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ANIRIDIA: 作品数：10被引量：11H指数：2; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：杨桦董冰李杨更多>>; 相关机构：北京市眼科研究所更多>>; 相关期刊：《International Journal of Ophthalmology(English edition)》《Chinese Medical Journal》《Open Journal of Ophthalmology》《Annals of Eye Science》更多>>; 相关基金：国家重点基础研究发展计划更多>>

Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families: 《Current Medical Science》2024年第4期820-826,共7页Xiao-lu HAO Ran CHEN Wei LIU Bao-ke HOU Ling-hui QU Zhao-hui LI Da-jiang WANG Xin JIN Hou-bin HUANG; Objective To examine the clinical phenotype and genetic deficiencies present in Chinese aniridia families with PAX6 haplotype deficiency.Methods A comprehensive questionnaire and ophthalmological assessments were admi...; 关键词：ANIRIDIA PAX6 mutation haplotype deficiency PHENOTYPE genotype

Long range physical map of the Wilms' tumor-aniridia region on human chromosome 11: 《四川生理科学杂志》2024年第4期923-923,共1页D A Compton; The relationship between genetic alterations at chromosomal band 11p13 and the WAGR(Wilms'tumor,aniridia,genitourinary anomalies,and mental retardation)syndrome is not clearly understood.To aid our understanding of th...; 关键词：WILMS URINARY ani

A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family被引量：1: 《International Journal of Ophthalmology(English edition)》2024年第3期466-472,共7页Zhi-Bo Lin Chun-Yun Feng Jin Li An-Peng Pan Hai-Sen Sun A-Yong Yu Shi-Hao Chen; ●AIM:To investigate the molecular diagnosis of a threegeneration Chinese family affected with aniridia,and further to identify clinically a PAX6 missense mutation in members with atypical aniridia.●METHODS:Eleven fa...; 关键词：PAX6 gene atypical aniridia missense mutation MUTATION

A narrative review of limbal stem cell deficiency&severe ocular surface disease: 《Annals of Eye Science》2023年第3期19-32,共14页Jennifer C.W.Hu Danielle Trief; Background and Objective:Limbal stem cell deficiency(LSCD)describes the clinical condition when there is dysfunction of the corneal epithelial stem/progenitor cells and the inability to sustain the normal homeostasis ...; 关键词：Limbal stem cell deficiency(LSCD) chemical injury contact lens ANIRIDIA

Supporting suture combined scleral fixation of toric IOL implantation in traumatic aniridia,aphakia and corneal astigmatic eye:a case report: 《International Journal of Ophthalmology(English edition)》2023年第9期1559-1560,共2页Yan Shao Rong Luan Ju-Ping Liu Bo-Jie Hu Xiao-Rong Li; Supported by Tianjin Key Medical Discipline(Specialty)Construction Project(No.NTJYXZDXK-037A).; Dear Editor,Ocular trauma can cause severe visual functional impairment.The management is often challenging due to multistructures affected.Toric intraocular lens(IOL)implantation can be an effective method for the tr...; 关键词：IOL CORNEAL TRAUMATIC

Clinical Manifestation of Congenital Aniridia in Indonesia: 《Open Journal of Ophthalmology》2020年第2期133-141,共9页Irawati Irfani Levandi Mulja Sesy Caesarya Primawita Oktarima Mayasari Wahyu Feti K. Memed; Background: Congenital aniridia is a rare, panophthalmic disorder that can cause vision loss. Knowledge of aniridia as an isolated ocular abnormality or as a part of systemic abnormalities is important. Management of ...; 关键词：CONGENITAL ANIRIDIA CLINICAL FEATURES MANAGEMENT

Black diaphragm intraocular lens implantation and penetrating keratoplasty in aphakic eyes with traumatic aniridia: 《International Journal of Ophthalmology(English edition)》2013年第2期183-186,共4页Jun Li Xiao-Guang Dong; AIM:To evaluate the long-term outcome of implantation of black diaphragm intraocular (BDI) lens combined with penetrating keratoplasty (PKP) for managing aphakic eyes with traumatic aniridia and corneal damage. METHOD...; 关键词：black diaphragm intraocular lens penetrating keratoplasty ANIRIDIA TRAUMA

Analysis of PAX6 gene in a Chinese aniridia family被引量：3: 《Chinese Medical Journal》2006年第16期1400-1402,共3页ZHU Hai-yan WU Ling-qian PAN Qian LIANG De-sheng LONG Zhi-gao DAI He-ping XIA Kun XIA Jia-hui; This study was supported by a grant from National "973" program (No.2001CB510302); Aniridia is a dominantly inherited eye anomaly characterized by the near or complete absence of the iris with an incidence of approximately 1：80 000.1 Other ocular complications include glaucoma, cataract, and optic ...; 关键词：ANIRIDIA PAX6 frameshift mutation

Mutation analysis of PAX6 gene in a large Chinese family with aniridia被引量：7: 《Chinese Medical Journal》2005年第4期302-306,共5页SONG Shu-juan LIU Ying-zhi CONG Ri-chang JIN Ying HOU Zhi-qiang MA Zhi-zhong REN Guo-cheng LI Ling-song; This work was suppofled by grants from the Chinese National 973 Project(2002CB510100),863 Project(2003AA205070),the Ministry of Education 211 Project and the grants from the Beijing Ministry of Science and Technology(2002—489).; Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of ani...; 关键词：ANIRIDIA PAX6 gene mutation analysis

Management of Post-traumatic Aniridia with Retinal Detachment被引量：1: 《Eye Science》2001年第1期35-38,共4页Shibo Tang, Guanting Qiu, Pei Wang, Xiaoling LiangZhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou 510060, China; Purpose: To reconstruct the anatomic and functional impairment in patients with post-traumatic aniridia, aphakia, and retinal detachment.Methods: Four patients with unilateral aniridia and aphakia as well as retinal d...; 关键词：视网膜分离对甲氧基苯甲醛解剖学无晶状体眼眼损伤

ANIRIDIA