Found: 15

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  • 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 391, doi. 10.1186/s13023-014-0207-4
    By:
    • Monin, Marie-Lorraine;
    • Mignot, Cyril;
    • De Lonlay, Pascale;
    • Héron, Bénédicte;
    • Masurel, Alice;
    • Mathieu-Dramard, Michèle;
    • Lenaerts, Catherine;
    • Thauvin, Christel;
    • Gérard, Marion;
    • Roze, Emmanuel;
    • Jacquette, Aurélia;
    • Charles, Perrine;
    • de Baracé, Claire;
    • Drouin-Garraud, Valérie;
    • Khau Van Kien, Philippe;
    • Cormier-Daire, Valérie;
    • Mayer, Michèle;
    • Ogier, Hélène;
    • Brice, Alexis;
    • Seta, Nathalie
    Publication type:
    Article

  • 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

    Published in:
    2014
    By:
    • Monin, Marie-Lorraine;
    • Mignot, Cyril;
    • De Lonlay, Pascale;
    • Héron, Bénédicte;
    • Masurel, Alice;
    • Mathieu-Dramard, Michèle;
    • Lenaerts, Catherine;
    • Thauvin, Christel;
    • Gérard, Marion;
    • Roze, Emmanuel;
    • Jacquette, Aurélia;
    • Charles, Perrine;
    • de Baracé, Claire;
    • Drouin-Garraud, Valérie;
    • Khau Van Kien, Philippe;
    • Cormier-Daire, Valérie;
    • Mayer, Michèle;
    • Ogier, Hélène;
    • Brice, Alexis;
    • Seta, Nathalie
    Publication type:
    Journal Article

  • Natural history of Barth syndrome: a national cohort study of 22 patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-70
    By:
    • Rigaud, Charlotte;
    • Lebre, Anne-Sophie;
    • Touraine, Renaud;
    • Beaupain, Blandine;
    • Ottolenghi, Chris;
    • Chabli, Allel;
    • Ansquer, Helene;
    • Ozsahin, Hulya;
    • Di Filippo, Sylvie;
    • De Lonlay, Pascale;
    • Borm, Betina;
    • Rivier, Francois;
    • Vaillant, Marie-Catherine;
    • Mathieu-Dramard, Michèle;
    • Goldenberg, Alice;
    • Viot, Géraldine;
    • Charron, Philippe;
    • Rio, Marlene;
    • Bonnet, Damien;
    • Donadieu, Jean
    Publication type:
    Article

  • Natural history of Barth syndrome: a national cohort study of 22 patients.

    Published in:
    2013
    By:
    • Rigaud, Charlotte;
    • Lebre, Anne-Sophie;
    • Touraine, Renaud;
    • Beaupain, Blandine;
    • Ottolenghi, Chris;
    • Chabli, Allel;
    • Ansquer, Helene;
    • Ozsahin, Hulya;
    • Di Filippo, Sylvie;
    • De Lonlay, Pascale;
    • Borm, Betina;
    • Rivier, Francois;
    • Vaillant, Marie-Catherine;
    • Mathieu-Dramard, Michèle;
    • Goldenberg, Alice;
    • Viot, Géraldine;
    • Charron, Philippe;
    • Rio, Marlene;
    • Bonnet, Damien;
    • Donadieu, Jean
    Publication type:
    journal article

  • Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome.

    Published in:
    Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/943905
    By:
    • Jedraszak, Guillaume;
    • Receveur, Aline;
    • Andrieux, Joris;
    • Mathieu-Dramard, Michèle;
    • Copin, Henri;
    • Morin, Gilles
    Publication type:
    Article

  • Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3877, doi. 10.1002/ajmg.a.62448
    By:
    • Jobic, Florence;
    • Lacot‐Leriche, Emilie;
    • Piton, Amélie;
    • Le Moing, Anne‐Gaëlle;
    • Mathieu‐Dramard, Michèle;
    • Costantini, Sara;
    • Morin, Gilles;
    • Jedraszak, Guillaume
    Publication type:
    Article

  • Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 2923, doi. 10.1002/ajmg.a.38420
    By:
    • Luisin, Marion;
    • Chevreau, Julien;
    • Klein, Céline;
    • Naepels, Philippe;
    • Demeer, Bénédicte;
    • Mathieu‐Dramard, Michèle;
    • Jedraszak, Guillaume;
    • Gondry‐Jouet, Catherine;
    • Gondry, Jean;
    • Dieux‐Coeslier, Anne;
    • Morin, Gilles
    Publication type:
    Article

  • New intragenic rearrangements in non-Finnish mulibrey nanism.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2782, doi. 10.1002/ajmg.a.38381
    By:
    • Jobic, Florence;
    • Morin, Gilles;
    • Vincent‐Delorme, Catherine;
    • Cadet, Estelle;
    • Cabry, Rosalie;
    • Mathieu‐Dramard, Michèle;
    • Copin, Henri;
    • Rochette, Jacques;
    • Jedraszak, Guillaume
    Publication type:
    Article

  • Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 504, doi. 10.1002/ajmg.a.36882
    By:
    • Jedraszak, Guillaume;
    • Demeer, Bénédicte;
    • Mathieu‐Dramard, Michèle;
    • Andrieux, Joris;
    • Receveur, Aline;
    • Weber, Astrid;
    • Maye, Una;
    • Foulds, Nicola;
    • Temple, IK;
    • Crolla, John;
    • Alex‐Cordier, Marie‐Pierre;
    • Sanlaville, Damien;
    • Ewans, Lisa;
    • Wilson, Meredith;
    • Armstrong, Ruth;
    • Clarkson, Amanda;
    • Copin, Henri;
    • Morin, Gilles
    Publication type:
    Article

  • A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome.

    Published in:
    Clinical Genetics, 2021, v. 99, n. 2, p. 318, doi. 10.1111/cge.13878
    By:
    • Delvallée, Clarisse;
    • Nicaise, Samuel;
    • Antin, Manuela;
    • Leuvrey, Anne‐Sophie;
    • Nourisson, Elsa;
    • Leitch, Carmen C.;
    • Kellaris, Georgios;
    • Stoetzel, Corinne;
    • Geoffroy, Véronique;
    • Scheidecker, Sophie;
    • Keren, Boris;
    • Depienne, Christel;
    • Klar, Joakim;
    • Dahl, Niklas;
    • Deleuze, Jean‐François;
    • Génin, Emmanuelle;
    • Redon, Richard;
    • Demurger, Florence;
    • Devriendt, Koenraad;
    • Mathieu‐Dramard, Michèle
    Publication type:
    Article

  • Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.

    Published in:
    Clinical Genetics, 2020, v. 98, n. 1, p. 10, doi. 10.1111/cge.13746
    By:
    • Ranza, Emmanuelle;
    • Guimier, Anne;
    • Verloes, Alain;
    • Capri, Yline;
    • Marques, Charles;
    • Auclair, Martine;
    • Mathieu‐Dramard, Michèle;
    • Morin, Gilles;
    • Thevenon, Julien;
    • Faivre, Laurence;
    • Thauvin‐Robinet, Christel;
    • Innes, A. Micheil;
    • Dyment, David A.;
    • Vigouroux, Corinne;
    • Amiel, Jeanne
    Publication type:
    Article

  • FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations.

    Published in:
    Clinical Genetics, 2019, v. 96, n. 4, p. 317, doi. 10.1111/cge.13594
    By:
    • Ader, Flavie;
    • De Groote, Pascal;
    • Réant, Patricia;
    • Rooryck‐Thambo, Caroline;
    • Dupin‐Deguine, Delphine;
    • Rambaud, Caroline;
    • Khraiche, Diala;
    • Perret, Claire;
    • Pruny, Jean François;
    • Mathieu‐Dramard, Michèle;
    • Gérard, Marion;
    • Troadec, Yann;
    • Gouya, Laurent;
    • Jeunemaitre, Xavier;
    • Van Maldergem, Lionel;
    • Hagège, Albert;
    • Villard, Eric;
    • Charron, Philippe;
    • Richard, Pascale
    Publication type:
    Article

  • Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

    Published in:
    Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0178-8
    By:
    • Ehret, Julia K.;
    • Engels, Hartmut;
    • Cremer, Kirsten;
    • Becker, Jessica;
    • Zimmermann, Johannes P.;
    • Wohlleber, Eva;
    • Grasshoff, Ute;
    • Rossier, Eva;
    • Bonin, Michael;
    • Mangold, Elisabeth;
    • Bevot, Andrea;
    • Schön, Stefanie;
    • Heilmann-Heimbach, Stefanie;
    • Dennert, Nicola;
    • Mathieu-Dramard, Michèle;
    • Lacaze, Elodie;
    • Plessis, Ghislaine;
    • de Broca, Alain;
    • Jedraszak, Guillaume;
    • Röthlisberger, Benno
    Publication type:
    Article

  • 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

  • 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