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Items: 1 to 20 of 267

2.

A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma.

Saeki H, Hattori N, Mitsui H, Adachi M, Imakado S, Ishibashi Y, Tamaki K.

J Dermatol. 2002 Mar;29(3):168-71.

PMID:
11990254
3.

A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.

Uezato H, Yamamoto Y, Kuwae C, Nonaka K, Oshiro M, Kariya K, Nonaka S.

J Dermatol. 2005 Oct;32(10):801-8.

PMID:
16361731
4.

Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.

Mayuzumi N, Shigihara T, Ikeda S, Ogawa H.

J Eur Acad Dermatol Venereol. 2000 Jul;14(4):304-6.

PMID:
11204523
5.

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.

6.

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
7.
8.

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
9.

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
10.

A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.

Nomura K, Meng X, Umeki K, Tamai K, Sawamura D, Hashimoto I, Kikuchi T.

Jpn J Hum Genet. 1997 Mar;42(1):217-23.

PMID:
9184002
11.

[Bullous congenital ichthyosiform erythroderma of Brocq; 2 patients with different phenotype and genotype].

Lavrijsen AP, Bergman W, Steijlen PM.

Ned Tijdschr Geneeskd. 2001 Aug 4;145(31):1527-8. Dutch. No abstract available.

PMID:
11569466
12.

[Mutation analysis of KRT10 gene in a patient with bullous congenital ichthyosiform erythroderma].

Zhang SD, Liu JJ, Tian W, Zhao ZJ, Zhao JJ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):421-3. doi: 10.3760/cma.j.issn.1003-9406.2011.04.014. Chinese.

PMID:
21811984
13.

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
14.

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
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.

Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma.

McLean WH, Morley SM, Higgins C, Bowden PE, White M, Leigh IM, Lane EB.

Exp Dermatol. 1999 Apr;8(2):120-3.

PMID:
10232402
17.

Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation.

Betlloch I, Lucas Costa A, Mataix J, PĂ©rez-Crespo M, Ballester I.

Pediatr Dermatol. 2009 Jul-Aug;26(4):489-91. doi: 10.1111/j.1525-1470.2009.00969.x.

PMID:
19689541
18.

R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.

Haruna K, Suga Y, Mizuno Y, Hasegawa T, Kourou K, Matsuba S, Muramatsu S, Ikeda S.

J Dermatol. 2007 Aug;34(8):545-8.

PMID:
17683385
19.

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

McLean WH, Eady RA, Dopping-Hepenstal PJ, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM, et al.

J Invest Dermatol. 1994 Jan;102(1):24-30.

20.

Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation.

Tsubota A, Akiyama M, Kanitakis J, Sakai K, Nomura T, Claudy A, Shimizu H.

J Invest Dermatol. 2008 Jul;128(7):1648-52. doi: 10.1038/sj.jid.5701257. Epub 2008 Jan 24.

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