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Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P. Le Guen T, et al. Among authors: de villartay jp. Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591994
T cell activation deficiencies.
Le Deist F, Hivroz C, Partiseti M, Rieux-Laucat F, Debatin KM, Choquet D, De Villartay JP, Fischer A. Le Deist F, et al. Among authors: de villartay jp. Clin Immunol Immunopathol. 1995 Sep;76(3 Pt 2):S163-4. doi: 10.1016/s0090-1229(95)90072-1. Clin Immunol Immunopathol. 1995. PMID: 7554460 Review. No abstract available.
Around the V(D)J recombinase machinery.
de Villartay JP, Rieux-Laucat F, Fischer A. de Villartay JP, et al. Res Immunol. 1994 Feb;145(2):151-4; discussion 155-8. doi: 10.1016/s0923-2494(94)80030-8. Res Immunol. 1994. PMID: 8079049 Review. No abstract available.
168 results