日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health

探索 Usher 综合征 1B 型中的细胞外囊泡微 RNA:泪液来源的细胞外囊泡作为视网膜健康的潜在指标

Bervoets, Sander; Duijkers, Lonneke; Velde, Hedwig M; Corradi, Zelia; van Oosten, Edwin M; Suárez-Herrera, Nuria; Garanto, Alejandro; Moreno-Pelayo, Miguel A; Pennings, Ronald J E; Collin, Rob W J; Vázquez-Domínguez, Irene

Repeat Intraocular Sampling and Microbiological Testing in Infectious Endophthalmitis: A 27-Year Prospective Observational Study at an Australian Statewide Tertiary Referral Centre

感染性眼内炎的重复眼内取样和微生物学检测:澳大利亚州级三级转诊中心的一项为期27年的前瞻性观察研究

Kumaran, Pravena; Rhatigan, Maedbh; Chiu, Zelia; Lichtenstein, Jasmine; Allen, Penelope J; Dawkins, Rosie C H

BCOR Mutations Deregulate Cell Cycle and Hypoxic Adaptation Pathways in Retinoblastoma

BCOR 突变导致视网膜母细胞瘤细胞周期和缺氧适应通路失调

Zhang, Michelle G; Kuznetsoff, Jeffim N; Cetta, Natalie C; Salazar, Sebastian; Volonterio, Renata L; Kurtenbach, Stefan; Correa, Zelia M; Pelaez, Daniel; Harbour, J William

Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients

ABCA4相关性视网膜病变的基因型-表型相关性:来自西班牙245例患者队列的启示

Cobos, Estefania; Català-Mora, Jaume; Aguilera, Cinthia; Biarnés, Marc; Distefano, Laura; Antolín-Maté, María; Casaroli-Marano, Ricardo P; Alforja, Socorro; Barberán-Martínez, Pilar; Millán, José M; García-García, Gema; Santamaría, Juan Francisco; Yubero, Delia; Irigoyen, Cristina; Caminal, Josep Maria; Arias, Lluis; Corradi, Zelia; Cremers, Frans P M; Sau, Cristina; Jordan-Cumplido, Sara; Esteve-Garcia, Anna

Acute Cardiovascular Response to Ophthalmic Phenylephrine During Plaque Radiotherapy Insertion

斑块放射治疗植入期间对眼用苯肾上腺素的急性心血管反应

Balikov, Daniel A; Scott, Nathan L; Masters, Neil H; Correa, Zelia M

Intravitreal Bevacizumab plus Methotrexate for iris and ciliary body metastasis from lung cancer

玻璃体内注射贝伐珠单抗联合甲氨蝶呤治疗肺癌虹膜和睫状体转移

Bastos, Thaís Marino de Azeredo; Coelho, Igor Neves; Audi, Leticia; Chahud, Fernando; Folgosa, Marco; Correa, Zelia Maria; Jorge, Rodrigo

Early genetic evolution of driver mutations in uveal melanoma

葡萄膜黑色素瘤驱动基因突变的早期遗传演变

Dollar, James J; Decatur, Christina L; Weis, Ezekiel; Schefler, Amy C; Materin, Miguel A; Fuller, Timothy S; Skalet, Alison H; Reichstein, David A; Kim, Ivana K; Piggott, Kisha D; Demirci, Hakan; Aaberg, Thomas A Jr; Mruthyunjaya, Prithvi; Williams, Basil K Jr; Shildkrot, Eugene; Oliver, Scott C N; Char, Devron H; Capone, Antonio Jr; Mason, John O 3rd; Walter, Scott D; Altaweel, Michael M; Wells, Jill R; Gombos, Dan S; Duker, Jay S; Hovland, Peter G; Tsai, Tony; Javid, Cameron; Durante, Michael A; Covington, Kyle R; Zhang, Song; Correa, Zelia M; Harbour, J William

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

整合复合物亚基INTS6的破坏会导致神经发育障碍,并损害神经发生和突触发育。

Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A; van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui

Identification of targetable epigenetic vulnerabilities for uveal melanoma

识别葡萄膜黑色素瘤可靶向的表观遗传脆弱性

Yenisehirli, Gulum; Borges, Sebastian; Braun, Steffanie S; Zuniga, Ashley N; Quintana, Gabriela I; Kutsnetsoff, Jeffim N; Volonterio, Renata L; Rodriguez, Sara; Adis, Emily V; Lopez, Sofia; Dollar, James J; Stathias, Vasileios; Volmar, Claude-Henry; Karaca, Efe; Brothers, Shaun P; Bilbao, Daniel; Harbour, J William; Correa, Zelia M; Kurtenbach, Stefan