Results 201 to 210 of about 517,181 (258)

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis. [PDF]

Mol Genet Genomic Med, 2020
Li L, Liu W, Xu Y, Li M, Tang Q, Yu B, Cai R, Liu S.   +7 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

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

Recognition and management of congenital ichthyosis in a low-income setting. [PDF]

BMJ Case Rep, 2019
Saso A, Dowsing B, Forrest K, Glover M.
europepmc   +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

Epidermal barrier disorders and corneodesmosome defects [PDF]

, 2014
Marek Haftek
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

Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis. [PDF]

Br J Dermatol, 2018
Polubothu S, Glover M, Holder SE, Kinsler VA.   +3 more
europepmc   +1 more source

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients. [PDF]

Case Rep Dermatol Med, 2018
Sathishkumar D, Peter D, Pulimood S, Wiegmann H, Valentin F, Thomas M, Hennies HC, Oji V.   +7 more
europepmc   +1 more source

Rickets in congenital ichthyosis: A case report and brief review

Simran S Tuli, Shibhani Sudheer Hegde, Vidyadhar R. Sardesai, Raisah Dilkush   +3 more
openalex   +1 more source