G de Saint Basile: search on Z-Library

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1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

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

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

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

11

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

12

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

13

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

14

Griscelli Syndrome Type 2: A Rare and Lethal Disorder

Masri, A., Bakri, F. G., Al-Hussaini, M., Al-Hadidy, A., Hirzallah, R., de Saint Basile, G., Hamamy, H.

Journal:

Journal of Child Neurology

Year:

2008

Language:

english

File:

PDF, 193 KB

english, 2008

15

Rab27A and Its Effector MyRIP Link Secretory Granules to F-Actin and Control Their Motion Towards Release Sites

Claire Desnos, Jean-Sébastien Schonn, Sébastien Huet, Viet Samuel Tran, Aziz El-Amraoui, Graça Raposo, Isabelle Fanget, Catherine Chapuis, Gaël Ménasché, Geneviève de Saint Basile , Christine Petit, S

Journal:

The Journal of Cell Biology

Year:

2003

Language:

english

File:

PDF, 2.67 MB

english, 2003

16

Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2–Deficient Intestinal Organoids

Mosa, Mohammed H., Nicolle, Ophélie, Maschalidi, Sophia, Sepulveda, Fernando E., Bidaud-Meynard, Aurelien, Menche, Constantin, Michels, Birgitta E., Michaux, Grégoire, de Saint Basile, Geneviève, Fari

Journal:

CMGH Cellular and Molecular Gastroenterology and Hepatology

Year:

2018

Language:

english

File:

PDF, 8.84 MB

english, 2018

17

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

18

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

19

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

20

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

21

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

22

Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes

Mateo, V., Menager, M., de Saint-Basile, G., Stolzenberg, M.-C., Roquelaure, B., Andre, N., Florkin, B., le Deist, F., Picard, C., Fischer, A., Rieux-Laucat, F.

Journal:

Year:

2007

Language:

english

File:

PDF, 857 KB

english, 2007

23

Familial haemophagocytosis lymphohisticytosis type 3: A case report

Kamoun, F., Hsairi, M., Grandin, V., Ben Ameur, S., De Saint Basile, G., Hachicha, M.

Journal:

Archives de Pédiatrie

Year:

2017

Language:

english

File:

PDF, 181 KB

english, 2017

24

Données d’efficacité et de toxicité des immunothérapies anti cancéreuses chez le sujet âgé – 5e journée de pharmacologie des anti-tumoraux

Gaultier De Saint Basile, Hortense, Poisson, Caroline, Arrondeau, Jennifer, Boudou-Rouquette, Pascaline, Goldwasser, François, Tartour, Eric, De Guillebon, Eléonore

Journal:

Bulletin du Cancer

Year:

2018

File:

PDF, 821 KB

2018

25

Enhanced plasminogen-activator production by leukocytes in the human and murine Chediak-Higashi syndrome

de Saint Basile, G, Fischer, A, Dautzenberg, MD, Durandy, A, Le Deist, F, Angles- Cano, E, Griscelli, C

Journal:

Year:

1985

File:

PDF, 1.16 MB

1985

26

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

27

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

28

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

29

Synaptic Release of CCL5 Storage Vesicles Triggers CXCR4 Surface Expression Promoting CTL Migration in Response to CXCL12

Franciszkiewicz, K., Boutet, M., Gauthier, L., Vergnon, I., Peeters, K., Duc, O., Besse, B., de Saint Basile, G., Chouaib, S., Mami-Chouaib, F.

Journal:

The Journal of Immunology

Year:

2014

Language:

english

File:

PDF, 1.74 MB

english, 2014

30

Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations

Elsayed, Solaf, Elsobky, Ezzat, Tantawy, Azza, Ragab, Eman, Gil, Marine, Lambert, Nathalie, de Saint Basile, Geneviève

Journal:

Egyptian Journal of Medical Human Genetics

Year:

2015

Language:

english

File:

PDF, 427 KB

english, 2015

31

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

Nehme, N. T., Schmid, J. P., Debeurme, F., Andre-Schmutz, I., Lim, A., Nitschke, P., Rieux-Laucat, F., Lutz, P., Picard, C., Mahlaoui, N., Fischer, A., de Saint Basile, G.

Journal:

Year:

2012

Language:

english

File:

PDF, 1.41 MB

english, 2012

32

682. Correction of CTLs Cytotoxic Function Defect by SIN-lentiviral Mediated Expression of Munc13-4 in Type 3 Familial Hemophagocytic Lymphohistiocytosis

Soheili, Tayebeh-Shabi, Ricciardelli, Ida, Riviere, Julie, Durand, Amandine, Verhoeyen, Els, Lagresle, Chantal, Basile, Geneviève de Saint, Amrolia, Persis, André-Schmutz, Isabelle, Cavazzana, Marina

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 299 KB

english, 2016

33

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

34

Genetic basis of hemophagocytic lymphohistiocytosis syndrome (Review).

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

Journal:

International Journal of Molecular Medicine

Year:

1999

Language:

english

File:

PDF, 2.13 MB

english, 1999

35

Kinesin-1 controls mast cell degranulation and anaphylaxis through PI3K-dependent recruitment to the granular Slp3/Rab27b complex

Munoz, Isabelle, Danelli, Luca, Claver, Julien, Goudin, Nicolas, Kurowska, Mathieu, Madera-Salcedo, Iris Karina, Huang, Jian-Dong, Fischer, Alain, González-Espinosa, Claudia, de Saint Basile, Geneviév

Journal:

The Journal of Cell Biology

Year:

2016

Language:

english

File:

PDF, 2.85 MB

english, 2016

36

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

37

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

38

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

39

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

40

Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency

Soheili, Tayebeh, Durand, Amandine, Sepulveda, Fernando E., RiviÃ¨re, Julie, Lagresle-Peyrou, Chantal, Sadek, Hanem, de Saint Basile, GeneviÃ¨ve, Martin, Samia, Mavilio, Fulvio, Cavazzana, Marina, And

Journal:

Year:

2017

File:

PDF, 1.58 MB

2017

41

Role of interleukin-2 (IL-2), IL-7, and IL-15 in natural killer cell differentiation from cord blood hematopoietic progenitor cells and from gamma c transduced severe combined immunodeficiency X1 bone marrow cells

Cavazzana-Calvo, M, Hacein-Bey, S, de Saint Basile, G, De Coene, C, Selz, F, Le Deist, F, Fischer, A

Journal:

Year:

1996

File:

PDF, 3.53 MB

1996

42

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

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

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

45

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

46

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

47

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

48

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

49

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

50

Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase

Vořechovský, Igor, Luo, Liping, de Saint Basile, Geneviève, Hammarström, Lennart, Webster, A.David B., Smith, C.I.Edvard

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.84 MB

english, 1995

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