Stéphan JL - Search Results

1

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.

Buck D, Malivert L, de Chasseval R, Barraud A, Fondanèche MC, Sanal O, Plebani A, Stéphan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P. Buck D, et al. Among authors: stephan jl. Cell. 2006 Jan 27;124(2):287-99. doi: 10.1016/j.cell.2005.12.030. Cell. 2006. PMID: 16439204 Free article.

2

Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG.

Rigaud S, Lopez-Granados E, Sibéril S, Gloire G, Lambert N, Lenoir C, Synaeve C, Stacey M, Fugger L, Stephan JL, Fischer A, Picard C, Durandy A, Chapel H, Latour S. Rigaud S, et al. Among authors: stephan jl. Blood. 2011 Jul 14;118(2):252-61. doi: 10.1182/blood-2011-01-328849. Epub 2011 May 4. Blood. 2011. PMID: 21543760 Free article.

3

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, André-Schmutz I. Lagresle-Peyrou C, et al. Among authors: stephan jl. J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8. doi: 10.1016/j.jaci.2016.04.032. Epub 2016 Jun 4. J Allergy Clin Immunol. 2016. PMID: 27405666

4

A retrospective single-center study of clinical presentation and outcome in 117 patients with severe combined immunodeficiency.

Stephan JL, Vlekova V, Le Deist F, De Saint Basile G, Donadieu J, Durandy A, Blanche S, Griscelli C, Fischer A. Stephan JL, et al. Immunodeficiency. 1993;4(1-4):87-8. Immunodeficiency. 1993. PMID: 8167742 No abstract available.

5

Treatment of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins, steroids, and cyclosporin A.

Stéphan JL, Donadieu J, Ledeist F, Blanche S, Griscelli C, Fischer A. Stéphan JL, et al. Blood. 1993 Oct 15;82(8):2319-23. Blood. 1993. PMID: 8400285 Free article.

6

Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients.

Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, De Saint-Basile G, Durandy A, Griscelli C, Fischer A. Stephan JL, et al. J Pediatr. 1993 Oct;123(4):564-72. doi: 10.1016/s0022-3476(05)80951-5. J Pediatr. 1993. PMID: 8410508

7

Treatment of steroid-resistant acute graft-versus-host disease with an anti-IL-2-receptor monoclonal antibody (BT 563) in children who received T cell-depleted, partially matched, related bone marrow transplants.

Herbelin C, Stephan JL, Donadieu J, Le Deist F, Racadot E, Wijdenes J, Fischer A. Herbelin C, et al. Among authors: stephan jl. Bone Marrow Transplant. 1994 May;13(5):563-9. Bone Marrow Transplant. 1994. PMID: 8054909

8

Treatment of central nervous system B lymphoproliferative syndrome by local infusion of a B cell-specific monoclonal antibody.

Stephan JL, Le Deist F, Blanche S, Le Bidois J, Peuchmaur M, Lellouch-Tubiana A, Hirn M, Griscelli C, Fischer A. Stephan JL, et al. Transplantation. 1992 Aug;54(2):246-9. doi: 10.1097/00007890-199208000-00011. Transplantation. 1992. PMID: 1323149

9

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: stephan jl. 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.

10

Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.

Dufourcq-Lagelouse R, Jabado N, Le Deist F, Stéphan JL, Souillet G, Bruin M, Vilmer E, Schneider M, Janka G, Fischer A, de Saint Basile G. Dufourcq-Lagelouse R, et al. Among authors: stephan jl. Am J Hum Genet. 1999 Jan;64(1):172-9. doi: 10.1086/302194. Am J Hum Genet. 1999. PMID: 9915956 Free PMC article.

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