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Results: 1 to 20 of 107

1.

Underrecognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.

Szczecinska W, Nesteruk D, Wertheim-Tysarowska K, Greenblatt DT, Baty D, Browne F, Liu L, Ozoemena L, Terron-Kwiatkowski A, McGrath JA, Mellerio JE, Morton J, Woźniak K, Kowalewski C, Has C, Moss C.

Br J Dermatol. 2014 Mar 13. doi: 10.1111/bjd.12964. [Epub ahead of print]

PMID:
24628291
[PubMed - as supplied by publisher]
2.

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M.

Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x.

PMID:
21623745
[PubMed - indexed for MEDLINE]
3.

Epidermolysis Bullosa Simplex.

Pfendner EG, Bruckner AL.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
1998 Oct 07 [updated 2011 Sep 01].

PMID:
20301543
[PubMed]
Books & Documents
4.

Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy.

Kavaklieva S, Yordanova I, Bruckner-Tuderman L, Has C.

Case Rep Dermatol. 2013 Aug 7;5(2):210-4. doi: 10.1159/000354572. eCollection 2013.

PMID:
24019772
[PubMed]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.

Kang TW, Lee JS, Kim SE, Oh SW, Kim SC.

J Dermatol Sci. 2010 Feb;57(2):90-4. doi: 10.1016/j.jdermsci.2009.12.002. Epub 2010 Jan 8.

PMID:
20060687
[PubMed - indexed for MEDLINE]
9.

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.

Pigors M, Kiritsi D, Cobzaru C, Schwieger-Briel A, Suárez J, Faletra F, Aho H, Mäkelä L, Kern JS, Bruckner-Tuderman L, Has C.

J Invest Dermatol. 2012 Oct;132(10):2422-9. doi: 10.1038/jid.2012.166. Epub 2012 May 24.

PMID:
22622422
[PubMed - indexed for MEDLINE]
Free Article
10.

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

Takeichi T, Nanda A, Liu L, Aristodemou S, McMillan JR, Sugiura K, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA.

Br J Dermatol. 2014 Jul 24. doi: 10.1111/bjd.13294. [Epub ahead of print]

PMID:
25059916
[PubMed - as supplied by publisher]
11.

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
[PubMed - indexed for MEDLINE]
12.

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH.

Am J Hum Genet. 2005 Dec;77(6):909-17. Epub 2005 Oct 11.

PMID:
16380904
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Novel KRT14 mutation causing epidermolysis bullosa simplex with variable phenotype.

Jankowski M, Wertheim-Tysarowska K, Jakubowski R, Sota J, Nowak W, Czajkowski R.

Exp Dermatol. 2014 Sep;23(9):684-7. doi: 10.1111/exd.12478.

PMID:
24981776
[PubMed - in process]
14.

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E.

Arch Dermatol. 2003 Apr;139(4):498-505. Erratum in: Arch Dermatol. 2003 Aug;139(8):1084.

PMID:
12707098
[PubMed - indexed for MEDLINE]
15.

Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.

Pavlovic S, Krunic AL, Bulj TK, Medenica MM, Fong K, Arita K, McGrath JA.

Pediatr Dermatol. 2012 May-Jun;29(3):258-63. doi: 10.1111/j.1525-1470.2011.01563.x. Epub 2011 Nov 8.

PMID:
22066523
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.

Shimizu H, Takizawa Y, Pulkkinen L, Murata S, Kawai M, Hachisuka H, Udono M, Uitto J, Nishikawa T.

J Am Acad Dermatol. 1999 Dec;41(6):950-6. Review.

PMID:
10570379
[PubMed - indexed for MEDLINE]
19.

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

Rugg EL, Horn HM, Smith FJ, Wilson NJ, Hill AJ, Magee GJ, Shemanko CS, Baty DU, Tidman MJ, Lane EB.

J Invest Dermatol. 2007 Mar;127(3):574-80. Epub 2006 Oct 12.

PMID:
17039244
[PubMed - indexed for MEDLINE]
Free Article
20.

Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.

Chamcheu JC, Virtanen M, Navsaria H, Bowden PE, Vahlquist A, Törmä H.

Br J Dermatol. 2010 May;162(5):980-9. doi: 10.1111/j.1365-2133.2009.09615.x. Epub 2010 Feb 1.

PMID:
20128788
[PubMed - indexed for MEDLINE]

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