Works by Cavazzana, Marina


Results: 80
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    Ovarian tissue cryopreservation for fertility preservation before hematopoietic stem cell transplantation in patients with sickle cell disease: safety, ovarian function follow-up, and results of ovarian tissue transplantation.

    Published in:
    Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 4, p. 1027, doi. 10.1007/s10815-024-03054-4
    By:
    • Missontsa, Mitawa Millin;
    • Bernaudin, Françoise;
    • Fortin, Anne;
    • Dhédin, Nathalie;
    • Pondarré, Corinne;
    • Yakouben, Karima;
    • Neven, Bénédicte;
    • Castelle, Martin;
    • Cavazzana, Marina;
    • Lezeau, Harry;
    • Peycelon, Matthieu;
    • Paye-Jaouen, Annabel;
    • Sroussi, Jeremy;
    • Diesch-Furlanetto, Tamara;
    • Barraud-Lange, Virginie;
    • Sarnacki, Sabine;
    • Fahd, Mony;
    • Marchand, Isis;
    • Delcour, Clémence;
    • Vexiau, Dominique
    Publication type:
    Article
    3

    Gene therapy of severe combined immunodeficiencies.

    Published in:
    Journal of Gene Medicine, 2001, v. 3, n. 3, p. 201, doi. 10.1002/1521-2254(200105/06)3:3<201::AID-JGM195>3.0.CO;2-Z
    By:
    • Cavazzana-Calvo, Marina;
    • Hacein-Bey, Salima;
    • Yates, Frank;
    • de Villartay, J. P.;
    • Le Deist, F.;
    • Fischer, A.
    Publication type:
    Article
    4

    Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous ATR Mutations.

    Published in:
    Human Mutation, 2013, v. 34, n. 2, p. 374, doi. 10.1002/humu.22245
    By:
    • Mokrani‐Benhelli, Houda;
    • Gaillard, Laetitia;
    • Biasutto, Patricia;
    • Le Guen, Tangui;
    • Touzot, Fabien;
    • Vasquez, Nadia;
    • Komatsu, Jun;
    • Conseiller, Emmanuel;
    • Pïcard, Capucine;
    • Gluckman, Eliane;
    • Francannet, Christine;
    • Fischer, Alain;
    • Durandy, Anne;
    • Soulier, Jean;
    • de Villartay, Jean‐Pierre;
    • Cavazzana‐Calvo, Marina;
    • Revy, Patrick
    Publication type:
    Article
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    Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
    By:
    • Pontoizeau, Clément;
    • Simon-Sola, Marcelo;
    • Gaborit, Clovis;
    • Nguyen, Vincent;
    • Rotaru, Irina;
    • Tual, Nolan;
    • Colella, Pasqualina;
    • Girard, Muriel;
    • Biferi, Maria-Grazia;
    • Arnoux, Jean-Baptiste;
    • Rötig, Agnès;
    • Ottolenghi, Chris;
    • de Lonlay, Pascale;
    • Mingozzi, Federico;
    • Cavazzana, Marina;
    • Schiff, Manuel
    Publication type:
    Article
    8

    Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
    By:
    • Pontoizeau, Clément;
    • Simon-Sola, Marcelo;
    • Gaborit, Clovis;
    • Nguyen, Vincent;
    • Rotaru, Irina;
    • Tual, Nolan;
    • Colella, Pasqualina;
    • Girard, Muriel;
    • Biferi, Maria-Grazia;
    • Arnoux, Jean-Baptiste;
    • Rötig, Agnès;
    • Ottolenghi, Chris;
    • de Lonlay, Pascale;
    • Mingozzi, Federico;
    • Cavazzana, Marina;
    • Schiff, Manuel
    Publication type:
    Article
    9

    Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30880-w
    By:
    • Pontoizeau, Clément;
    • Simon-Sola, Marcelo;
    • Gaborit, Clovis;
    • Nguyen, Vincent;
    • Rotaru, Irina;
    • Tual, Nolan;
    • Colella, Pasqualina;
    • Girard, Muriel;
    • Biferi, Maria-Grazia;
    • Arnoux, Jean-Baptiste;
    • Rötig, Agnès;
    • Ottolenghi, Chris;
    • de Lonlay, Pascale;
    • Mingozzi, Federico;
    • Cavazzana, Marina;
    • Schiff, Manuel
    Publication type:
    Article
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    Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34493-1
    By:
    • Antoniou, Panagiotis;
    • Hardouin, Giulia;
    • Martinucci, Pierre;
    • Frati, Giacomo;
    • Felix, Tristan;
    • Chalumeau, Anne;
    • Fontana, Letizia;
    • Martin, Jeanne;
    • Masson, Cecile;
    • Brusson, Megane;
    • Maule, Giulia;
    • Rosello, Marion;
    • Giovannangeli, Carine;
    • Abramowski, Vincent;
    • de Villartay, Jean-Pierre;
    • Concordet, Jean-Paul;
    • Del Bene, Filippo;
    • El Nemer, Wassim;
    • Amendola, Mario;
    • Cavazzana, Marina
    Publication type:
    Article
    15

    T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0580-z
    By:
    • Clarke, Erik L.;
    • Connell, A. Jesse;
    • Six, Emmanuelle;
    • Kadry, Nadia A.;
    • Abbas, Arwa A.;
    • Hwang, Young;
    • Everett, John K.;
    • Hofstaedter, Casey E.;
    • Marsh, Rebecca;
    • Armant, Myriam;
    • Kelsen, Judith;
    • Notarangelo, Luigi D.;
    • Collman, Ronald G.;
    • Hacein-Bey-Abina, Salima;
    • Kohn, Donald B.;
    • Cavazzana, Marina;
    • Fischer, Alain;
    • Williams, David A.;
    • Pai, Sung-Yun;
    • Bushman, Frederic D.
    Publication type:
    Article
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    A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.

    Published in:
    2007
    By:
    • Marrella, Veronica;
    • Poliani, Pietro Luigi;
    • Casati, Anna;
    • Rucci, Francesca;
    • Frascoli, Laura;
    • Gougeon, Marie-Lise;
    • Lemercier, Brigitte;
    • Bosticardo, Marita;
    • Ravanini, Maria;
    • Battaglia, Manuela;
    • Roncarolo, Maria Grazia;
    • Cavazzana-Calvo, Marina;
    • Facchetti, Fabio;
    • Notarangelo, Luigi D.;
    • Vezzoni, Paolo;
    • Grassi, Fabio;
    • Villa, Anna
    Publication type:
    journal article
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    Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome.

    Published in:
    PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0172147
    By:
    • de Montalembert, Mariane;
    • Ribeil, Jean-Antoine;
    • Brousse, Valentine;
    • Guerci-Bresler, Agnes;
    • Stamatoullas, Aspasia;
    • Vannier, Jean-Pierre;
    • Dumesnil, Cécile;
    • Lahary, Agnès;
    • Touati, Mohamed;
    • Bouabdallah, Krimo;
    • Cavazzana, Marina;
    • Chauzit, Emmanuelle;
    • Baptiste, Amandine;
    • Lefebvre, Thibaud;
    • Puy, Hervé;
    • Elie, Caroline;
    • Karim, Zoubida;
    • Ernst, Olivier;
    • Rose, Christian
    Publication type:
    Article
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    Dépistage néonatal de la drépanocytose: Des données en faveur de sa généralisation.

    Published in:
    Médecine Sciences, 2018, v. 34, n. 4, p. 309, doi. 10.1051/medsci/20183404010
    By:
    • Cavazzana, Marina;
    • Stanislas, Aurélie;
    • Rémus, Christelle;
    • Duwez, Patricia;
    • Renoult, Julie;
    • Cretet, Justine;
    • Fernandes, Sabrina;
    • Le Mée, Charlotte;
    • Allaf, Bichr;
    • Porquet, Dominique;
    • Munnich, Arnold;
    • Polak, Michel;
    • Gauthereau, Valérie;
    • Girot, Robert
    Publication type:
    Article
    24

    Thérapie génique dans la drépanocytose.

    Published in:
    Médecine Sciences, 2017, v. 33, n. 5, p. 463, doi. 10.1051/medsci/20173305002
    By:
    • Ribeil, Jean-Antoine;
    • Blanche, Stéphane;
    • Cavazzana, Marina
    Publication type:
    Article
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    Successful treatment of severe MSUD in Bckdhb<sup>−/−</sup> mice with neonatal AAV gene therapy.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 1, p. 41, doi. 10.1002/jimd.12604
    By:
    • Pontoizeau, Clément;
    • Gaborit, Clovis;
    • Tual, Nolan;
    • Simon‐Sola, Marcelo;
    • Rotaru, Irina;
    • Benoist, Marion;
    • Colella, Pasqualina;
    • Lamazière, Antonin;
    • Brassier, Anaïs;
    • Arnoux, Jean‐Baptiste;
    • Rötig, Agnès;
    • Ottolenghi, Chris;
    • de Lonlay, Pascale;
    • Mingozzi, Federico;
    • Cavazzana, Marina;
    • Schiff, Manuel
    Publication type:
    Article
    29

    Sustained remission after haploidentical bone marrow transplantation in a child with refractory systemic juvenile idiopathic arthritis.

    Published in:
    Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00523-3
    By:
    • Morelle, Guillaume;
    • Castelle, Martin;
    • Pinto, Graziella;
    • Breton, Sylvain;
    • Bendavid, Matthieu;
    • Boussard, Charlotte;
    • Mouy, Richard;
    • Bader-Meunier, Brigitte;
    • Semeraro, Michaela;
    • Faye, Albert;
    • Cavazzana, Marina;
    • Neven, Bénédicte;
    • Blanche, Stéphane;
    • Quartier, Pierre;
    • Moshous, Despina
    Publication type:
    Article
    30

    Loss of ARHGEF1 causes a human primary antibody deficiency.

    Published in:
    2019
    By:
    • Bouafia, Amine;
    • Lofek, Sébastien;
    • Bruneau, Julie;
    • Chentout, Loïc;
    • Lamrini, Hicham;
    • Trinquand, Amélie;
    • Deau, Marie-Céline;
    • Heurtier, Lucie;
    • Meignin, Véronique;
    • Picard, Capucine;
    • Macintyre, Elizabeth;
    • Alibeu, Olivier;
    • Bras, Marc;
    • Molina, Thierry Jo;
    • Cavazzana, Marina;
    • André-Schmutz, Isabelle;
    • Durandy, Anne;
    • Fischer, Alain;
    • Oksenhendler, Eric;
    • Kracker, Sven
    Publication type:
    journal article
    31

    Corrigendum.

    Published in:
    2015
    By:
    • Deau, Marie-Céline;
    • Heurtier, Lucie;
    • Frange, Pierre;
    • Suarez, Felipe;
    • Bole-Feysot, Christine;
    • Nitschke, Patrick;
    • Cavazzana, Marina;
    • Picard, Capucine;
    • Durandy, Anne;
    • Fischer, Alain;
    • Kracker, Sven
    Publication type:
    Correction Notice
    32

    A human immunodeficiency caused by mutations in the PIK3R1 gene.

    Published in:
    Journal of Clinical Investigation, 2014, v. 124, n. 9, p. 3923, doi. 10.1172/JCI75746
    By:
    • Deau, Marie-Céline;
    • Heurtier, Lucie;
    • Frange, Pierre;
    • Suarez, Felipe;
    • Bole-Feysot, Christine;
    • Nitschke, Patrick;
    • Cavazzana, Marina;
    • Picard, Capucine;
    • Durandy, Anne;
    • Fischer, Alain;
    • Kracker, Sven
    Publication type:
    Article
    33

    Insertion Sites in Engrafted Cells Cluster Within a Limited Repertoire of Genomic Areas After Gammaretroviral Vector Gene Therapy.

    Published in:
    Molecular Therapy, 2011, v. 19, n. 11, p. 2031, doi. 10.1038/mt.2011.178
    By:
    • Deichmann, Annette;
    • Brugman, Martijn H;
    • Bartholomae, Cynthia C;
    • Schwarzwaelder, Kerstin;
    • Verstegen, Monique MA;
    • Howe, Steven J;
    • Arens, Anne;
    • Ott, Marion G;
    • Hoelzer, Dieter;
    • Seger, Reinhard;
    • Grez, Manuel;
    • Hacein-Bey-Abina, Salima;
    • Cavazzana-Calvo, Marina;
    • Fischer, Alain;
    • Paruzynski, Anna;
    • Gabriel, Richard;
    • Glimm, Hanno;
    • Abel, Ulrich;
    • Cattoglio, Claudia;
    • Mavilio, Fulvio
    Publication type:
    Article
    34

    Stem Cell Gene Therapy for Fanconi Anemia: Report from the 1st International Fanconi Anemia Gene Therapy Working Group Meeting.

    Published in:
    Molecular Therapy, 2011, v. 19, n. 7, p. 1193, doi. 10.1038/mt.2011.78
    By:
    • Tolar, Jakub;
    • Adair, Jennifer E.;
    • Antoniou, Michael;
    • Bartholomae, Cynthia C.;
    • Becker, Pamela S.;
    • Blazar, Bruce R.;
    • Bueren, Juan;
    • Carroll, Thomas;
    • Cavazzana-Calvo, Marina;
    • Clapp, D. Wade;
    • Dalgleish, Robert;
    • Galy, Anne;
    • Gaspar, H Bobby;
    • Hanenberg, Helmut;
    • Von Kalle, Christof;
    • Kiem, Hans-Peter;
    • Lindeman, Dirk;
    • Naldini, Luigi;
    • Navarro, Susana;
    • Renella, Raffaele
    Publication type:
    Article
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    Stable and Functional Lymphoid Reconstitution in Artemis-deficient Mice Following Lentiviral Artemis Gene Transfer Into Hematopoietic Stem Cells.

    Published in:
    Molecular Therapy, 2008, v. 16, n. 8, p. 1490, doi. 10.1038/mt.2008.118
    By:
    • Benjelloun, Fatine;
    • Garrigue, Alexandrine;
    • Demerens-de Chappedelaine, Corinne;
    • Soulas-Sprauel, Pauline;
    • Malassis-Séris, Michele;
    • Stockholm, Daniel;
    • Hauer, Julia;
    • Blondeau, Johanna;
    • Rivière, Julie;
    • Lim, Annick;
    • Le Lorc'h, Marc;
    • Romana, Serge;
    • Brousse, Nicole;
    • Pâques, Frederique;
    • Galy, Anne;
    • Charneau, Pierre;
    • Fischer, Alain;
    • de Villartay, Jean-Pierre;
    • Cavazzana-Calvo, Marina
    Publication type:
    Article
    37

    Restoration of Human B-cell Differentiation Into NOD-SCID Mice Engrafted With Gene-corrected CD34<sup>+</sup> Cells Isolated From Artemis or RAG1-deficient Patients.

    Published in:
    Molecular Therapy, 2008, v. 16, n. 2, p. 396, doi. 10.1038/sj.mt.6300353
    By:
    • Lagresle-Peyrou, Chantal;
    • Benjelloun, Fatine;
    • Hue, Christophe;
    • Andre-Schmutz, Isabelle;
    • Bonhomme, Delphine;
    • Forveille, Monique;
    • Beldjord, Kheira;
    • Hacein-Bey-Abina, Salima;
    • De Villartay, Jean-Pierre;
    • Charneau, Pierre;
    • Durandy, Anne;
    • Fischer, Alain;
    • Cavazzana-Calvo, Marina
    Publication type:
    Article
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    Gene therapy of severe combined immunodeficiencies.

    Published in:
    Immunological Reviews, 2000, v. 178, n. 1, p. 13, doi. 10.1034/j.1600-065x.2000.17806.x
    By:
    • Fischer, Alain;
    • Hacein-Bey, Salima;
    • Le Deist, Francoise;
    • Soudais, Claire;
    • Di Santo, James P.;
    • de Saint Basile, Genevieve;
    • Cavazzana-Calvo, Marina
    Publication type:
    Article
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    Restoration of T and B Cell Differentiation after RAG1 Gene Transfer in Human RAG1 Defective Hematopoietic Stem Cells.

    Published in:
    Biomedicines, 2024, v. 13, n. 7, p. 1495, doi. 10.3390/biomedicines12071495
    By:
    • Sorel, Nataël;
    • Díaz-Pascual, Francisco;
    • Bessot, Boris;
    • Sadek, Hanem;
    • Mollet, Chloé;
    • Chouteau, Myriam;
    • Zahn, Marco;
    • Gil-Farina, Irene;
    • Tajer, Parisa;
    • van Eggermond, Marja;
    • Berghuis, Dagmar;
    • Lankester, Arjan C.;
    • André, Isabelle;
    • Gabriel, Richard;
    • Cavazzana, Marina;
    • Pike-Overzet, Kasrin;
    • Staal, Frank J. T.;
    • Lagresle-Peyrou, Chantal
    Publication type:
    Article
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