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Results: 1 to 20 of 305

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
16250206
[PubMed - indexed for MEDLINE]
Free Article
6.

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.

PMID:
11886499
[PubMed - indexed for MEDLINE]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
11348474
[PubMed - indexed for MEDLINE]
Free Article
10.

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.

PMID:
10571744
[PubMed - indexed for MEDLINE]
Free Article
11.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

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

PMID:
9028791
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
16250207
[PubMed - indexed for MEDLINE]
Free Article
14.

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
[PubMed - indexed for MEDLINE]
15.

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.

Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Atherton DJ, Irvine AD, McLean WH.

Br J Dermatol. 2004 Jun;150(6):1096-103.

PMID:
15214894
[PubMed - indexed for MEDLINE]
16.

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

Swensson O.

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

PMID:
10464680
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif.

Coleman CM, Munro CS, Smith FJ, Uitto J, McLean WH.

Br J Dermatol. 1999 Mar;140(3):486-90.

PMID:
10233272
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
9618173
[PubMed - indexed for MEDLINE]
Free Article

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