CORC

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CORC

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Detection of ten novel FBN1 mutations in Chinese patients with typical or incomplete Marfan syndrome and an overview of the genotype-phenotype correlations 期刊论文
2019, 卷号: 293, 页码: 186-191
作者:  Gao, Linggen;  Tian, Tao;  Zhou, Xianliang;  Fan, Li;  Wang, Rong
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03
Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease 期刊论文
2019
作者:  Li Jiacheng;  Lu Chaoxia;  Wu Wei;  Liu Yaping;  Wang Rongrong
收藏  |  浏览/下载：19/0  |  提交时间：2020/01/03
A novel FBN1 mutation causes autosomal dominant Marfan syndrome 期刊论文
MOLECULAR MEDICINE REPORTS, 2017, 卷号: 16, 期号: 5, 页码: 7321-7328
作者:  Xiao, Ying;  Liu, Xiaoqi;  Guo, Xiaoxin;  Liu, Liping;  Jiang, Linxin
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/12
A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family 期刊论文
CLINICA CHIMICA ACTA, 2016, 卷号: 460
作者:  Li, Yapeng;  Xu, Jianhua;  Chen, Mingjie;  Du, Binbin;  Li, Qiaoli
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/06
A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome 期刊论文
2015, 卷号: 14, 期号: 2, 页码: 4125
作者:  Yin, Y.[1];  Liu, X. -H.[2];  Li, X. -H.[3];  Fan, N.[2];  Lei, D. -F.[4]
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/17
A novel FBN1 heterozygous mutation identifed in a Chinese family with autosomal dominant Marfan syndrome 期刊论文
Genetics and molecular research : GMR, 2015, 卷号: 14, 期号: 2, 页码: 4125-4132
作者:  Yin, Y.;  Liu, X. -H.;  Li, X. -H.;  Fan, N.;  Lei, D. -F.
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/27
Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family 期刊论文
MOLECULAR VISION, 2014, 卷号: 20
作者:  Fu, Qing;  Liu, Peng;  Lu, Qingsheng;  Wang, Feng;  Wang, Hui
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/19
Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family 期刊论文
2014, 卷号: 20, 页码: 812-821
作者:  Fu, Qing;  Liu, Peng;  Lu, Qingsheng;  Wang, Feng;  Wang, Hui
收藏  |  浏览/下载：7/0  |  提交时间：2020/01/13
Next generation sequencing as a fast molecular diagnosis for Marian syndrome in a Chinese family with mutation in FBN1 期刊论文
2014, 卷号: 129, 页码: 34-34
作者:  Xiao, Yan;  Lu, Chaoxia;  Liu, Yaxin;  Yang, Kunqi;  Liu, Fang
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13
Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1) 期刊论文
OPHTHALMIC GENETICS, 2013, 卷号: 34, 期号: [db:dc_citation_issue], 页码: 21-26
作者:  Zhao, Jun-Hong;  Jin, Tian-Bo;  Liu, Qing-Bo;  Chen, Chao;  Hu, Hai-Tao
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/10

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