未登录 Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1 Sallo, Ferenc B.; Dysli, Chantal; Holzer, Franz Josef; Ranza, Emmanuelle; Guipponi, Michel; Antonarakis, Stylianos E.; Munier, Francis L.; Bird, Alan C.; Schorderet, Daniel F.; Rossillion, Beatrice; Vaclavik, Veronika 分享 收藏
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Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders 遗传性视网膜疾病中缺失的基因缺陷在哪里？内含子和同义变体至少与4% 种CACNA1F-mediated遗传性视网膜疾病有关 Zeitz, Christina; Michiels, Christelle; Neuille, Marion; Friedburg, Christoph; Condroyer, Christel; Boyard, Fiona; Antonio, Aline; Bouzidi, Nassima; Milicevic, Diana; Veaux, Robin; Tourville, Aurore; Zoumba, Axelle; Seneina, Imene; Foussard, Marine; Andrieu, Camille; Preising, Markus N.; Blanchard, Steven; Saraiva, Jean-Paul; Mesrob, Lilia; Le Floch, Edith; Jubin, Claire; Meyer, Vincent; Blanche, Helene; Boland, Anne; Deleuze, Jean-Francois; Sharon, Dror; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; De Baere, Elfride; Leroy, Bart P.; Zanlonghi, Xavier; Casteels, Ingele; de Ravel, Thorny J.; Balikova, Irina; Koenekoop, Rob K.; Laffargue, Fanny; McLean, Rebecca; Gottlob, Irene; Bonneau, Dominique; Schorderet, Daniel F.; Munier, Francis L.; McKibbin, Martin; Prescott, Katrina; Pelletier, Valerie; Dollfus, Helene; Perdomo-Trujillo, Yaumara; Faure, Celine; Reiff, Charlotte; Wissinger, Bernd; Meunier, Isabelle; Kohl, Susanne; Banin, Eyal; Zrenner, Eberhart; Jurklies, Bernhard; Lorenz, Birgit; Sahel, Jose-Alain; Audo, Isabelle 分享 收藏
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Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147 Staubli, Andrina; Capatina, Nadejda; Fuhrer, Yvonne; Munier, Francis L.; Labs, Stephan; Schorderet, Daniel F.; Tiwari, Amit; Verrey, Francois; Heon, Elise; Cheng, Ching-Yu; Wong, Tien-Yin; Berger, Wolfgang; Camargo, Simone M. R.; Kloeckener-Gruissem, Barbara 分享 收藏
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Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies Xu, Mingchu; Xie, Yajing (Angela); Abouzeid, Hana; Gordon, Christopher T.; Fiorentino, Alessia; Sun, Zixi; Lehman, Anna; Osman, Ihab S.; Dharmat, Rachayata; Riveiro-Alvarez, Rosa; Bapst-Wicht, Linda; Babino, Darwin; Arno, Gavin; Busetto, Virginia; Zhao, Li; Li, Hui; Lopez-Martinez, Miguel A.; Azevedo, Liliana F.; Hubert, Laurence; Pontikos, Nikolas; Eblimit, Aiden; Lorda-Sanchez, Isabel; Kheir, Valeria; Plagnol, Vincent; Oufadem, Myriam; Soens, Zachry T.; Yang, Lizhu; Bole-Feysot, Christine; Pfundt, Rolph; Allaman-Pillet, Nathalie; Nitschke, Patrick; Cheetham, Michael E.; Lyonnet, Stanislas; Agrawal, Smriti A.; Li, Huajin; Pinton, Gaetan; Michaelides, Michel; Besmond, Claude; Li, Yumei; Yuan, Zhisheng; von Lintig, Johannes; Webster, Andrew R.; Le Hir, Herve; Stoilov, Peter; Amiel, Jeanne; Hardcastle, Alison J.; Ayuso, Carmen; Sui, Ruifang; Chen, Rui; Allikmets, Rando; Schorderet, Daniel F. 分享 收藏
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Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility Bedoni, Nicola; Haer-Wigman, Lonneke; Vaclavik, Veronika; Tran, Viet H.; Farinelli, Pietro; Balzano, Sara; Royer-Bertrand, Beryl; El-Asrag, Mohammed E.; Bonny, Olivier; Ikonomidis, Christos; Litzistorf, Yan; Nikopoulos, Konstantinos; Yioti, Georgia G.; Stefaniotou, Maria I.; McKibbin, Martin; Booth, Adam P.; Ellingford, Jamie M.; Black, Graeme C.; Toomes, Carmel; Inglehearn, Chris F.; Hoyng, Carel B.; Bax, Nathalie; Klaver, Caroline C. W.; Thiadens, Alberta A.; Murisier, Fabien; Schorderet, Daniel F.; Ali, Manir; Cremers, Frans P. M.; Andreasson, Sten; Munier, Francis L.; Rivolta, Carlo 分享 收藏
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Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy Gillespie, Rachel L.; Urquhart, Jill; Lovell, Simon C.; Biswas, Susmito; Parry, Neil R. A.; Schorderet, Daniel F.; Lloyd, I. Chris; Clayton-Smith, Jill; Black, Graeme C. 分享 收藏
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