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21 results

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Page 1
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.
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. 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.
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
Boyden LM, Atzmony L, Hamilton C, Zhou J, Lim YH, Hu R, Pappas J, Rabin R, Ekstien J, Hirsch Y, Prendiville J, Lifton RP, Ferguson S, Choate KA. Boyden LM, et al. Am J Hum Genet. 2019 Nov 7;105(5):1023-1029. doi: 10.1016/j.ajhg.2019.09.021. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630788 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.
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 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.
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.
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.
Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA. Levinsohn JL, et al. Among authors: boyden lm. J Invest Dermatol. 2013 Mar;133(3):827-830. doi: 10.1038/jid.2012.379. Epub 2012 Oct 25. J Invest Dermatol. 2013. PMID: 23096712 Free PMC article. No abstract available.
21 results