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

Loss of paired immunoglobin-like type 2 receptor B gene associated with age-related macular degeneration impairs photoreceptor function in mouse retina.

与年龄相关性黄斑变性相关的成对免疫球蛋白样 2 型受体 B 基因的缺失会损害小鼠视网膜的光感受器功能

Dey Partha Narayan, Singh Nivedita, Zelinger Lina, Batz Zachary, Nellissery Jacob, White Carreiro Noor D, Qian Haohua, Li Tiansen, Fariss Robert N, Dong Lijin, Swaroop Anand

SSBP1 faux pas in mitonuclear tango causes optic neuropathy

SSBP1 在线粒体核团跳探戈中的失误会导致视神经病变

Zelinger, Lina; Swaroop, Anand

RNA Biology in Retinal Development and Disease

视网膜发育和疾病中的RNA生物学

Zelinger, Lina; Swaroop, Anand

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF

以色列一个近亲结婚家庭中出现的非综合征型早发性锥杆细胞营养不良和肢带型肌营养不良是由ALMS1和DYSF基因中两个独立但连锁的突变引起的。

Lazar, Csilla H; Kimchi, Adva; Namburi, Prasanthi; Mutsuddi, Mousumi; Zelinger, Lina; Beryozkin, Avigail; Ben-Simhon, Shiran; Obolensky, Alexey; Ben-Neriah, Ziva; Argov, Zohar; Pikarsky, Eli; Fellig, Yakov; Marks-Ohana, Devorah; Ratnapriya, Rinki; Banin, Eyal; Sharon, Dror; Swaroop, Anand

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel

全外显子组测序揭示GUCY2D是以色列视锥细胞和视锥-视杆细胞营养不良的主要相关基因。

Lazar, Csilla H; Mutsuddi, Mousumi; Kimchi, Adva; Zelinger, Lina; Mizrahi-Meissonnier, Liliana; Marks-Ohana, Devorah; Boleda, Alexis; Ratnapriya, Rinki; Sharon, Dror; Swaroop, Anand; Banin, Eyal

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa

编码视网膜间质蛋白聚糖2的IMPG2基因突变会导致常染色体隐性遗传性视网膜色素变性。

Bandah-Rozenfeld, Dikla; Collin, Rob W J; Banin, Eyal; van den Born, L Ingeborgh; Coene, Karlien L M; Siemiatkowska, Anna M; Zelinger, Lina; Khan, Muhammad I; Lefeber, Dirk J; Erdinest, Inbar; Testa, Francesco; Simonelli, Francesca; Voesenek, Krysta; Blokland, Ellen A W; Strom, Tim M; Klaver, Caroline C W; Qamar, Raheel; Banfi, Sandro; Cremers, Frans P M; Sharon, Dror; den Hollander, Anneke I