未登录.png)
分享.png)
收藏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 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 In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathiesBrun, Agnes; Yu, Xiangxiang; Obringer, Cathy; Ajoy, Daniel; Haser, Elodie; Stoetzel, Corinne; Roux, Michel J.; Messaddeq, Nadia; Dollfus, Helene; Marion, Vincent 分享 收藏 Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathyKARS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 Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root PatterningLaugel-Haushalter, Virginie; Morkmued, Supawich; Stoetzel, Corinne; Geoffroy, Veronique; Muller, Jean; Boland, Anne; Deleuze, Jean-Francois; Chennen, Kirsley; Pitiphat, Waranuch; Dollfus, Helene; Niederreither, Karen; Bloch-Zupan, Agnes; Pungchanchaikul, Patimaporn 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 Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis ImperfectaGasse, Barbara; Prasad, Megana; Delgado, Sidney; Huckert, Mathilde; Kawczynski, Marzena; Garret-Bernardin, Annelyse; Lopez-Cazaux, Serena; Bailleul-Forestier, Isabelle; Maniere, Marie-Cecile; Stoetzel, Corinne; Bloch-Zupan, Agnes; Sire, Jean-Yves 分享 收藏 A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-GolgiVPS15 (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 Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar (vol 7, 70, 2016)Bloch-Zupan, Agnes; Huckert, Mathilde; Stoetzel, Corinne; Meyer, Julia; Geoffroy, Veronique; Razafindrakoto, Rabisoa W.; Ralison, Saholy N.; Randrianaivo, Jean-Claude; Ralison, Georgette; Andriamasinoro, Rija O.; Famanampamaharane, Rija H.; Randrianazary, Solofomanantsoa E.; Ralimanana, Louise H.; Richards, Beatrice; Gorry, Philippe; Maniere, Marie-Cecile; Rasoamananjara, Jeanne A.; Alson, Simone Rakoto; Dollfus, Helene 分享 收藏 Detection of a Novel DSPP Mutation by NGS in a Population Isolate in MadagascarBloch-Zupan, Agnes; Huckert, Mathilde; Stoetzel, Corinne; Meyer, Julia; Geoffroy, Veronique; Razafindrakoto, Rabisoa W.; Ralison, Saholy N.; Randrianaivo, Jean-Claude; Ralison, Georgette; Andriamasinoro, Rija O.; Ramanampamaharana, Rija H.; Randrianazary, Solofomanantsoa E.; Richards, Beatrice; Gorry, Philippe; Maniere, Marie-Cecile; Alson, Simone Rakoto; Dollfus, Helene 分享 收藏 A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementPrasad, Megana K.; Geoffroy, Veronique; Vicaire, Serge; Jost, Bernard; Dumas, Michael; Le Gras, Stephanie; Switala, Marzena; Gasse, Barbara; Laugel-Haushalter, Virginie; Paschaki, Marie; Leheup, Bruno; Droz, Dominique; Dalstein, Amelie; Loing, Adeline; Grollemund, Bruno; Muller-Bolla, Michele; Lopez-Cazaux, Serena; Minoux, Maryline; Jung, Sophie; Obry, Frederic; Vogt, Vincent; Davideau, Jean-Luc; Davit-Beal, Tiphaine; Kaiser, Anne-Sophie; Moog, Ute; Richard, Beatrice; Morrier, Jean-Jacques; Duprez, Jean-Pierre; Odent, Sylvie; Bailleul-Forestier, Isabelle; Rousset, Monique Marie; Merametdijan, Laure; Toutain, Annick; Joseph, Clara; Giuliano, Fabienne; Dahlet, Jean-Christophe; Courval, Aymeric; El Alloussi, Mustapha; Laouina, Samir; Soskin, Sylvie; Guffon, Nathalie; Dieux, Anne; Doray, Berenice; Feierabend, Stephanie; Ginglinger, Emmanuelle; Fournier, Benjamin; Molla, Muriel de la Dure; Alembik, Yves; Tardieu, Corinne; Clauss, Francois; Berdal, Ariane; Stoetzel, Corinne; Maniere, Marie Cecile; Dollfus, Helene; Bloch-Zupan, Agnes 分享 收藏 Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome在分子证实的bardet-biedl综合征患者中，视锥系统功能障碍是罕见的视网膜变性形式Scheidecker, Sophie; Hull, Sarah; Perdomo, Yaumara; Studer, Fouzia; Pelletier, Valerie; Muller, Jean; Stoetzel, Corinne; Schaefer, Elise; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Holder, Graham E.; Hamel, Christian P.; Webster, Andrew R.; Moore, Anthony T.; Puech, Bernard; Dollfus, Helene J. 分享 收藏 Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with ChorioretinopathyTUBGCP4的突变通过常染色体隐性小头畸形伴脉络膜视网膜病变的 γ-微管蛋白环复合物改变微管组织Scheidecker, Sophie; Etard, Christelle; Haren, Laurence; Stoetzel, Corinne; Hull, Sarah; Arno, Gavin; Plagnol, Vincent; Drunat, Severine; Passemard, Sandrine; Toutain, Annick; Obringer, Cathy; Koob, Meriam; Geoffroy, Veronique; Marion, Vincent; Straehle, Uwe; Ostergaard, Pia; Verloes, Alain; Merdes, Andreas; Moore, Anthony T.; Dollfus, Helene 分享 收藏 Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfectaHuckert, Mathilde; Stoetzel, Corinne; Morkmued, Supawich; Laugel-Haushalter, Virginie; Geoffroy, Veronique; Muller, Jean; Clauss, Francois; Prasad, Megana K.; Obry, Frederic; Raymond, Jean Louis; Switala, Marzena; Alembik, Yves; Soskin, Sylvie; Mathieu, Eric; Hemmerle, Joseph; Weickert, Jean-Luc; Dabovic, Branka Brukner; Rifkin, Daniel B.; Dheedene, Annelies; Boudin, Eveline; Caluseriu, Oana; Cholette, Marie-Claude; Mcleod, Ross; Antequera, Reynaldo; Gelle, Marie-Paule; Coeuriot, Jean-Louis; Jacquelin, Louis-Frederic; Bailleul-Forestier, Isabelle; Maniere, Marie-Cecile; Van Hul, Wim; Bertola, Debora; Dolle, Pascal; Verloes, Alain; Mortier, Geert; Dollfus, Helene; Bloch-Zupan, Agnes 分享 收藏 Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromesHufnagel, Robert B.; Arno, Gavin; Hein, Nichole D.; Hersheson, Joshua; Prasad, Megana; Anderson, Yvonne; Krueger, Laura A.; Gregory, Louise C.; Stoetzel, Corinne; Jaworek, Thomas J.; Hull, Sarah; Li, Abi; Plagnol, Vincent; Willen, Christi M.; Morgan, Thomas M.; Prows, Cynthia A.; Hegde, Rashmi S.; Riazuddin, Saima; Grabowski, Gregory A.; Richardson, Rudy J.; Dieterich, Klaus; Huang, Taosheng; Revesz, Tamas; Martinez-Barbera, J. P.; Sisk, Robert A.; Jefferies, Craig; Houlden, Henry; Dattani, Mehul T.; Fink, John K.; Dollfus, Helene; Moore, Anthony T.; Ahmed, Zubair M. 分享 收藏 Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)Bardet-biedl综合征患者的外显子组测序确定了BBSome亚基BBIP1 (BBS18) 中的无效突变Scheidecker, Sophie; Etard, Christelle; Pierce, Nathan W.; Geoffroy, Veronique; Schaefer, Elise; Muller, Jean; Chennen, Kirsley; Flori, Elisabeth; Pelletier, Valerie; Poch, Olivier; Marion, Vincent; Stoetzel, Corinne; Straehle, Uwe; Nachury, Maxence V.; Dollfus, Helene 分享 收藏 Long-Term Follow-Up and Molecular Characterization of a Patient with a RECQL4 Mutation Spectrum DisorderFradin, M.; Merklen-Djafri, C.; Perrigouard, C.; Aral, B.; Muller, J.; Stoetzel, C.; Frouin, E.; Flori, E.; Doray, B.; Dollfus, H.; Lipsker, D. 分享 收藏 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
