未登录.png)
分享.png)
收藏分享 收藏 Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy
Antropoli, Alessio; Bianco, Lorenzo; Zanlonghi, Xavier; Benadji, Amine; Condroyer, Christel; Antonio, Aline; Navarro, Julien; Dhaenens, Claire-Marie; Sahel, Jose-Alain; Zeitz, Christina; Audo, Isabelle 分享 收藏 Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesScheidecker, 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 Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopiaErjavec, Elisa; Angee, Clementine; Hadjadj, Djihad; Passet, Bruno; David, Pierre; Kostic, Corinne; Dode, Emmanuel; Zanlonghi, Xavier; Cagnard, Nicolas; Nedelec, Brigitte; Crippa, Sylvain V.; Bole-Feysot, Christine; Zarhrate, Mohammed; Creuzet, Sophie; Castille, Johan; Vilotte, Jean-Luc; Calvas, Patrick; Plaisancie, Julie; Chassaing, Nicolas; Kaplan, Josseline; Rozet, Jean-Michel; Taie, Lucas Fares 分享 收藏 Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyIgelman, Austin D.; White, Elizabeth; Tayyib, Alaa; Everett, Lesley; Vincent, Ajoy; Heon, Elise; Zeitz, Christina; Michaelides, Michel; Mahroo, Omar A.; Katta, Mohamed; Webster, Andrew; Preising, Markus; Lorenz, Birgit; Khateb, Samer; Banin, Eyal; Sharon, Dror; Luski, Shahar; Van Den Broeck, Filip; Leroy, Bart Peter; De Baere, Elfride; Walraedt, Sophie; Stingl, Katarina; Kuehlewein, Laura; Kohl, Susanne; Reith, Milda; Fulton, Anne; Raghuram, Aparna; Meunier, Isabelle; Dollfus, Helene; Aleman, Tomas S.; Bedoukian, Emma C.; O'Neil, Erin C.; Krauss, Emily; Vincent, Andrea; Jordan, Charlotte; Iannaccone, Alessandro; Sen, Parveen; Sundaramurthy, Srilekha; Nagasamy, Soumittra; Balikova, Irina; Casteels, Ingele; Borooah, Shyamanga; Yassin, Shaden; Nagiel, Aaron; Schwartz, Hillary; Zanlonghi, Xavier; Gottlob, Irene; Mclean, Rebecca J.; Munier, Francis L.; Stephenson, Andrew; Sisk, Robert; Koenekoop, Robert; Wilson, Lorri B.; Fredrick, Douglas; Choi, Dongseok; Yang, Paul; Pennesi, Mark Edward 分享 收藏 分享 收藏 The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and DifferencesKruijt, Charlotte C.; Gradstein, Libe; Bergen, Arthur A.; Florijn, Ralph J.; Arveiler, Benoit; Lasseaux, Eulalie; Zanlonghi, Xavier; Bagdonaite-Bejarano, Laura; Fulton, Anne B.; Yahalom, Claudia; Blumenfeld, Anat; Perez, Yonatan; Birk, Ohad S.; de Wit, Gerard C.; Schalij-Delfos, Nicoline E.; van Genderen, Maria M. 分享 收藏 分享 收藏 Characterization of SSBP1-related optic atrophy and foveopathyMeunier, Isabelle; Bocquet, Beatrice; Defoort-Dhellemmes, Sabine; Smirnov, Vasily; Arndt, Carl; Picot, Marie Christine; Dollfus, Helene; Charif, Majida; Audo, Isabelle; Huguet, Helena; Zanlonghi, Xavier; Lenaers, Guy 分享 收藏 Retinitis Punctata Albescens and RLBP1-Allied Phenotypes Phenotype-Genotype Correlation and Natural History in the Aim of Gene TherapyBocquet, Beatrice; Trebki, Hicham El Alami; Roux, Anne Francoise; Labesse, Gilles; Brabet, Philippe; Arndt, Carl; Zanlonghi, Xavier; Defoort-Dhellemmes, Sabine; Hamroun, Dalil; Boulicot-Seguin, Celine; Lequeux, Leopoldine; Picot, Marie Christine; Huguet, Helena; Audo, Isabelle; Dhaenens, Claire Marie; Kalatzis, Vasiliki; Meunier, Isabelle 分享 收藏 Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathyGabrielle, Pierre-Henry; Faivre, Laurence; Audo, Isabelle; Zanlonghi, Xavier; Dollfus, Helene; Thiadens, Alberta A. H. J.; Zeitz, Christina; Mancini, Grazia M. S.; Perdomo, Yaumara; Mohand-Said, Saddek; Lize, Eleonore; Lhussiez, Vincent; Nandrot, Emeline F.; Acar, Niyazi; Creuzot-Garcher, Catherine; Sahel, Jose-Alain; Ansar, Muhammad; Thauvin-Robinet, Christel; Duplomb, Laurence; Da Costa, Romain 分享 收藏 CHM mutation spectrum and disease: An update at the time of human therapeutic trialsZeitz, Christina; Nassisi, Marco; Laurent-Coriat, Caroline; Andrieu, Camille; Boyard, Fiona; Condroyer, Christel; Demontant, Vanessa; Antonio, Aline; Lancelot, Marie-Elise; Frederiksen, Helen; Kloeckener-Gruissem, Barbara; El-Shamieh, Said; Zanlonghi, Xavier; Meunier, Isabelle; Roux, Anne-Francoise; Mohand-Said, Saddek; Sahel, Jose-Alain; Audo, Isabelle 分享 收藏 Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosaIMPG1的致病变异导致常染色体显性和常染色体隐性视网膜色素变性Olivier, Guillaume; Corton, Marta; Intartaglia, Daniela; Verbakel, Sanne K.; Sergouniotis, Panagiotis, I; Le Meur, Guylene; Dhaenens, Claire-Marie; Naacke, Helene; Avila-Fernandez, Almudena; Hoyng, Carel B.; Klevering, Jeroen; Bocquet, Beatrice; Roubertie, Agathe; Senechal, Audrey; Banfi, Sandro; Muller, Agnes; Hamel, Christian L.; Black, Graeme C.; Conte, Ivan; Roosing, Susanne; Zanlonghi, Xavier; Ayuso, Carmen; Meunier, Isabelle; Manes, Gael 分享 收藏 Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics通过整合基因组学和转录组学解决1054 Stargardt病先证者的ABCA4暗物质Khan, Mubeen; Cornelis, Stephanie S.; Del Pozo-Valero, Marta; Whelan, Laura; Runhart, Esmee H.; Mishra, Ketan; Bults, Femke; AlSwaiti, Yahya; AlTalbishi, Alaa; De Baere, Elfride; Banfi, Sandro; Banin, Eyal; Bauwens, Miriam; Ben-Yosef, Tamar; Boon, Camiel J. F.; van den Born, L. Ingeborgh; Defoort, Sabine; Devos, Aurore; Dockery, Adrian; Dudakova, Lubica; Fakin, Ana; Farrar, G. Jane; Sallum, Juliana Maria Ferraz; Fujinami, Kaoru; Gilissen, Christian; Glavac, Damjan; Gorin, Michael B.; Greenberg, Jacquie; Hayashi, Takaaki; Hettinga, Ymkje M.; Hoischen, Alexander; Hoyng, Carel B.; Hufendiek, Karsten; Jaegle, Herbert; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Kousal, Bohdan; Lamey, Tina M.; MacDonald, Ian M.; Matynia, Anna; McLaren, Terri L.; Mena, Marcela D.; Meunier, Isabelle; Miller, Rianne; Newman, Hadas; Ntozini, Buhle; Oldak, Monika; Pieterse, Marc; Podhajcer, Osvaldo L.; Puech, Bernard; Ramesar, Raj; Ruether, Klaus; Salameh, Manar; Salles, Mariana Vallim; Sharon, Dror; Simonelli, Francesca; Spital, Georg; Steehouwer, Marloes; Szaflik, Jacek P.; Thompson, Jennifer A.; Thuillier, Caroline; Tracewska, Anna M.; van Zweeden, Martine; Vincent, Andrea L.; Zanlonghi, Xavier; Liskova, Petra; Stoehr, Heidi; Roach, John N. De; Ayuso, Carmen; Roberts, Lisa; Weber, Bernhard H. F.; Dhaenens, Claire-Marie; Cremers, Frans P. M. 分享 收藏 Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathyPiro-Megy, Camille; Sarzi, Emmanuelle; Tarres-Sole, Aleix; Pequignot, Marie; Hensen, Fenna; Quiles, Melanie; Manes, Gael; Chakraborty, Arka; Senechal, Audrey; Bocquet, Beatrice; Cazevieille, Chantal; Roubertie, Agathe; Muller, Agnes; Charif, Majida; Goudenege, David; Lenaers, Guy; Wilhelm, Helmut; Kellner, Ulrich; Weisschuh, Nicole; Wissinger, Bernd; Zanlonghi, Xavier; Hamel, Christian; Spelbrink, Johannes N.; Sola, Maria; Delettre, Cecile 分享 收藏 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 Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR geneMonferme, Solene; Lasseaux, Eulalie; Duncombe-Poulet, Catherine; Hamel, Christian; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Zanlonghi, Xavier; Dollfus, Helene; Perdomo, Yaurama; Bonneau, Dominique; Korobelnik, Jean-Francois; Plaisant, Claudio; Michaud, Vincent; Pennamen, Perrine; Rooryck-Thambo, Caroline; Morice-Picard, Fanny; Paya, Clement; Arveiler, Benoit 分享 收藏 Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analysesVache, Christel; Torriano, Simona; Faugere, Valerie; Erkilic, Nejla; Baux, David; Garcia-Garcia, Gema; Hamel, Christian P.; Meunier, Isabelle; Zanlonghi, Xavier; Koenig, Michel; Kalatzis, Vasiliki; Roux, Anne-Francoise 分享 收藏 MERTK mutation update in inherited retinal diseasesAudo, Isabelle; Mohand-Said, Saddek; Boulanger-Scemama, Elise; Zanlonghi, Xavier; Condroyer, Christel; Demontant, Vanessa; Boyard, Fiona; Antonio, Aline; Mejecase, Cecile; El Shamieh, Said; Sahel, Jose-Alain; Zeitz, Christina 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
