Disease: Lamellar ichthyosis- type 2
- A case of harlequin ichthyosis treated with isotretinoin
- A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
- ABHD5 frameshift deletion in Golden Retrievers with ichthyosis
- Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2
- Assays for transglutaminases in cell death
- Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2
- Autophagy facilitates secretion and protects against degeneration of the Harderian gland
- Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome)
- Chronic dermatophytosis in lamellar ichthyosis: relevance of a T-helper 2-type immune response to Trichophyton rubrum
- Cicatricial ectropion in progressive skin diseases
- Clinical documentation, research and observations on familial primary keratodermia of the congenital ichthyosiform hyperkeratosic type
- Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis
- Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation
- Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome
- Development of a carbocysteine 10% + urea 5% cream for the topical treatment of congenital ichthyosis
- Dry eye and Meibomian gland dysfunction with meibography in patients with lamellar ichthyosis
- Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease
- Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis
- Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens
- Functional and Physical Interaction of Diacylglycerol Kinase ζ with Protein Kinase Cα Is Required for Cerebellar Long-Term Depression
- Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions
- Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients
- Harlequin fetus: A case report
- Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis
- Harlequin ichthyosis due to novel splice site mutation in the ABCA12 gene: postnatal to prenatal diagnosis
- Harlequin ichthyosis--difficulties in prenatal diagnosis
- Harlequin ichthyosis. Variability in expression and hypothesis for disease mechanism
- Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form
- Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules
- High frequency of primary hereditary ichthyoses in the North-East region of Cairo, Egypt
- Ichthyosis congenita, mild type
- Ichthyosis with laminated membrane structures
- Ichthyosis, a familial disease; heredity of a diagenic type in an interesting family tree
- Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1
- Involvement of corneodesmosome degradation and lamellar granule transportation in the desquamation process
- LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum
- Management of ocular manifestations of autosomal recessive congenital ichthyosis 4B, harlequin type, in the perinatal period
- Migratory ichthyosiform dermatosis with type 2 diabetes mellitus and insulin resistance
- Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
- Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
- Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
- NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis
- Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children
- Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations
- Primary hereditary ichthyoses in the Eastern Province of Saudi Arabia
- Quantification of n-alkanes in stratum corneum in the hereditary ichthyoses
- Recessive ichthyosis congenita type IV
- Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosis
- Successful treatment with topical N-acetylcysteine in urea in five children with congenital lamellar ichthyosis
- The cytoskeleton in hereditary ichthyoses
- The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis
- Threshold levels of 25-hydroxyvitamin D and parathyroid hormone for impaired bone health in children with congenital ichthyosis and type IV and V skin
- Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs
- Transglutaminase diseases: from biochemistry to the bedside
- Type I lamellar ichthyosis improved by tazarotene 0.1% gel
- Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma
- Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling