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Genetics of Inherited Ichthyoses and Related Diseases.
Fischer J, Bourrat E. Fischer J, et al. Among authors: bourrat e. Acta Derm Venereol. 2020 Mar 25;100(7):adv00096. doi: 10.2340/00015555-3432. Acta Derm Venereol. 2020. PMID: 32147747 Free PMC article. Review.
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.
Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Oji V, et al. Among authors: bourrat e. J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. J Am Acad Dermatol. 2010. PMID: 20643494 Review.
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. Grall A, et al. Among authors: bourrat e. Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. Nat Genet. 2012. PMID: 22246504
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Zimmer AD, Kim GJ, Hotz A, Bourrat E, Hausser I, Has C, Oji V, Stieler K, Vahlquist A, Kunde V, Weber B, Radner FPW, Leclerc-Mercier S, Schlipf N, Demmer P, Küsel J, Fischer J. Zimmer AD, et al. Among authors: bourrat e. Br J Dermatol. 2017 Aug;177(2):445-455. doi: 10.1111/bjd.15308. Epub 2017 Apr 28. Br J Dermatol. 2017. PMID: 28093717
KLICK syndrome: an unusual phenotype.
Onnis G, Bourrat E, Jonca N, Dreyfus I, Severino-Freire M, Pichery M, Fischer J, Mazereeuw-Hautier J. Onnis G, et al. Among authors: bourrat e. Br J Dermatol. 2018 Jun;178(6):1445-1446. doi: 10.1111/bjd.16318. Epub 2018 Apr 16. Br J Dermatol. 2018. PMID: 29315485 No abstract available.
Alitretinoin reduces erythema in inherited ichthyosis.
Onnis G, Chiaverini C, Hickman G, Dreyfus I, Fischer J, Bourrat E, Mazereeuw-Hautier J. Onnis G, et al. Among authors: bourrat e. Orphanet J Rare Dis. 2018 Apr 4;13(1):46. doi: 10.1186/s13023-018-0783-9. Orphanet J Rare Dis. 2018. PMID: 29618363 Free PMC article.
177 results