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Requirement for XLF/Cernunnos in alignment-based gap filling by DNA polymerases lambda and mu for nonhomologous end joining in human whole-cell extracts.
Akopiants K, Zhou RZ, Mohapatra S, Valerie K, Lees-Miller SP, Lee KJ, Chen DJ, Revy P, de Villartay JP, Povirk LF. Akopiants K, et al. Among authors: de villartay jp. Nucleic Acids Res. 2009 Jul;37(12):4055-62. doi: 10.1093/nar/gkp283. Epub 2009 May 6. Nucleic Acids Res. 2009. PMID: 19420065 Free PMC article.
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.
Touzot F, Gaillard L, Vasquez N, Le Guen T, Bertrand Y, Bourhis J, Leblanc T, Fischer A, Soulier J, de Villartay JP, Revy P. Touzot F, et al. Among authors: de villartay jp. J Allergy Clin Immunol. 2012 Feb;129(2):473-82, 482.e1-3. doi: 10.1016/j.jaci.2011.09.043. Epub 2011 Nov 10. J Allergy Clin Immunol. 2012. PMID: 22078571
[Dyskeratosis congenita: short telomeres are not the rule].
Touzot F, Le Guen T, de Villartay JP, Revy P. Touzot F, et al. Among authors: de villartay jp. Med Sci (Paris). 2012 Jun-Jul;28(6-7):618-24. doi: 10.1051/medsci/2012286015. Epub 2012 Jul 16. Med Sci (Paris). 2012. PMID: 22805138 Free article. Review. French.
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.
Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Pïcard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P. Mokrani-Benhelli H, et al. Among authors: de villartay jp. Hum Mutat. 2013 Feb;34(2):374-84. doi: 10.1002/humu.22245. Epub 2012 Dec 20. Hum Mutat. 2013. PMID: 23111928
168 results