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

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings

ABCA4 与 PRPH2 相关性视网膜病变:临床和电生理学发现

Heath Jeffery, Rachael C; Thompson, Jennifer A; Lo, Johnny; Vincent, Andrea L; Patil, Minal; Bianco, Lorenzo; Battaglia Parodi, Maurizio; Ziccardi, Lucia; Dell'Aquila, Carmen; Barbano, Lucilla; Tang, Wei Chao; Chan, Choi Mun; Boon, Camiel J F; Hensman, Jonathan; Chen, Ta-Ching; Lin, Chien-Yu; Chen, Pei-Lung; Vincent, Ajoy; Tumber, Anupreet; Heon, Elise; Grigg, John R; Jamieson, Robyn V; Cornish, Elisa E; Nash, Benjamin M; Chou, Jeremy; Lamey, Tina M; McLenachan, Samuel; Roshandel, Danial; Fujinami, Kaoru; Chelva, Enid; McLaren, Terri L; Chen, Fred K

Expanding the Clinicoradiologic Phenotype of the CTSA-Associated Small Vessel Disease CARASAL: A Comparison With CADASIL

扩展CTSA相关小血管疾病CARASAL的临床放射学表型:与CADASIL的比较

Cerfontaine, Minne N; Gravesteijn, Gido; Hack, Remco J; Gesierich, Benno; Kruit, Mark C; Van Den Wijngaard, Ido R; Notting, Irene C; Nibbeling, Esther A R; Bugiani, Marianna; van der Knaap, Marjo S; Boon, Camiel J F; Duering, Marco; Rutten, Julie W; Lesnik Oberstein, Saskia A J

Choroidal vascular hyperpermeability patterns in central serous chorioretinopathy correlate with microperimetry: CERTAIN study report 4

中心性浆液性脉络膜视网膜病变中脉络膜血管高通透性模式与微视野检查结果相关:CERTAIN 研究报告 4

Chang-Wolf, Jennifer M; Pauleikhoff, Laurenz J B; Ruiters, Chabelie; Moll, Annette C; Schlingemann, Reinier O; van Dijk, Elon H C; Diederen, Roselie M H; Boon, Camiel J F

Neovascular age-related macular degeneration without drusen

无玻璃膜疣的新生血管性年龄相关性黄斑变性

Sirks, Marc J; van Dijk, Elon H C; Ghalayini, Husein; Bazdar, Somayeh; Yu, WeiFeng; Yzer, Suzanne; Martinez Ciriano, José P; Schlingemann, Reinier O; Diederen, Roselie M H; Boon, Camiel J F

Investigating the Role of Zebrafish Retinoschisin Homologs Rs1a and Rs1b During Retinal Development

研究斑马鱼视网膜裂蛋白同源物Rs1a和Rs1b在视网膜发育中的作用

van der Veen, Isa; Koster, Céline; Brink, Jacoline B Ten; Kamermans, Maarten; Boon, Camiel J F

Exploring retinal and choroidal characteristics on multimodal imaging in resolved central serous chorioretinopathy

利用多模态成像技术探索已消退的中心性浆液性脉络膜视网膜病变患者的视网膜和脉络膜特征

van den Tillaart, Femke M; Chang-Wolf, Jennifer M; Hoyng, Carel B; Diederen, Roselie M H; Schlingemann, Reinier O; Boon, Camiel J F; van Dijk, Elon H C; Yzer, Suzanne

Bile Acid Metabolism Changes in Patients with a CRB1-Associated Inherited Retinal Degeneration

CRB1相关遗传性视网膜变性患者的胆汁酸代谢改变

Moekotte, Lude; de Boer, Joke H; Hiddingh, Sanne; Gerritsen, Bram; Lintelmann, Jutta; Cecil, Alexander; van den Born, L Ingeborgh; Nguyen, Xuan-Thanh-An; Boon, Camiel J F; van Genderen, Maria M; Kuiper, Jonas J W

Genome-wide association and multi-omics analyses provide insights into the disease mechanisms of central serous chorioretinopathy

全基因组关联分析和多组学分析为中心性浆液性脉络膜视网膜病变的疾病机制提供了见解

Mori, Yuki; van Dijk, Elon H C; Miyake, Masahiro; Hosoda, Yoshikatsu; den Hollander, Anneke I; Yzer, Suzanne; Miki, Akiko; Chen, Li Jia; Ahn, Jeeyun; Takahashi, Ayako; Morino, Kazuya; Nakao, Shin-Ya; Hoyng, Carel B; Ng, Danny S C; Cen, Ling-Ping; Chen, Haoyu; Ng, Tsz Kin; Pang, Chi Pui; Joo, Kwangsic; Sato, Takehiro; Sakata, Yasuhiko; Tajima, Atsushi; Tabara, Yasuharu; Park, Kyu Hyung; Matsuda, Fumihiko; Yamashiro, Kenji; Honda, Shigeru; Nagasaki, Masao; Boon, Camiel J F; Tsujikawa, Akitaka

The glucocorticoid receptor is affected by its target ZBTB16 in a dissociated manner.

糖皮质激素受体受其靶标 ZBTB16 的影响是分离的

Galuh Sekar, Faught Erin, Klaassen Ingeborg, Koorneef Lisa L, Brinks Joost, van Dijk Elon H C, Elewaut Dirk, Schlingemann Reinier O, Schaaf Marcel J M, Boon Camiel J F, Meijer Onno C