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

Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis

ABCA4相关视网膜病变轻度变异患者中女性的比例:一项荟萃分析

Cornelis, Stéphanie S; IntHout, Joanna; Runhart, Esmee H; Grunewald, Olivier; Lin, Siying; Corradi, Zelia; Khan, Mubeen; Hitti-Malin, Rebekkah J; Whelan, Laura; Farrar, G Jane; Sharon, Dror; van den Born, L Ingeborgh; Arno, Gavin; Simcoe, Mark; Michaelides, Michel; Webster, Andrew R; Roosing, Susanne; Mahroo, Omar A; Dhaenens, Claire-Marie; Cremers, Frans P M

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity

针对斯塔加特病的个性化遗传咨询:基于变异严重程度的后代风险评估

Cornelis, Stéphanie S; Runhart, Esmee H; Bauwens, Miriam; Corradi, Zelia; De Baere, Elfride; Roosing, Susanne; Haer-Wigman, Lonneke; Dhaenens, Claire-Marie; Vulto-van Silfhout, Anneke T; Cremers, Frans P M

Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

Stargardt病:利用荷兰全国疾病登记系统监测发病率和诊断趋势

Runhart, Esmee H; Dhooge, Patty; Meester-Smoor, Magda; Pas, Jeroen; Pott, Jan Willem R; van Leeuwen, Redmer; Kroes, Hester Y; Bergen, Arthur A; de Jong-Hesse, Yvonne; Thiadens, Alberta A; van Schooneveld, Mary J; van Genderen, Maria; Boon, Camiel; Klaver, Caroline; van den Born, L Ingeborg; Cremers, Frans P M; Hoyng, Carel B

Correlation of Morphology and Function of Flecks Using Short-Wave Fundus Autofluorescence and Microperimetry in Patients With Stargardt Disease

利用短波眼底自发荧光和微视野检查法研究斯塔加特病患者视网膜斑点形态与功能的相关性

Dhooge, Patty P A; Runhart, Esmee H; Lambertus, Stanley; Bax, Nathalie M; Groenewoud, Johannes M M; Klevering, B Jeroen; Hoyng, Carel B

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

Stargardt病中常见和轻微ABCA4等位基因与性别的关联

Runhart, Esmee H; Khan, Mubeen; Cornelis, Stéphanie S; Roosing, Susanne; Del Pozo-Valero, Marta; Lamey, Tina M; Liskova, Petra; Roberts, Lisa; Stöhr, Heidi; Klaver, Caroline C W; Hoyng, Carel B; Cremers, Frans P M; Dhaenens, Claire-Marie

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

ABCA4基因深内含子变异解释了Stargardt病中遗传性的缺失,并允许通过反义寡核苷酸纠正剪接缺陷。

Sangermano, Riccardo; Garanto, Alejandro; Khan, Mubeen; Runhart, Esmee H; Bauwens, Miriam; Bax, Nathalie M; van den Born, L Ingeborgh; Khan, Muhammad Imran; Cornelis, Stéphanie S; Verheij, Joke B G M; Pott, Jan-Willem R; Thiadens, Alberta A H J; Klaver, Caroline C W; Puech, Bernard; Meunier, Isabelle; Naessens, Sarah; Arno, Gavin; Fakin, Ana; Carss, Keren J; Raymond, F Lucy; Webster, Andrew R; Dhaenens, Claire-Marie; Stöhr, Heidi; Grassmann, Felix; Weber, Bernhard H F; Hoyng, Carel B; De Baere, Elfride; Albert, Silvia; Collin, Rob W J; Cremers, Frans P M