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

Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity

CRB1视网膜病中新的基因型-表型相关性:来自与疾病严重程度相关的亚型和蛋白质结构域的启示

Rodriguez-Martinez, Ana Catalina; Méjécase, Cécile; Tailor-Hamblin, Vijay K; Higgins, Bethany E; Henderson, Robert H; Moosajee, Mariya

Metabolomic signatures suggest altered bile acid and energy metabolism in CRB1- retinopathies

代谢组学特征提示CRB1视网膜病变中胆汁酸和能量代谢发生改变

Rodriguez-Martinez, Ana Catalina; Nair, Neelima; Skinner, Jane; Welch, Ailsa A; Malka, Samantha; Moosajee, Mariya

Management of Charles Bonnet syndrome in routine eye care services

在常规眼科护理服务中对查尔斯·邦内综合征的管理

Jones, Lee; Ffytche, Dominic H; Moosajee, Mariya

Expanding the Clinical Spectrum of CRB1-Retinopathies: A Novel Genotype-Phenotype Correlation with Macular Dystrophy and Elevated Intraocular Pressure

拓展CRB1视网膜病变的临床谱:一种与黄斑营养不良和眼压升高相关的新型基因型-表型关联

Rodriguez-Martinez, Ana Catalina; Marmoy, Oliver R; Prise, Katrina L; Henderson, Robert H; Thompson, Dorothy A; Moosajee, Mariya

GLI2 and FLNB Define Periocular Morphoeic Basal Cell Carcinoma

GLI2 和 FLNB 定义眼周硬皮病基底细胞癌

Bladen, John C; Wang, Jun; Moosajee, Mariya; Rahman, Muhammad; Sangaralingam, Ajanthah; Gogna, Vijay K; Chelala, Claude; O'Toole, Edel A; Philpott, Michael P

Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review

非综合征型儿童青光眼与前节发育不良相关的遗传基础:叙述性综述

Cronbach, Nicola; Méjécase, Cécile; Moosajee, Mariya

Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa

视网膜色素变性最常见的常染色体遗传病因的性别分布

Hughes, Mark J; Lamey, Tina; Schiff, Elena R; Lin, Siying; Mclaren, Terri; Thompson, Jennifer; Stephenson, Kirk A J; Sergouniotis, Panagiotis; Pontikos, Nikolas; Daich Varela, Malena; Moosajee, Mariya; Vincent, Ajoy; Michaelides, Michel; Arno, Gavin; Webster, Andrew R; Chen, Fred K; Mahroo, Omar A

A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry

针对黑人非洲裔人群中常见的p.(Pro836Thr)变异体引起的CRB1视网膜病变的表型研究

Wong, Wendy M; Robson, Anthony G; Baker, Rebecca A; Arno, Gavin; Van Aerschot, Joseph; Lin, Siying; Moosajee, Mariya; Michaelides, Michel; Mahroo, Omar A; Webster, Andrew R

Elevated Visual Crowding in CRB1-Associated Retinopathies: Understanding Functional Visual Deficits Using Child-Friendly Computerized Testing

CRB1相关视网膜病变中视觉拥挤效应增强:利用儿童友好型计算机化测试了解功能性视觉缺陷

Rodriguez-Martinez, Ana Catalina; Tailor-Hamblin, Vijay K; Higgins, Bethany E; Jones, Pete R; Dekker, Tessa M; Henderson, Robert H; Greenwood, John A; Moosajee, Mariya

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype

PRX基因最后一个内含子异常剪接导致显性先天性白内障,但无神经系统表型

Reis, Linda M; Bellingham, James; Motta, Fabiana Louise; Jurkute, Neringa; Raskin, Salmo; Ramos, Fabiana; Mahroo, Omar A; Moosajee, Mariya; Arno, Gavin; Semina, Elena V