, Murata S, Yaoita H, Hachisuka H, Nishikawa T, McLean WH, Uitto J. Pulkkinen L, et al. Among authors: smith fj. Hum Mol Genet. 1996 Oct;5(10):1539-46. doi: 10.1093/hmg/5.10.1539. Hum Mol Genet. 1996. PMID: 8894687

6

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. Among authors: smith fj. Nat Genet. 1997 Jun;16(2):184-7. doi: 10.1038/ng0697-184. Nat Genet. 1997. PMID: 9171831

7

Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations.

Dang M, Pulkkinen L, Smith FJ, McLean WH, Uitto J. Dang M, et al. Among authors: smith fj. Lab Invest. 1998 Feb;78(2):195-204. Lab Invest. 1998. PMID: 9484717 Review.

8

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WH. Covello SP, et al. Among authors: smith fj. Br J Dermatol. 1998 Sep;139(3):475-80. doi: 10.1046/j.1365-2133.1998.02413.x. Br J Dermatol. 1998. PMID: 9767294

9

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.

10

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: smith fj. 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.

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