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Items: 1 to 20 of 67

1.

The Regulation of Steroid Action by Sulfation and Desulfation.

Mueller JW, Gilligan LC, Idkowiak J, Arlt W, Foster PA.

Endocr Rev. 2015 Oct;36(5):526-63. doi: 10.1210/er.2015-1036. Review.

2.

What's new with common genetic skin disorders?

Hand JL.

Curr Opin Pediatr. 2015 Aug;27(4):460-5. doi: 10.1097/MOP.0000000000000245. Review.

PMID:
26164153
3.

[New classification and genetic background of inherited ichthyoses].

Andersen RE, Hertz JM, Bygum A.

Ugeskr Laeger. 2014 Jul 14;176(29):V11130688. Review. Danish.

PMID:
25292205
4.

X-linked ichthyosis: differential diagnosis of low maternal oestriol level.

Liaugaudienė O, Benušienė E, Domarkienė I, Ambrozaitytė L, Kučinskas V.

J Obstet Gynaecol. 2014 Nov;34(8):737-9. doi: 10.3109/01443615.2014.925857. Review. No abstract available.

PMID:
24960317
5.

Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.

Elias PM, Williams ML, Choi EH, Feingold KR.

Biochim Biophys Acta. 2014 Mar;1841(3):353-61. doi: 10.1016/j.bbalip.2013.11.009. Review.

6.

Nonsyndromic types of ichthyoses - an update.

Traupe H, Fischer J, Oji V.

J Dtsch Dermatol Ges. 2014 Feb;12(2):109-21. doi: 10.1111/ddg.12229. Review.

7.

The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome.

Seeger MA, Paller AS.

Biochim Biophys Acta. 2014 Mar;1841(3):345-52. doi: 10.1016/j.bbalip.2013.09.006. Review.

PMID:
24060582
8.

The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome.

Cañueto J, Girós M, González-Sarmiento R.

Biochim Biophys Acta. 2014 Mar;1841(3):336-44. doi: 10.1016/j.bbalip.2013.09.002. Review.

PMID:
24036494
9.

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. Review.

PMID:
23870202
10.

The site-2 protease.

Rawson RB.

Biochim Biophys Acta. 2013 Dec;1828(12):2801-7. doi: 10.1016/j.bbamem.2013.03.031. Review.

11.

Detection of the STS gene in a family with X-linked recessive ichthyosis.

Wang N, An K, Liu H, Fu X, Yu G, Yu Y, Tian H, Zhang F.

Indian J Dermatol Venereol Leprol. 2013 Mar-Apr;79(2):268. doi: 10.4103/0378-6323.107669. Review. No abstract available.

12.

Pathogenesis-based therapies in ichthyoses.

Lai-Cheong JE, Elias PM, Paller AS.

Dermatol Ther. 2013 Jan-Feb;26(1):46-54. doi: 10.1111/j.1529-8019.2012.01528.x. Review.

13.

[X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion].

Carrascosa-Romero MC, Suela J, Alfaro-Ponce B, Cepillo-Boluda AJ.

Rev Neurol. 2012 Feb 16;54(4):241-8. Review. Spanish.

14.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.

Mégarbané H, Mégarbané A.

Orphanet J Rare Dis. 2011 May 21;6:29. doi: 10.1186/1750-1172-6-29. Review.

15.

X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.

Hernández-Martín A, Cuadrado-Corrales N, Ciria-Abad S, Arias-Palomo D, Mascaró-Galy JM, Escámez MJ, García M, Del Río M, Torrelo A, González-Sarmiento R.

Dermatology. 2010;221(2):113-6. doi: 10.1159/000313507. Review.

PMID:
20523032
16.

X-linked ichthyosis: an oculocutaneous genodermatosis.

Fernandes NF, Janniger CK, Schwartz RA.

J Am Acad Dermatol. 2010 Mar;62(3):480-5. doi: 10.1016/j.jaad.2009.04.028. Review.

PMID:
20080321
17.

Ichthyosis: clinical manifestations and practical treatment options.

Oji V, Traupe H.

Am J Clin Dermatol. 2009;10(6):351-64. doi: 10.2165/11311070-000000000-00000. Review.

PMID:
19824737
18.

Corneal dystrophies.

Klintworth GK.

Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Review.

19.

[What's new in pediatric dermatology?].

Vabres P.

Ann Dermatol Venereol. 2008 Dec;135 Suppl 7:S343-53. doi: 10.1016/S0151-9638(08)75487-5. Review. French.

PMID:
19264210
20.

Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.

Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M.

J Lipid Res. 2008 Apr;49(4):697-714. doi: 10.1194/jlr.R800002-JLR200. Review.

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