Results 271 to 280 of about 528,814 (282)

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

British Journal of Dermatology, 2017
A. Zimmer, Gwang-Jin Kim, A. Hotz, E. Bourrat, I. Hausser, C. Has, V. Oji, K. Stieler, A. Vahlquist, V. Kunde, Benedikt Weber, F. Radner, S. Leclerc‐Mercier, N. Schlipf, P. Demmer, J. Küsel, J. Fischer   +16 more
semanticscholar   +1 more source

Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis

Journal of Dermatological Science, 2017
exaly  

Ichthyosis vulgaris: the filaggrin mutation disease

British Journal of Dermatology, 2013
exaly  

[Generalized congenital ichthyosis].

Archives belges de dermatologie et de syphiligraphie, 2003
openaire   +1 more source

[Case of congenital ichthyosis].

Hellenike iatrike, 1998
K, PADIATELLES, K, KONSTANTOPOULOU
openaire   +1 more source

Partial congenital ichthyosis.

Proceedings of the Royal Society of Medicine, 2003
openaire   +1 more source

Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond

British Journal of Dermatology, 2016
exaly  

Trichothiodystrophy with congenital ichthyosis

2011
openaire   +1 more source

[Congenital ichthyosis in twins].

Fortschritte der Medizin, 1982
G, Sparrer, B, Kernert
openaire   +1 more source

Trichothiodystrophy with congenital ichthyosis

2004
openaire   +1 more source