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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: nehme n. 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.
Inherited defects in lymphocyte cytotoxic activity.
Pachlopnik Schmid J, Côte M, Ménager MM, Burgess A, Nehme N, Ménasché G, Fischer A, de Saint Basile G. Pachlopnik Schmid J, et al. Among authors: nehme n. Immunol Rev. 2010 May;235(1):10-23. doi: 10.1111/j.0105-2896.2010.00890.x. Immunol Rev. 2010. PMID: 20536552 Review.
Genome-wide RNAi screen identifies genes involved in intestinal pathogenic bacterial infection.
Cronin SJ, Nehme NT, Limmer S, Liegeois S, Pospisilik JA, Schramek D, Leibbrandt A, Simoes Rde M, Gruber S, Puc U, Ebersberger I, Zoranovic T, Neely GG, von Haeseler A, Ferrandon D, Penninger JM. Cronin SJ, et al. Science. 2009 Jul 17;325(5938):340-3. doi: 10.1126/science.1173164. Epub 2009 Jun 11. Science. 2009. PMID: 19520911 Free PMC article.
44 results