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

Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy

在一些CRX相关视网膜病变病例中,超广角自发荧光检查观察到双灶性视网膜变性。

Lin, Siying; Arno, Gavin; Robson, Anthony G; Schiff, Elena R; Mohamed, Moin D; Michaelides, Michel; Webster, Andrew R; Mahroo, Omar A

Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder

CABP4相关锥杆突触紊乱患者的OCT检查结果异常

Tan, Jit Kai; Arno, Gavin; Josifova, Dragana; Mohamed, Moin D; Mahroo, Omar A

Retinal thickness measurements in sickle cell patients with HbSS and HbSC genotype

镰状细胞病患者视网膜厚度测量(HbSS 和 HbSC 基因型)

Lim, Wei S; Magan, Tejal; Mahroo, Omar A; Hysi, Pirro G; Helou, Juliana; Mohamed, Moin D

Intranasal administration of RSV antigen-expressing MCMV elicits robust tissue-resident effector and effector memory CD8+ T cells in the lung

鼻腔内注射表达 RSV 抗原的 MCMV 可在肺中诱发强大的组织驻留效应细胞和效应记忆 CD8+ T 细胞

K M Morabito, T R Ruckwardt, A J Redwood, S M Moin, D A Price, B S Graham

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

TSPAN12基因突变导致常染色体显性遗传性家族性渗出性玻璃体视网膜病变

Poulter, James A; Ali, Manir; Gilmour, David F; Rice, Aine; Kondo, Hiroyuki; Hayashi, Kenshi; Mackey, David A; Kearns, Lisa S; Ruddle, Jonathan B; Craig, Jamie E; Pierce, Eric A; Downey, Louise M; Mohamed, Moin D; Markham, Alexander F; Inglehearn, Chris F; Toomes, Carmel

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

SLC38A8基因的隐性突变会导致黄斑发育不全和视神经错位,但不会引起白化病。

Poulter, James A; Al-Araimi, Musallam; Conte, Ivan; van Genderen, Maria M; Sheridan, Eamonn; Carr, Ian M; Parry, David A; Shires, Mike; Carrella, Sabrina; Bradbury, John; Khan, Kamron; Lakeman, Phillis; Sergouniotis, Panagiotis I; Webster, Andrew R; Moore, Anthony T; Pal, Bishwanath; Mohamed, Moin D; Venkataramana, Anandula; Ramprasad, Vedam; Shetty, Rohit; Saktivel, Murugan; Kumaramanickavel, Govindasamy; Tan, Alex; Mackey, David A; Hewitt, Alex W; Banfi, Sandro; Ali, Manir; Inglehearn, Chris F; Toomes, Carmel

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

新一代测序技术在患有全身性眼部发育缺陷的家族中发现了 Atonal 同源物 7 (ATOH7) 的突变

Khan, Kamron; Logan, Clare V; McKibbin, Martin; Sheridan, Eamonn; Elçioglu, Nursel H; Yenice, Ozlem; Parry, David A; Fernandez-Fuentes, Narcis; Abdelhamed, Zakia I A; Al-Maskari, Ahmed; Poulter, James A; Mohamed, Moin D; Carr, Ian M; Morgan, Joanne E; Jafri, Hussain; Raashid, Yasmin; Taylor, Graham R; Johnson, Colin A; Inglehearn, Chris F; Toomes, Carmel; Ali, Manir

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

PXDN 纯合突变可导致先天性白内障、角膜混浊和发育性青光眼

Kamron Khan, Adam Rudkin, David A Parry, Kathryn P Burdon, Martin McKibbin, Clare V Logan, Zakia I A Abdelhamed, James S Muecke, Narcis Fernandez-Fuentes, Kate J Laurie, Mike Shires, Rhys Fogarty, Ian M Carr, James A Poulter, Joanne E Morgan, Moin D Mohamed, Hussain Jafri, Yasmin Raashid, Ngy Meng, 

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

TSPAN12基因突变导致常染色体显性遗传性家族性渗出性玻璃体视网膜病变

Poulter, James A; Ali, Manir; Gilmour, David F; Rice, Aine; Kondo, Hiroyuki; Hayashi, Kenshi; Mackey, David A; Kearns, Lisa S; Ruddle, Jonathan B; Craig, Jamie E; Pierce, Eric A; Downey, Louise M; Mohamed, Moin D; Markham, Alexander F; Inglehearn, Chris F; Toomes, Carmel