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Items: 1 to 20 of 247

1.

Mutation of a type II keratin gene (K6a) in pachyonychia congenita.

Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ.

Nat Genet. 1995 Jul;10(3):363-5.

PMID:
7545493
2.

[Pachyonychia congenita. Keratin gene mutations with pleiotropic effect].

Swensson O.

Hautarzt. 1999 Jul;50(7):483-90. Review. German.

PMID:
10464680
3.
4.

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.

Nat Genet. 1995 Mar;9(3):273-8.

PMID:
7539673
5.

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.

Exp Dermatol. 1999 Apr;8(2):109-14.

PMID:
10232400
6.

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.

Smith FJ, Fisher MP, Healy E, Rees JL, Bonifas JM, Epstein EH Jr, Tan EM, Uitto J, McLean WH.

Exp Dermatol. 2000 Jun;9(3):170-7.

PMID:
10839714
7.

Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1.

Smith FJ, Del Monaco M, Steijlen PM, Munro CS, Morvay M, Coleman CM, Rietveld FJ, Uitto J, McLean WH.

Br J Dermatol. 1999 Dec;141(6):1010-6.

PMID:
10606845
8.

The genetic basis of pachyonychia congenita.

Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, Joval I, van Steensel MA, Björck E, Callif-Daley F, Pals G, Collins P, Leachman SA, Munro CS, McLean WH.

J Investig Dermatol Symp Proc. 2005 Oct;10(1):21-30. Review.

9.

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.

Br J Dermatol. 1998 Sep;139(3):475-80.

PMID:
9767294
10.

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.

Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ, Uliana V, Fimiani M, Lane EB, McLean WH, Leachman SA, Smith FJ.

J Dermatol Sci. 2007 Dec;48(3):199-205. Epub 2007 Aug 24.

PMID:
17719747
11.

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.

Smith FJ, McKusick VA, Nielsen K, Pfendner E, Uitto J, McLean WH.

Prenat Diagn. 1999 Oct;19(10):941-6.

PMID:
10521820
12.

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.

Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al.

Hum Mol Genet. 1995 Oct;4(10):1875-81.

PMID:
8595410
13.

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.

Hum Mol Genet. 1998 Jul;7(7):1143-8.

14.

Clinical and pathological features of pachyonychia congenita.

Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB.

J Investig Dermatol Symp Proc. 2005 Oct;10(1):3-17. Review.

15.

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH.

J Invest Dermatol. 2001 Dec;117(6):1391-6.

16.

Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2.

Ward KM, Cook-Bolden FE, Christiano AM, Celebi JT.

Clin Exp Dermatol. 2003 Jul;28(4):434-6.

PMID:
12823309
17.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

Exp Dermatol. 1996 Dec;5(6):297-307. Review.

PMID:
9028791
18.

Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts.

Feng YG, Xiao SX, Ren XR, Wang WQ, Liu A, Pan M.

Br J Dermatol. 2003 Mar;148(3):452-5.

PMID:
12653736
20.

[Type I pachyonychia congenita (Jadarssohn-Lewandowsky)].

Wimmershoff MB, Stolz W, Schiffner R, Landthaler M.

Klin Padiatr. 1999 May-Jun;211(3):179-83. German.

PMID:
10412130
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