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Items: 11

1.

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E.

Am J Hum Genet. 2006 Oct;79(4):724-30. Epub 2006 Aug 25.

2.

Naegeli-Franceschetti-Jadassohn syndrome in a Saudi Arabian family.

Tubaigy SM, Hassan HM.

J Forensic Sci. 2014 Mar;59(2):555-8. doi: 10.1111/1556-4029.12316. Epub 2013 Nov 21. Review.

PMID:
24261749
3.

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

Schuilenga-Hut PH, Vlies Pv, Jonkman MF, Waanders E, Buys CH, Scheffer H.

Hum Mutat. 2003 Apr;21(4):447. Review.

PMID:
12655565
4.

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.

Yiasemides E, Trisnowati N, Su J, Dang N, Klingberg S, Marr P, Melbourne W, Tran K, Chow CW, Orchard D, Varigos G, Murrell DF.

Clin Exp Dermatol. 2008 Nov;33(6):689-97. doi: 10.1111/j.1365-2230.2008.02858.x. Epub 2008 Aug 16. Review.

PMID:
18713255
5.

Keratin disorders: from gene to therapy.

McLean WH, Moore CB.

Hum Mol Genet. 2011 Oct 15;20(R2):R189-97. doi: 10.1093/hmg/ddr379. Epub 2011 Sep 2. Review.

PMID:
21890491
6.

[Pachyonychia congenita. Keratin gene mutations with pleiotropic effect].

Swensson O.

Hautarzt. 1999 Jul;50(7):483-90. Review. German.

PMID:
10464680
7.

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.

McLean WH, Smith FJ, Cassidy AJ.

J Investig Dermatol Symp Proc. 2005 Oct;10(1):31-6. Review.

8.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

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

PMID:
9028791
9.

Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis.

Yang JM, Nam K, Kim SW, Jung SY, Min HG, Yeo UC, Park KB, Lee JH, Suhr KB, Park JK, Lee ES.

J Dermatol Sci. 1999 Feb;19(2):126-33. Review.

PMID:
10098704
10.

The genetic basis of pachyonychia congenita.

Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, Joval I, van Steensel MA, Björck E, Callif-Daley F, Pals G, Collins P, Leachman SA, Munro CS, McLean WH.

J Investig Dermatol Symp Proc. 2005 Oct;10(1):21-30. Review.

11.

Gene therapy for autosomal dominant disorders of keratin.

Lewin AS, Glazer PM, Milstone LM.

J Investig Dermatol Symp Proc. 2005 Oct;10(1):47-61. Review.

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