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 Apr 17; 190(5):617-627.
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Fukuda N, Kanai D, Hoshino K, Fukuda Y, Morita R, Ishikawa Y, Kanaoka T, Toya Y, Kirino Y, Wakui H, Tamura K. Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome presenting as recurrent aseptic peritonitis in a patient receiving peritoneal dialysis: a case report. BMC Nephrol. 2024 Jan 11; 25(1):18.
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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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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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Valentin MN, Solomon BD, Richard G, Ferreira CR, Kirkorian AY. Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia. Am J Med Genet A. 2018 11; 176(11):2451-2455.
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McGrath JA. The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin?Diseases. J Invest Dermatol. 2017 05; 137(5):e83-e86.
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Campbell JP, Ataer-Cansizoglu E, Bolon-Canedo V, Bozkurt A, Erdogmus D, Kalpathy-Cramer J, Patel SN, Reynolds JD, Horowitz J, Hutcheson K, Shapiro M, Repka MX, Ferrone P, Drenser K, Martinez-Castellanos MA, Ostmo S, Jonas K, Chan RV, Chiang MF. Expert Diagnosis of Plus Disease in Retinopathy of Prematurity From Computer-Based Image Analysis. JAMA Ophthalmol. 2016 Jun 01; 134(6):651-7.
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Katsman D, Klufas MA, Sarraf D, Sadda S. Retinal Arterial Tortuosity in Moyamoya Disease. JAMA Ophthalmol. 2016 Jan; 134(1):111-4.