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Items: 1 to 20 of 64

1.

Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.

Turcan I, Pasmooij AM, Van den Akker PC, Lemmink H, Sinke RJ, Jonkman MF.

JAMA Dermatol. 2016 Oct 1;152(10):1137-1141. doi: 10.1001/jamadermatol.2016.2268.

PMID:
27384765
2.

Oral erythromycin therapy in epidermolysis bullosa simplex generalized severe.

Chiaverini C, Fontas E, Vabres P, Bessis D, Mazereeuw J, Charlesworth A, Meneguzzi G, Lacour JP.

Br J Dermatol. 2015 Aug;173(2):563-4. doi: 10.1111/bjd.13672. Epub 2015 Jun 10. No abstract available.

PMID:
25601422
3.

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.

Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, Marinkovich MP, Martinez AE, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G.

J Am Acad Dermatol. 2014 Jun;70(6):1103-26. doi: 10.1016/j.jaad.2014.01.903. Epub 2014 Mar 29. Review.

PMID:
24690439
4.

Under-recognition 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 Nov;171(5):1206-10. doi: 10.1111/bjd.12964. Epub 2014 Oct 20.

PMID:
24628291
5.

Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.

Bolling MC, Jongbloed JD, Boven LG, Diercks GF, Smith FJ, McLean WH, Jonkman MF.

J Invest Dermatol. 2014 Jan;134(1):273-6. doi: 10.1038/jid.2013.277. Epub 2013 Jun 17. No abstract available.

6.

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M.

Am J Hum Genet. 2012 Dec 7;91(6):1115-21. doi: 10.1016/j.ajhg.2012.10.012. Epub 2012 Nov 21.

7.

Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.

Liu L, Dopping-Hepenstal PJ, Lovell PA, Michael M, Horn H, Fong K, Lai-Cheong JE, Mellerio JE, Parsons M, McGrath JA.

J Invest Dermatol. 2012 Mar;132(3 Pt 1):742-4. doi: 10.1038/jid.2011.379. Epub 2011 Nov 24. No abstract available.

8.

Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex.

Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJ, Moore CB, McLean WH.

J Invest Dermatol. 2011 Oct;131(10):2079-86. doi: 10.1038/jid.2011.169. Epub 2011 Jun 30.

9.

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

Bolling MC, Lemmink HH, Jansen GH, Jonkman MF.

Br J Dermatol. 2011 Mar;164(3):637-44. doi: 10.1111/j.1365-2133.2010.10146.x. Epub 2011 Feb 17.

PMID:
21375516
10.

Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita.

Swartling C, Karlqvist M, Hymnelius K, Weis J, Vahlquist A.

Br J Dermatol. 2010 Nov;163(5):1072-6. doi: 10.1111/j.1365-2133.2010.09927.x.

PMID:
20618323
11.

Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.

Hobbs RP, Han SY, van der Zwaag PA, Bolling MC, Jongbloed JD, Jonkman MF, Getsios S, Paller AS, Green KJ.

J Invest Dermatol. 2010 Nov;130(11):2680-3. doi: 10.1038/jid.2010.189. Epub 2010 Jul 8. No abstract available.

12.

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.

Bolling MC, Veenstra MJ, Jonkman MF, Diercks GF, Curry CJ, Fisher J, Pas HH, Bruckner AL.

Br J Dermatol. 2010 Jun;162(6):1388-94. doi: 10.1111/j.1365-2133.2010.09668.x. Epub 2010 Mar 10.

PMID:
20302578
13.

Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.

Hanneken S, Rütten A, Pasternack SM, Eigelshoven S, El Shabrawi-Caelen L, Wenzel J, Braun-Falco M, Ruzicka T, Nöthen MM, Kruse R, Betz RC.

Br J Dermatol. 2010 Jul;163(1):197-200. doi: 10.1111/j.1365-2133.2010.09741.x. Epub 2010 Mar 5.

PMID:
20222933
14.

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

Arin MJ, Grimberg G, Schumann H, De Almeida H Jr, Chang YR, Tadini G, Kohlhase J, Krieg T, Bruckner-Tuderman L, Has C.

Br J Dermatol. 2010 Jun;162(6):1365-9. doi: 10.1111/j.1365-2133.2010.09657.x. Epub 2010 Feb 25.

PMID:
20199538
15.

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA.

J Invest Dermatol. 2010 Jun;130(6):1551-7. doi: 10.1038/jid.2010.19. Epub 2010 Feb 18.

16.

Rab27a and Rab27b control different steps of the exosome secretion pathway.

Ostrowski M, Carmo NB, Krumeich S, Fanget I, Raposo G, Savina A, Moita CF, Schauer K, Hume AN, Freitas RP, Goud B, Benaroch P, Hacohen N, Fukuda M, Desnos C, Seabra MC, Darchen F, Amigorena S, Moita LF, Thery C.

Nat Cell Biol. 2010 Jan;12(1):19-30; sup pp 1-13. doi: 10.1038/ncb2000. Epub 2009 Dec 6.

PMID:
19966785
17.

Ectodermal dysplasia-skin fragility syndrome.

McGrath JA, Mellerio JE.

Dermatol Clin. 2010 Jan;28(1):125-9. doi: 10.1016/j.det.2009.10.014. Review.

PMID:
19945625
18.

Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A.

Abitbol RJ, Zhou LH.

Arch Dermatol. 2009 Jan;145(1):13-5. doi: 10.1001/archdermatol.2008.546. No abstract available.

PMID:
19153338
19.

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G.

J Am Acad Dermatol. 2008 Jun;58(6):931-50. doi: 10.1016/j.jaad.2008.02.004. Epub 2008 Apr 18.

PMID:
18374450
20.

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.

Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E.

J Invest Dermatol. 2008 Jun;128(6):1517-24. Epub 2007 Nov 29.

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