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Page 1
A mutation in TP63 causing a mild ectodermal dysplasia phenotype.
Goldsmith T, Eytan O, Magal L, Solomon M, Israeli S, Warshauer E, Grafi-Cohen M, Aberdam D, van Bokhoven H, Zhou H, Sarig O, Sprecher E, Nousbeck J. Goldsmith T, et al. Among authors: warshauer e. J Invest Dermatol. 2014 Aug;134(8):2277-2280. doi: 10.1038/jid.2014.159. Epub 2014 Mar 27. J Invest Dermatol. 2014. PMID: 24675753 Free article. No abstract available.
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.
Bochner R, Samuelov L, Sarig O, Li Q, Adase CA, Isakov O, Malchin N, Vodo D, Shayevitch R, Peled A, Yu BD, Fainberg G, Warshauer E, Adir N, Erez N, Gat A, Gottlieb Y, Rogers T, Pavlovsky M, Goldberg I, Shomron N, Sandilands A, Campbell LE, MacCallum S, McLean WHI, Ast G, Gallo RL, Uitto J, Sprecher E. Bochner R, et al. Among authors: warshauer e. J Invest Dermatol. 2017 Feb;137(2):385-393. doi: 10.1016/j.jid.2016.07.043. Epub 2016 Oct 18. J Invest Dermatol. 2017. PMID: 27769845 Free article.
Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris.
Eytan O, Qiaoli L, Nousbeck J, van Steensel MA, Burger B, Hohl D, Taïeb A, Prey S, Bachmann D, Avitan-Hersh E, Jin Chung H, Shemer A, Trau H, Bergman R, Fuchs-Telem D, Warshauer E, Israeli S, Itin PH, Sarig O, Uitto J, Sprecher E. Eytan O, et al. Among authors: warshauer e. Br J Dermatol. 2014 May;170(5):1196-8. doi: 10.1111/bjd.12799. Br J Dermatol. 2014. PMID: 24359224 No abstract available.
SVEP1 plays a crucial role in epidermal differentiation.
Samuelov L, Li Q, Bochner R, Najor NA, Albrecht L, Malchin N, Goldsmith T, Grafi-Cohen M, Vodo D, Fainberg G, Meilik B, Goldberg I, Warshauer E, Rogers T, Edie S, Ishida-Yamamoto A, Burzenski L, Erez N, Murray SA, Irvine AD, Shultz L, Green KJ, Uitto J, Sprecher E, Sarig O. Samuelov L, et al. Among authors: warshauer e. Exp Dermatol. 2017 May;26(5):423-430. doi: 10.1111/exd.13256. Epub 2017 Feb 20. Exp Dermatol. 2017. PMID: 27892606 Free PMC article.
Variant PADI3 in Central Centrifugal Cicatricial Alopecia.
Malki L, Sarig O, Romano MT, Méchin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E. Malki L, et al. Among authors: warshauer e. N Engl J Med. 2019 Feb 28;380(9):833-841. doi: 10.1056/NEJMoa1816614. Epub 2019 Feb 13. N Engl J Med. 2019. PMID: 30763140
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.
Warshauer EM, Brown A, Fuentes I, Shortt J, Gignoux C, Montinaro F, Metspalu M, Youssefian L, Vahidnezhad H, Jacków J, Christiano AM, Uitto J, Fajardo-Ramírez ÓR, Salas-Alanis JC, McGrath JA, Consuegra L, Rivera C, Maier PA, Runfeldt G, Behar DM, Skorecki K, Sprecher E, Palisson F, Norris DA, Bruckner AL, Kogut I, Bilousova G, Roop DR. Warshauer EM, et al. Am J Med Genet A. 2021 Nov;185(11):3390-3400. doi: 10.1002/ajmg.a.62456. Epub 2021 Aug 26. Am J Med Genet A. 2021. PMID: 34435747 Free PMC article.
14 results