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Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
Vahidnezhad H, Youssefian L, Saeidian AH, Boyden LM, Touati A, Harvey N, Naji M, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Choate KA, McGrath JA, Uitto J. Vahidnezhad H, et al. Among authors: boyden lm. Matrix Biol. 2021 May;99:43-57. doi: 10.1016/j.matbio.2021.05.002. Epub 2021 May 15. Matrix Biol. 2021. PMID: 34004352
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. 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.
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. Among authors: boyden lm. JAMA Dermatol. 2017 Jun 1;153(6):537-543. doi: 10.1001/jamadermatol.2017.0202. JAMA Dermatol. 2017. PMID: 28403434 Free PMC article.
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Boyden LM, et al. Am J Hum Genet. 2020 Jul 2;107(1):158-163. doi: 10.1016/j.ajhg.2020.05.013. Epub 2020 Jun 8. Am J Hum Genet. 2020. PMID: 32516568 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. 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.
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, Loring E, Craiglow BG, Milstone LM, Lifton RP, Boyden LM, Choate KA. Sun Q, et al. Among authors: boyden lm. JAMA Dermatol. 2022 Jan 1;158(1):16-25. doi: 10.1001/jamadermatol.2021.4242. JAMA Dermatol. 2022. PMID: 34851365 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: boyden lm. 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.
21 results