In vivo corneal confocal microscopic findings and gene analysis of three patients with Thiel-Behnke corneal dystrophy. - Suppr | 超能文献

In vivo corneal confocal microscopic findings and gene analysis of three patients with Thiel-Behnke corneal dystrophy.

作者信息

Chen Ying-Jen, Chen Jiann-Torng, Lu Da-Wen, Tai Ming-Cheng

出版信息

Br J Ophthalmol. 2010 Feb;94(2):262-4. doi: 10.1136/bjo.2009.165217.

DOI:10.1136/bjo.2009.165217

Abstract

摘要

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

In vivo corneal confocal microscopic findings and gene analysis of three patients with Thiel-Behnke corneal dystrophy.

Br J Ophthalmol. 2010 Feb;94(2):262-4. doi: 10.1136/bjo.2009.165217.

2

In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies).鲍曼层营养不良（蒂尔-贝恩克和赖斯-布克勒角膜营养不良）的体内激光共聚焦显微镜检查结果

Ophthalmology. 2007 Jan;114(1):69-75. doi: 10.1016/j.ophtha.2006.05.076.

3

In vivo confocal microscopy and genotyping of a family with Thiel-Behnke (honeycomb) corneal dystrophy.蒂尔-贝恩克（蜂窝状）角膜营养不良家系的体内共焦显微镜检查及基因分型

Arch Ophthalmol. 2003 Oct;121(10):1498-9. doi: 10.1001/archopht.121.10.1498.

4

[A research on TGFBI gene mutations in Chinese families with corneal dystrophies].[中国角膜营养不良家系中TGFBI基因突变的研究]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Jun;23(3):310-2.

5

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3.一部分上皮基底膜角膜营养不良患者的TGFBI/BIGH3基因存在突变。

Hum Mutat. 2006 Jun;27(6):553-7. doi: 10.1002/humu.20331.

6

TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.匈牙利的转化生长因子β诱导蛋白（TGFBI，BIGH3）基因突变——与多形性角膜淀粉样变性相关的新型F547S突变报告

Mol Vis. 2007 Oct 18;13:1976-83.

7

Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy.角膜营养不良中人类转化生长因子β诱导基因突变的分析。

Chin Med J (Engl). 2004 Sep;117(9):1418-21.

8

A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene.一种与转化生长因子β诱导（TGFBI）基因中的Gly623Asp突变相关的独特的Bowman层和基质角膜营养不良。

Ophthalmology. 2005 Jun;112(6):1017-22. doi: 10.1016/j.ophtha.2004.12.044.

9

[Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies].[两种类型角膜营养不良患者中BIGH3基因突变的鉴定]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):32-4.

10

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.德国家庭中的TGFBI（BIGH3）基因突变：两个与独特临床和组织病理学发现相关的新突变

Br J Ophthalmol. 2009 Jul;93(7):932-7. doi: 10.1136/bjo.2008.142927. Epub 2008 Nov 10.

引用本文的文献

1

A Case Report of Successful Cataract Surgery in Theil-Behnke Corneal Dystrophy: A Visual Rehabilitation for the Patient.蒂尔-本克角膜营养不良患者白内障手术成功病例报告：患者的视力康复

Case Rep Ophthalmol. 2025 Mar 28;16(1):308-312. doi: 10.1159/000544846. eCollection 2025 Jan-Dec.

2

A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree.中国家系中蒂尔-本克角膜营养不良患者TGFBI基因Arg555Trp突变的一种新型表型-基因型相关性。

BMC Ophthalmol. 2015 Oct 13;15:131. doi: 10.1186/s12886-015-0121-0.