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Items: 14

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.

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

Swensson O.

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

PMID:
10464680
3.

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.

4.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

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

PMID:
9028791
5.

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.

6.

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.

7.

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.

PMID:
21890491
8.

The molecular genetics of keratin disorders.

Smith F.

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

PMID:
12688839
9.

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.

10.

Mouse models in preclinical studies for pachyonychia congenita.

Chen J, Roop DR.

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

11.

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.

12.

Ectodermal dysplasias: clinical and molecular review.

Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA.

Am J Med Genet A. 2009 Sep;149A(9):1980-2002. doi: 10.1002/ajmg.a.32864. Review.

PMID:
19681154
13.

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.

14.

Marathon of eponyms: 10 Jadassohn-Lewandowsky syndrome (Pachyonychia congenita).

Scully C, Langdon J, Evans J.

Oral Dis. 2010 Apr;16(3):310-1. doi: 10.1111/j.1601-0825.2009.01542.x. Review.

PMID:
20374515

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