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

Genetic Analysis of Choroideremia-Related Rab Escort Proteins.

脉络膜萎缩症相关Rab护送蛋白的基因分析

Xing Zhuo, Wu Fuguo, Cortes-Gomez Eduardo, Pao Annie, Gao Lingqiu, Douglas Avrium, Li Yichen, Spernyak Joseph A, Wong G William, Singh Prashant K, Wang Jianmin, Liu Song, Thanavala Yasmin, MacDonald Ian M, Mu Xiuqian, Yu Y Eugene

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性遗传成人发病型黄斑病变

Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A H J; Stephenson, Kirk A J; Sheri, Narin; Smirnov, Vasily; MacDonald, Ian M; Gregory-Evans, Kevin; Redmond, T Michael; De Zaeytijd, Julie; Leroy, Bart P; Bauwens, Miriam; De Baere, Elfride

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性成人发病型黄斑病变

Vooren Eline Van, den Broeck Filip Van, Mahieu Quinten, Geens Eline, Heetvelde Mattias Van, De Bruyne Marieke, de Sompele Stijn Van, Uppal Sheetal, Poliakov Eugenia, Dhaenens Claire-Marie, Gregory-Evans Cheryl Y, Hoefsloot Lies, Gonzalez Adriana Iglesias, Kohl Susanne, Zuleger Theresia, Demaret Tanguy, Tuupanen Sari, Ruys Joke, Os Luc Van, Platteau Elise, Jacob Julie, Vermeer Sascha, Postelmans Laurence, Dahan Karin, Maystadt Isabelle, Rasquin Florence, Thiadens Alberta A H J, Stephenson Kirk A J, Sheri Narin, Smirnov Vasily, MacDonald Ian M, Gregory-Evans Kevin, Redmond T Michael, De Zaeytijd Julie, Leroy Bart P, Bauwens Miriam, De Baere Elfride

Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling

FOXC1相关表型的多效性涉及纤毛形成和纤毛依赖性信号传导的改变

Havrylov, Serhiy; Chrystal, Paul; van Baarle, Suey; French, Curtis R; MacDonald, Ian M; Avasarala, Jagannadha; Rogers, R Curtis; Berry, Fred B; Kume, Tsutomu; Waskiewicz, Andrew J; Lehmann, Ordan J

Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel

克服X连锁视网膜色素变性疗法临床开发中的挑战:专家小组会议记录

Birch, David G; Cheetham, Janet K; Daiger, Stephen P; Hoyng, Carel; Kay, Christine; MacDonald, Ian M; Pennesi, Mark E; Sullivan, Lori S

PEX6 Mutations in Peroxisomal Biogenesis Disorders: An Usher Syndrome Mimic

过氧化物酶体生物合成障碍中的 PEX6 突变:一种 Usher 综合征模拟疾病

Benson, Matthew D; Papp, Kimberly M; Casey, Geoffrey A; Radziwon, Alina; St Laurent, Chris D; Doucette, Lance P; MacDonald, Ian M

Validating Ellipsoid Zone Area Measurement With Multimodal Imaging in Choroideremia

利用多模态成像技术验证脉络膜萎缩症中椭球体区面积的测量

Zhai, Yi; Oke, Sarah; MacDonald, Ian M

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

加拿大罕见病模型与机制(RDMM)网络:将研究不足的基因与模式生物联系起来

Boycott, Kym M; Campeau, Philippe M; Howley, Heather E; Pavlidis, Paul; Rogic, Sanja; Oriel, Christine; Berman, Jason N; Hamilton, Robert M; Hicks, Geoffrey G; Lipshitz, Howard D; Masson, Jean-Yves; Shoubridge, Eric A; Junker, Anne; Leroux, Michel R; McMaster, Christopher R; Michaud, Jaques L; Turvey, Stuart E; Dyment, David; Innes, A Micheil; van Karnebeek, Clara D; Lehman, Anna; Cohn, Ronald D; MacDonald, Ian M; Rachubinski, Richard A; Frosk, Patrick; Vandersteen, Anthony; Wozniak, Richard W; Pena, Izabella A; Wen, Xiao-Yan; Lacaze-Masmonteil, Thierry; Rankin, Catharine; Hieter, Philip

Quantification of RPE Changes in Choroideremia Using a Photoshop-Based Method

利用基于 Photoshop 的方法量化脉络膜萎缩症中 RPE 的变化

Zhai, Yi; Xu, Manlong; Dimopoulos, Ioannis S; Birch, David G; Bernstein, Paul S; Holt, Jenny; Kirn, David; Francis, Peter; MacDonald, Ian M

Perspectives on Gene Therapy: Choroideremia Represents a Challenging Model for the Treatment of Other Inherited Retinal Degenerations

基因治疗展望:脉络膜萎缩症为其他遗传性视网膜变性疾病的治疗提供了一个具有挑战性的模型

MacDonald, Ian M; Moen, Christopher; Duncan, Jacque L; Tsang, Stephen H; Cehajic-Kapetanovic, Jasmina; Aleman, Tomas S