Below are the most recent publications written about "Skin Diseases, Genetic" by people in Profiles.
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Ayub M, Kaminoff L, Maity A, Ali Z. Detailed primary localised cutaneous nodular amyloidosis clinical and pathological workup. BMJ Case Rep. 2024 Nov 12; 17(11).
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Guri-Lamce I, AlRokh Y, Kim Y, Maeshima R, Graham C, Hart SL, McGrath JA, Jack?w-Malinowska J. Topical gene editing therapeutics using lipid nanoparticles: 'gene creams' for genetic skin diseases? Br J Dermatol. 2024 04 17; 190(5):617-627.
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Shah R, Truong T, Schwartz RA, Lambert MW, Parish LC, Janniger E, Lambert WC. Annular and acral/facial dyskeratotic paraneoplastic disorders. Clin Dermatol. 2023 May-Jun; 41(3):396-404.
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O'Sullivan S, Ozoemena L, Liu L, McGrath JA, Mellerio JE, Martinez AE. PLACK syndrome: the penny dropped. Clin Exp Dermatol. 2020 Dec; 45(8):1091-1092.
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Mohamad J, Nanda A, Pavlovsky M, Peled A, Malchin N, Malovitski K, Pramanik R, Weissglas-Volkov D, Shomron N, McGrath J, Sprecher E, Sarig O. Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis. Exp Dermatol. 2020 08; 29(8):742-748.
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Chiu FPC, Wessagowit V, Cakmak MF, Doolan BJ, Kootiratrakarn T, Chaowalit P, Bunnag T, Simpson MA, McGrath JA, Onoufriadis A. Molecular basis and inheritance patterns of amyloidosis cutis dyschromica. Clin Exp Dermatol. 2020 Jul; 45(5):650-653.
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Onoufriadis A, Ahmed N, Bessar H, Guy A, Liu L, Marantzidis A, Kesidou E, Papanikolaou M, Simpson MA, Mellerio JE, Lee JYW, McGrath JA. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis. J Invest Dermatol. 2020 06; 140(6):1285-1288.
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Onoufriadis A, Hsu CK, Eide CR, Nanda A, Orchard GE, Tomita K, Sheriff A, Scott W, Tierney C, Lee JYW, Gomaa NS, Desomchoke R, Lwin SM, Tu WT, Chen LY, Huang HY, Chao SC, Yu-Yun Lee J, Bare Y, Hayday T, Guy AL, Liu L, Lees C, Hirdler T, Lovell P, Xia L, Dayrit JF, Calonje E, Simpson MA, Tolar J, Parsons M, McGrath JA. Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica. J Invest Dermatol. 2019 12; 139(12):2550-2554.e9.
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Trayes KP, Savage K, Studdiford JS. Annular Lesions: Diagnosis and Treatment. Am Fam Physician. 2018 09 01; 98(5):283-291.
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McGrath JA. Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'. Br J Dermatol. 2018 02; 178(2):328.