Results 121 to 130 of about 5,312 (130)

Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2

International Journal of Molecular Sciences, 2022
Masashi Akiyama, Takuya Takeichi, Tomoo Ogi   +2 more
exaly  

Epidermolytic Ichthyosis

Clinical Cases in Dermatology, 2022
exaly  

A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline

Journal of Investigative Dermatology, 2017
Masashi Akiyama, Takuya Takeichi, Yoshinao Muro   +2 more
exaly  

Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation

Journal of Dermatological Science, 2015
Satoko Minakawa, Yasushi Matsuzaki, Daiki Rokunohe   +2 more
exaly  

A novel homozygous keratin 10 mutation in siblings with autosomal recessive epidermolytic ichthyosis

Expert Review of Dermatology, 2010
Meena Balasubramanian, Manu Shāh, Bart E Wagner   +2 more
exaly  

Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1

American Journal of Human Genetics, 1999
Irwin McLean, Lynne T Smith, Virginia P Sybert   +2 more
exaly  

Histopathologic characterization of epidermolytic hyperkeratosis: A systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders

Journal of the American Academy of Dermatology, 2008
Leslie Robinson-Bostom, John Digiovanna, Philip Fleckman   +2 more
exaly  

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1

Experimental Dermatology, 2015
Michel van Geel, A Jeannette M Hoogeboom, Peter Steijlen   +2 more
exaly  

Exploring T17-mediated inflammation in epidermolytic ichthyosis: Clinical and mechanistic insight

Clinical Immunology
Huaguo Li, Xuanyi Chen
exaly  

Effective Management of Mosaic Epidermolytic Ichthyosis in a Pediatric Patient With Urea 30% Cream: A Case Report

Pediatric Dermatology
Wai Quen Lee
exaly