Results 181 to 190 of about 5,748 (201)

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

Human Mutation, 2010
Masashi Akiyama
exaly  

Congenital Ichthyosis

Journal of Cutaneous Medicine and Surgery
Friday Ilop Joseph, Otaru Muhammedtahir
openaire   +1 more source

Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosis

Experimental Dermatology, 2005
Yuki Tomita, Masashi Akiyama
exaly  

Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma

British Journal of Dermatology, 2008
A Gånemo, Juha Kêre
exaly  

Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents

Journal of Investigative Dermatology, 2019
Guy Yealland, Enrico Miceli, Robert Gruber   +2 more
exaly  

Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4

Journal of Dermatology, 2012
Afagh Alavi, Brandy Klotzle, Jian-Bing Fan   +2 more
exaly  

Epidemiology and clinical characteristics of bullous congenital ichthyosiform erythroderma (keratinolytic ichthyosis) in Japan: Results from a nationwide survey

Journal of the American Academy of Dermatology, 2013
Michiko Kurosawa, Akiko Tamakoshi, Keiji Iwatsuki   +2 more
exaly  

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

Human Mutation, 2018
Alrun Hotz, Svenja Alter, Íngrid Hausser   +2 more
exaly  

Congenital ichthyosis and endodermal sinus tumor of the ovary in a ten-year-old child

Medical and Pediatric Oncology, 1983
Massimo Lopez, Paola Papaldo, Massimo Lopez   +2 more
exaly  

A Patient with Congenital Ichthyosis Hystrix (Disseminated Congenital Naevus) and Acute Lymphoblastic Leukaemia

Leukemia and Lymphoma, 2003
W Y Au, C K Yeung, Henry H L Chan
exaly