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MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression (vol 26, pg 2062, 2017) MED12相关的XLID疾病与即刻早期基因（IEGs）的表达量呈剂量依赖关系（vol 26, pg 2062, 2017）。 Donnio, Lise-Marie; Bidon, Baptiste; Hashimoto, Satoru; May, Melanie; Epanchintsev, Alexey; Ryan, Colm; Allen, William; Hackett, Anna; Gecz, Jozef; Skinner, Cindy; Stevenson, Roger E.; de Brouwer, Arjan P. . M.; Coutton, Charles; Francannet, Christine; Jouk, Pierre-Simon; Schwartz, Charles E.; Egly, Jean-Marc 分享 收藏
PIGN encephalopathy: Characterizing the epileptology Bayat, Allan; Valles-Ibanez, Guillem; Pendziwiat, Manuela; Knaus, Alexej; Alt, Kerstin; Biamino, Elisa; Bley, Annette; Calvert, Sophie; Carney, Patrick; Caro-Llopis, Alfonso; Ceulemans, Berten; Cousin, Janice; Davis, Suzanne; Portes, Vincent; Edery, Patrick; England, Eleina; Ferreira, Carlos; Freeman, Jeremy; Gener, Blanca; Gorce, Magali; Heron, Delphine; Hildebrand, Michael S.; Jezela-Stanek, Aleksandra; Jouk, Pierre-Simon; Keren, Boris; Kloth, Katja; Kluger, Gerhard; Kuhn, Marius; Lemke, Johannes R.; Li, Hong; Martinez, Francisco; Maxton, Caroline; Mefford, Heather C.; Merla, Giuseppe; Mierzewska, Hanna; Muir, Alison; Monfort, Sandra; Nicolai, Joost; Norman, Jennifer; O'Grady, Gina; Oleksy, Barbara; Orellana, Carmen; Orec, Laura Elena; Peinhardt, Charlotte; Pronicka, Ewa; Rosello, Monica; Santos-Simarro, Fernando; Schwaibold, Eva Maria Christina; Stegmann, Alexander P. A.; Stumpel, Constance T.; Szczepanik, Elzbieta; Terczynska, Iwona; Thevenon, Julien; Tzschach, Andreas; Van Bogaert, Patrick; Vittorini, Roberta; Walsh, Sonja; Weckhuysen, Sarah; Weissman, Barbara; Wolfe, Lynne; Reymond, Alexandre; De Nittis, Pasquelena; Poduri, Annapurna; Olson, Heather; Striano, Pasquale; Lesca, Gaetan; Scheffer, Ingrid E.; Moller, Rikke S.; Sadleir, Lynette G. 分享 收藏
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations Le Tanno, Pauline; Latypova, Xenia; Rendu, John; Faure, Julien; Bourg, Veronique; Gauthier, Marjolaine; Billy-Lopez, Gipsy; Jouk, Pierre-Simon; Dieterich, Klaus 分享 收藏
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita 未诊断的多发性先天性关节畸形的表型谱和基因组学 Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jerome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Heron, Delphine; Viot, Geraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Celine; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valerie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Helene; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andree; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Megarbane, Andre; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quelin, Chloe; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michele; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith 分享 收藏
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy 80例复杂心脏畸形和/或异位胎儿的下一代测序 Liu, Hui; Giguet-Valard, Anna-Gaelle; Simonet, Thomas; Szenker-Ravi, Emmanuelle; Lambert, Laetitia; Vincent-Delorme, Catherine; Scheidecker, Sophie; Fradin, Melanie; Morice-Picard, Fanny; Naudion, Sophie; Ciorna-Monferrato, Viorica; Colin, Estelle; Fellmann, Florence; Blesson, Sophie; Jouk, Pierre-Simon; Francannet, Christine; Petit, Florence; Moutton, Sebastien; Lehalle, Daphne; Chassaing, Nicolas; El Zein, Loubna; Bazin, Anne; Beneteau, Claire; Attie-Bitach, Tania; Hanu, Sylvie M.; Brechard, Marie-Pierre; Chiesa, Jean; Pasquier, Laurent; Rooryck-Thambo, Caroline; Van Maldergem, Lionel; Cabrol, Christelle; El Chehadeh, Salima; Vasiljevic, Alexandre; Isidor, Bertrand; Abel, Carine; Thevenon, Julien; Di Filippo, Sylvie; Vigouroux-Castera, Adeline; Attia, Jocelyne; Quelin, Chloe; Odent, Sylvie; Piard, Juliette; Giuliano, Fabienne; Putoux, Audrey; Khau Van Kien, Philippe; Yardin, Catherine; Touraine, Renaud; Reversade, Bruno; Bouvagnet, Patrice 分享 收藏
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Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability 马法样习惯性和智力障碍患者染色质重塑相关基因的从头变异过多 Chevarin, Martin; Duffourd, Yannis; A. Barnard, Rebecca; Moutton, Sebastien; Lecoquierre, Francois; Daoud, Fatma; Kuentz, Paul; Cabret, Caroline; Thevenon, Julien; Gautier, Elodie; Callier, Patrick; St-Onge, Judith; Jouan, Thibaud; Lacombe, Didier; Delrue, Marie Ange; Goizet, Cyril; Morice-Picard, Fanny; Van-Gils, Julien; Munnich, Arnold; Lyonnet, Stanislas; Cormier-Daire, Valerie; Baujat, Genevieve; Holder, Muriel; Petit, Florence; Leheup, Bruno; Odent, Sylvie; Jouk, Pierre-Simon; Lopez, Gipsy; Genevieve, David; Collignon, Patrick; Martin-Coignard, Dominique; Jacquette, Aurelia; Perrin, Laurence; Putoux, Audrey; Sarrazin, Elisabeth; Amarof, Khadija; Missotte, Isabelle; Coubes, Christine; Jagadeesh, Sujatha; Lapi, Elisabetta; Demurger, Florence; Goldenberg, Alice; Doco-Fenzy, Martine; Mignot, Cyril; Heron, Delphine; Jean-Marcais, Nolwenn; Masurel, Alice; El Chehadeh, Salima; Marle, Nathalie; Huet, Frederic; Binquet, Christine; Collod-Beroud, Gwenaelle; Arnaud, Pauline; Hanna, Nadine; Boileau, Catherine; Jondeau, Guillaume; Olaso, Robert; Lechner, Doris; Poe, Charlotte; Assoum, Mirna; Carmignac, Virginie; Duplomb, Laurence; Tran Mau-Them, Frederic; Philippe, Christophe; Vitobello, Antonio; Bruel, Ange-Line; Boland, Anne; Deleuze, Jean-Francois; Thauvin-Robinet, Christel; Riviere, Jean-Baptiste; O'Roak, Brian J.; Faivre, Laurence 分享 收藏
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants ofRBM8A Boussion, Simon; Escande, Fabienne; Jourdain, Anne-Sophie; Smol, Thomas; Brunelle, Perrine; Duhamel, Celine; Alembik, Yves; Attie-Bitach, Tania; Baujat, Genevieve; Bazin, Anne; Bonniere, Maryse; Carassou, Philippe; Carles, Dominique; Devisme, Louise; Goizet, Cyril; Goldenberg, Alice; Grotto, Sarah; Guichet, Agnes; Jouk, Pierre-Simon; Loeuillet, Laurence; Mechler, Charlotte; Michot, Caroline; Pelluard, Fanny; Putoux, Audrey; Whalen, Sandra; Ghoumid, Jamal; Manouvrier-Hanu, Sylvie; Petit, Florence 分享 收藏
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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features 进一步描述59名法国男性患者的MECP2重复综合征表型，特别关注形态学和神经学特征 Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christele; Julia, Sophie; Sarret, Catherine; Remerand, Ganaelle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, Odile; David, Albert; Isidor, Bertrand; Vigneron, Jacqueline; Leheup, Bruno; Lambert, Laetitia; Philippe, Christophe; Beri-Dexheimer, Mylene; Cuisset, Jean-Marie; Andrieux, Joris; Plessis, Ghislaine; Toutain, Annick; Guibaud, Laurent; Cormier-Daire, Valerie; Rio, Marlene; Bonnefont, Jean-Paul; Echenne, Bernard; Journel, Hubert; Burglen, Lydie; Chantot-Bastaraud, Sandrine; Bienvenu, Thierry; Baumann, Clarisse; Perrin, Laurence; Drunat, Severine; Jouk, Pierre-Simon; Dieterich, Klaus; Devillard, Francoise; Lacombe, Didier; Philip, Nicole; Sigaudy, Sabine; Moncla, Anne; Missirian, Chantal; Badens, Catherine; Perreton, Nathalie; Thauvin-Robinet, Christel; AChro-Puce, Reseau; Pedespan, Jean-Michel; Rooryck, Caroline; Goizet, Cyril; Vincent-Delorme, Catherine; Duban-Bedu, Benedicte; Bahi-Buisson, Nadia; Afenjar, Alexandra; Maincent, Kim; Heron, Delphine; Alessandri, Jean-Luc; Martin-Coignard, Dominique; Lesca, Gaetan; Rossi, Massimiliano; Raynaud, Martine; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Coutton, Charles; Satre, Veronique; Le Caignec, Cedric; Malan, Valerie; Romana, Serge; Keren, Boris; Tabet, Anne-Claude; Kremer, Valerie; Scheidecker, Sophie; Vigouroux, Adeline; Lackmy-Port-Lis, Marilyn; Sanlaville, Damien; Till, Marianne; Carneiro, Maryline; Gilbert-Dussardier, Brigitte; Willems, Marjolaine; Van Esch, Hilde; Des Portes, Vincent; El Chehadeh, Salima 分享 收藏
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human Coutton, Charles; Vargas, Alexandra S.; Amiri-Yekta, Amir; Kherraf, Zine-Eddine; Ben Mustapha, Selima Fourati; Le Tanno, Pauline; Wambergue-Legrand, Clementine; Karaouzene, Thomas; Martinez, Guillaume; Crouzy, Serge; Daneshipour, Abbas; Hosseini, Seyedeh Hanieh; Mitchell, Valerie; Halouani, Lazhar; Marrakchi, Ouafi; Makni, Mounir; Latrous, Habib; Kharouf, Mahmoud; Deleuze, Jean-Francois; Boland, Anne; Hennebicq, Sylviane; Satre, Veronique; Jouk, Pierre-Simon; Thierry-Mieg, Nicolas; Conne, Beatrice; Dacheux, Denis; Landrein, Nicolas; Schmitt, Alain; Stouvenel, Laurence; Lores, Patrick; El Khouri, Elma; Bottari, Serge P.; Faure, Julien; Wolf, Jean-Philippe; Pernet-Gallay, Karin; Escoffier, Jessica; Gourabi, Hamid; Robinson, Derrick R.; Nef, Serge; Dulioust, Emmanuel; Zouari, Raoudha; Bonhivers, Melanie; Toure, Aminata; Arnoult, Christophe; Ray, Pierre F. 分享 收藏
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays Legendre, Marine; Rodriguez-Ballesteros, Montserrat; Rossi, Massimiliano; Abadie, Veronique; Amiel, Jeanne; Revencu, Nicole; Blanchet, Patricia; Brioude, Frederic; Delrue, Marie-Ange; Doubaj, Yassamine; Sefiani, Abdelaziz; Francannet, Christine; Holder-Espinasse, Muriel; Jouk, Pierre-Simon; Julia, Sophie; Melki, Judith; Mur, Sebastien; Naudion, Sophie; Fabre-Teste, Jennifer; Busa, Tiffany; Stamm, Stephen; Lyonnet, Stanislas; Attie-Bitach, Tania; Kitzis, Alain; Gilbert-Dussardier, Brigitte; Bilan, Frederic 分享 收藏
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS 11例hermansky-pudlak 5型综合征，轻度HPS患者的临床分子分析 Michaud, Vincent; Lasseaux, Eulalie; Plaisant, Claudio; Verloes, Alain; Perdomo-Trujillo, Yaumara; Hamel, Christian; Elcioglu, Nursel H.; Leroy, Bart; Kaplan, Josseline; Jouk, Pierre-Simon; Lacombe, Didier; Fergelot, Patricia; Morice-Picard, Fanny; Arveiler, Benoit 分享 收藏
Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis Abiusi, Emanuela; D'Alessandro, Manuela; Dieterich, Klaus; Quevarec, Loic; Turczynski, Sandrina; Valfort, Aurore-Cecile; Mezin, Paulette; Jouk, Pierre Simon; Gut, Marta; Gut, Ivo; Bessereau, Jean Louis; Melki, Judith 分享 收藏
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features Bidart, Marie; El Atifi, Michele; Miladi, Sarra; Rendu, John; Satre, Veronique; Ray, Pierre F.; Bosson, Caroline; Devillard, Francoise; Lehalle, Daphne; Malan, Valerie; Amiel, Jeanne; Mencarelli, Maria Antonietta; Baldassarri, Margherita; Renieri, Alessandra; Clayton-Smith, Jill; Vieville, Gaelle; Thevenon, Julien; Amblard, Florence; Berger, Francois; Jouk, Pierre-Simon; Coutton, Charles 分享 收藏
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression Donnio, Lise-Marie; Bidon, Baptiste; Hashimoto, Satoru; May, Melanie; Epanchintsev, Alexey; Ryan, Colm; Allen, William; Hackett, Anna; Gecz, Jozef; Skinner, Cindy; Stevenson, Roger E.; de Brouwer, Arjan P. M.; Coutton, Charles; Francannet, Christine; Jouk, Pierre-Simon; Schwartz, Charles E.; Egly, Jean-Marc 分享 收藏
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