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Items: 1 to 20 of 313

1.

Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.

Moog U, de Die-Smulders CE, Scheffer H, van der Vlies P, Henquet CJ, Jonkman MF.

Am J Med Genet. 1999 Oct 8;86(4):376-9.

PMID:
10494094
2.

Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

Csikós M, Szalai Z, Becker K, Sebõk B, Schneider I, Horváth A, Kárpáti S.

Exp Dermatol. 2004 Mar;13(3):185-91.

PMID:
14987259
4.

A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.

Irvine AD, McKenna KE, Jenkinson H, Hughes AE.

J Invest Dermatol. 1997 May;108(5):809-10.

5.

Molecular confirmation of the unique phenotype of epidermolysis bullosa simplex with mottled pigmentation.

Irvine AD, Rugg EL, Lane EB, Hoare S, Peret C, Hughes AE, Heagerty AH.

Br J Dermatol. 2001 Jan;144(1):40-5.

PMID:
11167681
6.

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

Müller FB, Küster W, Wodecki K, Almeida H Jr, Bruckner-Tuderman L, Krieg T, Korge BP, Arin MJ.

Hum Mutat. 2006 Jul;27(7):719-20.

PMID:
16786515
7.

Epidermolysis bullosa simplex with mottled pigmentation - mutation analysis proved the diagnosis in a four-generation pedigree.

Glàsz-Bóna A, Medvecz M, Virágh Z, Hatvani Z, Blazsek A, Kárpáti S.

Eur J Dermatol. 2010 Nov-Dec;20(6):698-700. doi: 10.1684/ejd.2010.1080. Epub 2010 Oct 5.

PMID:
20923750
8.

Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date.

Shurman D, Losi-Sasaki J, Grimwood R, Kivirikko S, Tichy E, Uitto J, Richard G.

Eur J Dermatol. 2006 Mar-Apr;16(2):132-5.

PMID:
16581562
9.

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

Yasukawa K, Sawamura D, Goto M, Nakamura H, Jung SY, Kim SC, Shimizu H.

Br J Dermatol. 2006 Aug;155(2):313-7.

PMID:
16882168
10.

Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy.

Geller L, Kristal L, Morel KD.

Pediatr Dermatol. 2013 Sep-Oct;30(5):631-2. doi: 10.1111/pde.12206. Epub 2013 Jul 26.

PMID:
23889190
11.

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
12.

Epidermolysis bullosa simplex with mottled pigmentation. Case report and review of the literature.

Combemale P, Kanitakis J.

Dermatology. 1994;189(2):173-8. Review.

PMID:
8075449
13.

[Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation].

Liu X, Xia L, Wang JX, Hao YJ, Yang J, Liu FQ, Guo R.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):612-5. doi: 10.3760/cma.j.issn.1003-9406.2011.06.003. Chinese.

PMID:
22161089
14.

Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.

Hamada T, Kawano Y, Szczecinska W, Wozniak K, Yasumoto S, Kowalewski C, Hashimoto T.

Arch Dermatol Res. 2005 Jun;296(12):577-9. Epub 2005 Apr 13.

PMID:
15827748
15.

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.

Jerábková B, Marek J, Bucková H, Kopecková L, Veselý K, Valícková J, Fajkus J, Fajkusová L.

Br J Dermatol. 2010 May;162(5):1004-13. doi: 10.1111/j.1365-2133.2009.09626.x. Epub 2010 Feb 25.

PMID:
20030639
16.

Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.

Nagao-Watanabe M, Fukao T, Matsui E, Kaneko H, Inoue R, Kawamoto N, Kasahara K, Nagai M, Ichiki Y, Kitajima Y, Kondo N.

Clin Genet. 2004 Sep;66(3):236-8.

PMID:
15324323
17.

Epidermolysis bullosa simplex with mottled pigmentation: a family report and review.

Echeverría-García B, Vicente A, Hernández Á, Mascaró JM, Colmenero I, Terrón A, Escámez MJ, del Río M, González-Enseñat MA, Torrelo A.

Pediatr Dermatol. 2013 Nov-Dec;30(6):e125-31. doi: 10.1111/j.1525-1470.2012.01748.x. Epub 2012 May 29. Review.

PMID:
22640275
18.

A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.

Batta K, Rugg EL, Wilson NJ, West N, Goodyear H, Lane EB, Gratian M, Dopping-Hepenstal P, Moss C, Eady RA.

Br J Dermatol. 2000 Sep;143(3):621-7.

PMID:
10971341
19.

Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.

Shemanko CS, Horn HM, Keohane SG, Hepburn N, Kerr AI, Atherton DJ, Tidman MJ, Lane EB.

Br J Dermatol. 2000 Feb;142(2):315-20.

PMID:
10730767
20.

Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.

Morley SM, Dundas SR, James JL, Gupta T, Brown RA, Sexton CJ, Navsaria HA, Leigh IM, Lane EB.

J Cell Sci. 1995 Nov;108 ( Pt 11):3463-71.

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