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51

Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4

Ménager, Mickaël M, Ménasché, Gaël, Romao, Maryse, Knapnougel, Perrine, Ho, Chen-Hsuan, Garfa, Mériem, Raposo, Graça, Feldmann, Jérôme, Fischer, Alain, de Saint Basile, Geneviève

Journal:

Nature Immunology

Year:

2007

Language:

english

File:

PDF, 592 KB

english, 2007

52

Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules

de Saint Basile, Geneviève, Ménasché, Gaël, Fischer, Alain

Journal:

Nature Reviews Immunology

Year:

2010

Language:

english

File:

PDF, 831 KB

english, 2010

53

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

Dufourcq-Lagelouse, Rémi, Lambert, Nathalie, Duval, Michel, Viot, Géraldine, Vilmer, Etienne, Fischer, Alain, Prieur, Marguerite, de Saint Basile, Geneviève

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 194 KB

english, 1999

54

Griscelli Disease: Genotype–Phenotype Correlation in an Array of Clinical Heterogeneity

Ozden Sanal, Fúgen Ersoy, Ilhan Tezcan, Ayşe Metin, Leman Yel, Gaël Ménasché, Aytemiz Gürgey, Izzet Berkel, Geneviève de Saint Basile

Journal:

Journal of Clinical Immunology

Year:

2002

Language:

english

File:

PDF, 40 KB

english, 2002

55

Griscelli Syndrome: Characterization of a New Mutation and Rescue of T-Cytotoxic Activity by Retroviral Transfer ofRAB27AGene

João C. S. Bizario, Jérôme Feldmann, Fabíola A. Castro, Gaël Ménasché, Cristina M. A. Jacob, L. Cristofani, Erasmo B. Casella, Júlio C. Voltarelli, Geneviève de Saint-Basile, Enilza M. Espreafico

Journal:

Journal of Clinical Immunology

Year:

2004

Language:

english

File:

PDF, 1.87 MB

english, 2004

56

Regulation of prostaglandin E2 and plasminogen activator by various immunomodulators in human monocytes

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

Journal:

Prostaglandins, Leukotrienes and Medicine

Year:

1986

Language:

english

File:

PDF, 1.21 MB

english, 1986

57

An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma

B. Hervier, S. Latour, D. Loussouarn, M. Rimbert, G De-Saint-Basile, C. Picard, M. Hamidou

Journal:

Journal of Neuroimmunology

Year:

2010

Language:

english

File:

PDF, 516 KB

english, 2010

58

Genetic studies in severe combined immunodeficiency

G. de Saint Basile, J.P. di Santo, Alain Fischer

Journal:

Clinical Immunology and Immunopathology

Year:

1995

Language:

english

File:

PDF, 343 KB

english, 1995

59

Translation and the resolution of the pluton space problem

Basil Tikoff, Michel de Saint Blanquat, Christian Teyssier

Journal:

Journal of Structural Geology

Year:

1999

Language:

english

File:

PDF, 250 KB

english, 1999

60

Detection of Three Nonsense Mutations and One Missense Mutation in the Interleukin-2 Receptor γ Chain Gene in SCIDX1 That Differently Affect the mRNA Processing

Sophie Markiewicz, Agathe Subtil, Alice Dautry-Varsat, Alain Fischer, Geneviève de Saint Basile

Journal:

Year:

1994

File:

PDF, 250 KB

1994

61

Localization of the Rab Escort Protein-2 (REP2) and Inositol 1,4,5-Trisphosphate 3-Kinase (ITPKB) Genes to Mouse Chromosome 1 byin SituHybridization and Precision of the Syntenic Regions between Mouse and Human 1q42–q44

Franck J. Barrat, Danielle Depetris, Stéphanie Certain, Marie-Geneviève Mattei, Geneviève de Saint Basile

Journal:

Year:

1997

Language:

english

File:

PDF, 76 KB

english, 1997

62

Two Genes Are Responsible for Griscelli Syndrome at the Same 15q21 Locus

Elodie Pastural, Fügen Ersoy, Nevin Yalman, Nico Wulffraat, Eugênio Grillo, Ferda Ozkinay, Ilhan Tezcan, G. Gediköglu, Noël Philippe, Alain Fischer, Geneviève de Saint Basile

Journal:

Year:

2000

Language:

english

File:

PDF, 116 KB

english, 2000

63

Thérapie génique des déficits immunitaires héréditaires

A Fischer, G de Saint-Basile, JP Disanto, S Hacein-Bey, L Sharara, M Cavazzana-Calvo

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 651 KB

1996

64

Detection of 28 novel mutations in the Wiskott–Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR

Alexis Proust, Benoît Guillet, Capucine Picard, Geneviève de Saint Basile, Corinne Pondarré, Hannah Tamary, Marie Dreyfus, Gil Tchernia, Alain Fischer, Jean Delaunay

Journal:

Blood Cells, Molecules, and Diseases

Year:

2007

Language:

english

File:

PDF, 201 KB

english, 2007

65

Long-term survival in severe combined immune deficiency: The role of persistent maternal engraftment

Ilhan Tezcan, Fugen Ersoy, Ozden Sanal, Tuba Turul, Duygu Uckan, Sevim Balci, Gonul Hicsonmez, M. Prieur, S. Caillat-Zucmann, Francois Le Deist, Genevieve de Saint Basile

Journal:

The Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 90 KB

english, 2005

66

Omenn syndrome in an infant with IL7RA gene mutation

Silvia Giliani, Carmen Bonfim, Genevieve de Saint Basile, Gaetana Lanzi, Nicole Brousse, Adriana Koliski, Mariester Malvezzi, Alain Fischer, Luigi D. Notarangelo, Francoise Le Deist

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 195 KB

english, 2006

67

Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation

Susan Molleran Lee, Janos Sumegi, Joyce Villanueva, Yasuhiro Tabata, Kejian Zhang, Ranajit Chakraborty, Xiaohua Sheng, Rita Clementi, Genevieve de Saint Basile, Alexandra H. Filipovich

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 154 KB

english, 2006

68

Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common γc cytokine receptor subunit or JAK-3 deficiency

Caroline Laffort, Françoise Le Deist, Michel Favre, Sophie Caillat-Zucman, Isabelle Radford-Weiss, Marianne Debré, Sylvie Fraitag, Stéphane Blanche, Marina Cavazzana-Calvo, Geneviève de Saint Basile,

Journal:

Year:

2004

Language:

english

File:

PDF, 94 KB

english, 2004

69

Gene therapy of primary immunodeficiencies

A. Fischer, M. Cavazzana-Calvo, G. de Saint-Basile, J.-P. Di Santo, S. Hacein-Bey, C. Soudais

Journal:

Molecular Immunology

Year:

1998

File:

PDF, 234 KB

1998

70

Report of the ESID collaborative study on clinical features and molecular analysis in X-linked hyper-IgM syndrome

L.D. Notarangelo, S. Giliani, A. Jones, G. de Saint Basile, M. Fiorini, P. Toniati, P. Mella, M. Vihinen

Journal:

Molecular Immunology

Year:

1998

File:

PDF, 258 KB

1998

71

Chediak-Higashi and Griscelli syndromes: Genetic defects in secretory lysosomes trafficking associated with uncontrolled T lymphocyte and macrophage activation

Franck Barrat, Alain Fischer, Geneviève de Saint Basile

Journal:

Molecular Immunology

Year:

1998

File:

PDF, 266 KB

1998

72

Report of the ESID collaborative study on clinical features and molecular analysis in X-linked hyper-IgM syndrome

L.D. Notarangelo, S. Giliani, A. Jones, G. de Saint Basile, M. Fiorini, P. Toniati, P. Mella, M. Vihinen

Journal:

Molecular Immunology

Year:

1998

File:

PDF, 249 KB

1998

73

Albinisme partiel et déficit immunitaire: caractérisation génique des syndromes de Chédiak-Higashi et de Griscelli

E Pastural, F Barrat, R Dufourcq-Lagelouse, A Fischer, G De Saint-Basil e

Journal:

Archives de Pédiatrie

Year:

1998

File:

PDF, 148 KB

1998

74

Défauts génétiques du contrôle de l'activation T évoluant vers un syndrome d'activation lymphohistiocytaire

R. Dufourcq-Lagelouse, E. Pastural, F.J. Barrat, F. Le Deist, A. Fischer, G. de Saint Basile

Journal:

Archives de Pédiatrie

Year:

1999

File:

PDF, 250 KB

1999

75

Gene Therapy for Human Severe Combined Immunodeficiencies

Alain Fischer, Salima Hacein-Bey, Françoise Le Deist, Geneviève de Saint Basile, Marina Cavazzana-Calvo

Journal:

Year:

2001

Language:

english

File:

PDF, 101 KB

english, 2001

76

Thérapie génique des déficits immunitaires combinés sévères

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

Journal:

Transfusion Clinique et Biologique

Year:

2000

File:

PDF, 92 KB

2000

77

O3-8 Étude de la conservation du potentiel lymphoïde après transfert de gène dans les cellules hématopotétiques humaines CD34+

M Cavazzana-Calvo, F Gross, P Neusbaum, S Hacein-Bey, C DeCoene, G de Saint Basile, A Fischer

Journal:

Transfusion Clinique et Biologique

Year:

1998

File:

PDF, 217 KB

1998

78

Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity

Rémi Dufourcq-Lagelouse, Nada Jabado, Françoise Le Deist, Jean-Louis Stéphan, Gérard Souillet, Marrie Bruin, Etienne Vilmer, Marion Schneider, Gritta Janka, Alain Fischer, Geneviève de Saint Basile

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.44 MB

english, 1999

79

Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes

Jérôme Feldmann, Anne-Marie Prieur, Pierre Quartier, Patrick Berquin, Stéphanie Certain, Elisabetta Cortis, Dominique Teillac-Hamel, Alain Fischer, Geneviève de Saint Basile

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 220 KB

english, 2002

80

Griscelli Syndrome Types 1 and 2

Gaël Ménasché, Alain Fischer, Geneviève de Saint Basile

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 52 KB

english, 2002

81

Chédiak-Higashi and Griscelli syndromes

Geneviève de Saint Basile

Journal:

Immunology and Allergy Clinics of North America

Year:

2002

Language:

english

File:

PDF, 144 KB

english, 2002

82

Severe combined immunodeficiency with quantitatively normal but abnormally differentiated T lymphocytes

A. Fischer, A. Durandy, J.L. Virelizier, G. De Saint Basile, A. Lagrue, E. Reinherz, S. Schlossman, C. Griscelli

Journal:

The Journal of Pediatrics

Year:

1981

Language:

english

File:

PDF, 344 KB

english, 1981

83

Primary membrane T cell immunodeficiencies

Françoise Le Deist, Geneviève de Saint Basile, Fabienne Mazerolles, Gabriela Thoenes, Jean-Pierre De Villartay, Nadine Cerf-Bensussan, Barbara Lisowska-Grospierre, Claude Griscelli, Alain Fischer

Journal:

Clinical Immunology and Immunopathology

Year:

1991

Language:

english

File:

PDF, 323 KB

english, 1991

84

Transpressional shearing and strike-slip partitioning in the Late Cretaceous Sierra Nevada magmatic arc, California

Tikoff, Basil, de Saint Blanquat, Michel

Journal:

Year:

1997

Language:

english

File:

PDF, 2.54 MB

english, 1997

85

Emplacement and assembly of shallow intrusions from multiple magma pulses, Henry Mountains, Utah

Horsman, Eric, Morgan, Sven, de Saint-Blanquat, Michel, Habert, Guillaume, Nugent, Andrew, Hunter, Robert A., Tikoff, Basil

Journal:

Earth and Environmental Science Transactions of the Royal Society of Edinburgh

Year:

2009

Language:

english

File:

PDF, 1.74 MB

english, 2009

86

Functional common gamma chain is not required for mast cell proliferation and survival

H Chapdelaine, D Canioni, G De Saint-Basile…

Journal:

Allergy, Asthma & Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 79 KB

english, 2012

87

Persistence of natural killer cells with expansion of a hypofunctional CD56−CD16+KIR+NKG2C+ subset in a patient with atypical Janus kinase 3–deficient severe combined immunodeficiency

Farnault, Laure, Chambost, Hervé, Michel, Gérard, Thuret, Isabelle, de Saint Basile, Geneviève, Fischer, Alain, Picard, Capucine, Picard, Christophe, Orlanducci, Florence, Farnarier, Catherine, Morett

Journal:

Journal of Allergy and Clinical Immunology

Year:

2013

Language:

english

File:

PDF, 548 KB

english, 2013

88

Immune response to Toxoplasma gondii in man I. — Common idiotypic determinants of toxoplasma-specific human antibodies

de Saint-Basile, G, Lisowska-Grospierre, B, Griscelli, C

Journal:

Annales de l'Institut Pasteur / Immunologie

Year:

1981

Language:

english

File:

PDF, 1.17 MB

english, 1981

89

Antibody levels to Candida albicans carbohydrate and major cytoplasmic antigens isolated from standard and patient strains

Karwowska, W., de Saint Basile, G., Lisowska-Grospierre, B.

Journal:

Annales de l'Institut Pasteur / Immunologie

Year:

1984

Language:

english

File:

PDF, 789 KB

english, 1984

90

Hyper-IgM syndrome

Santo, J.P. Di, Basile, G. de Saint, Durandy, A., Fischer, A.

Journal:

Research in Immunology

Year:

1994

Language:

english

File:

PDF, 530 KB

english, 1994

91

Close Linkage of the Locus for X Chromosome-Linked Severe Combined Immunodeficiency to Polymorphic DNA Markers in Xq11-q13

G. de Saint Basile, B. Arveiler, I. Oberlé, S. Malcolm, R. J. Levinsky, Y. L. Lau, M. Hofker, M. Debre, A. Fischer, C. Griscelli and J. L. Mandel

Journal:

Proceedings of the National Academy of Sciences

Year:

1987

Language:

english

File:

PDF, 722 KB

english, 1987

92

Defective CTLA-4 Cycling Pathway in Chediak-Higashi Syndrome: A Possible Mechanism for Deregulation of T Lymphocyte Activation

Franck J. Barrat, Françoise Le Deist, Malika Benkerrou, Philippe Bousso, Jérome Feldmann, Alain Fischer and Geneviève de Saint Basile

Journal:

Proceedings of the National Academy of Sciences

Year:

1999

Language:

english

File:

PDF, 1.39 MB

english, 1999

93

Deficient Peptide Loading and MHC Class II Endosomal Sorting in a Human Genetic Immunodeficiency Disease: The Chediak-Higashi Syndrome

Wolfgang Faigle, Graça Raposo, Daniele Tenza, Valérie Pinet, Anne B. Vogt, Harald Kropshofer, Alain Fischer, Geneviève de Saint-Basile and Sebastian Amigorena

Journal:

The Journal of Cell Biology

Year:

1998

Language:

english

File:

PDF, 4.99 MB

english, 1998

94

Syndromes d’activation lymphohistiocytaire constitutionnels

Moshous, D., Cros, G., Héritier, S., Chomton, M., Neven, B., Picard, C., de Saint Basile, G., Fischer, A., Blanche, S.

Journal:

Revue d'Oncologie Hématologie Pédiatrique

Year:

2013

Language:

french

File:

PDF, 917 KB

french, 2013

95

Motor neuronopathy in Chediak–Higashi syndrome

Mathis, S., Cintas, P., de Saint-Basile, G., Magy, L., Funalot, B., Vallat, J.-M.

Journal:

Journal of the Neurological Sciences

Year:

2014

Language:

english

File:

PDF, 513 KB

english, 2014

96

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

VoRechovsky, I., Vihinen, M., de Saint Basile, G., Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L., Fischer, A., Smith, C.I.E.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.94 MB

english, 1995

97

Prenatal Diagnosis of X-Linked Hyper-IgM Syndrome

DiSanto, James P., Markiewicz, Sophie, Gauchat, Jean-Francois, Bonnefoy, Jean-Yves, Fischer, Alain, de Saint Basile, Genevieve

Journal:

Boston Medical and Surgical Journal

Year:

1994

Language:

english

File:

PDF, 7.00 MB

english, 1994

98

First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases

Markert, M. L., Marques, J. G., Neven, B., Devlin, B. H., McCarthy, E. A., Chinn, I. K., Albuquerque, A. S., Silva, S. L., Pignata, C., de Saint Basile, G., Victorino, R. M., Picard, C., Debre, M., Ma

Journal:

Year:

2011

Language:

english

File:

PDF, 1004 KB

english, 2011

99

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Vogt, G., Bustamante, J., Chapgier, A., Feinberg, J., Boisson Dupuis, S., Picard, C., Mahlaoui, N., Gineau, L., Alcais, A., Lamaze, C., Puck, J. M., de Saint Basile, G., Khayat, C. D., Mikhael, R., Ca

Journal:

Journal of Experimental Medicine

Year:

2008

Language:

english

File:

PDF, 2.26 MB

english, 2008

100

Patients with T +/low NK + IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency

Fuchs, Sebastian, Rensing-Ehl, Anne, Erlacher, Miriam, Vraetz, Thomas, Hartjes, Lara, Janda, Ales, Rizzi, Marta, Lorenz, Myriam R., Gilmour, Kimberly, de Saint-Basile, Geneviève, Roifman, Chaim M., Ch

Journal:

European Journal of Immunology

Year:

2014

Language:

english

File:

PDF, 1.93 MB

english, 2014