发表一篇学和医学成像类SCI论文
需要多少钱?
Abstract:
PURPOSE:This study reports the clinical features and genetic bases of 3 previously unreported families with punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD). DESIGN:Observational case series. METHODS:Full ophthalmic assessment was performed for members of 3 unreported families with PPPCD. Structural and biomechanical alterations of the cornea were screened. Whole exome sequencing (WES) was performed in the first family. Novel or rare variants that segregated with the affected status were screened in the other 2 families using Sanger sequencing. Identified variants that segregated with the affected status in all families were characterized by using in silico prediction tools and/or in vitro splice assays. Additionally, 2 previously reported PPPCD families were screened for variants identified in the 3 unreported PPPCD families. RESULTS:PPPCD was diagnosed in 12 of the 21 examined members of the 3 unreported families. The only refractive, topographic, or biomechanical abnormality associated with PPPCD was a significantly increased corneal stiffness. WES and Sanger sequencing identified 2 variants that segregated with the affected status in all 3 families: a rare intronic PDZD8 c.872+10A>T variant and a novel missense PRDX3 c.568G>C (p.Asp190His) variant. The same PRDX3 variant was identified in the previously reported PPPCD family expressing the common PPPCD phenotype and was predicted by in silico prediction tools to be damaging to protein function. CONCLUSIONS:PPPCD is associated with an alteration of corneal biomechanics and a novel missense variant in PRDX3. Screening of additional families will determine whether all families demonstrate a PRDX3 variant or whether locus heterogeneity may exist for PPPCD.
展开更多
最新影响因子:5.488 | 期刊ISSN:0002-9394 | CiteScore:3.64 |
出版周期:Monthly | 是否OA:YES | 出版年份:1884 |
期刊官方网址:http://www.ajo.com/
自引率:6.80% | 研究方向:医学-眼科学 |
出版地区:UNITED STATES |
SCI期刊coverage:Science Citation Index Expanded(科学引文索引扩展)
专业编辑在线一对一答疑及时解决您的问题
The American Journal of Ophthalmology is a peer-reviewed, scientific publication directed to ophthalmologists and visual science specialists describing clinical investigations, clinical observations, and clinically relevant laboratory investigations related to ophthalmology.
《美国眼科杂志》是一份经过同行评审的科学刊物,面向眼科医生和视觉科学专家,描述与眼科相关的临床调查、临床观察和临床相关实验室调查。
大类(学科) | 小类(学科) | 学科排名 |
医学 |
OPHTHALMOLOGY (眼科学) 2区 |
6/59 |
年度总发文量 | 年度论文发表量 | 年度综述发表量 |
263 | 259 | 4 |
引文计数(2018)
文献(2015-2017)
4576次引用
1257篇文献
序号 | 类别 | 排名 | 百分位 |
1 |
大类(学科):Medicine
小类(学科):Ophthalmology
|
#4/108
点击查看排名表
|
|
推荐刊物均可到国家新闻出
版总署网站查询正刊
可签署保密协议 ,不透露任
何用户信息可跟踪进程,全程
协议
1对1服务,7x24小时在线
15年经验沉淀,实体公司
运营
liting7111
liting7111
研究方向:医学 眼科学
审稿时间: 4个月内
liting7111
研究方向:青光眼
审稿时间: 2个月内 接受率: 比较困难(25%命中)
liting7111
研究方向:眼眶病
接受率: 比较困难(25%命中)
影响因子:2.67
ISSN:1054-6006
研究方向:农林科学-海洋学
影响因子:3.906
ISSN:1054-3139
研究方向:农林科学-海洋学
影响因子:3.994
ISSN:0304-4203
研究方向:化学-海洋学
影响因子:5.763
ISSN:0022-2828
研究方向:医学-细胞生物学
影响因子:3.128
ISSN:2228-5806
研究方向:CELL BIOLOGY-
影响因子:5.063
ISSN:2044-5040
研究方向:CELL BIOLOGY-
影响因子:0.308
ISSN:0884-6812
研究方向:CELL BIOLOGY-
影响因子:2.5
ISSN:0025-3235
研究方向:地学-地球化学与地球物理
影响因子:2.049
ISSN:0377-0265
研究方向:地学-地球化学与地球物理
发表一篇学和医学成像类SCI论文
需要多少钱?
专注医学期刊服务15年
您好:请问您咨询什么等级的期刊?专注医学类期刊发表15年口碑企业,为您提供以下服务:
1.医学核心期刊发表-全流程服务
2.医学SCI期刊-全流程服务
3.论文投稿服务-快速报价
4.期刊推荐直至录用,不成功不收费
客服正在输入...
AMERICAN JOURNAL OF OPHTHALMOLOGY 投稿经验
(由下方点评分析获得,4人参与,8582人阅读)