未登录 Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes Scheidecker, Sophie; Bar, Severine; Kroll-Hermi, Ariane; Delvallee, Clarisse; Rinaldi, Bruno; Korpioja, Anita; Geoffroy, Veronique; Schaefer, Elise; Secula, Samira; Jaeger, Catherine; Stoetzel, Corinne; Kassel, Olivier; Straehle, Uwe; Bertoli-Avella, Aida; Zonic, Emir; Lamouche, Jean-Baptiste; Zanlonghi, Xavier; Etard, Christelle; Muller, Jean; Rahikkala, Elisa; Friant, Sylvie; Dollfus, Helene 分享 收藏
Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput SequencingdA Multicenter Cohort Study Baer, Sarah; Schalk, Audrey; Miguet, Marguerite; Schaefer, Elise; El Chehadeh, Salima; Ginglinger, Emmanuelle; Martin, Anne de Saint; Warde, Marie-Therese Abi; Laugel, Vincent; de Feraudy, Yvan; Gauer, Lucas; Hirsch, Edouard; Boulay, Clotilde; Bansept, Claire; Bolocan, Anamaria; Kitadinis, Ismini; Gouronc, Aurelie; Gerard, Benedicte; Piton, Amelie; Scheidecker, Sophie 分享 收藏
Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy Gouronc, Aurelie; Javey, Elodie; Leuvrey, Anne-Sophie; Nourisson, Elsa; Friedmann, Sylvie; Reichert, Valerie; Derive, Nicolas; Francannet, Christine; Keren, Boris; Levy, Jonathan; Planes, Marc; Ruaud, Lyse; Amiel, Jeanne; Dollfus, Helene; Scheidecker, Sophie; Muller, Jean 分享 收藏
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Targeted next-generation sequencing in a large series of fetuses with severe renal diseases 大量严重肾脏疾病胎儿的靶向下一代测序 Jordan, Penelope; Dorval, Guillaume; Arrondel, Christelle; Moriniere, Vincent; Tournant, Carole; Audrezet, Marie-Pierre; Michel-Calemard, Laurence; Putoux, Audrey; Lesca, Gaethan; Labalme, Audrey; Whalen, Sandra; Loeuillet, Laurence; Martinovic, Jelena; Attie-Bitach, Tania; Bessieres, Bettina; Schaefer, Elise; Scheidecker, Sophie; Lambert, Laetitia; Beneteau, Claire; Patat, Olivier; Boute-Benejean, Odile; Molin, Arnaud; Guimiot, Fabien; Fontanarosa, Nicolas; Nizon, Mathilde; Lefebvre, Mathilde; Jeanpierre, Cecile; Saunier, Sophie; Heidet, Laurence 分享 收藏
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis Geoffroy, Veronique; Guignard, Thomas; Kress, Arnaud; Gaillard, Jean-Baptiste; Solli-Nowlan, Tor; Schalk, Audrey; Gatinois, Vincent; Dollfus, Helene; Scheidecker, Sophie; Muller, Jean 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
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress 蛋白酶体亚基PSMC3变体由于蛋白毒性应激而导致神经感觉综合征合并耳聋和白内障 Kroll-Hermi, Ariane; Ebstein, Frederic; Stoetzel, Corinne; Geoffroy, Veronique; Schaefer, Elise; Scheidecker, Sophie; Bar, Severine; Takamiya, Masanari; Kawakami, Koichi; Zieba, Barbara Agnieszka; Studer, Fouzia; Pelletier, Valerie; Speeg-Schatz, Claude; Laugel, Vincent; Lipsker, Dan; Sandron, Florian; McGinn, Steven; Boland, Anne; Deleuze, Jean-Francois; Kuhn, Lauriane; Chicher, Johana; Hammann, Philippe; Friant, Sylvie; Etard, Christelle; Krueger, Elke; Muller, Jean; Straehle, Uwe; Dollfus, Helene 分享 收藏
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish 新的IQCE变异证实了其在斑马鱼的后轴多趾中的作用并导致纤毛缺陷表型 Estrada-Cuzcano, Alejandro; Etard, Christelle; Delvallee, Clarisse; Stoetzel, Corinne; Schaefer, Elise; Scheidecker, Sophie; Geoffroy, Veronique; Schneider, Aline; Studer, Fouzia; Mattioli, Francesca; Chennen, Kirsley; Sigaudy, Sabine; Plassard, Damien; Poch, Olivier; Piton, Amelie; Strahle, Uwe; Muller, Jean; Dollfus, Helene 分享 收藏
Clinical, histological, and genetic characterization of PYROXD1-related myopathy PYROXD1-related肌病的临床，组织学和遗传特征 Lornage, Xaviere; Schartner, Vanessa; Balbueno, Ines; Biancalana, Valerie; Willis, Tracey; Echaniz-Laguna, Andoni; Scheidecker, Sophie; Quinlivan, Ros; Fardeau, Michel; Malfatti, Edoardo; Lannes, Beatrice; Sewry, Caroline; Romero, Norma B.; Laporte, Jocelyn; Bohm, Johann 分享 收藏
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy KARS突变导致严重的神经和神经感觉疾病伴视神经病变 Scheidecker, Sophie; Bar, Severine; Stoetzel, Corinne; Geoffroy, Veronique; Lannes, Beatrice; Rinaldi, Bruno; Fischer, Frederic; Becker, Hubert D.; Pelletier, Valerie; Pagan, Cecile; Acquaviva-Bourdain, Cecile; Kremer, Stephane; Mirande, Marc; Tranchant, Christine; Muller, Jean; Friant, Sylvie; Dollfus, Helene 分享 收藏
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond HCN1突变谱: 从新生儿癫痫性脑病到良性癫痫及其他 Marini, Carla; Porro, Alessandro; Rastetter, Agnes; Dalle, Carine; Rivolta, Ilaria; Bauer, Daniel; Oegema, Renske; Nava, Caroline; Parrini, Elena; Mei, Davide; Mercer, Catherine; Dhamija, Radhika; Chambers, Chelsea; Coubes, Christine; Thevenon, Julien; Kuentz, Paul; Julia, Sophie; Pasquier, Laurent; Dubourg, Christele; Carre, Wilfrid; Rosati, Anna; Melani, Federico; Pisano, Tiziana; Giardino, Maria; Innes, A. Micheil; Alembik, Yves; Scheidecker, Sophie; Santos, Manuela; Figueiroa, Sonia; Garrido, Cristina; Fusco, Carlo; Frattini, Daniele; Spagnoli, Carlotta; Binda, Anna; Granata, Tiziana; Ragona, Francesca; Freri, Elena; Franceschetti, Silvana; Canafoglia, Laura; Castellotti, Barbara; Gellera, Cinzia; Milanesi, Raffaella; Mancardi, Maria Margherita; Clark, Damien R.; Kok, Fernando; Helbig, Katherine L.; Ichikawa, Shoji; Sadler, Laurie; Neupauerova, Jana; Lassuthova, Petra; Sterbova, Katalin; Laridon, Annick; Brilstra, Eva; Koeleman, Bobby; Lemke, Johannes R.; Zara, Federico; Striano, Pasquale; Soblet, Julie; Smits, Guillaume; Deconinck, Nicolas; Barbuti, Andrea; DiFrancesco, Dario; LeGuern, Eric; Guerrini, Renzo; Santoro, Bina; Hamacher, Kay; Thiel, Gerhard; Moroni, Anna; DiFrancesco, Jacopo C.; Depienne, Christel 分享 收藏
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140 纤毛病患者的全基因组测序揭示了IFT140中新的复发性串联重复 Geoffroy, Veronique; Stoetzel, Corinne; Scheidecker, Sophie; Schaefer, Elise; Perrault, Isabelle; Baer, Severine; Kroll, Ariane; Delbarre, Marion; Antin, Manuela; Leuvrey, Anne-Sophie; Henry, Charline; Blanche, Helene; Decker, Eva; Kloth, Katja; Klaus, Guenter; Mache, Christoph; Martin-Coignard, Dominique; McGinn, Steven; Boland, Anne; Deleuze, Jean-Francois; Friant, Sylvie; Saunier, Sophie; Rozet, Jean-Michel; Bergmann, Carsten; Dollfus, Helene; Muller, Jean 分享 收藏
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
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues MTM1突变的女性携带者表现出广泛的临床和病理参与: 描绘诊断线索 Biancalana, Valerie; Scheidecker, Sophie; Miguet, Marguerite; Laquerriere, Annie; Romero, Norma B.; Stojkovic, Tanya; Neto, Osorio Abath; Mercier, Sandra; Voermans, Nicol; Tanner, Laura; Rogers, Curtis; Ollagnon-Roman, Elisabeth; Roper, Helen; Boutte, Celia; Ben-Shachar, Shay; Lornage, Xaviere; Vasli, Nasim; Schaefer, Elise; Laforet, Pascal; Pouget, Jean; Moerman, Alexandre; Pasquier, Laurent; Marcorelle, Pascale; Magot, Armelle; Kusters, Benno; Streichenberger, Nathalie; Tranchant, Christine; Dondaine, Nicolas; Schneider, Raphael; Gasnier, Claire; Calmels, Nadege; Kremer, Valerie; Nguyen, Karine; Perrier, Julie; Kamsteeg, Erik Jan; Carlier, Pierre; Carlier, Robert-Yves; Thompson, Julie; Boland, Anne; Deleuze, Jean-Francois; Fardeau, Michel; Zanoteli, Edmar; Eymard, Bruno; Laporte, Jocelyn 分享 收藏
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU 1q43q44微缺失综合征的遗传和表型解剖以及与ZBTB18和HNRNPU突变相关的神经发育表型 Depienne, Christel; Nava, Caroline; Keren, Boris; Heide, Solveig; Rastetter, AgnSs; Passemard, Sandrine; Chantot-Bastaraud, Sandra; Moutard, Marie-Laure; Agrawal, Pankaj B.; VanNoy, Grace; Stoler, Joan M.; Amor, David J.; de Villemeur, Thierry Billette; Doummar, Diane; Alby, Caroline; Cormier-Daire, Valerie; Garel, Catherine; Marzin, Pauline; Scheidecker, Sophie; de Saint-Martin, Anne; Hirsch, Edouard; Korff, Christian; Bottani, Armand; Faivre, Laurence; Verloes, Alain; Orzechowski, Christine; Burglen, Lydie; Leheup, Bruno; Roume, Joelle; Andrieux, Joris; Sheth, Frenny; Datar, Chaitanya; Parker, Michael J.; Pasquier, Laurent; Odent, Sylvie; Naudion, Sophie; Delrue, Marie-Ange; Le Caignec, Cedric; Vincent, Marie; Isidor, Bertrand; Renaldo, Florence; Stewart, Fiona; Toutain, Annick; Koehler, Udo; Hackl, Birgit; von Stulpnagel, Celina; Kluger, Gerhard; Moller, Rikke S.; Pal, Deb; Jonson, Tord; Soller, Maria; Verbeek, Nienke E.; van Haelst, Mieke M.; de Kovel, Carolien; Koeleman, Bobby; Monroe, Glen; van Haaften, Gijs; Study, D. D. D.; Attie-Bitach, Tania; Boutaud, Lucile; Heron, Delphine; Mignot, Cyril 分享 收藏
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi VPS15 (PIK3R4) 中的突变导致纤毛病并影响IFT20从顺式高尔基体的释放 Stoetzel, Corinne; Bar, Severine; De Craene, Johan-Owen; Scheidecker, Sophie; Etard, Christelle; Chicher, Johana; Reck, Jennifer R.; Perrault, Isabelle; Geoffroy, Veronique; Chennen, Kirsley; Strahle, Uwe; Hammann, Philippe; Friant, Sylvie; Dollfus, Helene 分享 收藏
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