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Impact of epidermal desquamation on tissue stores of iron.
Milstone LM, Hu RH, Dziura JD, Zhou J. Milstone LM, et al. J Dermatol Sci. 2012 Jul;67(1):9-14. doi: 10.1016/j.jdermsci.2012.04.003. Epub 2012 Apr 13. J Dermatol Sci. 2012. PMID: 22575277 Free PMC article.
Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome.
Boyden LM, Kam CY, Hernández-Martín A, Zhou J, Craiglow BG, Sidbury R, Mathes EF, Maguiness SM, Crumrine DA, Williams ML, Hu R, Lifton RP, Elias PM, Green KJ, Choate KA. Boyden LM, et al. Among authors: hu r. Hum Mol Genet. 2016 Jan 15;25(2):348-57. doi: 10.1093/hmg/ddv481. Epub 2015 Nov 24. Hum Mol Genet. 2016. PMID: 26604139 Free PMC article.
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
Marukian NV, Hu RH, Craiglow BG, Milstone LM, Zhou J, Theos A, Kaymakcalan H, Akkaya DA, Uitto JJ, Vahidnezhad H, Youssefian L, Bayliss SJ, Paller AS, Boyden LM, Choate KA. Marukian NV, et al. JAMA Dermatol. 2017 Jun 1;153(6):537-543. doi: 10.1001/jamadermatol.2017.0202. JAMA Dermatol. 2017. PMID: 28403434 Free PMC article.
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: hu rh. 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.
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Boyden LM, et al. Among authors: hu r. Am J Hum Genet. 2017 Jun 1;100(6):978-984. doi: 10.1016/j.ajhg.2017.05.003. Am J Hum Genet. 2017. PMID: 28575652 Free PMC article.
CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.
Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, Milstone LM, Paller AS, Choate KA. Craiglow BG, et al. Among authors: hu r. J Am Acad Dermatol. 2018 Sep;79(3):487-494. doi: 10.1016/j.jaad.2018.02.034. Epub 2018 Mar 1. J Am Acad Dermatol. 2018. PMID: 29477734 Free PMC article.
Mutations in PERP Cause Dominant and Recessive Keratoderma.
Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschké P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A. Duchatelet S, et al. Among authors: hu r. J Invest Dermatol. 2019 Feb;139(2):380-390. doi: 10.1016/j.jid.2018.08.026. Epub 2018 Oct 12. J Invest Dermatol. 2019. PMID: 30321533 Free PMC article.
6,611 results