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Items: 1 to 20 of 210

1.

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
2.

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
3.

A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1).

Zeng YP, Chai WX, Fang K, Sun QN, Zuo YG.

Int J Dermatol. 2012 Feb;51(2):182-5. doi: 10.1111/j.1365-4632.2011.05202.x.

PMID:
22250628
4.

Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.

Cserhalmi-Friedman PB, Squeo R, Gordon D, Garzon M, Schneiderman P, Grossman ME, Christiano AM.

Clin Exp Dermatol. 2000 May;25(3):241-3.

PMID:
10844506
5.

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.

Covaciu C, Castori M, De Luca N, Ghirri P, Nannipieri A, Ragone G, Zambruno G, Castiglia D.

Br J Dermatol. 2010 Jun;162(6):1384-7. doi: 10.1111/j.1365-2133.2010.09665.x. Epub 2010 Mar 10.

PMID:
20302579
6.

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.

Arin MJ, Oji V, Emmert S, Hausser I, Traupe H, Krieg T, Grimberg G.

Br J Dermatol. 2011 Feb;164(2):442-7. doi: 10.1111/j.1365-2133.2010.10096.x.

PMID:
21271994
7.

A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.

Bergman R, Khamaysi Z, Sprecher E.

Am J Dermatopathol. 2008 Apr;30(2):101-5. doi: 10.1097/DAD.0b013e3181614898.

PMID:
18360110
8.

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
9.
10.

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.

Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA.

Br J Dermatol. 2001 Aug;145(2):330-5. Review.

PMID:
11531804
11.

Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement.

Math A, Frank J, Handisurya A, Poblete-Gutiérrez P, Slupetzky K, Födinger D, Winter D, Stingl G, Kirnbauer R.

Eur J Dermatol. 2006 Sep-Oct;16(5):507-10.

PMID:
17101470
12.

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.

Nellen RG, Nagtzaam IF, Hoogeboom AJ, Bladergroen RS, Jonkman MF, Steijlen PM, van Steensel MA, van Geel M.

Exp Dermatol. 2015 Nov;24(11):883-5. doi: 10.1111/exd.12786. Epub 2015 Aug 21. No abstract available.

PMID:
26120802
13.

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.

Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH.

Am J Hum Genet. 1999 Mar;64(3):732-8.

14.

Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.

Michael EJ, Schneiderman P, Grossman ME, Christiano AM.

Exp Dermatol. 1999 Dec;8(6):501-3.

PMID:
10597140
15.

Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.

Liu XP, Ling J, Xiong H, Shi XL, Sun X, Pan Q, Hu ZM, Wu LQ, Liang DS, Long ZG, Dai HP, Xia JH, Xia K.

J Eur Acad Dermatol Venereol. 2009 Sep;23(9):1079-82. doi: 10.1111/j.1468-3083.2009.03175.x. Epub 2009 Mar 17.

PMID:
19470048
16.

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Hotz A, Oji V, Bourrat E, Jonca N, Mazereeuw-Hautier J, Betz RC, Blume-Peytavi U, Stieler K, Morice-Picard F, Schönbuchner I, Markus S, Schlipf N, Fischer J.

Acta Derm Venereol. 2016 May;96(4):473-8. doi: 10.2340/00015555-2299.

17.

Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression.

Virtanen M, Gedde-Dahl T Jr, Mörk NJ, Leigh I, Bowden PE, Vahlquist A.

Acta Derm Venereol. 2001 Jun-Jul;81(3):163-70.

PMID:
11558869
18.

Bullous congenital ichthyosiform erythroderma of Brocq.

Kucharekova M, Mosterd K, Winnepenninckx V, van Geel M, Sommer A, van Steensel MA.

Int J Dermatol. 2007 Nov;46 Suppl 3:36-8.

PMID:
17973888
19.
20.

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

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