Results 281 to 290 of about 29,876 (307)
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Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis

Journal of dermatology (Print), 2018
TGM1 is the most common gene responsible for lamellar ichthyosis. Previous studies have suggested that patients with lamellar ichthyosis carrying two missense mutations in TGM1 show significantly less severe phenotypes than those with at least one ...
M. Takeda   +6 more
semanticscholar   +1 more source

Ichthyosis: Mechanisms of Disease

Pediatric Dermatology, 1992
Abstract: The disorders of cornification (Ichthyoses) comprise acquired and Inherited disorders characterized clinically by generalized sealing and histologically by hyperkeratosls. They may arise through defects In the production or maintenance of a normal cornmed cell compartment, or both.
openaire   +3 more sources

A Review of Harlequin Ichthyosis

Neonatal Network, 2005
Harlequin ichthyosis is an extremely rare and historically lethal congenital disorder of the skin caused by abnormal keratinization. This article reviews the embryology and currently understood pathophysiology of the disease, as well as current methods used to diagnose and treat these infants.
openaire   +3 more sources

Harlequin ichthyosis

The Indian Journal of Pediatrics, 2006
Sagori Mukhopadhyay, Ramesh Agarwal
openaire   +3 more sources

Ichthyosis

Proceedings of the Royal Society of Medicine, 1949
openaire   +2 more sources

Inherited ichthyosis: Non‐syndromic forms

Journal of dermatology (Print), 2016
T. Takeichi, M. Akiyama
semanticscholar   +1 more source

ICHTHYOSIS

Medical Journal of Australia, 1973
openaire   +2 more sources

Ichthyosis Congenita

Archives of Pediatrics & Adolescent Medicine, 1957
A B, FALK, H S, TRAISMAN, G J, AHERN
openaire   +2 more sources

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