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

Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome

USH1C相关Usher综合征的临床表现和分子遗传学

Aychoua, Nancy; de Guimarães, Thales A C; Ponnekanti, Manav B; Sasidharan, Sajin; Leung, Sum-Ping; Ibukun, Folahan Adesola; James, Naomi; Berry, Vanita; Mahroo, Omar A; Webster, Andrew R; Kalitzeos, Angelos; Michaelides, Michel

Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy

对一大群患有BBS1视网膜病变的患者进行遗传和表型特征分析

Romo-Aguas, Juan C; de Guimarāes, Thales A C; Kalitzeos, Angelos; Alfaro-Goldaracena, Maria Del Pilar; Baker, Rebecca A; Robson, Anthony G; Fujinami, Kaoru; Fujinami-Yokokawa, Yu; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel

Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR

对英国十万基因组计划中家族性渗出性玻璃体视网膜病变(FEVR)病例的分析提高了诊断率,并揭示了CTNND1杂合突变与FEVR的关联。

Sun, Dong; Henderson, Robert H; Clement, Emma; Michaelides, Michel; Kalitzeos, Angelos; Wright, Genevieve A; Mcloone, Eibhlin; Inglehearn, Chris; Poulter, James A; Toomes, Carmel

Repeatability of retinal vessel flicker responses in healthy individuals

健康个体视网膜血管闪烁反应的重复性

Kalitzeos, Angelos; Summers, Robert J; Heitmar, Rebekka

RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials

RHO相关性视网膜色素变性:遗传学、表型、自然史、功能分析和动物模型——为临床试验做准备

Daich Varela, Malena; Romo-Aguas, Juan Carlos; Guarascio, Rosellina; Ziaka, Kalliopi; Aguila, Monica; Hau, Kwan-Leong; Li, Yumei; Chen, Rui; Kalitzeos, Angelos; Robson, Anthony G; Baker, Rebecca A; Mahroo, Omar A; Webster, Andrew R; Chan, Henry; Lubock, Nathan B; Albert, Matthew L; Cheetham, Michael E; Michaelides, Michel

Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome

MYO7A相关Usher综合征的详细临床、眼科和遗传特征

Romo-Aguas, Juan C; de Guimarães, Thales A C; Kalitzeos, Angelos; Aychoua, Nancy; Tsika, Chrysanthi; Robson, Anthony G; Fujinami-Yokokawa, Yu; Fujinami, Kaoru; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel

Distance From the Foveal Center: A Method for the Calculation of Eccentric Fixation

距中央凹中心的距离:一种计算偏心注视的方法

de Guimaraes, Thales A C; Kalitzeos, Angelos; Bainbridge, James; Michaelides, Michel

A Long-Term Retrospective Natural History Study of EFEMP1-Associated Autosomal Dominant Drusen

EFEMP1相关常染色体显性遗传性玻璃膜疣的长期回顾性自然史研究

de Guimarães, Thales A C; Kalitzeos, Angelos; Mahroo, Omar A; van der Spuy, Jacqueline; Webster, Andrew R; Michaelides, Michel

Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia

CNGA3相关性全色盲患者中央凹锥体镶嵌结构的纵向成像

Katta, Mohamed; Georgiou, Michalis; Singh, Navjit; Kalitzeos, Angelos; Dubra, Alfredo; Carroll, Joseph; Michaelides, Michel

Changes in Waveguiding Cone Photoreceptors and Color Vision in Patients With Diabetes Mellitus

糖尿病患者波导锥体感光细胞和色觉的变化

Vaughan, Megan; Tay, Nicole; Kalitzeos, Angelos; Kane, Thomas; Singh, Nav; Zheng, Adrian; Dixit, Mira; Pal, Bishwanath; Rajendram, Ranjan; Balaskas, Konstantinos; Martin Gutierrez, Mari Pilar; Artiaga, Jose Carlo; Koutsocheras, Georgios; Adan, Khadra; Rodriguez-Carmona, Marisa; Barbur, John L; Michaelides, Michel; Patterson, Emily J