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Items: 1 to 20 of 155

1.

Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.

Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD.

J Invest Dermatol. 2002 Oct;119(4):966-71.

2.

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.

Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C, Kelsell DP.

J Invest Dermatol. 2001 Apr;116(4):606-9.

3.

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
4.
5.

Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.

Navsaria HA, Swensson O, Ratnavel RC, Shamsher M, McLean WH, Lane EB, Griffiths D, Eady RA, Leigh IM.

J Invest Dermatol. 1995 Mar;104(3):425-9.

6.

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
7.

Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.

Rothnagel JA, Wojcik S, Liefer KM, Dominey AM, Huber M, Hohl D, Roop DR.

J Invest Dermatol. 1995 Mar;104(3):430-3.

8.
9.

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
10.

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

Reis A, Hennies HC, Langbein L, Digweed M, Mischke D, Drechsler M, Schröck E, Royer-Pokora B, Franke WW, Sperling K, et al.

Nat Genet. 1994 Feb;6(2):174-9.

PMID:
7512862
11.

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.

Hennies HC, Zehender D, Kunze J, Küster W, Reis A.

Hum Genet. 1994 Jun;93(6):649-54.

PMID:
7516304
12.

Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.

Terron-Kwiatkowski A, van Steensel MA, van Geel M, Lane EB, McLean WH, Steijlen PM.

J Invest Dermatol. 2006 Mar;126(3):607-13.

13.

Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.

Tal O, Bergman R, Alcalay J, Indelman M, Sprecher E.

Clin Exp Dermatol. 2005 Jan;30(1):64-7.

PMID:
15663507
14.

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.

Kimonis V, DiGiovanna JJ, Yang JM, Doyle SZ, Bale SJ, Compton JG.

J Invest Dermatol. 1994 Dec;103(6):764-9.

15.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

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

PMID:
9028791
16.

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.

Bolling MC, Bladergroen RS, van Steensel MA, Willemsen M, Jonkman MF, van Geel M.

Br J Dermatol. 2010 Apr;162(4):875-9. doi: 10.1111/j.1365-2133.2009.09617.x.

PMID:
20500210
17.

Next-generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma.

Banerjee S, Ren Y, Wei T, Zhou Z, Yu P, Guan F, Wei X, Ye S, Yan S, Zheng M, Raff ML, Qi M.

Exp Dermatol. 2015 Feb;24(2):152-5. doi: 10.1111/exd.12610.

PMID:
25429721
18.

Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

Covello SP, Irvine AD, McKenna KE, Munro CS, Nevin NC, Smith FJ, Uitto J, McLean WH.

J Invest Dermatol. 1998 Dec;111(6):1207-9.

19.

Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis.

Bonifas JM, Matsumura K, Chen MA, Berth-Jones J, Hutchison PE, Zloczower M, Fritsch PO, Epstein EH Jr.

J Invest Dermatol. 1994 Oct;103(4):474-7.

20.

Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.

Lee JH, Ahn KS, Lee CH, Youn SJ, Kim JW, Lee DY, Lee ES, Steinert PM, Yang JM.

Exp Dermatol. 2003 Dec;12(6):876-81.

PMID:
14675368

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