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Items: 1 to 20 of 126

1.

Inherited disorders of corneocyte proteins.

Elias PM, Williams ML, Crumrine D, Schmuth M.

Curr Probl Dermatol. 2010;39:98-131. doi: 10.1159/000321086. Epub 2010 Sep 14. Review. No abstract available.

PMID:
20838039
2.

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.

Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR.

Nat Genet. 1994 Aug;7(4):485-90.

PMID:
7524919
3.

A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens.

Yang JM, Lee ES, Kang HJ, Choi GS, Yoneda K, Jung SY, Park KB, Steinert PM, Lee ES.

Acta Derm Venereol. 1998 Nov;78(6):417-9.

PMID:
9833038
4.

Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.

Sung JY, Oh SW, Kim SE, Kim SC.

J Dermatol Sci. 2013 Jun;70(3):220-2. doi: 10.1016/j.jdermsci.2013.03.001. Epub 2013 Mar 14. No abstract available.

PMID:
23623204
5.

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.

6.
7.

Superficial epidermolytic ichthyosis: a report of two families.

Cervantes T, Pham C, Browning JC.

Pediatr Dermatol. 2013 Jul-Aug;30(4):469-72. doi: 10.1111/j.1525-1470.2012.01750.x. Epub 2012 May 21.

PMID:
22612346
8.

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.

Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, Eady RA.

Br J Dermatol. 1999 Apr;140(4):689-95. Review.

PMID:
10233323
9.

[Case no. 7. Bullous dermatosis].

Fraitag S.

Ann Pathol. 2013 Jun;33(3):207-10. doi: 10.1016/j.annpat.2013.04.007. Epub 2013 May 30. Review. French. No abstract available.

PMID:
23790663
10.

Systematized linear epidermolytic hyperkeratosis.

Kumar P, Kumar R, Mandal RK, Hassan S.

Dermatol Online J. 2014 Jan 15;20(1):21248. Review.

11.
12.

Keratins and skin disorders.

Lane EB, McLean WH.

J Pathol. 2004 Nov;204(4):355-66. Review.

PMID:
15495218
13.

[Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].

Oji V.

Hautarzt. 2010 Oct;61(10):891-902; quiz 903-4. doi: 10.1007/s00105-010-2018-4. Review. German.

PMID:
20827455
14.

Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa.

Steijlen PM, Kremer H, Vakilzadeh F, Happle R, Lavrijsen AP, Ropers HH, Mariman EC.

J Invest Dermatol. 1994 Sep;103(3):282-5.

15.

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
16.

Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.

Akiyama M, Tsuji-Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, Abe M, Sawamura D, Shimizu H.

Br J Dermatol. 2005 Jun;152(6):1353-6. Review.

PMID:
15949009
17.

Enlightened therapy of the disorders of cornification.

Williams ML, Elias PM.

Clin Dermatol. 2003 Jul-Aug;21(4):269-73. Review. No abstract available.

PMID:
14572696
18.

How do keratinizing disorders and blistering disorders overlap?

Hamada T, Tsuruta D, Fukuda S, Ishii N, Teye K, Numata S, Dainichi T, Karashima T, Ohata C, Furumura M, Hashimoto T.

Exp Dermatol. 2013 Feb;22(2):83-7. doi: 10.1111/exd.12021. Epub 2012 Oct 8. Review.

19.

The molecular genetics of keratin disorders.

Smith F.

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

PMID:
12688839
20.

Phenotypes, genotypes and their contribution to understanding keratin function.

Porter RM, Lane EB.

Trends Genet. 2003 May;19(5):278-85. Review.

PMID:
12711220
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