Results 131 to 140 of about 50,551 (154)

Identification of Pathogenic Variants in <i>CYP4F22</i>, <i>FLG</i>, <i>ALOX12B</i>, and <i>NIPAL4</i> in a Case Series of Inherited Ichthyosis. [PDF]

Int J Mol Sci
Sattar MA, Zaib AA, Abbasi H, Abideen MZU, Riazuddin S, Ahmed ZM, Naeem M.   +6 more
europepmc   +1 more source

Skin Lipid Dysregulation in Atopic Dermatitis and Related Inflammatory Skin Diseases. [PDF]

Allergy Asthma Immunol Res
Kim HB, Park J, Lim CS, Um JY, Chung BY, Park CW, Lee DK, Kim HO.   +7 more
europepmc   +1 more source

Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report. [PDF]

Clin Cosmet Investig Dermatol
Zhao C, Tao N, Ge L, Sun M, Su Y, Yang Y, Xu F, Huang Q, Xu L.   +8 more
europepmc   +1 more source

Bilateral Boston Keratoprosthesis implantation in a case of keratitis-ichthyosis-deafness syndrome after 31 years of follow-up. [PDF]

Digit J Ophthalmol
Cremona F, Jerabek MP.
europepmc   +1 more source

Harlequin Ichthyosis in a Preterm Neonate: A Case Report. [PDF]

Cureus
Ulmeanu AM, Damian DM, Nemes RM, Ionita CA.   +3 more
europepmc   +1 more source

Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1. [PDF]

Int J Dev Neurosci
Vaia Y, Mura E, Bruschi F, Zambrano S, Brena M, Tadini G, Arrigoni F, Antonello CE, Uggetti C, Parazzini C, Veggiotti P, Tonduti D.   +11 more
europepmc   +1 more source

Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis [PDF]

American Journal of Human Genetics, 1998
SummaryAutosomal recessive lamellar ichthyosis is a severe congenital disorder of keratinization, characterized by variable erythema of the whole body surface and by different scaling patterns.
Hans Christian Hennies, André Reis, Alice Krebsova   +2 more
exaly   +2 more sources

Novel Mutations of the Transglutaminase 1 Gene in Lamellar Ichthyosis [PDF]

Journal of Investigative Dermatology, 2001
Lamellar ichthyosis, one form of congenital autosomal recessive ichthyosis, is caused by mutations in the gene (TGM1) encoding the transglutaminase 1 enzyme. Mutations, deletions, or insertion of TGM1 have been reported so far.
Eleonora Candi, Peter M Steinert, J M Yang   +2 more
exaly   +2 more sources

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Journal of Biomolecular Structure and Dynamics

Journal of Biomolecular Structure and Dynamics, 2021
Khalidah Nasser, Babajan Banaganapalli, Noor A Shaik   +2 more
exaly