Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies

机译：488例继承视网膜营养不良患者队列的描述性研究

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摘要

To analyze the distribution of inherited retinal diseases (IRDs), describe the clinical characteristics of patients, and determine the percentages of patients with genetic diagnosis in the Castilla y Leon region of Spain.

机译：为了分析遗传性视网膜疾病（IRDS）的分布，描述患者的临床特征，并确定西班牙Castilla Y Leon地区遗传诊断患者的百分比。

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期刊名称 Clinical Ophthalmology (Auckland N.Z.)
作者
Rosa M Coco-Martin; Miguel Diego-Alonso; W Andres Orduz-Montaña; M Rosa Sanabria; Hortensia Sanchez-Tocino;
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作者单位

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年(卷),期 2021(-1),-1
年度 2021
页码 -1
总页数 10
原文格式 PDF
正文语种
中图分类眼科学;
关键词
inherited retinal dystrophies; retinitis pigmentosa; genetic diagnosis; visual acuity; visual field;

机译：继承的视网膜染色剂;视网膜炎粒子;遗传诊断;视力;视野;

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专利

1. CLINICAL AND GENETIC EVALUATION IN A COHORT OF PEDIATRIC PATIENTS WITH INHERITED RETINAL DYSTROPHIES [J] . Brunetti-Pierri Raffaella, Filippelli Mariaelena, Testa Francesco, Investigative ophthalmology & visual science . 2017,第8期

机译：继承视网膜营养不良患者队列中的临床和遗传评价
2. CLINICAL AND GENETIC EVALUATION IN A COHORT OF PEDIATRIC PATIENTS WITH INHERITED RETINAL DYSTROPHIES [J] . Brunetti-Pierri Raffaella, Filippelli Mariaelena, Testa Francesco, Investigative ophthalmology & visual science . 2017,第8期

机译：继承视网膜营养不良患者队列中的临床和遗传评价
3. Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing [J] . Huang Xiu-Feng, Huang Fang, Wu Kun-Chao, Genetics in medicine . 2015,第4期

机译：下一代测序揭示了一大批遗传性视网膜营养不良患者的基因型-表型相关性和突变谱
4. Reducing the artifacts in the identification of outer retinal boundary in the SD-OCT image with inherit retinal dystrophies [C] . Min Zhang, Sekiguchi Hiroyuki, Uji Akihito, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2015

机译：减少具有遗传性视网膜营养不良的SD-OCT图像中识别外部视网膜边界的伪影
5. Exploring miRnas as Modulators in Retinal Degeneration: Potential Therapeutic Tools for Inherited Retinal Dystrophies [D] . Guadagnino, Irene. 2021

机译：视网膜退化中的调节剂探索miRNA：遗传性视网膜营养不良的潜在治疗工具
6. Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies [O] . Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, 2017

机译：小儿严重遗传性视网膜营养不良患者队列的临床和遗传学评估
7. Descriptive Study of a 488 Patients Cohort with Inherited Retinal Diseases and a Low Genetic Diagnosis Rate. [O] . Rosa M. Coco-Martin, Miguel Diego-Alonso, W. Andres Orduz-Montaña, 2020

机译：488例患者遗传性视网膜疾病的描述性研究及遗传诊断率低。

Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies

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