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1

thérapie génique des déficits immunitaires

A. Fischer, S. Hacein-Bey, F. Le Deist, G. de Saint Basile, JP de Villartay, M. Cavazzana-Calvo

Journal:

Journal de Pédiatrie et de Puériculture

Year:

2002

File:

PDF, 1.00 MB

2002

2

Mechanisms and duration of non-tectonically assisted magma emplacement in the upper crust: The Black Mesa pluton, Henry Mountains, Utah

Michel de Saint-Blanquat, Guillaume Habert, Eric Horsman, Sven S. Morgan, Basil Tikoff, Patrick Launeau, Gérard Gleizes

Journal:

Year:

2006

Language:

english

File:

PDF, 5.00 MB

english, 2006

3

A non-XLA primary deficiency causes the earliest known defect of B cell differentiation in humans: a comparison with an XLA case

E Meffre, F LeDeist, G de Saint-Basile, A Deville, M Fougereau, A Fischer, C Schiff

Journal:

Immunology Letters

Year:

1997

Language:

english

File:

PDF, 209 KB

english, 1997

4

Emplacement of multiple magma sheets and wall rock deformation: Trachyte Mesa intrusion, Henry Mountains, Utah

Sven Morgan, Amy Stanik, Eric Horsman, Basil Tikoff, Michel de Saint Blanquat, Guillaume Habert

Journal:

Journal of Structural Geology

Year:

2008

Language:

english

File:

PDF, 3.66 MB

english, 2008

5

Multiscale magmatic cyclicity, duration of pluton construction, and the paradoxical relationship between tectonism and plutonism in continental arcs

Michel de Saint Blanquat, Eric Horsman, Guillaume Habert, Sven Morgan, Olivier Vanderhaeghe, Richard Law, Basil Tikoff

Journal:

Year:

2011

Language:

english

File:

PDF, 1.33 MB

english, 2011

6

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

J.L. Stephan, V. Vlekova, F. Le Deist, S. Blanche, J. Donadieu, G. De Saint-Basile, A. Durandy, C. Griscelli, A. Fischer

Journal:

The Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 1.15 MB

english, 1993

7

Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene

Geneviève de Saint Basile, Rémi Dufourcq Lagelouse, Nathalie Lambert, Klaus Schwarz, Bernard Le Mareck, Sylvie Odent, Nicole Schlegel, Alain Fischer

Journal:

The Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 2.16 MB

english, 1996

8

Hemophagocytic syndrome: primary forms and predisposing conditions

Sepulveda, Fernando E, de Saint Basile, Geneviève

Journal:

Current Opinion in Immunology

Year:

2017

Language:

english

File:

PDF, 506 KB

english, 2017

9

TTC7A mutation must be considered in patients with repeated intestinal atresia associated with early inflammatory bowel disease: Two new case reports and a literature review

Fayard, J., Collardeau, S., Bertrand, Y., Cordier, M.-P., Malcus, C., Dubois, R., Mure, P.-Y., de Saint Basile, G., Louazon, T., Rohmer, B., Lachaux, A., Duclaux, R., Peretti, N.

Journal:

Archives de Pédiatrie

Year:

2018

Language:

english

File:

PDF, 287 KB

english, 2018

10

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient

Bernard Aral, Geneviève de Saint Basile, Sami Al-Garawi, Pierre Kamoun, Irène Ceballos-Picot

Journal:

Year:

1996

Language:

english

File:

PDF, 685 KB

english, 1996

11

CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization

Geneviève de Saint Basile, Marie-Dominique Tabone, Anne Durandy, Florence Phan, Alain Fischer, Françoise Le Deist

Journal:

European Journal of Immunology

Year:

1999

Language:

english

File:

PDF, 118 KB

english, 1999

12

A familial occurrence of natural killer cell-T-lymphocyte proliferation disease in two children

Françoise Le Deist, Geneviève De Saint Basile, Clotilde Bremard, Claude Griscelli, Laure Coulombel, Jeanine Breton-Gorius, Micheline Maier-Redelsperger, Kheira Beljorde

Journal:

Year:

1991

Language:

english

File:

PDF, 811 KB

english, 1991

13

Signaling lymphocytic activation molecule (SLAM) regulates T cellular cytotoxicity

Golo Henning, Michael S. Kraft, Tobias Derfuss, Rainer Pirzer, Geneviève de Saint-Basile, Gregorio Aversa, Bernhard Fleckenstein, Edgar Meinl

Journal:

European Journal of Immunology

Year:

2001

Language:

english

File:

PDF, 192 KB

english, 2001

14

Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections

Enrico Bertini, Raffaella Cusmai, Genevieve de Saint Basile, Françoise Le Deist, Matteo Di Capua, Di Roberto Gaggero, Carlo Dionisi-Vici, Clemente Santillo, Maurizio Caniglia

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 632 KB

english, 1992

15

Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia

O. Journet, A. Durandy, M. Doussau, F. Le Deist, J. Couvreur, C. Griscelli, A. Fischer, G. de Saint-Basile

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 348 KB

english, 1992

16

Comment on Elejalde syndrome and relationship with Griscelli syndrome

Philippe Bahadoran, Jean-Paul Ortonne, Robert Ballotti, Geneviève de Saint-Basile

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 34 KB

english, 2003

17

Heterogeneity in the molecular defect leading to the leukocyte adhesion deficiency

Marie-Thérèse Dimanche-Boitrel, Anne Guyot, Geneviéve De Saint-Basile, Main Fischer, Claude Griscelli And, Barbara Lisowska-Grospierre

Journal:

European Journal of Immunology

Year:

1988

Language:

english

File:

PDF, 890 KB

english, 1988

18

Interleukin-2 (IL-2) receptor γ chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding

James P. Disanto, Stéphanie Certain, Alain Fischer, Geneviève De Saint Basile, Alice Dautry-Varsat

Journal:

European Journal of Immunology

Year:

1994

Language:

english

File:

PDF, 479 KB

english, 1994

19

The murine interleukin-2 receptor γ chain gene: Organization, chromosomal localization and expression in the adult thymus

James P. Disanto, Stéphanie Certain, Anne Wilson, H. Robson MacDonald, Phillip Avner, Alain Fischer, Geneviève de Saint Basile

Journal:

European Journal of Immunology

Year:

1994

Language:

english

File:

PDF, 498 KB

english, 1994

20

A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH)

Jana Pachlopnik Schmid, Chen-Hsuan Ho, Julien Diana, Gérard Pivert, Agnès Lehuen, Frédéric Geissmann, Alain Fischer, Geneviève de Saint Basile

Journal:

European Journal of Immunology

Year:

2008

Language:

english

File:

PDF, 385 KB

english, 2008

21

Neutralization of IFNγ defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice

Jana Pachlopnik Schmid, Chen-H. Ho, Fabrice Chrétien, Juliette M. Lefebvre, Gérard Pivert, Marie Kosco-Vilbois, Walter Ferlin, Frédéric Geissmann, Alain Fischer, Geneviève de Saint Basile

Journal:

EMBO Molecular Medicine

Year:

2009

Language:

english

File:

PDF, 1.29 MB

english, 2009

22

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

Luigi D. Notarangelo, Patrizia Mella, Alison Jones, Genevieve de Saint Basile, Gianfranco Savoldi, Treena Cranston, Mauno Vihinen, Richard Fabian Schumacher

Journal:

Year:

2001

Language:

english

File:

PDF, 407 KB

english, 2001

23

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency—including the first patients with mutations in the kinase domain

Patrizia Mella, Richard Fabian Schumacher, Treena Cranston, Genevieve de Saint Basile, Gianfranco Savoldi, Luigi D. Notarangelo

Journal:

Year:

2001

Language:

english

File:

PDF, 105 KB

english, 2001

24

X-linked immunodeficiencies: clues to genes involved in T- and B-cell differentiation

Geneviève de Saint Basile, Alain Fischer

Journal:

Immunology Today

Year:

1991

Language:

english

File:

PDF, 1.04 MB

english, 1991

25

Regulation of prostaglandin E2 (PGE2) and plasminogen activator by various immunodulators in human monocytes

F. Homo-Delarche, G. de Saint Basile, F. Le Deist, C. Griscelli, P. Smets

Journal:

International Journal of Immunopharmacology

Year:

1985

Language:

english

File:

PDF, 101 KB

english, 1985

26

Perforin: more than just an effector molecule

Susan E Stepp, Porunelloor A Mathew, Michael Bennett, Geneviève de Saint Basile, Vinay Kumar

Journal:

Immunology Today

Year:

2000

Language:

english

File:

PDF, 151 KB

english, 2000

27

Response to Moretta et al. and Arnaout

Susan Stepp, Porunelloor Mathew, Michael Bennett, Geneviève de Saint Basile, Vinay Kumar

Journal:

Immunology Today

Year:

2000

Language:

english

File:

PDF, 174 KB

english, 2000

28

CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome

Luigi D. Notarangelo, Manuel C. Peitsch, Tore G. Abrahamsen, Colette Bachelot, Pierre Bordigoni, Andrew J. Cant, Helen Chapel, Mauritio Clementi, Sarah Deacock, Geneviève de Saint Basile, Marzia Duse,

Journal:

Immunology Today

Year:

1996

Language:

english

File:

PDF, 865 KB

english, 1996

29

IL2RGbase: a database of γc-chain defects causing human X-SCID

Jennifer M. Puck, Geneviève de Saint Basile, Klaus Schwarz, Sebastian Fugmann, Roxanne E. Fischer

Journal:

Immunology Today

Year:

1996

Language:

english

File:

PDF, 829 KB

english, 1996

30

WASPbase: a database of WAS- and XLT-causing mutations

Klaus Schwarz, Shigeaki Nonoyama, Manuel C. Peitsch, Geneviève de Saint Basile, Teresa Espanol, Anders Fasth, Alain Fischer, Kristina Freitag, Wilhelm Friedrich, Sebastian Fugmann, Hans-Peter Hossle,

Journal:

Immunology Today

Year:

1996

Language:

english

File:

PDF, 1.13 MB

english, 1996

31

The role of cytotoxicity in lymphocyte homeostasis

Geneviève de Saint Basile, Alain Fischer

Journal:

Current Opinion in Immunology

Year:

2001

Language:

english

File:

PDF, 426 KB

english, 2001

32

Gene therapy of severe combined immunodeficiencies

Alain Fischer, Salima Hacein-Bey, Françoise Le Deist, Claire Soudais, James P. Di Santo, Geneviève De Saint Basile, Marina Cavazzana-Calvo

Journal:

Immunological Reviews

Year:

2000

Language:

english

File:

PDF, 214 KB

english, 2000

33

Cytophagic histiocytic panniculitis: is it a macrophage activation syndrome in situ?

B Bader-Meunier, S Fraitag, CEI Janssen, G de Saint Basile, K Brochard, N Brousse, C Bodemer, C Wouters

Journal:

Pediatric Rheumatology

Year:

2011

Language:

english

File:

PDF, 96 KB

english, 2011

34

Pediatric Hemophagocytic Syndromes: A Diagnostic and Therapeutic Challenge

Nada Jabado, Christine McCusker, Genevieve de Saint Basile

Journal:

Allergy, Asthma & Clinical Immunology

Year:

2005

Language:

english

File:

PDF, 598 KB

english, 2005

35

X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers

G. De Saint-Basile, N. Schlegel, M. Caniglia, F. Le Deist, C. Kaplan, T. Lecompte, F. Piller, A. Fischer, C. Griscelli

Journal:

Annals of Hematology

Year:

1991

Language:

english

File:

PDF, 486 KB

english, 1991

36

Founder effect for a 26-bp deletion in theRFXANKgene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B

W. Wiszniewski, M. -C. Fondaneche, N. Lambert, K. Masternak, C. Picard, L. Notarangelo, K. Schwarz, J. Bal, W. Reith, C. Alcaide, G. de Saint Basile, A. Fischer, B. Lisowska-Grospierre

Journal:

Year:

2000

Language:

english

File:

PDF, 175 KB

english, 2000

37

An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder)

Ozden Sanal, Leman Yel, Turkan Kucukali, Enid Gilbert-Barnes, Marc Tardieu, Ilhan Tezcan, Fugen Ersoy, Ayse Metin, Genevieve de Saint Basile

Journal:

Journal of Neurology

Year:

2000

Language:

english

File:

PDF, 3.06 MB

english, 2000

38

Genetic defects affecting lymphocyte cytotoxicity

Alain Fischer, Sylvain Latour, Geneviève de Saint Basile

Journal:

Current Opinion in Immunology

Year:

2007

Language:

english

File:

PDF, 189 KB

english, 2007

39

A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early pro-B cell stage

E. Meffre, F. LeDeist, G. de Saint-Basile, A. Deville, M. Fougereau, A. Fischer, C. Schiff

Journal:

Immunology Letters

Year:

1997

Language:

english

File:

PDF, 172 KB

english, 1997

40

Interleukin-7 receptor α (IL-7Rα) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients

Silvia Giliani, Luigi Mori, Geneviève De Saint Basile, Francoise Le Deist, Carmen Rodriguez-Perez, Concetta Forino, Evelina Mazzolari, Sophie Dupuis, Ronit Elhasid, Aharon Kessel, Claire Galambrun, Ju

Journal:

Immunological Reviews

Year:

2005

Language:

english

File:

PDF, 1.98 MB

english, 2005

41

Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis

Gael Ménasché, Jérôme Feldmann, Alain Fischer, Geneviève De Saint Basile

Journal:

Immunological Reviews

Year:

2005

Language:

english

File:

PDF, 2.11 MB

english, 2005

42

Severe combined immunodeficiency. A model disease for molecular immunology and therapy

Alain Fischer, Françoise Le Deist, Salima Hacein-Bey-Abina, Isabelle André-Schmutz, Geneviève De Saint Basile, Jean-Pierre De Villartay, Marina Cavazzana-Calvo

Journal:

Immunological Reviews

Year:

2005

Language:

english

File:

PDF, 836 KB

english, 2005

43

Inherited defects in lymphocyte cytotoxic activity

Jana P. Schmid, Marjorie Côte, Mickaël M. Ménager, Agathe Burgess, Nadine Nehme, Gaël Ménasché, Alain Fischer, Geneviève De Saint Basile

Journal:

Immunological Reviews

Year:

2010

Language:

english

File:

PDF, 417 KB

english, 2010

44

Transient familial haemophagocytic lymphohistiocytosis reactivation post-CD34 haematopoietic stem cell transplantation

H. Almousa, M. Ouachée-Chardin, C. Picard, I. Radford-Weiss, S. Caillat-Zucman, M. Cavazzana-Calvo, S. Blanche, G. de Saint Basile, F. Le Deist, A. Fischer

Journal:

British Journal of Haematology

Year:

2005

Language:

english

File:

PDF, 173 KB

english, 2005

45

Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID

Grace P. Yu, Kari C. Nadeau, David R. Berk, Geneviève de Saint Basile, Nathalie Lambert, Perrine Knapnougel, Joseph Roberts, Kristina Kavanau, Elizabeth Dunn, E. Richard Stiehm, David B. Lewis, Dale T

Journal:

Pediatric Transplantation

Year:

2011

Language:

english

File:

PDF, 113 KB

english, 2011

46

Molecular causes leading to defective melanosome transport in Griscelli syndrome

Geneviève De Saint Basile

Journal:

Experimental Dermatology

Year:

2006

Language:

english

File:

PDF, 441 KB

english, 2006

47

Inherited defects causing hemophagocytic lymphohistiocytic syndrome

Geneviève de Saint Basile, Gaël Ménasché, Sylvain Latour

Journal:

Annals of the New York Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 807 KB

english, 2011

48

CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM

DiSanto, J. P., Bonnefoy, J. Y., Gauchatt, J. F., Fischer, A., Saint Basile, G. de

Journal:

Year:

1993

File:

PDF, 357 KB

1993

49

10.1038/76024

de Saint Basile, Geneviève, Ménasché, Gaël, Pastural, Elodie, Feldmann, Jérôme, Certain, Stéphanie, Ersoy, Fügen, Dupuis, Sophie, Wulffraat, Nico, Bianchi, Diana, Fischer, Alain, Le Deist, Françoise

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 208 KB

english, 2000

50

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene

Pastural, Elodie, Barrat, Franck J., Dufourcq-Lagelouse, Rémi, Certain, Stéphanie, Sanal, Ozden, Jabado, Nada, Seger, Reinhard, Griscelli, Claude, Fischer, Alain, Basile, Geneviève de Saint

Journal:

Nature Genetics

Year:

1997

File:

PDF, 471 KB

1997

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