FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations
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
Published in Clinical genetics (01.10.2019)
Published in Clinical genetics (01.10.2019)
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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Wieczorek, Dagmar, Bögershausen, Nina, Beleggia, Filippo, Steiner-Haldenstätt, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel, Thiele, Holger, Altmüller, Janine, Alanay, Yasemin, Kayserili, Hülya, Klein-Hitpass, Ludger, Böhringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray, Caliebe, Almuth, Chrzanowska, Krystyna, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O, Krajewska-Walasek, Malgorzata, Guillén-Navarro, Encarnación, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Özlem, López-González, Vanesa, Kuechler, Alma, Lyonnet, Stanislas, Mari, Francesca, Marozza, Annabella, Mathieu Dramard, Michèle, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Ozkinay, Ferda, Rauch, Anita, Renieri, Alessandra, Tinschert, Sigrid, Utine, G Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane, Nürnberg, Peter, Rahmann, Sven, Vermeesch, Joris, Lüdecke, Hermann-Josef, Zeschnigk, Michael, Wollnik, Bernd
Published in Human molecular genetics (20.12.2013)
Published in Human molecular genetics (20.12.2013)
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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S., Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B., Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A., Thauvin, Christel, Faivre, Laurence, Ross, M. Elizabeth, Rivière, Jean-Baptiste
Published in Nature genetics (01.10.2019)
Published in Nature genetics (01.10.2019)
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Functional classification of ATM variants in ataxia‐telangiectasia patients
Fiévet, Alice, Bellanger, Dorine, Rieunier, Guillaume, Dubois d'Enghien, Catherine, Sophie, Julia, Calvas, Patrick, Carriere, Jean‐Paul, Anheim, Mathieu, Castrioto, Anna, Flabeau, Olivier, Degos, Bertrand, Ewenczyk, Claire, Mahlaoui, Nizar, Touzot, Fabien, Suarez, Felipe, Hully, Marie, Roubertie, Agathe, Aladjidi, Nathalie, Tison, François, Antoine‐Poirel, Hélène, Dahan, Karine, Doummar, Diane, Nougues, Marie‐Christine, Ioos, Christine, Rougeot, Christelle, Masurel, Alice, Bourjault, Caroline, Ginglinger, Emmanuelle, Prieur, Fabienne, Siri, Aurélie, Bordigoni, Pierre, Nguyen, Karine, Philippe, Noel, Bellesme, Céline, Demeocq, François, Altuzarra, Cecilia, Mathieu‐Dramard, Michèle, Couderc, Fanny, Dörk, Thilo, Auger, Nathalie, Parfait, Béatrice, Abidallah, Khadija, Moncoutier, Virginie, Collet, Agnès, Stoppa‐Lyonnet, Dominique, Stern, Marc‐Henri
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants
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
Published in Clinical genetics (01.07.2020)
Published in Clinical genetics (01.07.2020)
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome
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, Poitou‐Bernert, Christine, Odent, Sylvie, Katsanis, Nicholas, Mandel, Jean‐Louis, Davis, Erica E., Dollfus, Hélène, Muller, Jean
Published in Clinical genetics (01.02.2021)
Published in Clinical genetics (01.02.2021)
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Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome
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, Rochette, Jacques
Published in Human mutation (01.10.2014)
Published in Human mutation (01.10.2014)
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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
Garde, Aurore, Guibaud, Laurent, Goldenberg, Alice, Petit, Florence, Dard, Rodolphe, Roume, Joelle, Mazereeuw‐Hautier, Juliette, Chassaing, Nicolas, Lacombe, Didier, Morice‐Picard, Fanny, Toutain, Annick, Arpin, Stéphanie, Boccara, Olivia, Touraine, Renaud, Blanchet, Patricia, Coubes, Christine, Willems, Marjolaine, Pinson, Lucile, Van Kien, Philippe Khau, Chiaverini, Christine, Giuliano, Fabienne, Alessandri, Jean‐Luc, Mathieu‐Dramard, Michèle, Morin, Gilles, Bursztejn, Anne‐Claire, Mignot, Cyril, Doummar, Diane, Di Rocco, Frederico, Cornaton, Jenny, Nicolas, Claire, Gautier, Elodie, Luu, Maxime, Bardou, Marc, Sorlin, Arthur, Philippe, Christophe, Edery, Patrick, Rossi, Massimiliano, Carmignac, Virginie, Thauvin‐Robinet, Christel, Vabres, Pierre, Faivre, Laurence
Published in Clinical genetics (01.05.2021)
Published in Clinical genetics (01.05.2021)
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Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation
Jobic, Florence, Lacot‐Leriche, Emilie, Piton, Amélie, Le Moing, Anne‐Gaëlle, Mathieu‐Dramard, Michèle, Costantini, Sara, Morin, Gilles, Jedraszak, Guillaume
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Autosomal recessive primary microcephaly due to ASPM mutations: An update
Létard, Pascaline, Drunat, Séverine, Vial, Yoann, Duerinckx, Sarah, Ernault, Anais, Amram, Daniel, Arpin, Stéphanie, Bertoli, Marta, Busa, Tiffany, Ceulemans, Berten, Desir, Julie, Doco‐Fenzy, Martine, Elalaoui, Siham Chafai, Devriendt, Koenraad, Faivre, Laurence, Francannet, Christine, Geneviève, David, Gérard, Marion, Gitiaux, Cyril, Julia, Sophie, Lebon, Sébastien, Lubala, Toni, Mathieu‐Dramard, Michèle, Maurey, Hélène, Metreau, Julia, Nasserereddine, Sanaa, Nizon, Mathilde, Pierquin, Geneviève, Pouvreau, Nathalie, Rivier‐Ringenbach, Clothilde, Rossi, Massimiliano, Schaefer, Elise, Sefiani, Abdelaziz, Sigaudy, Sabine, Sznajer, Yves, Tunca, Yusuf, Guilmin Crepon, Sophie, Alberti, Corinne, Elmaleh‐Bergès, Monique, Benzacken, Brigitte, Wollnick, Bernd, Woods, C. Geoffrey, Rauch, Anita, Abramowicz, Marc, El Ghouzzi, Vincent, Gressens, Pierre, Verloes, Alain, Passemard, Sandrine
Published in Human mutation (01.03.2018)
Published in Human mutation (01.03.2018)
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
Legendre, Marine, Abadie, Véronique, Attié‐Bitach, Tania, Philip, Nicole, Busa, Tiffany, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Lacombe, Didier, Toutain, Annick, Blesson, Sophie, Julia, Sophie, Martin‐Coignard, Dominique, Geneviève, David, Leheup, Bruno, Odent, Sylvie, Jouk, Pierre‐Simon, Mercier, Sandra, Faivre, Laurence, Vincent‐Delorme, Catherine, Francannet, Christine, Naudion, Sophie, Mathieu‐Dramard, Michèle, Delrue, Marie‐Ange, Goldenberg, Alice, Héron, Delphine, Parent, Philippe, Touraine, Renaud, Layet, Valérie, Sanlaville, Damien, Quélin, Chloé, Moutton, Sébastien, Fradin, Mélanie, Jacquette, Aurélia, Sigaudy, Sabine, Pinson, Lucile, Sarda, Pierre, Guerrot, Anne‐Marie, Rossi, Massimiliano, Masurel‐Paulet, Alice, El Chehadeh, Salima, Piguel, Xavier, Rodriguez‐Ballesteros, Montserrat, Ragot, Stéphanie, Lyonnet, Stanislas, Bilan, Frédéric, Gilbert‐Dussardier, Brigitte
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2017)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2017)
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New intragenic rearrangements in non‐Finnish mulibrey nanism
Jobic, Florence, Morin, Gilles, Vincent‐Delorme, Catherine, Cadet, Estelle, Cabry, Rosalie, Mathieu‐Dramard, Michèle, Copin, Henri, Rochette, Jacques, Jedraszak, Guillaume
Published in American journal of medical genetics. Part A (01.10.2017)
Published in American journal of medical genetics. Part A (01.10.2017)
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Natural history of Barth syndrome: a national cohort study of 22 patients
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
Published in Orphanet journal of rare diseases (08.05.2013)
Published in Orphanet journal of rare diseases (08.05.2013)
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Duplication of 10q24 locus: broadening the clinical and radiological spectrum
Holder-Espinasse, Muriel, Jamsheer, Aleksander, Escande, Fabienne, Andrieux, Joris, Petit, Florence, Sowinska-Seidler, Anna, Socha, Magdalena, Jakubiuk-Tomaszuk, Anna, Gerard, Marion, Mathieu-Dramard, Michèle, Cormier-Daire, Valérie, Verloes, Alain, Toutain, Annick, Plessis, Ghislaine, Jonveaux, Philippe, Baumann, Clarisse, David, Albert, Farra, Chantal, Colin, Estelle, Jacquemont, Sébastien, Rossi, Annick, Mansour, Sahar, Ghali, Neeti, Moncla, Anne, Lahiri, Nayana, Hurst, Jane, Pollina, Elena, Patch, Christine, Ahn, Joo Wook, Valat, Anne-Sylvie, Mezel, Aurélie, Bourgeot, Philippe, Zhang, David, Manouvrier-Hanu, Sylvie
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
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Journal Article
Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients
Lehalle, Daphné, Gordon, Christopher T., Oufadem, Myriam, Goudefroye, Géraldine, Boutaud, Lucile, Alessandri, Jean-Luc, Baena, Neus, Baujat, Geneviève, Baumann, Clarisse, Boute-Benejean, Odile, Caumes, Roseline, Decaestecker, Charles, Gaillard, Dominique, Goldenberg, Alice, Gonzales, Marie, Holder-Espinasse, Muriel, Jacquemont, Marie-Line, Lacombe, Didier, Manouvrier-Hanu, Sylvie, Marlin, Sandrine, Mathieu-Dramard, Michèle, Morin, Gilles, Pasquier, Laurent, Petit, Florence, Rio, Marlène, Smigiel, Robert, Thauvin-Robinet, Christel, Vasiljevic, Alexandre, Verloes, Alain, Malan, Valérie, Munnich, Arnold, de Pontual, Loïc, Vekemans, Michel, Lyonnet, Stanislas, Attié-Bitach, Tania, Amiel, Jeanne
Published in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, Piton, Amélie
Published in Journal of medical genetics (01.11.2014)
Published in Journal of medical genetics (01.11.2014)
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Journal Article
Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review
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
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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Journal Article
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Courraud, Jérémie, Chater-Diehl, Eric, Durand, Benjamin, Vincent, Marie, del Mar Muniz Moreno, Maria, Boujelbene, Imene, Drouot, Nathalie, Genschik, Loréline, Schaefer, Elise, Nizon, Mathilde, Gerard, Bénédicte, Abramowicz, Marc, Cogné, Benjamin, Bronicki, Lucas, Burglen, Lydie, Barth, Magalie, Charles, Perrine, Colin, Estelle, Coubes, Christine, David, Albert, Delobel, Bruno, Demurger, Florence, Passemard, Sandrine, Denommé, Anne-Sophie, Faivre, Laurence, Feger, Claire, Fradin, Mélanie, Francannet, Christine, Genevieve, David, Goldenberg, Alice, Guerrot, Anne-Marie, Isidor, Bertrand, Johannesen, Katrine M., Keren, Boris, Kibæk, Maria, Kuentz, Paul, Mathieu-Dramard, Michèle, Demeer, Bénédicte, Metreau, Julia, Steensbjerre Møller, Rikke, Moutton, Sébastien, Pasquier, Laurent, Pilekær Sørensen, Kristina, Perrin, Laurence, Renaud, Mathilde, Saugier, Pascale, Rio, Marlène, Svane, Joane, Thevenon, Julien, Tran Mau Them, Frédéric, Tronhjem, Cathrine Elisabeth, Vitobello, Antonio, Layet, Valérie, Auvin, Stéphane, Khachnaoui, Khaoula, Birling, Marie-Christine, Drunat, Séverine, Bayat, Allan, Dubourg, Christèle, El Chehadeh, Salima, Fagerberg, Christina, Mignot, Cyril, Guipponi, Michel, Bienvenu, Thierry, Herault, Yann, Thompson, Julie, Willems, Marjolaine, Mandel, Jean-Louis, Weksberg, Rosanna, Piton, Amélie
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
Nizon, Mathilde, Andrieux, Joris, Rooryck, Caroline, de Blois, Marie-Christine, Bourel-Ponchel, Emilie, Bourgois, Béatrice, Boute, Odile, David, Albert, Delobel, Bruno, Duban-Bedu, Bénédicte, Giuliano, Fabienne, Goldenberg, Alice, Grotto, Sarah, Héron, Delphine, Karmous-Benailly, Houda, Keren, Boris, Lacombe, Didier, Lapierre, Jean-Michel, Le Caignec, Cédric, Le Galloudec, Eric, Le Merrer, Martine, Le Moing, Anne-Gaëlle, Mathieu-Dramard, Michèle, Nusbaum, Sylvie, Pichon, Olivier, Pinson, Lucile, Raoul, Odile, Rio, Marlène, Romana, Serge, Roubertie, Agnès, Colleaux, Laurence, Turleau, Catherine, Vekemans, Michel, Nabbout, Rima, Malan, Valérie
Published in American journal of medical genetics. Part A (01.01.2015)
Published in American journal of medical genetics. Part A (01.01.2015)
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Journal Article
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients
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
Published in American journal of medical genetics. Part A (01.03.2015)
Published in American journal of medical genetics. Part A (01.03.2015)
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