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

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

CFAP410基因变异会导致一系列视网膜和骨骼表型。

Schmidt, Ryan E; Pohodich, Amy E; Birch, David; Jones, Kaylie; Lam, Byron L; Jung, Emily H; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C; Heon, Elise; Scholl, Hendrik P N; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I; Zein, Wadih; Brooks, Brian P; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S; Sylla, Mohamed M; Tsang, Stephen H; Alabek, Michelle; Sahel, Jose; Gorin, Michael B; van Genderen, Maria M; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L; Hull, Sarah; Duncan, Jacque L; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A; Yang, Paul; Pennesi, Mark E

Functional Vision Assessment Over 4 Years in USH2A Using the Veteran Affairs Low-Vision Visual Functioning Questionnaire

使用退伍军人事务部低视力视觉功能问卷对美国退伍军人事务部第二阶段医疗援助计划 (USH2A) 中的患者进行为期 4 年的功能性视觉评估

Parekh, Bela; Peck-Dimit, Nicholas; Duncan, Jacque L; Samarakoon, Lassana; Abalem, Maria Fernanda; Andrews, Chris A; Audo, Isabelle; Ayala, Allison R; Bradley, Chris; Cheetham, Janet K; Dagnelie, Gislin; Durham, Todd A; Huckfeldt, Rachel M; Lacy, Gabrielle D; Malbin, Brett; Michaelides, Michel; Musch, David C; Stingl, Katarina; Weng, Christina Y; Zmejkoski, Alex Z; Melia, Michele; Jayasundera, K Thiran

Progression of Dark-Adapted Visual Fields Over 3 Years in the Rate of Progression in USH2A-Related Retinal Degeneration (RUSH2A) Study

USH2A相关视网膜变性(RUSH2A)进展速度研究中暗适应视野3年进展情况

Birch, David G; Duncan, Jacque L; Samarakoon, Lassana; Melia, Michele; Audo, Isabelle; Ayala, Allison R; Cheetham, Janet K; Durham, Todd A; Huckfeldt, Rachel M; Maldonado, Ramiro; Michaelides, Michel; Pennesi, Mark E; Stingl, Katarina

Longitudinal Assessment of Cone Structure, Choriocapillaris, and Retinal Sensitivity in Choroideremia

脉络膜萎缩症患者视锥细胞结构、脉络膜毛细血管和视网膜敏感性的纵向评估

Shen, Liangbo Linus; Zhang, Yi; Wong, Jessica; Foote, Katharina G; Porco, Travis C; Wang, Ruikang K; Roorda, Austin; Duncan, Jacque L

High Resolution Imaging and Fixation Analysis of Eccentric Preferred Retinal Loci in Macular Diseases

黄斑疾病中偏心视网膜优先定位的高分辨率成像和注视分析

Kolawole, Olubayo U; Bensinger, Ethan; Wong, Jessica; Rinella, Nicholas; Foote, Katharina G; Zhou, Hao; Wang, Ruikang K; Duncan, Jacque L; Roorda, Austin

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

阐明遗传性视网膜疾病的遗传基础:从“对抗失明基金会临床联盟”基因调查中汲取的经验教训

Branham, Kari; Samarakoon, Lassana; Audo, Isabelle; Ayala, Allison R; Cheetham, Janet K; Daiger, Stephen P; Dhooge, Patty; Duncan, Jacque L; Durham, Todd A; Fahim, Abigail T; Huckfeldt, Rachel M; Hufnagel, Robert B; Kohl, Susanne; Maldonado, Ramiro S; Melia, Michele; Michaelides, Michel; Pennesi, Mark E; Sahel, José-Alain; Sallum, Juliana M Ferraz; Singh, Mandeep S; Sharon, Dror; Stepien, Kimberly; Jones, Kaylie; Weng, Christina Y

Long-Term Durability of Ciliary Neurotrophic Factor-Releasing Revakinagene Taroretcel-lwey in Individuals With Retinal Degenerative Disorders.

睫状神经营养因子释放剂Revakinagene Taroretcel-lwey在视网膜退行性疾病患者中的长期疗效

Kauper Konrad, Nystuen Arne, Orecchio Lisa, Gonzalez-Lopez Eugene, Lee Alice, Duncan Jacque L, Stewart Jay M, Aaberg Thomas Jr

XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa

XOLARIS:一项为期24个月的前瞻性自然史研究,纳入201名患有视网膜色素变性GTP酶调节因子相关X连锁视网膜色素变性的患者

MacLaren, Robert E; Duncan, Jacque L; Fischer, M Dominik; Lam, Byron L; Meunier, Isabelle; Pennesi, Mark E; Sankila, Eeva-Marja K; Gow, James A; Li, Jiang; Tsang, So-Fai

Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study

USH2A相关视网膜变性进展速度(RUSH2A)研究中4年的视力、全视野刺激阈值和视网膜电图检查

Birch, David G; Cheng, Peiyao; Maguire, Maureen G; Duncan, Jacque L; Ayala, Allison R; Cheetham, Janet K; Doucet, Nicole R; Durham, Todd A; Fahim, Abigail T; Ferris, Frederick L 3rd; Huckfeldt, Rachel M; Melia, Michele; Michaelides, Michel; Pennesi, Mark E; Sahel, José-Alain; Stingl, Katarina; Vincent, Ajoy; Weng, Christina Y