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Results: 18

1.

ABCA12 is the major harlequin ichthyosis gene.

Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP.

J Invest Dermatol. 2006 Nov;126(11):2408-13. Epub 2006 Aug 10.

PMID:
16902423
[PubMed - indexed for MEDLINE]
Free Article
2.

ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.

Akiyama M.

Hum Mutat. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. Review.

PMID:
20672373
[PubMed - indexed for MEDLINE]
3.

Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction.

Scott CA, Rajpopat S, Di WL.

Cell Tissue Res. 2013 Feb;351(2):281-8. doi: 10.1007/s00441-012-1474-9. Epub 2012 Aug 4. Review.

PMID:
22864982
[PubMed - indexed for MEDLINE]
4.

Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases.

Akiyama M.

Arch Dermatol. 2006 Jul;142(7):914-8. Review.

PMID:
16847209
[PubMed - indexed for MEDLINE]
5.

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms.

Akiyama M.

J Dermatol Sci. 2006 May;42(2):83-9. Epub 2006 Feb 14. Review.

PMID:
16481150
[PubMed - indexed for MEDLINE]
6.

The gene family of ABC transporters--novel mutations, new phenotypes.

Uitto J.

Trends Mol Med. 2005 Aug;11(8):341-3. Review.

PMID:
15996518
[PubMed - indexed for MEDLINE]
7.

An update on molecular aspects of the non-syndromic ichthyoses.

Akiyama M, Shimizu H.

Exp Dermatol. 2008 May;17(5):373-82. doi: 10.1111/j.1600-0625.2007.00691.x. Epub 2008 Mar 12. Review.

PMID:
18341575
[PubMed - indexed for MEDLINE]
8.

Harlequin ichthyosis unmasked: a defect of lipid transport.

Hovnanian A.

J Clin Invest. 2005 Jul;115(7):1708-10. Review.

PMID:
16007249
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream.

Robert-Ebadi H, de Moerloose P, El Khorassani M, El Khattab M, Neerman-Arbez M.

Blood Coagul Fibrinolysis. 2009 Jul;20(5):385-7. doi: 10.1097/MBC.0b013e328329f2a0. Review.

PMID:
19417632
[PubMed - indexed for MEDLINE]
10.

The MECP2 gene mutation screening in Rett syndrome patients from Croatia.

Matijević T, Knezević J, Barisić I, Resić B, Culić V, Pavelić J.

Ann N Y Acad Sci. 2006 Dec;1091:225-32. Review.

PMID:
17341617
[PubMed - indexed for MEDLINE]
11.

Updated molecular genetics and pathogenesis of ichthiyoses.

Akiyama M.

Nagoya J Med Sci. 2011 Aug;73(3-4):79-90. Review.

PMID:
21928690
[PubMed - indexed for MEDLINE]
12.

Perinatal management of harlequin ichthyosis: a case report and literature review.

Harvey HB, Shaw MG, Morrell DS.

J Perinatol. 2010 Jan;30(1):66-72. doi: 10.1038/jp.2009.100. Review.

PMID:
20038941
[PubMed - indexed for MEDLINE]
13.

The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.

Akiyama M, Sawamura D, Shimizu H.

Clin Exp Dermatol. 2003 May;28(3):235-40. Review.

PMID:
12780701
[PubMed - indexed for MEDLINE]
14.

Harlequin ichthyosis. Variability in expression and hypothesis for disease mechanism.

Dale BA, Kam E.

Arch Dermatol. 1993 Nov;129(11):1471-7. Review.

PMID:
7694551
[PubMed - indexed for MEDLINE]
15.

Bathing suit ichthyosis.

Trindade F, Fiadeiro T, Torrelo A, Hennies HC, Hausser I, Traupe H.

Eur J Dermatol. 2010 Jul-Aug;20(4):447-50. doi: 10.1684/ejd.2010.1008. Epub 2010 Jun 3. Review.

PMID:
20522418
[PubMed - indexed for MEDLINE]
16.

Prenatal sonographic features of Harlequin ichthyosis.

Berg C, Geipel A, Kohl M, Krokowski M, Baschat AA, Germer U, Gembruch U.

Arch Gynecol Obstet. 2003 Apr;268(1):48-51. Epub 2002 Jul 6. Review.

PMID:
12673476
[PubMed - indexed for MEDLINE]
17.

Harlequin ichthyosis: A medico legal case report & review of literature with peculiar findings in autopsy.

Jilumudi UB.

J Forensic Leg Med. 2012 Aug;19(6):352-4. doi: 10.1016/j.jflm.2012.02.019. Epub 2012 Mar 7. Review.

PMID:
22847055
[PubMed - indexed for MEDLINE]
18.

Neonatal skin barrier: structure, function, and disorders.

Shwayder T, Akland T.

Dermatol Ther. 2005 Mar-Apr;18(2):87-103. Review.

PMID:
15953139
[PubMed - indexed for MEDLINE]

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