Results 121 to 130 of about 4,560 (196)

Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient. [PDF]

Acta Derm Venereol
Fukaura R, Tanahashi K, Omi M, Takeichi T, Akiyama M.   +4 more
europepmc   +1 more source

A cellular disease model toward gene therapy of TGM1-dependent lamellar ichthyosis. [PDF]

Mol Ther Methods Clin Dev
Sercia L, Romano O, Marini G, Enzo E, Forcato M, De Rosa L, De Luca M.   +6 more
europepmc   +1 more source

Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family. [PDF]

Ann Dermatol, 2019
Karim N, Iqbal J, Naeem M.
europepmc   +1 more source

Erosive pustular dermatosis of the scalp associated with lamellar ichthyosis successfully treated with dehydrated human amnion/chorion membrane allograft. [PDF]

JAAD Case Rep, 2018
Kempton DM, Maarouf M, Hendricks AJ, Shi VY.   +3 more
europepmc   +1 more source

Recurrent Coxsackievirus Infection in a Patient with Lamellar Ichthyosis. [PDF]

Pediatr Dermatol, 2016
Damsky WE, Leventhal JS, Khalil D, Vesely MD, Craiglow BG, Milstone LM, Choate KA.   +6 more
europepmc   +1 more source

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation. [PDF]

Front Pediatr, 2019
Alallasi SR, Kokandi AA, Banagnapali B, Shaik NA, Al-Shehri BA, Alrayes NM, Al-Aama JY, Jelani M.   +7 more
europepmc   +1 more source

Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases. [PDF]

Dermatopathology (Basel)
Süßmuth K, Oji V, Bodes J, Jochum I, Muhs F, Komlosi K, Hausser I, Schmuth M, Traupe H, Fischer J, Metze D.   +10 more
europepmc   +1 more source

Pseudoainhum and autoamputation associated with lamellar ichthyosis

Indian Journal of Dermatology, Venereology and Leprology, 2017
Biswanath, Behera, Debasis, Gochhait, Devinder Mohan, Thappa   +2 more
openaire   +2 more sources

The Candle Spot: An Unreported Sign of SULT2B1-nEDD. [PDF]

Acta Derm Venereol
Milesi S, Chiaverini C, Chêne L, Jonca N, Mazereeuw-Hautier J.   +4 more
europepmc   +1 more source

Liposomal Delivery System for Lamellar Ichthyosis : A 12R-LOX Enzyme Replacement Approach

Ichthyosis is an umbrella term that encompasses several rare skin diseases. Lamellar ichthyosisis a severe form of ichthyosis that seriously impacts the everyday life of the affected individuals.
Biechońska, Łucja, Wiglund, Tess, Ackemark, Moa, Ekelund, Ossian, Lindblom, Theo, Lindgren, Alexandra, Westlund, Nils, Wedlund, Felicia, Kreku, Isac   +8 more
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