Below are the most recent publications written about "Ichthyosis" by people in Profiles.
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Onoufriadis A, Simpson JK, McDonald C, Nguyen TTM, Campeau PM, Simpson MA, Martinez AE, McGrath JA. Nonsyndromic erythrodermic ichthyosis resulting from a homozygous mutation in PIGL. Clin Exp Dermatol. 2020 Apr; 45(3):391-394.
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Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA. Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. Br J Dermatol. 2020 03; 182(3):729-737.
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Vivino FB, Bunya VY, Massaro-Giordano G, Johr CR, Giattino SL, Schorpion A, Shafer B, Peck A, Sivils K, Rasmussen A, Chiorini JA, He J, Ambrus JL. Sjogren's syndrome: An update on disease pathogenesis, clinical manifestations and treatment. Clin Immunol. 2019 06; 203:81-121.
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Wong XFCC, Denil SLIJ, Foo JN, Chen H, Tay ASL, Haines RL, Tang MBY, McLean WHI, Sandilands A, Smith FJD, Lane EB, Liu J, Common JEA. Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants. J Allergy Clin Immunol. 2018 02; 141(2):814-816.
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Bochner R, Samuelov L, Sarig O, Li Q, Adase CA, Isakov O, Malchin N, Vodo D, Shayevitch R, Peled A, Yu BD, Fainberg G, Warshauer E, Adir N, Erez N, Gat A, Gottlieb Y, Rogers T, Pavlovsky M, Goldberg I, Shomron N, Sandilands A, Campbell LE, MacCallum S, McLean WHI, Ast G, Gallo RL, Uitto J, Sprecher E. Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. J Invest Dermatol. 2017 02; 137(2):385-393.
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Lwin SM, Hsu CK, McMillan JR, Mellerio JE, McGrath JA. Ichthyosis Prematurity Syndrome: From Fetus to Adulthood. JAMA Dermatol. 2016 09 01; 152(9):1055-8.
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Takeichi T, Liu L, Abdul-Wahab A, McMillan JR, Stone KL, Akiyama M, Simpson MA, Parsons M, Mellerio JE, McGrath JA. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic?Ichthyosis. J Invest Dermatol. 2016 10; 136(10):2095-2098.
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Takeichi T, Nanda A, Aristodemou S, McMillan JR, Lee J, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family. Br J Dermatol. 2015; 172(5):1407-11.
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Fong K, Takeichi T, Liu L, Pramanik R, Lee J, Akiyama M, McGrath JA. Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2. Clin Exp Dermatol. 2015 Jul; 40(5):529-32.
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Fong K, Wedgeworth EK, Lai-Cheong JE, Tosi I, Mellerio JE, Powell AM, McGrath JA. MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. Clin Exp Dermatol. 2012 Aug; 37(6):631-4.