Literature DB >> 16021188

Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I.

S Yoshida, Y Yamaji, R Kuwahara, A Yoshida, T Hisatomi, A Ueno, T Ishibashi.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 16021188     DOI： 10.1038/sj.eye.6702001

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


× No keyword cloud information.
  6 in total

1.  Association between SCO2 mutation and extreme myopia in Japanese patients.

Authors:  Tomotaka Wakazono; Masahiro Miyake; Kenji Yamashiro; Munemitsu Yoshikawa; Nagahisa Yoshimura
Journal:  Jpn J Ophthalmol       Date:  2016-04-06       Impact factor: 2.447

2.  Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome.

Authors:  Hiroyuki Kondo; Itsuka Matsushita; Tatsuo Nagata; Takaaki Hayashi; Masashi Kakinoki; Eiichi Uchio; Mineo Kondo; Masahito Ohji; Shunji Kusaka
Journal:  Hum Genome Var       Date:  2016-07-07

3.  Comparison of gene expression profile of epiretinal membranes obtained from eyes with proliferative vitreoretinopathy to that of secondary epiretinal membranes.

Authors:  Ryo Asato; Shigeo Yoshida; Atsushi Ogura; Takahito Nakama; Keijiro Ishikawa; Shintaro Nakao; Yukio Sassa; Hiroshi Enaida; Yuji Oshima; Kazuho Ikeo; Takashi Gojobori; Toshihiro Kono; Tatsuro Ishibashi
Journal:  PLoS One       Date:  2013-01-23       Impact factor: 3.240

4.  Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.

Authors:  Khanh-Nhat Tran-Viet; Vincent Soler; Valencia Quiette; Caldwell Powell; Tammy Yanovitch; Ravikanth Metlapally; Xiaoyan Luo; Nicholas Katsanis; Erica Nading; Terri L Young
Journal:  Mol Vis       Date:  2013-04-05       Impact factor: 2.367

5.  Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?

Authors:  Lin Zhou; Xueshan Xiao; Shiqiang Li; Xiaoyun Jia; Panfeng Wang; Wenmin Sun; Fengsheng Zhang; Jiazhang Li; Tuo Li; Qingjiong Zhang
Journal:  Mol Vis       Date:  2018-08-10       Impact factor: 2.367

6.  Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.

Authors:  Xinhua Huang; Ying Lin; Chuan Chen; Yi Zhu; Hongbin Gao; Tao Li; Bingqian Liu; Cancan Lyu; Ying Huang; Qingxiu Wu; Haichun Li; Chenjin Jin; Xiaoling Liang; Lin Lu
Journal:  Int J Mol Med       Date:  2018-07-04       Impact factor: 4.101
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.