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Items: 1 to 20 of 28

1.

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
2.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

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

PMID:
9028791
3.

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

Swensson O.

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

PMID:
10464680
4.

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.

5.

The molecular genetics of keratin disorders.

Smith F.

Am J Clin Dermatol. 2003;4(5):347-64. Review.

PMID:
12688839
6.

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.

7.

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas.

Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, Marger D, Marger RS, Leigh IM.

Arch Dermatol. 1996 Jun;132(6):640-51. Review.

PMID:
8651714
8.

The phenotypic and molecular genetic features of pachyonychia congenita.

McLean WH, Hansen CD, Eliason MJ, Smith FJ.

J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10.1038/jid.2011.59. Epub 2011 Mar 24. Review.

9.

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.

10.

Keratin disorders: from gene to therapy.

McLean WH, Moore CB.

Hum Mol Genet. 2011 Oct 15;20(R2):R189-97. doi: 10.1093/hmg/ddr379. Epub 2011 Sep 2. Review.

11.
12.

Mouse models in preclinical studies for pachyonychia congenita.

Chen J, Roop DR.

J Investig Dermatol Symp Proc. 2005 Oct;10(1):37-46. Review.

13.

[Keratin k6c mutations in focal palmoplantar keratoderma].

Dereure O.

Ann Dermatol Venereol. 2010 May;137(5):423-4. doi: 10.1016/j.annder.2010.03.018. Epub 2010 Apr 24. Review. French. No abstract available.

PMID:
20470930
14.

Keratin gene mutations in disorders of human skin and its appendages.

Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H.

Arch Biochem Biophys. 2011 Apr 15;508(2):123-37. doi: 10.1016/j.abb.2010.12.019. Epub 2010 Dec 19. Review.

15.

Keratins and skin disorders.

Lane EB, McLean WH.

J Pathol. 2004 Nov;204(4):355-66. Review.

PMID:
15495218
16.

Treatment of pachyonychia congenita.

Milstone LM, Fleckman P, Leachman SA, Leigh IM, Paller AS, van Steensel MA, Swartling C.

J Investig Dermatol Symp Proc. 2005 Oct;10(1):18-20. Review.

17.

Genetic disorders of palm skin and nail.

McLean WH; Epithelial Genetics Group.

J Anat. 2003 Jan;202(1):133-41. Review.

18.

Gene therapy for autosomal dominant disorders of keratin.

Lewin AS, Glazer PM, Milstone LM.

J Investig Dermatol Symp Proc. 2005 Oct;10(1):47-61. Review.

19.

[Palmoplantar keratosis].

Nagai H, Emi M.

Nihon Rinsho. 2000 Jul;58(7):1501-4. Review. Japanese.

PMID:
10921331
20.

Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita.

Paller AS, Moore JA, Scher R.

Arch Dermatol. 1991 May;127(5):701-3. Review.

PMID:
1827243
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