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Page 1
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.
Enervald E, Du L, Visnes T, Björkman A, Lindgren E, Wincent J, Borck G, Colleaux L, Cormier-Daire V, van Gent DC, Pie J, Puisac B, de Miranda NF, Kracker S, Hammarström L, de Villartay JP, Durandy A, Schoumans J, Ström L, Pan-Hammarström Q. Enervald E, et al. Among authors: de miranda nf, de villartay jp. J Exp Med. 2013 Nov 18;210(12):2503-13. doi: 10.1084/jem.20130168. Epub 2013 Oct 21. J Exp Med. 2013. PMID: 24145515 Free PMC article.
Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis.
Du L, Peng R, Björkman A, Filipe de Miranda N, Rosner C, Kotnis A, Berglund M, Liu C, Rosenquist R, Enblad G, Sundström C, Hojjat-Farsangi M, Rabbani H, Teixeira MR, Revy P, Durandy A, Zeng Y, Gennery AR, de Villartay JP, Pan-Hammarström Q. Du L, et al. Among authors: de villartay jp. J Exp Med. 2012 Feb 13;209(2):291-305. doi: 10.1084/jem.20110325. Epub 2012 Feb 6. J Exp Med. 2012. PMID: 22312109 Free PMC article.
A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair.
Péron S, Pan-Hammarström Q, Imai K, Du L, Taubenheim N, Sanal O, Marodi L, Bergelin-Besançon A, Benkerrou M, de Villartay JP, Fischer A, Revy P, Durandy A. Péron S, et al. Among authors: de villartay jp. J Exp Med. 2007 May 14;204(5):1207-16. doi: 10.1084/jem.20070087. Epub 2007 May 7. J Exp Med. 2007. PMID: 17485519 Free PMC article.
Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.
Björkman A, Du L, van der Burg M, Cormier-Daire V, Borck G, Pié J, Anderlid BM, Hammarström L, Ström L, de Villartay JP, Kipling D, Dunn Walters D, Pan-Hammarström Q. Björkman A, et al. Among authors: de villartay jp. J Allergy Clin Immunol. 2018 Jan;141(1):408-411.e8. doi: 10.1016/j.jaci.2017.06.043. Epub 2017 Aug 5. J Allergy Clin Immunol. 2018. PMID: 28826797 Free article. No abstract available.
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debré M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G. Pachlopnik Schmid J, et al. Among authors: de villartay jp, de saint basile g. J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10. J Exp Med. 2012. PMID: 23230001 Free PMC article.
Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination.
Soulas-Sprauel P, Le Guyader G, Rivera-Munoz P, Abramowski V, Olivier-Martin C, Goujet-Zalc C, Charneau P, de Villartay JP. Soulas-Sprauel P, et al. Among authors: de villartay jp. J Exp Med. 2007 Jul 9;204(7):1717-27. doi: 10.1084/jem.20070255. Epub 2007 Jul 2. J Exp Med. 2007. PMID: 17606631 Free PMC 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.
V(D)J recombination deficiencies.
de Villartay JP. de Villartay JP. Adv Exp Med Biol. 2009;650:46-58. doi: 10.1007/978-1-4419-0296-2_4. Adv Exp Med Biol. 2009. PMID: 19731800 Review.
168 results