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

A novel frameshift variant in BCOR causes congenital nuclear cataract

BCOR基因中一种新的移码变异导致先天性核性白内障

Berry, Vanita; Ponnekanti, Manav B; Pontikos, Nikolas; Quinlan, Roy A; Michaelides, Michel

A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family

日本一个家族中,LIM2基因的一个复发性变异导致孤立性先天性缝线/板层白内障。

Berry, Vanita; Fujinami, Kaoru; Mochizuki, Kiyofumi; Iwata, Takeshi; Pontikos, Nikolas; Quinlan, Roy A; Michaelides, Michel

The genetic landscape of crystallins in congenital cataract

先天性白内障中晶状体蛋白的遗传图谱

Berry, Vanita; Ionides, Alex; Pontikos, Nikolas; Georgiou, Michalis; Yu, Jing; Ocaka, Louise A; Moore, Anthony T; Quinlan, Roy A; Michaelides, Michel

Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans.

LAT2氨基酸转运蛋白功能障碍与小鼠和人类的白内障有关

Knöpfel Emilia Boiadjieva, Vilches Clara, Camargo Simone M R, Errasti-Murugarren Ekaitz, Stäubli Andrina, Mayayo Clara, Munier Francis L, Miroshnikova Nataliya, Poncet Nadège, Junza Alexandra, Bhattacharya Shomi S, Prat Esther, Berry Vanita, Berger Wolfgang, Heon Elise, Moore Anthony T, Yanes Óscar, Nunes Virginia, Palacín Manuel, Verrey Francois, Kloeckener-Gruissem Barbara

A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q

一种新的常染色体显性遗传性先天性蓝白色白内障基因位点定位于12q染色体上。

Berry, Vanita; Ionides, Alexander C W; Moore, Anthony T; Bhattacharya, Shomi S