Výsledky vyhledávání - Cécile Masson

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  1. 1
    Adenine base editor–mediated correction of the common and severe IVS1-110 (G>A) β-thalassemia mutation

    Adenine base editor–mediated correction of the common and severe IVS1-110 (G>A) β-thalassemia mutation Autor Giulia Hardouin, Panagiotis Antoniou, Pierre Martinucci, Tristan Félix, Sandra Manceau, Laure Joseph, Cécile Masson, Samantha Scaramuzza, Giuliana Ferrari, Marina Cavazzana, Annarita Miccio

    Vydáno 2022
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  2. 2
    Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem and Progenitor Cells for Therapeutic Genomic Rearrangements

    Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem and Progenitor Cells for Therapeutic Genomic Rearrangements Autor Annalisa Lattanzi, Vasco Meneghini, Giulia Pavani, Fatima Amor, Sophie Ramadier, Tristan Félix, Chiara Antoniani, Cécile Masson, Olivier Alibeu, Ciaran M. Lee, Matthew H. Porteus, Gang Bao, Mario Amendola, Fulvio Mavilio, Annarita Miccio

    Vydáno 2018
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  3. 3
    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population Autor Hisham Megahed, Michaël Nicouleau, Giulia Barcia, Daniel Medina-Cano, Karine Siquier-Pernet, Christine Bôle‐Feysot, Mélanie Parisot, Cécile Masson, Patrick Nitschké, Marlène Rio, Nadia Bahi‐Buisson, Isabelle Desguerre, Arnold Münnich, Nathalie Boddaert, Laurence Colleaux, Vincent Cantagrel

    Vydáno 2016
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  4. 4
    Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation

    Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation Autor David Buchbinder, Jeffrey R. Stinson, Diane J. Nugent, Lucie Heurtier, Felipe Suárez, Gauthaman Sukumar, Clifton L. Dalgard, Cécile Masson, Mélanie Parisot, Yu Zhang, Helen Matthews, Helen C. Su, Anne Durandy, Alain Fischer, Sven Kracker, Andrew L. Snow

    Vydáno 2015
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  5. 5
    Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype

    Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype Autor Leslie Weber, Giacomo Frati, Tristan Félix, Giulia Hardouin, Antonio Casini, Clara Wollenschlaeger, Vasco Meneghini, Cécile Masson, Anne De Cian, Anne Chalumeau, Fulvio Mavilio, Mario Amendola, Isabelle André‐Schmutz, Anna Cereseto, Wassim El Nemer, Jean‐Paul Concordet, Carine Giovannangeli, Marina Cavazzana, Annarita Miccio

    Vydáno 2020
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  6. 6
    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans Autor Camille Humbert, Flora Silbermann, Bharti Morar, Mélanie Parisot, Mohammed Zarhrate, Cécile Masson, Frédéric Torès, Patricia Blanchet, Marie-José Perez, Yuliya Petrov, Philippe Khau Van Kien, J. Roume, Brigitte Leroy, Olivier Gribouval, Luba Kalaydjieva, Laurence Heidet, Rémi Salomon, Corinne Antignac, Alexandre Benmerah, Sophie Saunier, Marc Jeanpierre

    Vydáno 2014
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  7. 7
    PIK3CA inhibition in models of proliferative glomerulonephritis and lupus nephritis

    PIK3CA inhibition in models of proliferative glomerulonephritis and lupus nephritis Autor Junna Yamaguchi, Pierre Isnard, Noémie Robil, Pierre de la Grange, Clément Hoguin, Alain Schmitt, Aurélie Hummel, Jérôme Mégret, Nicolas Goudin, Marine Luka, Mickaël Ménager, Cécile Masson, Mohammed Zarhrate, Christine Bôle‐Feysot, Michalina Janiszewska, Kornélia Polyák, Julien Dairou, Sara Baldassari, Stéphanie Baulac, Christine Broissand, Christophe Legendre, Fabiola Terzi, Guillaume Canaud

    Vydáno 2024
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  8. 8
    Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression

    Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression Autor Panagiotis Antoniou, Giulia Hardouin, Pierre Martinucci, Giacomo Frati, Tristan Félix, Anne Chalumeau, Letizia Fontana, Jeanne Martin, Cécile Masson, Mégane Brusson, Giulia Maule, Marion Rosello, Carine Giovannangeli, Vincent Abramowski, Jean‐Pierre de Villartay, Jean‐Paul Concordet, Filippo Del Bene, Wassim El Nemer, Mario Amendola, Marina Cavazzana, Anna Cereseto, Oriana Romano, Annarita Miccio

    Vydáno 2022
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  9. 9
    Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

    Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears Autor Christopher T. Gordon, Florence Petit, Peter M. Kroisel, Linda P. Jakobsen, Roseli Maria Zechi‐Ceide, Myriam Oufadem, Christine Bôle‐Feysot, Solenn Pruvost, Cécile Masson, Frédéric Torès, Thierry Hieu, Patrick Nitschké, Pernille Lindholm, P. Pellerin, Maria Leine Guion‐Almeida, Nancy Mizue Kokitsu‐Nakata, Siulan Vendramini‐Pittoli, Arnold Münnich, Stanislas Lyonnet, Muriel Holder‐Espinasse, Jeanne Amiel

    Vydáno 2013
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  10. 10
    Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

    Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease Autor C. David, Mihaly Badonyi, Robin Kechiche, Antonella Insalaco, Marco Zecca, Fabrizio De Benedetti, Simona Orcesi, Luisa Chiapparini, Patrizia Comoli, Silvia Federici, Marco Gattorno, Monia Ginevrino, Elisa Giorgio, Valentina Matteo, Patricia Morán‐Álvarez, Davide Politano, Giusi Prencipe, Fabio Sirchia, Stefano Volpi, Cécile Masson, Gillian Rice, Marie‐Louise Frémond, Alice Lepelley, Joseph A. Marsh, Yanick J. Crow

    Vydáno 2024
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  11. 11
    Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

    Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability Autor Marion Failler, Heon Yung Gee, Pauline Krug, Kwangsic Joo, Jan Halbritter, Lilya Belkacem, Emilie Filhol, Jonathan D. Porath, Daniela A. Braun, Markus Schueler, Amandine Frigo, Olivier Alibeu, Cécile Masson, Karine Brochard, Bruno Hurault de Ligny, Robert Novo, Christine Piétrement, Hülya Kayserili, Rémi Salomon, Marie‐Claire Gubler, Edgar A. Otto, Corinne Antignac, Joon Kim, Alexandre Benmerah, Friedhelm Hildebrandt, Sophie Saunier

    Vydáno 2014
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  12. 12
    FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

    FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases Autor Antoine Paul, Anthony Drecourt, Floriane Petit, D. Dupin Deguine, Christelle Vasnier, Myriam Oufadem, Cécile Masson, Crystel Bonnet, Saber Masmoudi, Isabelle Mosnier, L. Mahieu, D. Bouccara, Josseline Kaplan, Georges Challe, C. Domange, Fanny Mochel, Olivier Sterkers, S. Gerber, Patrick Nitschké, Christine Bôle‐Feysot, Laurence Jonard, Souad Gherbi, Oriane Mercati, Ines Aïssa, Stanislas Lyonnet, Agnès Rötig, Agnès Delahodde, Sandrine Marlin

    Vydáno 2017
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  13. 13
    Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

    Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy Autor Anne Guimier, Christopher T. Gordon, François Godard, Gianina Ravenscroft, Myriam Oufadem, Christelle Vasnier, Caroline Rambaud, Patrick Nitschké, Christine Bôle‐Feysot, Cécile Masson, Stéphane Dauger, Cheryl Longman, Nigel G. Laing, B. Kugener, Damien Bonnet, Patrice Bouvagnet, Sylvie Di Filippo, Vincent Probst, Richard Redon, Philippe Charron, Agnès Rötig, Stanislas Lyonnet, Alain Dautant, Loïc de Pontual, Jean-Paul di Rago, Agnés Delahodde, Jeanne Amiel

    Vydáno 2016
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  14. 14
    Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

    Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome Autor S. Gerber, Kamil J. Alzayady, Lydie Bürglen, Dominique Brémond‐Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoît Funalot, Raphaël Calmon, Alexandra Dürr, Vera Lúcia Gil‐da‐Silva‐Lopes, Maria Fernanda Ribeiro Bittar, Christophe Orssaud, Bénédicte Héron, Edward Ayoub, Patrick Berquin, Nadia Bahi‐Buisson, Christine Bole, Cécile Masson, Arnold Münnich, Matias Simons, Marion Delous, Hélène Dollfus, Nathalie Boddaert, Stanislas Lyonnet, Josseline Kaplan, Patrick Calvas, David I. Yule, Jean‐Michel Rozet, Lucas Fares‐Taie

    Vydáno 2016
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  15. 15
    Gain-of-function human <i>UNC93B1</i> variants cause systemic lupus erythematosus and chilblain lupus

    Gain-of-function human <i>UNC93B1</i> variants cause systemic lupus erythematosus and chilblain lupus Autor C. David, Carlos A. Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian Rice, Blaise Didry‐Barca, L. Maisonneuve, Luís Seabra, Robin Kechiche, Cécile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, C. Paul, G. R. Malik, Alison Ross, Jane Adam, Jo Walsh, Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bader‐Meunier, Joseph A. Marsh, Jean‐Laurent Casanova, Yanick J. Crow, Bénédicte Manoury, Marie‐Louise Frémond, Jonathan Bohlen, Alice Lepelley

    Vydáno 2024
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  16. 16
    Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

    Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly Autor Karine Poirier, Nicolas Lebrun, Loïc Broix, Guoling Tian, Yoann Saillour, Cécile Boscheron, Elena Parrini, Stéphanie Valence, Benjamin Saint Pierre, Madison Oger, Didier Lacombe, David Geneviève, Elena Fontana, Francesca Darra, Claude Cancès, Magalie Barth, Dominique Bonneau, Bernardo Dalla Bernadina, Sylvie Nguyen, Cyril Gitiaux, Philippe Parent, Vincent des Portes, Jean Michel Pedespan, Victoire Legrez, Laetitia Castelnau-Ptakine, Patrick Nitschké, Thierry Hieu, Cécile Masson, Diana Zélénika, Annie Andrieux, Fiona Francis, Renzo Guerrini, Nicholas J. Cowan, Nadia Bahi‐Buisson, Jamel Chelly

    Vydáno 2013
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  17. 17
    Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia

    Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia Autor Christopher T. Gordon, K. Nicole Weaver, Roseli Maria Zechi‐Ceide, Erik Madsen, André L. P. Tavares, Myriam Oufadem, Yukiko Kurihara, Igor Adameyko, Arnaud Picard, Sylvain Breton, S. Pierrot, Martin Biosse Duplan, Norine Voisin, Cécile Masson, Christine Bôle‐Feysot, Patrick Nitschké, Marie-Ange Delrue, Didier Lacombe, Maria Leine Guion‐Almeida, Priscila Padilha Moura, Daniela Gamba Garib, Arnold Münnich, Patrik Ernfors, Robert B. Hufnagel, Robert J. Hopkin, Hiroki Kurihara, Howard M. Saal, David D. Weaver, Nicholas Katsanis, Stanislas Lyonnet, Christelle Golzio, David E. Clouthier, Jeanne Amiel

    Vydáno 2015
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  18. 18
    Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

    Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome Autor Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek, Julie Patat, Giulia Menara, Bruno Collinet, Dominique Liger, D. Durand, Olivier Gribouval, Olivia Boyer, Laurine Buscara, Gaëlle Martin, Eduardo Machuca, Fabien Névo, Ewen Lescop, Daniela A. Braun, Anne‐Claire Boschat, Sylvia Sanquer, Ida Chiara Guerrera, Patrick Revy, Mélanie Parisot, Cécile Masson, Nathalie Boddaert, Marina Charbit, Stéphane Decramer, Robert Novo, Marie-Alice Macher, Bruno Ranchin, Justine Bacchetta, Audrey Laurent, Sophie Collardeau‐Frachon, Albertien M. van Eerde, Friedhelm Hildebrandt, Daniella Magen, Corinne Antignac, Herman van Tilbeurgh, Géraldine Mollet

    Vydáno 2019
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  19. 19
    MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

    MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates Autor Anne Guimier, George C. Gabriel, Fanny Bajolle, Michael Tsang, Hui Liu, Aaron Noll, Molly Schwartz, Rajae El Malti, Laurie D. Smith, Nikolai Klena, Gina Jimenez, Neil Miller, Myriam Oufadem, Anne Moreau de Bellaing, Hisato Yagi, Carol Saunders, Candice N. Baker, Sylvie Di Filippo, Kevin A. Peterson, Isabelle Thiffault, Christine Bôle‐Feysot, Linda D. Cooley, Emily Farrow, Cécile Masson, Patric Schoen, Jean‐François Deleuze, Patrick Nitschké, Stanislas Lyonnet, Loïc de Pontual, Stephen A. Murray, Damien Bonnet, Stephen F. Kingsmore, Jeanne Amiel, Patrice Bouvagnet, Cecilia Lo, Christopher T. Gordon

    Vydáno 2015
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  20. 20
    Somatic genetic rescue of a germline ribosome assembly defect

    Somatic genetic rescue of a germline ribosome assembly defect Autor Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Jin Li, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle‐Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford‐Weiss, Frédéric Torès, Jean‐Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné‐Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy

    Vydáno 2021
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