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

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

SAMD7基因突变会导致常染色体隐性遗传性黄斑营养不良,伴或不伴视锥细胞功能障碍。

Bauwens, Miriam; Celik, Elifnaz; Zur, Dinah; Lin, Siying; Quinodoz, Mathieu; Michaelides, Michel; Webster, Andrew R; Van Den Broeck, Filip; Leroy, Bart P; Rizel, Leah; Moye, Abigail R; Meunier, Audrey; Tran, Hoai Viet; Moulin, Alexandre P; Mahieu, Quinten; Van Heetvelde, Mattias; Arno, Gavin; Rivolta, Carlo; De Baere, Elfride; Ben-Yosef, Tamar

GNB1-Related Rod-Cone Dystrophy: A Case Report

GNB1相关视杆细胞-视锥细胞营养不良:病例报告

Conti, Giovanni Marco; Cancellieri, Francesca; Quinodoz, Mathieu; Kaminska, Karolina; Vaclavik, Veronika; Rivolta, Carlo; Tran, Hoai Viet

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

对 1192 例视网膜色素变性和莱伯氏先天性黑蒙先证者的 113 个基因进行经济有效的序列分析

Panneman, Daan M; Hitti-Malin, Rebekkah J; Holtes, Lara K; de Bruijn, Suzanne E; Reurink, Janine; Boonen, Erica G M; Khan, Muhammad Imran; Ali, Manir; Andréasson, Sten; De Baere, Elfride; Banfi, Sandro; Bauwens, Miriam; Ben-Yosef, Tamar; Bocquet, Béatrice; De Bruyne, Marieke; de la Cerda, Berta; Coppieters, Frauke; Farinelli, Pietro; Guignard, Thomas; Inglehearn, Chris F; Karali, Marianthi; Kjellström, Ulrika; Koenekoop, Robert; de Koning, Bart; Leroy, Bart P; McKibbin, Martin; Meunier, Isabelle; Nikopoulos, Konstantinos; Nishiguchi, Koji M; Poulter, James A; Rivolta, Carlo; Rodríguez de la Rúa, Enrique; Saunders, Patrick; Simonelli, Francesca; Tatour, Yasmin; Testa, Francesco; Thiadens, Alberta A H J; Toomes, Carmel; Tracewska, Anna M; Tran, Hoai Viet; Ushida, Hiroaki; Vaclavik, Veronika; Verhoeven, Virginie J M; van de Vorst, Maartje; Gilissen, Christian; Hoischen, Alexander; Cremers, Frans P M; Roosing, Susanne

Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy.

Zeste同源物2增强子(EZH2)在多种视网膜变性中促进视杆感光细胞死亡过程,其活性可作为治疗效果的生物标志物

Mbefo Martial, Berger Adeline, Schouwey Karine, Gérard Xavier, Kostic Corinne, Beryozkin Avigail, Sharon Dror, Dolfuss Hélène, Munier Francis, Tran Hoai Viet, van Lohuizen Maarten, Beltran William A, Arsenijevic Yvan

Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies

假显性遗传性视网膜营养不良的不同表型

Habibi, Imen; Falfoul, Yosra; Tran, Hoai Viet; El Matri, Khaled; Chebil, Ahmed; El Matri, Leila; Schorderet, Daniel F

Retinal Structure in RPE65-Associated Retinal Dystrophy

RPE65相关性视网膜营养不良的视网膜结构

Kumaran, Neruban; Georgiou, Michalis; Bainbridge, James W B; Bertelsen, Mette; Larsen, Michael; Blanco-Kelly, Fiona; Ayuso, Carmen; Tran, Hoai Viet; Munier, Francis L; Kalitzeos, Angelos; Michaelides, Michel

Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.

NR2E3 配体结合域中与增强型 S 锥体敏感性综合征 (ESCS) 相关的变异体的差异性二聚化

von Alpen Désirée, Tran Hoai Viet, Guex Nicolas, Venturini Giulia, Munier Francis L, Schorderet Daniel F, Haider Neena B, Escher Pascal