云南高校图书馆联盟文献共享服务平台- MARFAN

MARFAN: 作品数：43被引量：25H指数：3; 导出分析报告; 相关领域：医药卫生更多>>; 相关作者：姚克金冲飞陈琳孙琳张学军更多>>; 相关机构：哈尔滨医科大学浙江大学医学院附属第二医院南京大学医学院附属鼓楼医院广东省妇幼保健院更多>>; 相关期刊：《全科护理》《广西医科大学学报》《中国优生与遗传杂志》《中国现代医学杂志》更多>>; 相关基金：国家自然科学基金更多>>

Lens coloboma with bilateral ectopia lentis in Marfan syndrome:a case report: 《International Journal of Ophthalmology(English edition)》2025年第2期358-361,共4页Zhen-Bo Zhao Kai-Li Tang Yu-Xi Ding Ji-Kun Yang Huan-Ping Wang Li-Wei Ma; Supported by Hunan Province Enterprise Joint Fund Project(No.2023JJ70040);Young and Middle-Aged Science and Technology Innovation Incubation Project of Aier Eye Group(No.AC2214D01);Free Exploration Program of the Scientific Research Foundation of Aier Eye Group in 2021(No.AF2102D6);Clinical Research Institute Research Fund Project of Aier Eye Group(No.AR2102D1).; Dear Editor,We report a rare case of lens coloboma and several notches with bilateral ectopia lentis in Marfan syndrome.This case was approved by the Ethics Committee of Aier Excellence Eye Hospital(2023KJB0004).Writt...; 关键词：MARFAN BILATERAL RARE

A superficial siderosis-related transient focal neurological episode in a patient with Marfan syndrome: 《Chronic Diseases and Translational Medicine》2023年第3期269-272,共4页Slaven Pikija Eugen Trinka Pfaff Johannes Andreea Toma Mahdi Safdarian; To the Editor,Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the gene encoding a matrix component of microfibrils;fibrillin-1(FBN1),with an incidence of about 1-3 per 10,...; 关键词：SUPERFICIAL MARFAN BALLOON

Evaluation of axial length/total corneal refractive power ratio as a potential marker for ocular diagnosis of Marfan’s syndrome in children被引量：1: 《International Journal of Ophthalmology(English edition)》2021年第8期1218-1224,共7页Tian-Hui Chen Ai-Zhu Miao Yu-Liang Wang Min Zhang Jia-Hui Chen Jia-Lei Zheng Michael Deng Ying-Hong Ji Yong-Xiang Jiang; Supported by the National Natural Science Foundation of China(No.81770908);the Shanghai Science and Technology Commission(Scientific Innovation Project,No.20Y11911000)。; AIM:To investigate whether the axial length(AL)/total corneal refractive power(TCRP)ratio is a sensitive and simple factor that can be used for the early diagnosis of Marfan’s syndrome(MFS)in children.METHODS:The rel...; 关键词：axial length total corneal refractive power ratio DIAGNOSIS Marfan’s syndrome CHILDREN

Retrospective analysis of the prognostic effect of angiotensin receptor blocker on non-Marfan aortic dissection: 《South China Journal of Cardiology》2020年第3期163-167,197,共6页HUANG Cheng LIN Yu-peng JIANG Zhi-sheng HUANG Wen-hui; Background Aortic dissection(AD)is a life-threatening vascular disease caused by various etiologies including Marfan’s syndrome.Angiotensin receptor blocker(ARB)drugs have been confirmed beneficial for patients with ...; 关键词：angiotensin receptor blocker non-Marfanoid aortic dissection aortic dilation proximal laceration hematoma

采用二代测序对Marfan综合征家系进行植入前遗传学诊断被引量：3: 《分子诊断与治疗杂志》2020年第8期995-1000,共6页何天文卢建陈创奇刘顿丁红珂董云巧杜丽尹爱华; 国家重点研发计划项目(2016YFC1000703)。; 目的探讨二代测序在Marfan综合征家系的植入前遗传学诊断应用价值和优势。方法针对2016年10月在广东省妇幼保健院医学遗传中心就诊的1例Marfan综合征家系行外显子捕获测序筛查微纤维蛋白(FBN1)基因突变位点,筛查结果通过Sanger测序进行...; 关键词：二代测序 MARFAN综合征 FBN1基因植入前遗传学诊断

Genetic analysis and preimplantation genetic diagnosis of Chinese Marfan syndrome patients被引量：9: 《Journal of Genetics and Genomics》2019年第6期319-323,共5页Meng Qin Xiaohui Zhu Zhe Zhang Xuemin Li Zhiqiang Yan Yuqian Wang Shuo Guan Yihua He Wenxin Zhang Liying Yan Jie Qiao Xu Zhi; supported by the National Key R&D Program of China (2018YFC1002302, 2016YFC0900103);National Natural Science Foundation of China (81671458);Beijing Lab for Cardiovascular Precision Medicine (PXM2018_014226_000013);supported by the Reproduction Center Biobank at Peking University Third Hospital; Marfan syndrome (MFS)(OMIM 154700) is a relatively common autosomal dominant genetic disease that causes skeletal, ocular, and cardiovascular defects and was first described by a French pediatrician in 1896 (Bitterman...; 关键词：MARFAN syndrome (MFS) CARDIOVASCULAR defects FRENCH PEDIATRICIAN

A novel mutation in FBN1 gene in autosomal dominant Marfan syndrome and macular degeneration in a Chinese consanguineous family被引量：2: 《International Journal of Ophthalmology(English edition)》2019年第5期725-730,共6页Ping-Bo Ouyang Yuan Zhao Ying-Qian Peng Lu-Si Zhang Jian Cao Yun Li; Supported by National Natural Science Foundation of China(No.81300798);Project supported by the Natural Science Foundation of Hunan Province,China(No.2018JJ3737);Department of Science and Technology,Hunan(No.2015TP2007); AIM: To report a novel mutation in FBN1 gene in a Chinese consanguineous family with common Marfan syndrome(MFS) phenotype and an unusual bilateral macular degeneration. METHODS: Ophthalmic, cardiovascular and systemi...; 关键词：MARFAN SYNDROME fibrillin-1 autosomal DOMINANT HETEROZYGOUS MUTATION

1例Marfan′s综合征并双眼晶状体全脱病人的护理: 《全科护理》2019年第2期251-252,共2页殷瑜霞万桂英; 总结1例Marfan′s综合征并双眼晶状体全脱位于前房病人的围术期护理,护理重点是做好术后护理,密切监测眼压,及早发现并发症,注重心理护理及出院指导。; 关键词：Marfan′s综合征晶状体晶状体全脱位前房护理

非典型Marfan综合征伴青光眼手术治疗及护理1例报告被引量：1: 《实用医院临床杂志》2018年第4期265-266,共2页王仁秋陈红艳郝永丽李妮; 1病例介绍患者,女,43岁。因＂反复右眼胀感伴眼红2月＂于2015年10月20日入院治疗。患者入院前2月,无明显诱因出现右眼胀感伴眼红,伴反复视物不清,但无头痛、恶心、呕吐等症状。于当地医院就诊,诊断为＂青光眼＂。为求进一步治疗患者来...; 关键词：晶状体赤道 Hg 综合征 MARFAN 闭角型青光眼白内障结膜充血对光反射眼部异常虹膜周切瞳孔缘

Genotype-phenotype analysis of a novel mutation of FBN1 gene in a Chinese Marfan syndrome family: 《中国循环杂志》2018年第S01期125-125,共1页Ying Zhang Lin Zhang Peng Fan Kunqi Yang Xianliang Zhou; Objective causing mutation in a Marfan syndrome(MFS)family with a proband,and to establish genotype-phenotype correlations.Methods Genomic DNA from peripheral blood leukocytes of a Chinese Marfan syndrome familial wer...; 关键词：MARFAN syndrome(MFS) FBN1 CHINESE MARFAN SYNDROME FAMILY

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