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Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA. Boyden LM, et al. Among authors: youssefian l. Br J Dermatol. 2017 Jul;177(1):319-322. doi: 10.1111/bjd.15570. Epub 2017 Jun 7. Br J Dermatol. 2017. PMID: 28403545 Free PMC article. No abstract available.
Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.
Vahidnezhad H, Youssefian L, Baghdadi T, Sotoudeh S, Tavassoli A, Zeinali S, Afsharaalam S, Uitto J. Vahidnezhad H, et al. Among authors: youssefian l. Br J Dermatol. 2016 Oct;175(4):810-4. doi: 10.1111/bjd.14618. Epub 2016 Jul 27. Br J Dermatol. 2016. PMID: 27037860 No abstract available.
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
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. Simpson JK, et al. Among authors: youssefian l. Br J Dermatol. 2020 Mar;182(3):729-737. doi: 10.1111/bjd.18211. Epub 2019 Aug 26. Br J Dermatol. 2020. PMID: 31168818
Ichthyosis follicularis syndromes in patients with mutations in GJB2.
Youssefian L, Naji M, Park JS, Rajabi F, Abdollahimajd F, Mahmoudi H, Kamyab-Hesari K, Ghalamkarpour F, Zabihi M, Teimoorian M, Youssefian L, Zeinali S, Vahidnezhad H, Uitto J. Youssefian L, et al. Clin Exp Dermatol. 2022 Aug;47(8):1561-1566. doi: 10.1111/ced.15217. Epub 2022 Jun 23. Clin Exp Dermatol. 2022. PMID: 35396755
99 results