未登录 分享 收藏
分享 收藏
分享 收藏
Visual outcome following initiation of first injection versus after three monthly doses of aflibercept 2 mg for treatment naïve age-related macular degeneration to inform clinical trial designs: PRECISE Report No. 6 玻璃体腔注射雷珠单抗2 mg后，与注射3次每月1次的雷珠单抗2 mg相比，治疗初诊性年龄相关性黄斑变性的视觉结局：PRECISE报告第6号 Chandak, Swati; Gurudas, Sarega; Pakeer Muhammed, Raheeba; Keskin, Ayse; Thottarath, Sridevi; Ghanchi, Faruque; Grabowska, Anna; Talks, Stephen James; Pearce, Ian; Mckibbin, Martin; Kotagiri, Ajay; Menon, Geeta; Burton, Benjamin J. L.; Gale, Richard; Sivaprasad, Sobha 分享 收藏
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies CRB1-Associated遗传性视网膜营养不良患者血浆补体因子升高 Moekotte, Lude; Boer, Joke H. de; Hiddingh, Sanne; de Ligt, Aafke; Nguyen, Xuan-Thanh-An; Hoyng, Carel B.; Inglehearn, Chris F.; Mckibbin, Martin; Lamey, Tina M.; Thompson, Jennifer A.; Chen, Fred K.; Mclaren, Terri L.; Altalbishi, Alaa; Panneman, Daan M.; Boonen, Erica G. M.; Banfi, Sandro; Bocquet, Beatrice; Meunier, Isabelle; De Baere, Elfride; Koenekoop, Robert; Oldak, Monika; Rivolta, Carlo; Roberts, Lisa; Ramesar, Raj; Strupaite-Sileikiene, Rasa; Kohl, Susanne; Farrar, G. Jane; van Vugt, Marion; van Setten, Jessica; Roosing, Susanne; van den Born, L. Ingeborgh; Boon, Camiel J. F.; Genderen, Maria M. van; Kuiper, Jonas J. W. 分享 收藏
分享 收藏
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5-splice-site selection causing tissue-specific defects Atkinson, Robert; Georgiou, Maria; Yang, Chunbo; Szymanska, Katarzyna; Lahat, Albert; Vasconcelos, Elton J. R.; Ji, Yanlong; Molina, Marina Moya; Collin, Joseph; Queen, Rachel; Dorgau, Birthe; Watson, Avril; Kurzawa-Akanbi, Marzena; Laws, Ross; Saxena, Abhijit; Beh, Chia Shyan; Siachisumo, Chileleko; Goertler, Franziska; Karwatka, Magdalena; Davey, Tracey; Inglehearn, Chris F.; Mckibbin, Martin; Luehrmann, Reinhard; Steel, David H.; Elliott, David J.; Armstrong, Lyle; Urlaub, Henning; Ali, Robin R.; Grellscheid, Sushma-Nagaraja; Johnson, Colin A.; Mozaffari-Jovin, Sina; Lako, Majlinda 分享 收藏
分享 收藏
A Multi-Modal AI-Driven Cohort Selection Tool to Predict Suboptimal Non-Responders to Aflibercept Loading-Phase for Neovascular Age-Related Macular Degeneration: PRECISE Study Report 1 Chorev, Michal; Haderlein, Jonas; Chandra, Shruti; Menon, Geeta; Burton, Benjamin J. L.; Pearce, Ian; McKibbin, Martin; Thottarath, Sridevi; Karatsai, Eleni; Chandak, Swati; Kotagiri, Ajay; Talks, James; Grabowska, Anna; Ghanchi, Faruque; Gale, Richard; Hamilton, Robin; Antony, Bhavna; Garnavi, Rahil; Mareels, Iven; Giani, Andrea; Chong, Victor; Sivaprasad, Sobha 分享 收藏
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa Xuan-Thanh-An Nguyen; Thiadens, Alberta A. H. J.; Fiocco, Marta; Tan, Weijen; Mckibbin, Martin; Klaver, Caroline C. W.; Meester-Smoor, Magda A.; Van Cauwenbergh, Caroline; Strubbe, Ine; Vergaro, Andrea; Pott, Jan-Willem R.; Hoyng, Carel B.; Leroy, Bart P.; Zemaitiene, Reda; Khan, Kamron N.; Boon, Camiel J. F. 分享 收藏
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene Yahya, Samar; Smith, Claire E. L.; Poulter, James A.; McKibbin, Martin; Arno, Gavin; Ellingford, Jamie; Kampjarvi, Kati; Khan, Muhammad, I; Cremers, Frans P. M.; Hardcastle, Alison J.; Castle, Bruce; Steel, David H. W.; Webster, Andrew R.; Black, Graeme C.; El-Asrag, Mohammed E.; Ali, Manir; Toomes, Carmel; Inglehearn, Chris F. 分享 收藏
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen 影响交替编码的因子H样1蛋白的CFH基因的功能丧失突变导致显性早发性黄斑玻璃疣 Taylor, Rachel L.; Poulter, James A.; Downes, Susan M.; McKibbin, Martin; Khan, Kamron N.; Inglehearn, Chris F.; Webster, Andrew R.; Hardcastle, Alison J.; Michaelides, Michel; Bishop, Paul N.; Clark, Simon J.; Black, Graeme C.; Black, Graeme; Hall, Georgina; Ingram, Stuart; Taylor, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Webster, Andrew; Hardcastle, Alison; Plagnol, Vincent; Pontikos, Nikolas; Cheetham, Michael; Arno, Gavin; Fiorentino, Alessia; Inglehearn, Chris; Toomes, Carmel; Ali, Manir; McKibbin, Martin; Smith, Claire; Khan, Kamron; Downes, Susan; Yu, Jing; Halford, Stephanie; Broadgate, Suzanne; van Heyningen, Veronica 分享 收藏
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease RAX2的双等位基因序列和结构变异是常染色体隐性遗传性视网膜疾病的新原因 Van de Sompele, Stijn; Smith, Claire; Karali, Marianthi; Corton, Marta; Van Schil, Kristof; Peelman, Frank; Cherry, Timothy; Rosseel, Toon; Verdin, Hannah; Derolez, Julien; Van Laethem, Thalia; Khan, Kamron N.; McKibbin, Martin; Toomes, Carmel; Ali, Manir; Torella, Annalaura; Testa, Francesco; Jimenez, Belen; Simonelli, Francesca; De Zaeytijd, Julie; Van den Ende, Jenneke; Leroy, Bart P.; Coppieters, Frauke; Ayuso, Carmen; Inglehearn, Chris F.; Banfi, Sandro; De Baere, Elfride 分享 收藏
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene Felden, Julia; Baumann, Britta; Ali, Manir; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Casteels, Ingele; Garcia-Sandoval, Blanca; Jacobson, Samuel G.; Jurklies, Bernhard; Kellner, Ulrich; Kessel, Line; Lorenz, Birgit; McKibbin, Martin; Meunier, Isabelle; deRavel, Thorny; Rosenberg, Thomas; Ruether, Klaus; Vadala, Maria; Wissinger, Bernd; Stingl, Katarina; Kohl, Susanne 分享 收藏
Quantile regression analysis reveals widespread evidence for gene-environment or gene-gene interactions in myopia development 分位数回归分析揭示了近视发展中基因-环境或基因-基因相互作用的广泛证据 Pozarickij, Alfred; Williams, Cathy; Hysi, Pirro G.; Guggenheim, Jeremy A.; Aslam, Tariq; Barman, Sarah A.; Barrett, Jenny H.; Bishop, Paul; Blows, Peter; Bunce, Catey; Carare, Roxana O.; Chakravarthy, Usha; Chan, Michelle; Chua, Sharon Y. L.; Crabb, David P.; Cumberland, Philippa M.; Day, Alexander; Desai, Parul; Dhillon, Bal; Dick, Andrew D.; Egan, Cathy; Ennis, Sarah; Foster, Paul; Fruttiger, Marcus; Gallacher, John E. J.; Garway-Heath, David F.; Gibson, Jane; Gore, Dan; Hammond, Chris J.; Hardcastle, Alison; Harding, Simon P.; Hogg, Ruth E.; Keane, Pearse A.; Khaw, Sir Peng T.; Khawaja, Anthony P.; Lascaratos, Gerassimos; Lotery, Andrew J.; Mac Gillivray, Tom; Mackie, Sarah; Martin, Keith; McGaughey, Michelle; McGuinness, Bernadette; McKay, Gareth J.; McKibbin, Martin; Mitry, Danny; Moore, Tony; Morgan, James E.; Muthy, Zaynah A.; O'Sullivan, Eoin; Owen, Chris G.; Patel, Praveen; Paterson, Euan; Peto, Tunde; Petzold, Axel; Rahi, Jugnoo S.; Rudnikca, Alicja R.; Self, Jay; Sivaprasad, Sobha; Steel, David; Stratton, Irene; Strouthidis, Nicholas; Sudlow, Cathie; Thomas, Dhanes; Trucco, Emanuele; Tufail, Adnan; Vitart, Veronique; Vernon, Stephen A.; Viswanathan, Ananth C.; Williams, Katie; Woodside, Jayne, V; Yates, Max M.; Yip, Jennifer; Zheng, Yalin 分享 收藏
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease (vol 21, pg 1319, 2019) Van de Sompele, Stijn; Smith, Claire; Karali, Marianthi; Corton, Marta; Van Schil, Kristof; Peelman, Frank; Cherry, Timothy; Rosseel, Toon; Verdin, Hannah; Derolez, Julien; Van Laethem, Thalia; Khan, Kamron N.; McKibbin, Martin; Toomes, Carmel; Ali, Manir; Torella, Annalaura; Testa, Francesco; Jimenez, Belen; Simonelli, Francesca; De Zaeytijd, Julie; Van den Ende, Jenneke; Leroy, Bart P.; Coppieters, Frauke; Ayuso, Carmen; Inglehearn, Chris F.; Banfi, Sandro; De Baere, Elfride 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
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa Buskin, Adriana; Zhu, Lili; Chichagova, Valeria; Basu, Basudha; Mozaffari-Jovin, Sina; Dolan, David; Droop, Alastair; Collin, Joseph; Bronstein, Revital; Mehrotra, Sudeep; Farkas, Michael; Hilgen, Gerrit; White, Kathryn; Pan, Kuan-Ting; Treumann, Achim; Hallam, Dean; Bialas, Katarzyna; Chung, Git; Mellough, Carla; Ding, Yuchun; Krasnogor, Natalio; Przyborski, Stefan; Zwolinski, Simon; Al-Aama, Jumana; Alharthi, Sameer; Xu, Yaobo; Wheway, Gabrielle; Szymanska, Katarzyna; McKibbin, Martin; Inglehearn, Chris F.; Elliott, David J.; Lindsay, Susan; Ali, Robin R.; Steel, David H.; Armstrong, Lyle; Sernagor, Evelyne; Urlaub, Henning; Pierce, Eric; Luehrmann, Reinhard; Grellscheid, Sushma-Nagaraja; Johnson, Colin A.; Lako, Majlinda 分享 收藏
Characterizing Disease Burden and Progression of Geographic Atrophy Secondary to Age-Related Macular Degeneration Chakravarthy, Usha; Bailey, Clare C.; Johnston, Robert L.; McKibbin, Martin; Khan, Rehna S.; Mahmood, Sajjad; Downey, Louise; Dhingra, Narendra; Brand, Christopher; Brittain, Christopher J.; Willis, Jeffrey R.; Rabhi, Sarah; Muthutantri, Anushini; Cantrell, Ronald A. 分享 收藏
A clinical and molecular characterisation of CRB1-associated maculopathy Khan, Kamron N.; Robson, Anthony; Mahroo, Omar A. R.; Arno, Gavin; Inglehearn, Chris F.; Armengol, Monica; Waseem, Naushin; Holder, Graham E.; Carss, Keren J.; Raymond, Lucy F.; Webster, Andrew R.; Moore, Anthony T.; McKibbin, Martin; van Genderen, Maria M.; Poulter, James A.; Michaelides, Michel 分享 收藏
.png){kind=icon}
.png){kind=icon}
.png)
EYE.png)
.png){kind=icon}
分享.png){kind=icon}
收藏