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Items: 1 to 20 of 167

1.

Genetic and clinical mosaicism in a type of epidermal nevus.

Paller AS, Syder AJ, Chan YM, Yu QC, Hutton E, Tadini G, Fuchs E.

N Engl J Med. 1994 Nov 24;331(21):1408-15.

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.

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.

Müller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ.

Hum Mol Genet. 2006 Apr 1;15(7):1133-41. Epub 2006 Feb 27.

PMID:
16505000
4.

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Hartmann A.

J Clin Invest. 2006 Aug;116(8):2201-2207.

5.

Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.

Arin MJ, Longley MA, Epstein EH Jr, Rothnagel JA, Roop DR.

Exp Dermatol. 2000 Feb;9(1):16-9.

PMID:
10688370
6.
7.
8.

Epidermolytic acanthomas: clinical characteristics and immunohistochemical features.

Cohen PR, Ulmer R, Theriault A, Leigh IM, Duvic M.

Am J Dermatopathol. 1997 Jun;19(3):232-41.

PMID:
9185908
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.

Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis.

Rothnagel JA, Lin MT, Longley MA, Holder RA, Hazen PG, Levy ML, Roop DR.

Prenat Diagn. 1998 Aug;18(8):826-30.

PMID:
9742571
12.

A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis.

Bickenbach JR, Longley MA, Bundman DS, Dominey AM, Bowden PE, Rothnagel JA, Roop DR.

Differentiation. 1996 Dec;61(2):129-39.

PMID:
8983179
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.

Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.

Tsubota A, Akiyama M, Sakai K, Goto M, Nomura Y, Ando S, Abe M, Sawamura D, Shimizu H.

J Invest Dermatol. 2007 Jun;127(6):1371-4. Epub 2007 Feb 1.

15.
16.

Keratinocytic epidermal nevi are associated with mosaic RAS mutations.

Hafner C, Toll A, Gantner S, Mauerer A, Lurkin I, Acquadro F, Fernández-Casado A, Zwarthoff EC, Dietmaier W, Baselga E, Parera E, Vicente A, Casanova A, Cigudosa J, Mentzel T, Pujol RM, Landthaler M, Real FX.

J Med Genet. 2012 Apr;49(4):249-53. doi: 10.1136/jmedgenet-2011-100637.

PMID:
22499344
17.

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.

Rothnagel JA, Fisher MP, Axtell SM, Pittelkow MR, Anton-Lamprecht I, Huber M, Hohl D, Roop DR.

Hum Mol Genet. 1993 Dec;2(12):2147-50.

PMID:
7509230
18.

Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.

Sun XK, Ma LL, Xie YQ, Zhu XJ.

J Dermatol Sci. 2002 Sep;29(3):195-200.

PMID:
12234709
19.

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

Cheng J, Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E.

Cell. 1992 Sep 4;70(5):811-9.

PMID:
1381287
20.

Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.

Chan YM, Yu QC, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati RS, Uitto J, Fuchs E.

J Cell Sci. 1994 Apr;107 ( Pt 4):765-74.

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