Søgeresultater - Perrine Pennamen

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  1. 1
    Molecular characterization of a series of 990 index patients with albinism

    Molecular characterization of a series of 990 index patients with albinism af Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Aurélien Trimouille, Laëtitia Gaston, Solène Monfermé, Didier Lacombe, Caroline Rooryck, Fanny Morice‐Picard, Benoı̂t Arveiler

    Udgivet 2018
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  2. 2
    Dopachrome tautomerase variants in patients with oculocutaneous albinism

    Dopachrome tautomerase variants in patients with oculocutaneous albinism af Perrine Pennamen, Angèle Tingaud‐Sequeira, Iveta Gažová, Margaret Keighren, Lisa McKie, Sandrine Marlin, Souad Gherbi Halem, Josseline Kaplan, Cédric Delevoye, Didier Lacombe, Claudio Plaisant, Vincent Michaud, Eulalie Lasseaux, Sophie Javerzat, Ian J. Jackson, Benoı̂t Arveiler

    Udgivet 2020
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  3. 3
    BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome

    BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome af Perrine Pennamen, Linh Le, Angèle Tingaud‐Sequeira, Mathieu Fiore, Anne Bauters, Nguyen Van Duong Béatrice, V. Coste, Jean‐Claude Bordet, Claudio Plaisant, Modibo Diallo, Vincent Michaud, Aurélien Trimouille, Didier Lacombe, Eulalie Lasseaux, Cédric Delevoye, Fanny Morice Picard, Bruno Delobel, Michael S. Marks, Benoı̂t Arveiler

    Udgivet 2020
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  4. 4
    CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells

    CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells af Julian Boutin, Juliette Rosier, David Cappellen, Florence Prat, Jérôme Toutain, Perrine Pennamen, Julie Bouron, Caroline Rooryck, Jean‐Philippe Merlio, Isabelle Lamrissi‐Garcia, Grégoire Cullot, Samuel Amintas, Veronique Guyonnet‐Dupérat, Cécile Ged, Jean‐Marc Blouin, Élodie Richard, Sandrine Dabernat, François Moreau‐Gaudry, Aurélie Bedel

    Udgivet 2021
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  5. 5
    CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations

    CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations af Grégoire Cullot, Julian Boutin, Jérôme Toutain, Florence Prat, Perrine Pennamen, Caroline Rooryck, Martin Teichmann, Emilie Rousseau, Isabelle Lamrissi‐Garcia, Veronique Guyonnet‐Dupérat, Alice Bibeyran, Magalie Lalanne, Valérie Prouzet‐Mauléon, Béatrice Turcq, Cécile Ged, Jean‐Marc Blouin, Emmanuel Richard, Sandrine Dabernat, François Moreau‐Gaudry, Aurélie Bedel

    Udgivet 2019
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  6. 6
    Cell cycle arrest and p53 prevent ON-target megabase-scale rearrangements induced by CRISPR-Cas9

    Cell cycle arrest and p53 prevent ON-target megabase-scale rearrangements induced by CRISPR-Cas9 af Grégoire Cullot, Julian Boutin, Sabrina Fayet, Florence Prat, Juliette Rosier, David Cappellen, Isabelle Lamrissi, Perrine Pennamen, Julie Bouron, Samuel Amintas, Chloé Thibault, Isabelle Moranvillier, Elodie Laharanne, Jean‐Philippe Merlio, Veronique Guyonnet‐Dupérat, Jean‐Marc Blouin, Emmanuel Richard, Sandrine Dabernat, François Moreau‐Gaudry, Aurélie Bedel

    Udgivet 2023
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  7. 7
    Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

    Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance af Zinan Zhang, Florian Gothe, Perrine Pennamen, John R. James, David McDonald, Carlos P. Mata, Yorgo Modis, Anas M. Alazami, Meghan Acres, Wolfram Haller, Claire Bowen, Rainer Döffinger, Jan Sinclair, Shannon Brothers, Yu Zhang, Helen Matthews, Sophie Naudion, Fanny Pelluard, Huda Alajlan, Yasuhiro Yamazaki, Luigi D. Notarangelo, James Thaventhiran, Karin R. Engelhardt, Hamoud Al‐Mousa, Sophie Hambleton, Caroline Rooryck, Kenneth G. C. Smith, Michael J. Lenardo

    Udgivet 2019
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  8. 8
    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

    SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability af Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frédéric Tran Mau‐Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gâtinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch‐Andersen, Trine Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti‐Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurélien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel G. Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Münnich, James R. Lupski, Christophe Philippe, Christel Thauvin‐Robinet, Laurence Faivre, Bekim Sadiković, Jérôme Govin, Bart Dermaut, Antonio Vitobello

    Udgivet 2023
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