Works by Brémond-Gignac, Dominique


Results: 17
    1

    PERSPECTIVE.

    Published in:
    2011
    By:
    • Brémond-Gignac, Dominique
    Publication type:
    Opinion
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    Functional Vision Analysis in Patients With CHARGE Syndrome.

    Published in:
    Journal of Pediatric Ophthalmology & Strabismus, 2020, v. 57, n. 2, p. 120, doi. 10.3928/01913913-20200207-02
    By:
    • Martin, Gilles C.;
    • Robert, Matthieu P.;
    • Challe, Georges;
    • Trinh, Nhung T. H.;
    • Attié-Bitach, Tania;
    • Brémond-Gignac, Dominique;
    • Bodaghi, Bahram;
    • Abadie, Véronique
    Publication type:
    Article
    6
    7

    Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

    Published in:
    Human Mutation, 2014, v. 35, n. 12, p. 1542, doi. 10.1002/humu.22722
    By:
    • Morin, Gilles;
    • Bruechle, Nadina Ortiz;
    • Singh, Amrathlal Rabbind;
    • Knopp, Cordula;
    • Jedraszak, Guillaume;
    • Elbracht, Miriam;
    • Brémond‐Gignac, Dominique;
    • Hartmann, Kathi;
    • Sevestre, Henri;
    • Deutz, Peter;
    • Hérent, Didier;
    • Nürnberg, Peter;
    • Roméo, Bernard;
    • Konrad, Kerstin;
    • Mathieu‐Dramard, Michèle;
    • Oldenburg, Johannes;
    • Bourges‐Petit, Elisabeth;
    • Shen, Yuequan;
    • Zerres, Klaus;
    • Ouadid‐Ahidouch, Halima
    Publication type:
    Article
    8

    Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

    Published in:
    Human Mutation, 2014, v. 35, n. 10, p. 1121, doi. 10.1002/humu.22621
    By:
    • Morin, Gilles;
    • Bruechle, Nadina Ortiz;
    • Singh, Amrathlal Rabbind;
    • Knopp, Cordula;
    • Jedraszak, Guillaume;
    • Elbracht, Miriam;
    • Brémond‐Gignac, Dominique;
    • Hartmann, Kathi;
    • Sevestre, Henri;
    • Deutz, Peter;
    • Hérent, Didier;
    • Nürnberg, Peter;
    • Roméo, Bernard;
    • Konrad, Kerstin;
    • Mathieu‐Dramard, Michèle;
    • Oldenburg, Johannes;
    • Bourges‐Petit, Elisabeth;
    • Shen, Yuequan;
    • Zerres, Klaus;
    • Ouadid‐Ahidouch, Halima
    Publication type:
    Article
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    11

    Ocular sequelae of epidermal necrolysis: French national audit of practices, literature review and proposed management.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02616-6
    By:
    • Thorel, Dhyna;
    • Ingen-Housz-Oro, Saskia;
    • Benaïm, Daniel;
    • Daien, Vincent;
    • Gabison, Eric;
    • Saunier, Valentine;
    • Béral, Laurence;
    • Touboul, David;
    • Brémond-Gignac, Dominique;
    • Robert, Matthieu;
    • Vasseur, Robin;
    • Royer, Gérard;
    • Dereure, Olivier;
    • Milpied, Brigitte;
    • Bernier, Claire;
    • Welfringer-Morin, Anne;
    • Bodemer, Christine;
    • Cordel, Nadège;
    • Tauber, Marie;
    • Burillon, Carole
    Publication type:
    Article
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    Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes.

    Published in:
    Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 11, p. 2401, doi. 10.1007/s00417-019-04462-4
    By:
    • Valensi, Maud;
    • Goldman, Gabrielle;
    • Marchant, Dominique;
    • Van Den Berghe, Loïc;
    • Jonet, Laurent;
    • Daruich, Alejandra;
    • Robert, Matthieu P.;
    • Krejci, Eric;
    • Klein, Christophe;
    • Mascarelli, Frédéric;
    • Versaux-Botteri, Claudine;
    • Moulin, Alexandre;
    • Putterman, Marc;
    • Guimiot, Fabien;
    • Molina, Thierry;
    • Terris, Benoît;
    • Brémond-Gignac, Dominique;
    • Behar-Cohen, Francine;
    • Abitbol, Marc M.
    Publication type:
    Article