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Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study.
Papanikolaou M, Nattkemper L, Benzian-Olsson N, Liu L, Guy A, Lu H, Kadiyirire T, Hou PC, Aala W, Serrano S, Pramanik R, Walters N, Dimitrakopoulou K, Lwin S, Kalfas E, Satoc J, Laddach R, Cozzetto D, Thomas B, Kesidou E, Rashidghamat E, Orchard G, O'Toole EA, Hsu CK, Saqi M, Steinhoff M, Onoufriadis A, Yosipovitch G, Gould H, Mellerio JE, McGrath JA. Papanikolaou M, et al. Among authors: o toole ea. J Am Acad Dermatol. 2024 Mar 13:S0190-9622(24)00487-0. doi: 10.1016/j.jaad.2024.01.088. Online ahead of print. J Am Acad Dermatol. 2024. PMID: 38484894 Free article. No abstract available.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: o toole ea. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.
O'Toole EA, Kelsell DP, Caterina MJ, de Brito M, Hansen D, Hickerson RP, Hovnanian A, Kaspar R, Lane EB, Paller AS, Schwartz J, Shroot B, Teng J, Titeux M, Coulombe PA, Sprecher E. O'Toole EA, et al. J Invest Dermatol. 2024 Apr;144(4):748-754. doi: 10.1016/j.jid.2023.10.030. Epub 2023 Dec 15. J Invest Dermatol. 2024. PMID: 38099888 Review.
A retrospective study on the liver toxicity of oral retinoids in Chanarin-Dorfman syndrome.
Valette C, Jonca N, Fischer J, Pernin-Grandjean J, Granier Tournier C, Diociaiuti A, Neri I, Dreyfus I, Furman M, Giehl K, Wollenberg A, Mallet S, Martin L, Martin-Santiago A, Onnis G, Broue P, Leclerc-Mercier S, Schmuth M, Sprecher E, Gruber R, Suessmuth K, Bourrat E, Komlosi K, Hill S, O'Toole EA, Schischmanoff O, Caux F, Mazereeuw-Hautier J; French Pediatric Dermatology Research Group and of the ‘ERN-Skin Network’. Valette C, et al. Among authors: o toole ea. J Eur Acad Dermatol Venereol. 2023 Oct;37(10):e1237-e1241. doi: 10.1111/jdv.19235. Epub 2023 Jun 20. J Eur Acad Dermatol Venereol. 2023. PMID: 37257069 No abstract available.
142 results