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Results: 1 to 20 of 96

1.

A novel mutation in CDSN causes peeling skin disease in a patient from Morocco.

Mazereeuw-Hautier J, Leclerc EA, Simon M, Serre G, Jonca N.

Br J Dermatol. 2011 Nov;165(5):1152-5. doi: 10.1111/j.1365-2133.2011.10529.x. No abstract available.

PMID:
21777220
[PubMed - indexed for MEDLINE]
2.

[Peeling skin disease: the responsibility of corneodesmosin].

Dereure O.

Ann Dermatol Venereol. 2010 Dec;137(12):841. doi: 10.1016/j.annder.2010.09.012. Epub 2010 Oct 20. French. No abstract available.

PMID:
21134591
[PubMed - indexed for MEDLINE]
3.

Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis.

Bowden PE.

J Invest Dermatol. 2011 Mar;131(3):561-4. doi: 10.1038/jid.2010.434.

PMID:
21307953
[PubMed - indexed for MEDLINE]
Free Article
4.

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.

Israeli S, Zamir H, Sarig O, Bergman R, Sprecher E.

J Invest Dermatol. 2011 Mar;131(3):779-81. doi: 10.1038/jid.2010.363. Epub 2010 Dec 30. No abstract available.

PMID:
21191406
[PubMed - indexed for MEDLINE]
Free Article
5.

Inflammatory peeling skin syndrome caused a novel mutation in CDSN.

Telem DF, Israeli S, Sarig O, Sprecher E.

Arch Dermatol Res. 2012 Apr;304(3):251-5. doi: 10.1007/s00403-011-1195-z. Epub 2011 Dec 7.

PMID:
22146835
[PubMed - indexed for MEDLINE]
6.

A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.

van der Velden JJ, Jonkman MF, McLean WH, Hamm H, Steijlen PM, van Steensel MA, van Geel M.

J Dermatol Sci. 2012 Jan;65(1):74-6. doi: 10.1016/j.jdermsci.2011.10.002. Epub 2011 Oct 13. No abstract available.

PMID:
22036214
[PubMed - indexed for MEDLINE]
7.

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

Krunic AL, Stone KL, Simpson MA, McGrath JA.

Pediatr Dermatol. 2013 Sep-Oct;30(5):e87-8. doi: 10.1111/pde.12092. Epub 2013 Mar 28.

PMID:
23534700
[PubMed - indexed for MEDLINE]
8.

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
9.

Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.

Mallet A, Kypriotou M, George K, Leclerc E, Rivero D, Mazereeuw-Hautier J, Serre G, Huber M, Jonca N, Hohl D.

Br J Dermatol. 2013 Dec;169(6):1322-5. doi: 10.1111/bjd.12593.

PMID:
23957618
[PubMed - indexed for MEDLINE]
10.

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.

Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM.

Genomics. 2012 Apr;99(4):202-8. doi: 10.1016/j.ygeno.2012.01.005. Epub 2012 Jan 25.

PMID:
22289416
[PubMed - indexed for MEDLINE]
Free Article
11.

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]
12.

Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene.

Ishida-Yamamoto A, Furio L, Igawa S, Honma M, Tron E, Malan V, Murakami M, Hovnanian A.

Exp Dermatol. 2014 Jan;23(1):60-3. doi: 10.1111/exd.12292.

PMID:
24372652
[PubMed - indexed for MEDLINE]
13.

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.

Oji V, Eckl KM, Aufenvenne K, Nätebus M, Tarinski T, Ackermann K, Seller N, Metze D, Nürnberg G, Fölster-Holst R, Schäfer-Korting M, Hausser I, Traupe H, Hennies HC.

Am J Hum Genet. 2010 Aug 13;87(2):274-81. doi: 10.1016/j.ajhg.2010.07.005.

PMID:
20691404
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.

Ishida-Yamamoto A, McGrath JA, Lam H, Iizuka H, Friedman RA, Christiano AM.

Am J Hum Genet. 1997 Sep;61(3):581-9.

PMID:
9326323
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria.

Kono M, Akiyama M, Kondo T, Suzuki T, Suganuma M, Wataya-Kaneda M, Lam J, Shibaki A, Tomita Y.

J Dermatol. 2012 Sep;39(9):819-21. doi: 10.1111/j.1346-8138.2011.01385.x. Epub 2011 Oct 2. No abstract available.

PMID:
23336285
[PubMed - indexed for MEDLINE]
16.

Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses.

Jonca N, Leclerc EA, Caubet C, Simon M, Guerrin M, Serre G.

Eur J Dermatol. 2011 May;21 Suppl 2:35-42. doi: 10.1684/ejd.2011.1264. Review.

PMID:
21628128
[PubMed - indexed for MEDLINE]
17.

[Plantar acral peeling skin syndrome].

Oumakhir S, Hjira N, Albouzidi A, Ghfir M, Sedrati O.

Ann Dermatol Venereol. 2009 Apr;136(4):391-2. doi: 10.1016/j.annder.2008.05.028. Epub 2009 Feb 6. French. No abstract available.

PMID:
19361715
[PubMed - indexed for MEDLINE]
18.

Novel deletion mutation of DSRAD in a Chinese family with Dyschromatosis Symmetrica Hereditaria (DSH).

Xing Q, Shu A, Yu L, Zhang A, DU J, Xuan J, Wang L, He G, Meng J, Li X, Feng G, He L.

Eur J Dermatol. 2007 May-Jun;17(3):247-8. Epub 2007 May 4. No abstract available.

PMID:
17478391
[PubMed - indexed for MEDLINE]
19.

Novel frameshift mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.

Ren JW, Luo SJ, Peng ZH, Liu Y, Pan M, Xiao SX.

J Eur Acad Dermatol Venereol. 2008 Nov;22(11):1375-6. doi: 10.1111/j.1468-3083.2008.02632.x. Epub 2008 Mar 7. No abstract available.

PMID:
18331298
[PubMed - indexed for MEDLINE]
20.

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures.

Yıldırım Y, Orhan EK, Iseri SA, Serdaroglu-Oflazer P, Kara B, Solakoğlu S, Tolun A.

Hum Mol Genet. 2011 May 15;20(10):1886-92. doi: 10.1093/hmg/ddr070. Epub 2011 Feb 17.

PMID:
21330303
[PubMed - indexed for MEDLINE]
Free Article

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