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Similar articles for PubMed (Select 7539673)

1.

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
2.

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
3.

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
4.

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
5.
6.

Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.

Celebi JT, Tanzi EL, Yao YJ, Michael EJ, Peacocke M.

J Invest Dermatol. 1999 Nov;113(5):848-50.

7.

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.

J Invest Dermatol. 1997 Feb;108(2):220-3.

PMID:
9008238
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.

Novel keratin 17 mutations in pachyonychia congenita type 2.

Smith FJ, Coleman CM, Bayoumy NM, Tenconi R, Nelson J, David A, McLean WH.

J Invest Dermatol. 2001 May;116(5):806-8.

11.

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

Swensson O.

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

PMID:
10464680
12.

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.

13.

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.

14.

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
15.

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

McLean WH, Smith FJ, Cassidy AJ.

J Investig Dermatol Symp Proc. 2005 Oct;10(1):31-6. Review.

16.

A new type of pachyonychia congenita.

van Steensel MA, Smith FJ, Steijlen PM.

Eur J Dermatol. 2001 May-Jun;11(3):188-90.

PMID:
11358721
18.

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
19.

[A novel keratin 17 gene mutation in a Chinese pedigree of delayed-onset pachyonychia congenita type II].

Feng YG, Xiao SX, Li L, Wang JM, Tan SS, Shi YZ.

Zhonghua Yi Xue Za Zhi. 2003 Nov 10;83(21):1860-2. Chinese.

PMID:
14642066
20.

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
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