Results 181 to 190 of about 528,814 (282)

Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy [PDF]

, 2016
Chie Tamamoto‐Mochizuki, Frane Banović, Petra Bizikova, Aurore Laprais, Keith E. Linder, Thierry Olivry   +5 more
openalex   +1 more source

Mimicking the LOX-Related Autosomal Recessive Congenital Ichthyosis Skin Disease Using a CRISPR-Cas9 System and Unravelling 12S-LOX Function in the Skin. [PDF]

Dermatopathology (Basel)
Simard-Bisson C, Larochelle S, Moulin VJ, Fruteau de Laclos B.   +3 more
europepmc   +1 more source

Congenital Reticular Ichthyosiform Erythroderma -- Ichthyosis Variegata: a Case Report and Review of the Literature

, 2003
ALEKSANDAR KRUNIC, ALEKSANDAR KRUNIC, ALEKSANDAR KRUNIC, ALEKSANDAR KRUNIC   +3 more
openalex   +1 more source

Torsten Sjögren and Tage Larsson: Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatrica et neurologica scandinavica. Supplementum 113, Volumen 32, Einar Munksgaard Ed. Copenhagen 1957. [PDF]

, 1957
Mario Cirielli
openalex   +1 more source

A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay. [PDF]

Front Pediatr
Zhu L, Zhou R, Zhang L, Chen M, Zhang S, Huang X, Shi Y, Ding H.   +7 more
europepmc   +1 more source

Molecular Genetics of Autosomal Recessive Congenital Ichthyosis [PDF]

, 2000
Virolainen, Elina
core  

Genodermatoses [PDF]

, 2013
Uitto, Jouni
core   +2 more sources

Novel Mutations in ALOX12B in Patients with Autosomal Recessive Congenital Ichthyosis and Evidence for Genetic Heterogeneity on Chromosome 17p13 [PDF]

, 2006
Fabienne Lesueur, B. Bouadjar, Caroline Lefèvre, Florence Jobard, Stéphanie Audebert, Hakima Lakhdar, Ludovic Martin, Gianluca Tadini, Ayşen Karaduman, Serap Emre, Safa Saker, Mark Lathrop, Judith Fischer   +12 more
openalex   +1 more source

Preclinical evaluation of a modified HSV-1 vector encoding human TGM1 for the treatment of autosomal recessive congenital ichthyosis (ARCI).

Journal of Investigative Dermatology, 2020
J. C. Freedman, T. Parry, Peipei Zhang, A. Majumdar, S. Krishnan, Lauren K. Regula, M. O’Malley, S. Coghlan, S. Yogesha, S. Ramasamy, P. Agarwal   +10 more
semanticscholar   +1 more source

Autosomal recessive congenital ichthyosis caused by a novel variant in cornifelin gene: A case report. [PDF]

JAAD Case Rep
Almalki B, Alghamdi Y, Aman A, Alamri S, Alshareef A, Alraddadi A.   +5 more
europepmc   +1 more source