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Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties.
Descatoire M, Weller S, Irtan S, Sarnacki S, Feuillard J, Storck S, Guiochon-Mantel A, Bouligand J, Morali A, Cohen J, Jacquemin E, Iascone M, Bole-Feysot C, Cagnard N, Weill JC, Reynaud CA. Descatoire M, et al. J Exp Med. 2014 May 5;211(5):987-1000. doi: 10.1084/jem.20132203. Epub 2014 Apr 14. J Exp Med. 2014. PMID: 24733829 Free PMC article.
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. 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.
B cell depletion in immune thrombocytopenia reveals splenic long-lived plasma cells.
Mahévas M, Patin P, Huetz F, Descatoire M, Cagnard N, Bole-Feysot C, Le Gallou S, Khellaf M, Fain O, Boutboul D, Galicier L, Ebbo M, Lambotte O, Hamidou M, Bierling P, Godeau B, Michel M, Weill JC, Reynaud CA. Mahévas M, et al. J Clin Invest. 2013 Jan;123(1):432-42. doi: 10.1172/JCI65689. Epub 2012 Dec 17. J Clin Invest. 2013. PMID: 23241960 Free PMC article. Clinical Trial.
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency.
Lemoine R, Pachlopnik-Schmid J, Farin HF, Bigorgne A, Debré M, Sepulveda F, Héritier S, Lemale J, Talbotec C, Rieux-Laucat F, Ruemmele F, Morali A, Cathebras P, Nitschke P, Bole-Feysot C, Blanche S, Brousse N, Picard C, Clevers H, Fischer A, de Saint Basile G. Lemoine R, et al. J Allergy Clin Immunol. 2014 Dec;134(6):1354-1364.e6. doi: 10.1016/j.jaci.2014.07.019. Epub 2014 Aug 28. J Allergy Clin Immunol. 2014. PMID: 25174867
Klhl6 Deficiency Impairs Transitional B Cell Survival and Differentiation.
Bertocci B, Lecoeuche D, Sterlin D, Kühn J, Gaillard B, De Smet A, Lembo F, Bole-Feysot C, Cagnard N, Fadeev T, Dahan A, Weill JC, Reynaud CA. Bertocci B, et al. J Immunol. 2017 Oct 1;199(7):2408-2420. doi: 10.4049/jimmunol.1700708. Epub 2017 Aug 14. J Immunol. 2017. PMID: 28807996
A wave of deep intronic mutations in X-linked Alport syndrome.
Boisson M, Arrondel C, Cagnard N, Morinière V, Arkoub ZA, Saei H, Heidet L, Kachmar J, Hummel A, Knebelmann B, Bonnet-Dupeyron MN, Isidor B, Izzedine H, Legrand E, Couarch P, Gribouval O, Bole-Feysot C, Parisot M, Nitschké P, Antignac C, Dorval G. Boisson M, et al. Kidney Int. 2023 Aug;104(2):367-377. doi: 10.1016/j.kint.2023.05.006. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230224 Free article.
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T. Putoux A, et al. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552264 Free PMC article.
175 results