Ichthyosis as the dermatological phenotype associated with TTC7A mutations
Leclerc-Mercier, S., Lemoine, R., Bigorgne, A.E., Sepulveda, F., Leveau, C., Fischer, A., Mahlaoui, N., Hadj-Rabia, S., de Saint Basile, G.
Published in British journal of dermatology (1951) (01.11.2016)
Published in British journal of dermatology (1951) (01.11.2016)
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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.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.07.2018)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.07.2018)
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Journal Article
CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis
Deiva, K, Mahlaoui, N, Beaudonnet, F, de Saint Basile, G, Caridade, G, Moshous, D, Mikaeloff, Y, Blanche, S, Fischer, A, Tardieu, M
Published in Neurology (10.04.2012)
Published in Neurology (10.04.2012)
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Journal Article
NATURALLY OCCURRING PRIMARY DEFICIENCIES OF THE IMMUNE SYSTEM
Fischer, A, Cavazzana-Calvo, M, Basile, G. De Saint, DeVillartay, J. P, Di Santo, J. P, Hivroz, C, Rieux-Laucat, F, Le Deist, F
Published in Annual review of immunology (01.01.1997)
Published in Annual review of immunology (01.01.1997)
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Journal Article
An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma
Hervier, B, Latour, S, Loussouarn, D, Rimbert, M, De-Saint-Basile, G, Picard, C, Hamidou, M
Published in Journal of neuroimmunology (25.01.2010)
Published in Journal of neuroimmunology (25.01.2010)
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Journal Article
Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation
Aricò, M, Zecca, M, Santoro, N, Caselli, D, Maccario, R, Danesino, C, de Saint Basile, G, Locatelli, F
Published in Bone marrow transplantation (Basingstoke) (01.06.2002)
Published in Bone marrow transplantation (Basingstoke) (01.06.2002)
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Journal Article
Transient familial haemophagocytic lymphohistiocytosis reactivation post‐CD34 haematopoietic stem cell transplantation
Almousa, H., Ouachée‐Chardin, M., Picard, C., Radford‐Weiss, I., Caillat‐Zucman, S., Cavazzana‐Calvo, M., Blanche, S., Saint Basile, G., Le Deist, F., Fischer, A.
Published in British journal of haematology (01.08.2005)
Published in British journal of haematology (01.08.2005)
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Journal Article
Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients
Stephan, J.L., Vlekova, V., Deist, F. Le, Blanche, S., Donadieu, J., Saint-Basile, G. De, Durandy, A., Griscelli, C., Fischer, A.
Published in The Journal of pediatrics (01.10.1993)
Published in The Journal of pediatrics (01.10.1993)
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Journal Article
Motor neuronopathy in Chediak–Higashi syndrome
Mathis, S, Cintas, P, de Saint-Basile, G, Magy, L, Funalot, B, Vallat, J.-M
Published in Journal of the neurological sciences (15.09.2014)
Published in Journal of the neurological sciences (15.09.2014)
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Journal Article
LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1
S. Hacein-Bey-Abina, Von Kalle, C., Schmidt, M., McCormack, M. P., Wulffraat, N., Leboulch, P., Lim, A., Osborne, C. S., Pawliuk, R., Morillon, E., Sorensen, R., Forster, A., Fraser, P., Cohen, J. I., G. de Saint Basile, Alexander, I., Wintergerst, U., Frebourg, T., Aurias, A., Stoppa-Lyonnet, D., Romana, S., Radford-Weiss, I., Gross, F., Valensi, F., Delabesse, E., Macintyre, E., Sigaux, F., Soulier, J., Leiva, L. E., Wissler, M., Prinz, C., Rabbitts, T. H., Le Deist, F., Fischer, A., Cavazzana-Calvo, M.
Published in Science (American Association for the Advancement of Science) (17.10.2003)
Published in Science (American Association for the Advancement of Science) (17.10.2003)
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Journal Article
CD40-CD40L Independent Ig Gene Hypermutation Suggests a Second B Cell Diversification Pathway in Humans
Weller, Sandra, Faili, Ahmad, Garcia, Corinne, Braun, Moritz C., Le Deist, Françoise, Geneviève de Saint Basile, Hermine, Olivier, Fischer, Alain, Reynaud, Claude-Agnès, Weill, Jean-Claude
Published in Proceedings of the National Academy of Sciences - PNAS (30.01.2001)
Published in Proceedings of the National Academy of Sciences - PNAS (30.01.2001)
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Journal Article
Rab27a controls HIV-1 assembly by regulating plasma membrane levels of phosphatidylinositol 4,5-bisphosphate
Gerber, P. Pereyra, Cabrini, M., Jancic, C., Paoletti, L., Banchio, C., von Bilderling, C., Sigaut, L., Pietrasanta, L., Duette, G., Freed, E, de Saint Basile, G., Moita, C. Ferreira, Moita, L. Ferreira, Amigorena, S., Benaroch, P., Geffner, J., Ostrowski, Matias
Published in The Journal of experimental medicine (04.05.2015)
Published in The Journal of experimental medicine (04.05.2015)
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Journal Article
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene
Griscelli, Claude, Pastural, Elodie, Jabado, Nada, Fischer, Alain, Basile, Geneviève de Saint, Barrat, Franck J, Dufourcq-Lagelouse, Rémi, Sanal, Ozden, Seger, Reinhard, Certain, Stéphanie
Published in Nature genetics (01.07.1997)
Published in Nature genetics (01.07.1997)
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Journal Article
Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis
Stepp, Susan E., Dufourcq-Lagelouse, Rémi, Le Deist, Françoise, Bhawan, Sadhna, Certain, Stéphanie, Mathew, Porunelloor A., Henter, Jan-Inge, Bennett, Michael, Fischer, Alain, Geneviève de Saint Basile, Kumar, Vinay
Published in Science (American Association for the Advancement of Science) (03.12.1999)
Published in Science (American Association for the Advancement of Science) (03.12.1999)
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Journal Article
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
Published in Nature (London) (11.02.1993)
Published in Nature (London) (11.02.1993)
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Journal Article
Perforin gene defects in familiar hemophagocytic lymphohistiocytosis
Stepp, SE, Dufourcq-Lagelouse, R, Le, Deist F, Bhawan, S, Certain, S, Mathew, PA, Henter, JI, Bennett, M, Fischer, A, Saint, Basile GD
Published in Science (American Association for the Advancement of Science) (03.12.1999)
Published in Science (American Association for the Advancement of Science) (03.12.1999)
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Journal Article
Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency
CAVAZZANA-CALVO, M, LE DEIST, F, DE SAINT BASILE, G, PAPADOPOULO, D, DE VILLARTAY, J. P, FISCHER, A
Published in The Journal of clinical investigation (01.03.1993)
Published in The Journal of clinical investigation (01.03.1993)
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Journal Article
Functional common gamma chain is not required for mast cell proliferation and survival
Chapdelaine, H, Canioni, D, De Saint-Basile, G, Hermine, O, Fischer, A
Published in Allergy, asthma, and clinical immunology (02.11.2012)
Published in Allergy, asthma, and clinical immunology (02.11.2012)
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