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Page 1
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachée-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Deist F, Fischer A, de Saint Basile G. Feldmann J, et al. Among authors: lambert n. Cell. 2003 Nov 14;115(4):461-73. doi: 10.1016/s0092-8674(03)00855-9. Cell. 2003. PMID: 14622600 Free article.
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).
Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, Kanegane H, Lopez-Granados E, Mejstrikova E, Pellier I, Galicier L, Galambrun C, Barlogis V, Bordigoni P, Fourmaintraux A, Hamidou M, Dabadie A, Le Deist F, Haerynck F, Ouachée-Chardin M, Rohrlich P, Stephan JL, Lenoir C, Rigaud S, Lambert N, Milili M, Schiff C, Chapel H, Picard C, de Saint Basile G, Blanche S, Fischer A, Latour S. Pachlopnik Schmid J, et al. Among authors: lambert n. Blood. 2011 Feb 3;117(5):1522-9. doi: 10.1182/blood-2010-07-298372. Epub 2010 Nov 30. Blood. 2011. PMID: 21119115 Free article.
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S. Rigaud S, et al. Among authors: lambert n. Nature. 2006 Nov 2;444(7115):110-4. doi: 10.1038/nature05257. Nature. 2006. PMID: 17080092
Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.
Hauck F, Randriamampita C, Martin E, Gerart S, Lambert N, Lim A, Soulier J, Maciorowski Z, Touzot F, Moshous D, Quartier P, Heritier S, Blanche S, Rieux-Laucat F, Brousse N, Callebaut I, Veillette A, Hivroz C, Fischer A, Latour S, Picard C. Hauck F, et al. Among authors: lambert n. J Allergy Clin Immunol. 2012 Nov;130(5):1144-1152.e11. doi: 10.1016/j.jaci.2012.07.029. Epub 2012 Sep 15. J Allergy Clin Immunol. 2012. PMID: 22985903
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.
Le Guen T, Touzot F, André-Schmutz I, Lagresle-Peyrou C, France B, Kermasson L, Lambert N, Picard C, Nitschke P, Carpentier W, Bole-Feysot C, Lim A, Cavazzana M, Callebaut I, Soulier J, Jabado N, Fischer A, de Villartay JP, Revy P. Le Guen T, et al. Among authors: lambert n. J Allergy Clin Immunol. 2015 Dec;136(6):1619-1626.e5. doi: 10.1016/j.jaci.2015.06.008. Epub 2015 Jul 26. J Allergy Clin Immunol. 2015. PMID: 26220525
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B.
Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, Lisowska-Grospierre B. Wiszniewski W, et al. Among authors: lambert n. Immunogenetics. 2000 Apr;51(4-5):261-7. doi: 10.1007/s002510050619. Immunogenetics. 2000. PMID: 10803838
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.
El-Daher MT, Lemale J, Bruneau J, Leveau C, Guerin F, Lambert N, Diana JS, Neven B, Sepulveda FE, Coulomb-L'Hermine A, Molina T, Picard C, Fischer A, de Saint Basile G. El-Daher MT, et al. Among authors: lambert n. Front Immunol. 2019 Nov 7;10:2592. doi: 10.3389/fimmu.2019.02592. eCollection 2019. Front Immunol. 2019. PMID: 31787977 Free PMC article.
578 results