Results 191 to 200 of about 528,814 (282)

Genetic inheritance in tandem: Non-syndromic autosomal recessive congenital ichthyosis with beta-thalassaemia: A rare coincidence

Arnab Ghorui, Gurleen Kaur, Chandra M. Kumar   +2 more
openalex   +1 more source

CONGENITAL LAMELLAR ICHTHYOSIS IN NEWBORN: A CASE REPORT

, 2015
Md. Jakeer, Rajesh Kumar, Lalat Barun, Patra   +3 more
openalex   +2 more sources

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

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

Lamellar congenital ichthyosis in practice of dermatologists

, 2016
С. В. Кошкин, Т. В. Чермных, А. Л. Евсеева, V. V. Ryabova, A. N. Ryabov   +4 more
openalex   +2 more sources

A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient [PDF]

, 2014
D. Vaigundan, Neha V. Kalmankar, J Krishnappa, N. Yellappa Gowda, A. V. M. Kutty, P. R. Krishnaswamy   +5 more
openalex   +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

Clinical Spectrum of Congenital Ichthyosis in a Moroccan Pediatric Study

Narjess Er-rachdy, Ouissal Essadeq, Laïla Benzekri, Nadia Ismaili   +3 more
openalex   +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

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