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The expanding spectrum of human coronin 1A deficiency.
Moshous D, de Villartay JP. Moshous D, et al. Among authors: de villartay jp. Curr Allergy Asthma Rep. 2014 Dec;14(12):481. doi: 10.1007/s11882-014-0481-1. Curr Allergy Asthma Rep. 2014. PMID: 25269405 Review.
Artemis sheds new light on V(D)J recombination.
Le Deist F, Poinsignon C, Moshous D, Fischer A, de Villartay JP. Le Deist F, et al. Among authors: de villartay jp. Immunol Rev. 2004 Aug;200:142-55. doi: 10.1111/j.0105-2896.2004.00169.x. Immunol Rev. 2004. PMID: 15242402 Review.
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Mathieu AL, Verronese E, Rice GI, Fouyssac F, Bertrand Y, Picard C, Chansel M, Walter JE, Notarangelo LD, Butte MJ, Nadeau KC, Csomos K, Chen DJ, Chen K, Delgado A, Rigal C, Bardin C, Schuetz C, Moshous D, Reumaux H, Plenat F, Phan A, Zabot MT, Balme B, Viel S, Bienvenu J, Cochat P, van der Burg M, Caux C, Kemp EH, Rouvet I, Malcus C, Méritet JF, Lim A, Crow YJ, Fabien N, Ménétrier-Caux C, De Villartay JP, Walzer T, Belot A. Mathieu AL, et al. Among authors: de villartay jp. J Allergy Clin Immunol. 2015 Jun;135(6):1578-88.e5. doi: 10.1016/j.jaci.2015.01.040. Epub 2015 Apr 2. J Allergy Clin Immunol. 2015. PMID: 25842288 Free PMC article.
Phosphorylation of Artemis following irradiation-induced DNA damage.
Poinsignon C, de Chasseval R, Soubeyrand S, Moshous D, Fischer A, Haché RJ, de Villartay JP. Poinsignon C, et al. Among authors: de villartay jp, de chasseval r. Eur J Immunol. 2004 Nov;34(11):3146-55. doi: 10.1002/eji.200425455. Eur J Immunol. 2004. PMID: 15468306 Free article.
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
Felgentreff K, Lee YN, Frugoni F, Du L, van der Burg M, Giliani S, Tezcan I, Reisli I, Mejstrikova E, de Villartay JP, Sleckman BP, Manis J, Notarangelo LD. Felgentreff K, et al. Among authors: de villartay jp. J Allergy Clin Immunol. 2015 Jul;136(1):140-150.e7. doi: 10.1016/j.jaci.2015.03.005. Epub 2015 Apr 25. J Allergy Clin Immunol. 2015. PMID: 25917813 Free PMC article.
165 results