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Items: 10


Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

Gupta A, Sharma Y, Deo K, Vellarikkal S, Jayarajan R, Dixit V, Verma A, Scaria V, Sivasubbu S.

F1000Res. 2015 Jul 31;4:446. doi: 10.12688/f1000research.6779.1. eCollection 2015.


Collodion Baby with TGM1 gene mutation.

Sharma D, Gupta B, Shastri S, Pandita A, Pawar S.

Int Med Case Rep J. 2015 Sep 22;8:205-8. doi: 10.2147/IMCRJ.S91517. eCollection 2015.


Harlequin ichthyosis: a case report of prolonged survival.

Mithwani AA, Hashmi A, Shahnawaz S, Al Ghamdi Y.

BMJ Case Rep. 2014 Mar 7;2014. pii: bcr2013200884. doi: 10.1136/bcr-2013-200884.


Expedient treatment of a collodion baby.

Chung M, Pittenger J, Tobin S, Chung A, Desai N.

Case Rep Dermatol Med. 2011;2011:803782. doi: 10.1155/2011/803782. Epub 2011 Oct 15.


X-linked ichthyosis along with epidermolysis bullosa.

Pallagatti S, Sheikh S, Kaur A, Aggarwal A, Singh R.

Contemp Clin Dent. 2012 Apr;3(Suppl 1):S96-8. doi: 10.4103/0976-237X.95115.


Epidermal ADAM17 maintains the skin barrier by regulating EGFR ligand-dependent terminal keratinocyte differentiation.

Franzke CW, Cobzaru C, Triantafyllopoulou A, Löffek S, Horiuchi K, Threadgill DW, Kurz T, van Rooijen N, Bruckner-Tuderman L, Blobel CP.

J Exp Med. 2012 Jun 4;209(6):1105-19. doi: 10.1084/jem.20112258. Epub 2012 May 7. Erratum in: J Exp Med. 2012 Dec 17;209(13):2517.


The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever.

Mauldin EA, Credille KM, Dunstan RW, Casal ML.

Vet Pathol. 2008 Mar;45(2):174-80. doi: 10.1354/vp.45-2-174.


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. Epub 2008 Feb 2. Review.


Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

Dahlqvist J, Klar J, Hausser I, Anton-Lamprecht I, Pigg MH, Gedde-Dahl T Jr, Gånemo A, Vahlquist A, Dahl N.

J Med Genet. 2007 Oct;44(10):615-20. Epub 2007 Jun 8.

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