Results 181 to 190 of about 1,421 (196)

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

British Journal of Dermatology, 2020
Jacqueline Simpson, Alexandros Onoufriadis, J E Mellerio   +2 more
exaly  

Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulates hepatic paracellular permeability

Hepatology, 2012
Nadya Yousef
exaly  

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

American Journal of Human Genetics, 2017
Lisa Heinz, Slaheddine Marrakchi, Hamida Turki   +2 more
exaly  

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease

Gastroenterology, 2004
Pierre Vabres, Stanislas Lyonnet
exaly  

Epidermolytic hyperkeratosis with ichthyosis hystrix.

Cutis, 2001
G, Baleviciené, R A, Schwartz
openaire   +1 more source

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

American Journal of Human Genetics, 2007
Lina Basel-Vanagaite
exaly  

Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation

Journal of Dermatological Science, 2015
Eijiro Akasaka, Satoko Minakawa, Daiki Rokunohe, Yuka Toyomaki, Yasushi Matsuzaki, Daisuke Sawamura, Hajime Nakano   +6 more
openaire   +1 more source

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

PLoS Genetics, 2013
Franz P W Radner, Judith Fischer
exaly  

Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis

Biochimica Et Biophysica Acta - Molecular and Cell Biology of Lipids, 2014
Peter M Elias
exaly  

Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length

Journal of Investigative Dermatology, 2013
Susanne Brodesser, Peter Nürnberg, Anthony H Futerman   +2 more
exaly