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Results: 1 to 20 of 119

1.

High survival rate of harlequin ichthyosis in Japan.

Shibata A, Ogawa Y, Sugiura K, Muro Y, Abe R, Suzuki T, Akiyama M.

J Am Acad Dermatol. 2014 Feb;70(2):387-8. doi: 10.1016/j.jaad.2013.10.055. No abstract available.

PMID:
24438961
[PubMed - indexed for MEDLINE]
2.

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]
3.

A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion.

Park SH, Shin JY, Park YM, Youn YA, Kim M.

Can J Ophthalmol. 2013 Dec;48(6):e144-5. doi: 10.1016/j.jcjo.2013.06.004. No abstract available.

PMID:
24314425
[PubMed - indexed for MEDLINE]
4.

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
5.

Improving outcomes for harlequin ichthyosis.

Milstone LM, Choate KA.

J Am Acad Dermatol. 2013 Nov;69(5):808-9. doi: 10.1016/j.jaad.2013.06.017. No abstract available.

PMID:
24124810
[PubMed - indexed for MEDLINE]
6.

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]
7.

Fatty aldehyde and fatty alcohol metabolism: review and importance for epidermal structure and function.

Rizzo WB.

Biochim Biophys Acta. 2014 Mar;1841(3):377-89. doi: 10.1016/j.bbalip.2013.09.001. Epub 2013 Sep 12. Review.

PMID:
24036493
[PubMed - indexed for MEDLINE]
8.

Identifying a hyperkeratosis signature in autosomal recessive congenital ichthyosis: Mdm2 inhibition prevents hyperkeratosis in a rat ARCI model.

Youssef G, Ono M, Brown SJ, Kinsler VA, Sebire NJ, Harper JI, O'Shaughnessy RF.

J Invest Dermatol. 2014 Mar;134(3):858-61. doi: 10.1038/jid.2013.374. Epub 2013 Sep 4. No abstract available.

PMID:
24005053
[PubMed - indexed for MEDLINE]
9.

Ceramide synthesis in the epidermis.

Rabionet M, Gorgas K, Sandhoff R.

Biochim Biophys Acta. 2014 Mar;1841(3):422-34. doi: 10.1016/j.bbalip.2013.08.011. Epub 2013 Aug 27. Review.

PMID:
23988654
[PubMed - indexed for MEDLINE]
10.

The role of lipoxygenases in epidermis.

Krieg P, Fürstenberger G.

Biochim Biophys Acta. 2014 Mar;1841(3):390-400. doi: 10.1016/j.bbalip.2013.08.005. Epub 2013 Aug 16. Review.

PMID:
23954555
[PubMed - indexed for MEDLINE]
11.

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]
12.

The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function.

Radner FP, Fischer J.

Biochim Biophys Acta. 2014 Mar;1841(3):409-15. doi: 10.1016/j.bbalip.2013.07.013. Epub 2013 Aug 6. Review.

PMID:
23928127
[PubMed - indexed for MEDLINE]
13.

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]
14.

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]
15.

A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris.

Hernández-Martin A, Aranegui B, Martin-Santiago A, Garcia-Doval I.

J Am Acad Dermatol. 2013 Oct;69(4):544-549.e8. doi: 10.1016/j.jaad.2013.05.017. Epub 2013 Jul 16. Review.

PMID:
23870202
[PubMed - indexed for MEDLINE]
16.

Clinical outcome of collodion baby: a retrospective review.

Aradhya SS, Srinivas SM, Hiremagalore R, Shanmukappa AG.

Indian J Dermatol Venereol Leprol. 2013 Jul-Aug;79(4):553. doi: 10.4103/0378-6323.113110. Review. No abstract available.

PMID:
23760337
[PubMed - indexed for MEDLINE]
Free Article
17.

Nucleic acid-based non-invasive prenatal diagnosis of genetic skin diseases: are we ready?

Ma Y, Gong H, Wen Y.

Exp Dermatol. 2013 Jun;22(6):392-5. doi: 10.1111/exd.12156.

PMID:
23711062
[PubMed - indexed for MEDLINE]
18.

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]
19.

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]
20.

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]

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