Works matching AU Mathieu‐Dramard, Michèle

Results: 15

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

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

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

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

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

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