Results 281 to 290 of about 31,665 (304)

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Nature Genetics, 2006
Alan D Irvine, , W H Irwin Mclean
exaly  

Ichthyosis vulgaris

Clinical Genetics, 1979
openaire   +2 more sources

Ichthyosis

1996
Item does not contain ...
openaire   +2 more sources

Ichthyosis

2013
S Sacchidanand, AS Savitha, K Shilpa
  +4 more sources

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Nature Genetics, 2007
Peter R Hull, Matthias Schmuth, Robert Gruber   +2 more
exaly  

PAR2 absence completely rescues inflammation and ichthyosis caused by altered CAP1/Prss8 expression in mouse skin

Nature Communications, 2011
Bernadette Breiden, Konrad Sandhoff, Samuel Rotman   +2 more
exaly  

Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function

American Journal of Pathology, 2011
Robert Gruber, Peter M Elias
exaly  

Whole‐exome sequencing for diagnosis of hereditary ichthyosis

Journal of the European Academy of Dermatology and Venereology, 2018
J. Sitek, M. Kulseth, K. Rypdal, T. Skodje, Y. Sheng, L. Retterstøl   +5 more
semanticscholar   +1 more source

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