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Results: 1 to 20 of 47

1.

Development of a disease severity score for newborns with collodion membrane.

Rubio-Gomez GA, Weinstein M, Pope E.

J Am Acad Dermatol. 2014 Mar;70(3):506-11. doi: 10.1016/j.jaad.2013.11.002. Epub 2013 Dec 24.

PMID:
24373778
[PubMed - indexed for MEDLINE]
2.

Distinguishing ichthyoses by protein profiling.

Rice RH, Bradshaw KM, Durbin-Johnson BP, Rocke DM, Eigenheer RA, Phinney BS, Schmuth M, Gruber R.

PLoS One. 2013 Oct 9;8(10):e75355. doi: 10.1371/journal.pone.0075355. eCollection 2013.

PMID:
24130705
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.

Follmann J, Macchiella D, Whybra C, Mildenberger E, Poarangan C, Zechner U, Bartsch O.

Gene. 2013 Dec 1;531(2):510-3. doi: 10.1016/j.gene.2013.07.046. Epub 2013 Sep 20.

PMID:
24055722
[PubMed - indexed for MEDLINE]
4.

The roles of ABCA12 in epidermal lipid barrier formation and keratinocyte differentiation.

Akiyama M.

Biochim Biophys Acta. 2014 Mar;1841(3):435-40. doi: 10.1016/j.bbalip.2013.08.009. Epub 2013 Aug 15. Review.

PMID:
23954554
[PubMed - indexed for MEDLINE]
5.

Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.

Sugiura K, Suga Y, Akiyama M.

J Dermatol Sci. 2013 Nov;72(2):197-9. doi: 10.1016/j.jdermsci.2013.06.013. Epub 2013 Jul 10. No abstract available.

PMID:
23895935
[PubMed - indexed for MEDLINE]
6.

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.

Sugiura K, Takeichi T, Tanahashi K, Ito Y, Kosho T, Saida K, Uhara H, Okuyama R, Akiyama M.

J Dermatol Sci. 2013 Nov;72(2):193-5. doi: 10.1016/j.jdermsci.2013.06.008. Epub 2013 Jun 28. No abstract available.

PMID:
23871423
[PubMed - indexed for MEDLINE]
7.

Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.

Al-Naamani A, Al-Waily A, Al-Kindi M, Al-Awadi M, Al-Yahyaee SA.

Med Princ Pract. 2013;22(5):438-43. doi: 10.1159/000349914. Epub 2013 May 15.

PMID:
23689228
[PubMed - indexed for MEDLINE]
8.

Osseointegrated hearing device placement in congenital lamellar ichthyosis.

Nolder AR, Gluth MB.

Otol Neurotol. 2013 Jun;34(4):723-5. doi: 10.1097/MAO.0b013e3182908c44.

PMID:
23640094
[PubMed - indexed for MEDLINE]
9.

Lamellar ichthyosis presenting as bilateral spontaneous corneal perforation.

Chaudhary M, Shrestha GB, Keyal A.

Nepal J Ophthalmol. 2013 Jan-Jun;5(9):117-9. doi: http://dx.doi.org/10.3126/nepjoph.v5i1.7838.

PMID:
23584658
[PubMed - indexed for MEDLINE]
10.

Autosomal recessive congenital ichthyosis.

Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J.

Actas Dermosifiliogr. 2013 May;104(4):270-84. doi: 10.1016/j.adengl.2011.11.021. Epub 2013 Apr 3. Review. English, Spanish.

PMID:
23562412
[PubMed - indexed for MEDLINE]
11.

A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.

Tao J, Koster MI, Harrison W, Moran JL, Beier DR, Roop DR, Overbeek PA.

PLoS One. 2012;7(11):e50634. doi: 10.1371/journal.pone.0050634. Epub 2012 Nov 30.

PMID:
23226340
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.

Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H, Fakhfakh F.

Mol Biol Rep. 2013 Mar;40(3):2527-32. doi: 10.1007/s11033-012-2333-1. Epub 2012 Nov 29.

PMID:
23192619
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Lamellar ichthyosis with genu valgum: unfolding the link.

Deka N, Sarma D, Saikia UK.

BMJ Case Rep. 2012 Nov 22;2012. pii: bcr1120115136. doi: 10.1136/bcr-11-2011-5136.

PMID:
23175137
[PubMed - indexed for MEDLINE]
14.

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.

Terrinoni A, Serra V, Codispoti A, Talamonti E, Bui L, Palombo R, Sette M, Campione E, Didona B, Annicchiarico-Petruzzelli M, Zambruno G, Melino G, Candi E.

Cell Death Dis. 2012 Oct 25;3:e416. doi: 10.1038/cddis.2012.152.

PMID:
23096117
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Lamellar ichthyosis due to ALOX12B mutation.

Osório F, Leão M, Azevedo F, Magina S.

Actas Dermosifiliogr. 2013 Jun;104(5):443-4. doi: 10.1016/j.ad.2012.07.011. Epub 2012 Oct 17. No abstract available.

PMID:
23083690
[PubMed - indexed for MEDLINE]
16.

Keratinocyte ATP binding cassette transporter expression is regulated by ultraviolet light.

Markó L, Paragh G, Ugocsai P, Boettcher A, Vogt T, Schling P, Balogh A, Tarabin V, Orsó E, Wikonkál N, Mandl J, Remenyik E, Schmitz G.

J Photochem Photobiol B. 2012 Nov 5;116:79-88. doi: 10.1016/j.jphotobiol.2012.06.007. Epub 2012 Jun 25.

PMID:
22982209
[PubMed - indexed for MEDLINE]
17.

An overview of interleukin-1 receptor antagonist, anakinra, in the treatment of cutaneous diseases.

Pazyar N, Feily A, Yaghoobi R.

Curr Clin Pharmacol. 2012 Nov;7(4):271-5. Review.

PMID:
22794157
[PubMed - indexed for MEDLINE]
18.

First case of dizygotic twins with lamellar ichthyosis in Puerto Rico.

Reyes-Bou Z, García I, García L, Santiago-Borrero PJ, Valcárcel M.

Bol Asoc Med P R. 2012 Jan-Mar;104(1):40-2.

PMID:
22788077
[PubMed - indexed for MEDLINE]
19.

The human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the 'fused genes' family.

Kypriotou M, Huber M, Hohl D.

Exp Dermatol. 2012 Sep;21(9):643-9. doi: 10.1111/j.1600-0625.2012.01472.x. Epub 2012 Apr 16. Review.

PMID:
22507538
[PubMed - indexed for MEDLINE]
20.

Anesthetic challenges in lamellar ichthyosis.

Hegde HV, Annigeri VM, Pai VV.

Paediatr Anaesth. 2012 May;22(5):492-4. doi: 10.1111/j.1460-9592.2011.03749.x. No abstract available.

PMID:
22486908
[PubMed - indexed for MEDLINE]

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