Results 171 to 180 of about 573,924 (254)

Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature. [PDF]

J Pediatr Genet, 2022
Dawman L, Kaur A, Nada R, Chakraborty S, Handa S, Sharawat IK, Tiewsoh K.   +6 more
europepmc   +1 more source

A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma [PDF]

, 2014
Barnicoat, A, Drury, S, Harper, JI, Khan, A, Kinsler, VA, Lench, N, O'Shaughnessy, RF, Rukaite, G, Waelchli, R   +8 more
core   +1 more source

Sjögren-Larsson syndrome in two brothers: a case report [PDF]

, 2009
Farid Rezaei Moghaddam, Farid Safar, Mahsa Asheghan, Zahra Reza Soltani, Fatemeh Dehghani Zade   +4 more
core   +1 more source

Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10 [PDF]

, 2014
Baty, D., Lamb, R. C., Lang, J., McLean, W. H. I., Terron-Kwiatowski, A., Zamiri, M.   +5 more
core   +2 more sources

Congenital ichthyosis associated with Trichophyton rubrum tinea, imitating drug hypersensitivity reaction. [PDF]

Med Mycol Case Rep, 2020
Szlávicz E, Németh C, Szepes É, Gyömörei C, Gyulai R, Lengyel Z.   +5 more
europepmc   +1 more source

Epidermal barrier disorders and corneodesmosome defects [PDF]

, 2014
Marek Haftek
core   +1 more source

PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega‐O‐acylceramide synthesis and skin permeability barrier

Human Molecular Genetics, 2017
M. Pichery, A. Huchenq, R. Sandhoff, M. Severino‐Freire, S. Zaafouri, L. Opálka, T. Levade, Vanessa Soldan, J. Bertrand-Michel, É. Lhuillier, G. Serre, A. Maruani, J. Mazereeuw-Hautier, N. Jonca   +13 more
semanticscholar   +1 more source

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis. [PDF]

Acta Derm Venereol, 2020
Mazereeuw-Hautier J, Severino-Freire M, Gaston V, Texier H, Vincent M, Aubert H, Morice-Picard F, Jonca N.   +7 more
europepmc   +1 more source

Connexin26 and 43 play a role in regulating pro-inflammatory events in the epidermis [PDF]

, 2019
Bartholomew, Christopher, García-Vega, Laura, Jan, Afnan, Martin, Patricia E., O'Shaughnessy, Erin M.   +4 more
core   +1 more source

Ichthyosis Prematurity Syndrome:From Fetus to Adulthood [PDF]

, 2016
Hsu, Chao-Kai, Lwin, Su M, McGrath, John A, McMillan, James R, Mellerio, Jemima E   +4 more
core   +1 more source