Results 131 to 140 of about 363,235 (161)

Congenital Ichthyosis and Spastic Diplegia: Sjögren-Larsson Syndrome. [PDF]

Indian Dermatol Online J
Liu HL, Sung YF, Chiang CP.
europepmc   +1 more source

Oral manifestation of autosomal recessive congenital ichthyosis in a 2-year-old patient. [PDF]

Case Rep Dent, 2014
Ramar K, Annamalai S, Hariharavel VP, Aravindhan R, Ganesh C, Ieshwaryah K.   +5 more
europepmc   +1 more source

Novel Compound Heterozygous Variants in <i>TGM1</i> and <i>CYP4F22</i> in Two Newborns with Non-Syndromic Epidermal Differentiation Disorders (<i>TGM1</i>-nEDD and <i>CYP4F22</i>-nEDD). [PDF]

J Clin Med
Serra G, Barbera G, Antona V, Malizia D, Neri I, Perre E, Piccione M, Vetro A, Vancini A, Giuffrè M, Corsello G.   +10 more
europepmc   +1 more source

Dysregulated cholesterol metabolism in genodermatoses: implications for systemic disease and therapeutic strategies. [PDF]

Front Cell Dev Biol
Xiao Z, Kang Y, Li R, Tan Y.
europepmc   +1 more source

Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. [PDF]

Int J Dermatol, 2014
Zambrano H, Montalvan M, Cabezas J, Lu Y, Yang CS, Milstone LM, Choate K.   +6 more
europepmc   +1 more source

Secukinumab for lamellar ichthyosis in an adolescent: a case report. [PDF]

Transl Pediatr
Li L, Wei F.
europepmc   +1 more source

A mixed-methods online survey approach using retrospective self-reporting to characterise congenital ichthyoses across age groups. [PDF]

Orphanet J Rare Dis
Elgie T, Davies W, Wren GH.
europepmc   +1 more source

Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient

Acta Dermato-Venereologica
Ryo Fukaura, Kana Tanahashi, Michiya Omi, Takuya Takeichi, Masashi Akiyama   +4 more
doaj   +1 more source

Gene therapy for genodermatoses at the crossroads of innovation and clinical translation. [PDF]

Front Bioeng Biotechnol
Fabrizi A, Valenti M, Zacchino S, Russo K, Baschetti E, De Rosa L, De Luca M.   +6 more
europepmc   +1 more source

Lamellar Ichthyosis in a Resource-Limited Setting: A Somaliland Case Report. [PDF]

Int Med Case Rep J
Aw Hashi MO, Derie AM, Ahmed SI.
europepmc   +1 more source