检索结果-内蒙古大学图书馆

您好，读者！请登录

内蒙古大学图书馆

首页
概况
党建
资源
服务
科研支持
- 论文收录引用证明
- 科技查新
知识产权
档案馆
帮助

咨询与建议

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

您的常用邮箱：*

您的手机号码：*

问题描述：

当前已输入0个字，您还可以输入200个字

全部搜索
期刊论文
图书
学位论文
标准
纸本馆藏
外文资源发现
数据库导航
超星发现

高级检索

时间限定

出版年份：

文献类型

图书期刊文献学位论文多媒体

馆藏选择

电子馆藏纸本馆藏

核心期刊

全部期刊 SCI 收录期刊 SSCI 收录期刊 EI 收录期刊 CSCD 收录期刊 CSSCI 收录期刊

语言

中文英文

文献类型

期刊文献图书学位论文标准纸本馆藏

帮助

文字说明：

T=题名（书名、题名），A=作者（责任者），K=主题词，P=出版物名称，PU=出版社名称，O=机构（作者单位、学位授予单位、专利申请人），L=中图分类号，C=学科分类号，U=全部字段，Y=年（出版发行年、学位年度、标准发布年）

检索规则说明：

AND代表“并且”；OR代表“或者”；NOT代表“不包含”；(注意必须大写,运算符两边需空一格)

检索范例：

范例一：(K=图书馆学 OR K=情报学) AND A=范并思 AND Y=1982-2016
范例二：P=计算机应用与软件 AND (U=C++ OR U=Basic) NOT K=Visual AND Y=2011-2016

分类表

所选分类

>> <<

限定检索结果

文献类型

542 篇 会议
1 篇 成果

馆藏范围

543 篇 电子文献
0 种 纸本馆藏

日期分布

学科分类号

412 篇 医学
- 399 篇 临床医学
- 17 篇 基础医学(可授医学...
- 15 篇 医学技术（可授医学...
- 5 篇 口腔医学
- 2 篇 公共卫生与预防医...
- 2 篇 中西医结合
- 1 篇 药学(可授医学、理...
6 篇 理学
- 6 篇 生物学
6 篇 工学
- 4 篇 生物医学工程（可授...
- 1 篇 仪器科学与技术
- 1 篇 公安技术
2 篇 管理学
- 2 篇 管理科学与工程(可...

主题

26 篇 产前诊断
25 篇 综合征
22 篇 基因突变
16 篇 先证者
15 篇 dna
13 篇 染色体核型分析
13 篇 染色体
11 篇 rna
11 篇 基因诊断
10 篇 snp
10 篇 基因突变分析
10 篇 相关性研究
9 篇 基因检测
9 篇 染色体异常
9 篇 基因型
7 篇 分子遗传学
7 篇 杂合突变
7 篇 sma
7 篇 拷贝数变异
7 篇 临床表型

机构

27 篇 上海交通大学医学...
23 篇 河南省人民医院
19 篇 中国医科大学
16 篇 中南大学
15 篇 中山大学
13 篇 中国医学科学院基...
12 篇 复旦大学
12 篇 郑州市儿童医院
11 篇 广州医科大学附属...
11 篇 柳州市妇幼保健院...
9 篇 吉林大学第一医院
9 篇 湖南省妇幼保健院
8 篇 北京大学第一医院
8 篇 温州市中心医院
8 篇 南方医科大学
8 篇 首都医科大学附属...
7 篇 江西省儿童医院
7 篇 山东中医药大学第...
7 篇 柳州市妇幼保健院
7 篇 中山大学附属第一...

作者

23 篇 顾学范
22 篇 余永国
16 篇 严提珍
16 篇 范燕洁
15 篇 邱文娟
15 篇 张惠文
14 篇 王丽丽
14 篇 韩连书
14 篇 叶军
14 篇 邬玲仟
13 篇 唐宁
13 篇 罗世强
13 篇 廖世秀
12 篇 李哲涛
11 篇 张清炯
10 篇 黄际卫
10 篇 张学
10 篇 李伍高
10 篇 梁黎黎
9 篇 刘睿智

语言

399 篇 中文
144 篇 英文

检索条件"任意字段=中华医学会第十五次全国医学遗传学学术会议、中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会"

共 543 条记录，以下是411-420 订阅

全选清除本页清除全部题录导出标记到"检索档案"

详细简洁

排序：

Statistical and health economics analysis of 310280 cases of fetal cell-free DNA Noninvasive prenatal screening in single test center

Statistical and health economics analysis of 310280 cases of...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Li Haoxian Zhang Yanghui Lv Weigang Liang Desheng Wu Lingqian Hunan Jiahui genetics hospital State key laboratory of medical genetics Hunan Provincial Maternal and Child Healthcare Hospital

Objective To determine whether the primary NIPS have high test accurate degree and whether the primary NIPS have better cost effectiveness than the contingent NIPS or biochemical screening. Method Retrospective statistical analyzed 310280 cases of single pregnancy NIPS from single test center during January 2012 to December 2014. Achieved the accurate degree of the primary and contingent NIPS. Calculated the economic burden of the disease of 21 trisomy syndrome. Continuously, analyzed the cost effectiveness of the primary and contingent NIPS based on the accurate degree and the economic burden of the disease. Result The detection rate, the positive prediction value of the primary and contingent NIPS for common syndromes was 99.34%, 91.48% and 99.60%, 93.31% for single pregnancy. The economic burden of disease of 21 trisomy syndrome was 281.48 thousand US dollars in China mainland. When NIPS costs less than 228.62 US dollars, the cost effectiveness of the primary NIPS was better than that of the contingent NIPS or biochemical screening. Conclusion NIPS has high detection accuracy, both as the primary and contingent tests. With the rapid decline in the cost of NIPS, the cost effectiveness analysis showed that NIPS would substitute biochemical screening in the very near future.

关键词： Statistical and health economics analysis of 310280 cases of fetal cell-free DNA Noninvasive prenatal screening in single test center DNA

来源：评论

学校读者我要写书评

暂无评论

A Novel MIP mutation in familial congenital nuclear cataracts

A Novel MIP mutation in familial congenital nuclear cataract...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Qin Litao Guo Liangjie Wang Hongdan Li Tao Lou Guiyu Guo Qiannan Hou Qiaofang Liu Hongyan Liao Shixiu Medical Genetic Institute of Henan Province Henan Provincial People's Hospital People's Hospital of Zhengzhou University

Objective Next-generation Squencing(NGS) has been widely used to detect mutations in genetic disorder. Congenital cataracts are a clinical disorder of opacity of the crystalline lens, usually pre senting at birth or during infancy, childhood or adolescence. Here, we employ NGS to detect the mutaion gene in a four-generation family with inherited cataract. Method We screened 60 known genes which are involved in inherited cataract by NGS. The can didate pathogenic gene according the next-generation sequencing, was analyzed by Sanger seq uencing. Result We identified a heterozygous mutation, c.508 dup C(p.L170 fs), in the major intrinsic pro tein(MIP) gene. This mutation results in a frame-shift in MIP and has not been previously reporte d. The correlation of the mutation with disease was validated by Sanger sequencing of DNA from the other affected or unaffected members of the family. Conclusion Our data expand the mutation spectrum of MIP mutation, and suggest that NGS is a n accurate, rapid, and cost-effective method in the genetic diagnosis of congenital nuclear cataract.

关键词： NGS A Novel MIP mutation in familial congenital nuclear cataracts

来源：评论

学校读者我要写书评

暂无评论

A discordant non-invasive prenatal test result in a trisomy 18 pregnancy due to 48, XX, +5, +18 placental mosaicism

A discordant non-invasive prenatal test result in a trisomy ...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Wang Leilei Yang Shuting Mao Huafen Yin Ting Gu Ying Lianyungang maternal and child health hospital

Objective In this study, we investigated the genetic basis of a discordant T5 positive and T18 n egative NIPT result associated with a T18 fetus confirmed by karyotyping. Method The aneuploidies of fetal and placental tissues were investigated by SNP-array and mas sively parallel sequencing, which were further validated by karyotyping analysis and quantitative fl uorescent PCR of short tandem repeat(STR) sequences. Result SNP-array and massively parallel sequencing examination of multiple placental biopsies r evealed a confined placental mosaicism(CPM) with non-mosaic T18 fetus and multiclonal placen ta with high level of T5 and low level of T18 cells. Based on fetal DNA fractions and average mos aicism levels, the effective T18 fetal DNA fraction was about 4%, which was close to the threshol d for the detection of trisomy. Conclusion For the reason the primary source of the fetal cell-free DNA was mostly originated fr om trophoblast cells of placentas, the level of T18 placental mosaicism could cause false negativ e NIPT result in rare case of multiple aneuploidies.

关键词： A discordant non-invasive prenatal test result in a trisomy 18 pregnancy due to 48 placental mosaicism

来源：评论

学校读者我要写书评

暂无评论

Detection of rare alpha-thalassemia by using multiplex ligation-dependent probe amplification in southwestern China

Detection of rare alpha-thalassemia by using multiplex ligat...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Cai Ren Tang Ning Huang Jiwei Yan Tizhen Luo Shiqiang Li Wugao Li Zhetao Huang Jun Li Jingwen Zhong qingyan Ya Jiaolian Liuzhou Maternal and Child Health Care Hospital

Objective To identify the rare alpha-thalassemia in southwestern China. Method 25 individuals suspected of having alpha-globin alteration(s), in which no or doubtful mut ations had been found using conventional methods, were screened by reliable multiplex ligation-d ependent probe amplification(MLPA) assay. Result In 19 out of 25 patient samples, we found 15 different alpha-thalassaemia deletions, four of which were not previously described. One novel deletions leaving the alpha-globin gene cluster intact were found to cause a complete downregulation of the downstream alpha-genes. These de letions, which are not easily detected by conventional techniques, may have clinical implications d uring pregnancy ranging from mild to life threatening microcytic haemolytic anaemia in neonates. Conclusion The MLPA assay is a rapid and sensitive method for high resolution analysis of the g lobin gene clusters in the high-incidence area of thalassemia, to allow characterizing previously u nsolved α-thalassemia genotypes.

关键词： Detection of rare alpha-thalassemia by using multiplex ligation-dependent probe amplification in southwestern China

来源：评论

学校读者我要写书评

暂无评论

The role of Phoshatidylserine flippase in cone opsin trafficking and cone survival in the retina

The role of Phoshatidylserine flippase in cone opsin traffic...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Zhu Xianjun Sichuan Provincial People's Hospital

Objective Photoreceptor cells are specialized cells with elongated outer segment cilia. Proper protein sorting and trafficking is essential for photoreceptor development and function. Phosphatidylserine flippase Atp8 a2 is important for the function and structure of photoreceptors. Loss of Atp8 a2 in mice led to degeneration of both rod ad cone cells. However, the mechanisms underlying the disease remain unknown. To better understand the role of Atp8 a2 in the retina, we investigated the roles of Atp8 a2 in protein trafficking. Method Atp8 a2 mutant retinas were analyzed for expression and localization of phototransduction cascade proteins by western blotting and immunohistochemistry. Result Atp8 a2 mutant retina developed shorter outer segment at one month of age. Expression of Green Opsin andcyclic nucleotide-gated channel CNG3 was reduced dramatically. Immunostaining revealed mislocalization of blue opsin and green/red opsin, GRK1 and cone CNG3 in the cone cells. Conclusion Loss of Atp8 a2 in the mice led to degeneration in cone cells. Our data suggest an essential role of phosphatidylserine flippase in retinal degeneration.

关键词： The role of Phoshatidylserine flippase in cone opsin trafficking and cone survival in the retina

来源：评论

学校读者我要写书评

暂无评论

A novel locus for autosomal dominant high hyperopia mapped to chromosomal 11

A novel locus for autosomal dominant high hyperopia mapped t...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Xiao Xueshan Li Shiqiang Jia Xiaoyun Guo Xiangming Zhang Qingjiong State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University

Objective High hyperopia is a common and severe refractive error associated with blurred vision, asthenopia, amblyopia and strabismus. This study is to map the genetic locus of autosomal domi nant high hyperopia in a large Chinese family Method An autosomal dominant high hyperopia was identified in five generation family with 16 aff ected patients. A genome wide linkage scan on 20 family members(14 affected) was performed by genotyping microsatellite markers at about 10 c M intervals, together with two-point linkage ana lysis. In the meantime, analysis of shared novel alleles on data from whole exome sequencing wa s used to confirm the linkage region and to search for potential candidate variants. Result High hyperopia in this family shows linkage to markers in 27.1 c M region on chromosome 11. All ten markers in the linkage interval gave positive lod scores, with maximum two-point lod scores of 4.68 at theta=0. Analysis of shared alleles identified only one region with multiple novel va riants, which also located in the linkage interval. Conclusion A novel locus for autosomal dominant high hyperopia is mapped to chromosomal 11. Analysis of additional families and functional study on candidate variants may lead to identificatio n of the gene responsible for autosomal dominant high hyperopia.

关键词： A novel locus for autosomal dominant high hyperopia mapped to chromosomal 11

来源：评论

学校读者我要写书评

暂无评论

Precise Prenatal Diagnosis of a Chinese Duchenne muscular dystrophy family with gonadal mosaicism

Precise Prenatal Diagnosis of a Chinese Duchenne muscular dy...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Liu Hongyan Wu Dong Li Tao Wang Hongdan 河南省人民医院医学遗传研究所

Aims Gonadal mosaicism is a general phenomenon accompanied with new mutations in dystrop hin gene, which can increase the recurrence risk of the children whose mothers are considered n on-carrier based on leukomonocyte DNA genetic testing. In this study the precise genetic diagnos is was performed on one 5-year-old boy with Duchenne muscular dystrophy(DMD) and his family members. Methods The peripheral venous blood and amniotic fluid were collected from this family member s respectively after the informed consent was obtained from all individuals. The MLPA reactions were performed to screen all the exons of dystrophin gene of the boy, two fetuses and their moth er. Dystrophin gene intragenic STR-(CA)n marker, array-CGH, gap-PCR and quantitative real-tim e PCR were used to confirm the deletion variation and the precise breakpoints of dystrophin gene. Results Five exons(exons 48 to 52) deletion in dystrophin gene of the boy was found and the sa me deletion was found in dystrophin gene of two fetuses. But the deletion of dystrophin gene was not detected in leukomonocyte DNA of the mother. The exact breakpoint positions were located i n a nucleotide of microhomology A from chrx: 31,945,542/chrx: 31,945,543 to chrx: 31,743,852/c hrx: 31,743,853, total 201,691 bp deletions. Conclusions The mother should be an obligatory carrier with gonadal mosaicism and it was she who passes this disease on to her children.

关键词： Precise Prenatal Diagnosis of a Chinese Duchenne muscular dystrophy family with gonadal mosaicism

来源：评论

学校读者我要写书评

暂无评论

Polymorphism of HLA-DRB1 loci in Henan Han population

Polymorphism of HLA-DRB1 loci in Henan Han population

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Guo Qian-nan Li-zhen Tie Xiao-mei Zhang Qiao-fang Hou Tao Li Shixiu Liao Henan Provincial People's Hospital

Objective To investigate the allelotype and frequencies of human leukocyte antigen-DRB1 gene alleles in Henan Han population at the DNA level,and further to analysis the distribution of the al leles of HLA-DRB1 by comparison Henan province with other places(Hubei, Guangdong and Jilin three provinces) in China. Method Distinguishing the allele subtypes of HLA-DRB1 of 1730 Henan Han population by PCRSSP. Result 13 allelotypes of HLA-DRB1 were detected in Henan Han population;and mong the 13 all elotyps, HLA-DRB1*15 allele(18.12%) was the most frequently appeared allele, DRB1*10 allele(1.33%) was the most infrequently appeared allele. The allele frequencies of DRB1 of Henan Han population were most similar to Jilin Han population wih signifiance(P>0.05%) only for HLA-DRB1*03、DRB1*12、DRB1*13、DRB1*14 and DRB1*16 five alleloypes. There were nine allelotyps among Henan and Guangdong Han population were significant diferent(P<0.05) and There were eight allelotyps among Henan and Hubei Han population were significant diferent(P<0.05). Conclusion The high frequency of HLA-DRB1*15 allele in Henan Han populaion may suppose th at there would be a high incidene of drug inuced liver injury among Henan Han population.

关键词： DRB HLA Polymorphism of HLA-DRB1 loci in Henan Han population

来源：评论

学校读者我要写书评

暂无评论

A New Method for Measuring Autoimmune Disease Similarity by Integrating Semantic and Gene Functional Association and Network

A New Method for Measuring Autoimmune Disease Similarity by ...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Zhu Hongjie Henan Provincial People's Hospital

Objective Autoimmune disease is a polygenic complex disease and its pathogenesis is multifacet ed. So measuring similarity between diseases plays an important role in disease-related molecula r function research. However, it is still a challenge to calculate autoimmune disease similarity acc urately. Method Therefore, a new method that integrates network and semantic and functional associatio n is proposed to address the issue. First of all, Network Similarity is based on the topology charac teristics of the network which is constructed through genetic interaction. Functional Similarity is pr oposed to calculate disease similarity using disease-related gene sets in a weighted network of h uman gene function. Semantic Similarity is devised to calculate disease similarity using the relatio nship between two diseases based on the number of the genes associated with the disease. Fina lly, Net Sim and Fun Sim and Sem Sim are integrated to measure disease similarity. Result By this method we got the similarity relationship between autoimmune diseases, and built their networks and hierarchical clustering. And then through the application of hierarchical clusteri ng, the results showed that: four common autoimmune diseases(RA, MS, SLE, T1 D) showed a h igh similarity and were classified into the same cluster, which provided theoretical support for the study of their sharing mechanism and treatment;hemolytic anemia and Graves ophthalmopathy(t hyroid eye disease), having a high similarity, and literature had previously confirmed that the two diseases occurred in the same patient. Conclusion Construction of the network showed some autoimmune diseases presentation modul e of the network. These can help us understand the relationship between t autoimmune diseases from a global point of view, and provide us with the diagnosis and treatment of autoimmune diseases.

关键词： A New Method for Measuring Autoimmune Disease Similarity by Integrating Semantic and Gene Functional Association and Network

来源：评论

学校读者我要写书评

暂无评论

Identification and functional analysis of long non-coding RNAs in human and mouse early embryos based on single-cell transcriptome data

Identification and functional analysis of long non-coding RN...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Qiu Jia-jun Ren Zhao-rui Yan Jing-bin 上海市儿童医院

Objective Epigenetics regulations have an important role in fertilization and proper embryonic de velopment, and several human diseases are associated with epigenetic modification disorders, su ch as Rett syndrome, Beckwith-Wiedemann syndrome and Angelman syndrome. However, the d ynamics and functions of long non-coding RNAs(lnc RNAs), one type of epigenetic regulators, in human pre-implantation development have not yet been demonstrated. Method A comprehesive analysis of human and mouse early-stage embryonic lnc RNAs was perf ormed based on publlic single-cell RNA sequencing data. Result Expression profile analysis revealed that lnc RNAs are expressed in a developmental stag e–specific manner during human early-stage embryonic development, whereas a more temporalspecific expression pattern was identified in mouse embryos. Weighted gene co-expression netw ork analysis suggested that lnc RNAs involved in human early-stage embryonic development are associated with several important functions and processes, such as oocyte maturation, zygotic ge nome activation and mitochondrial functions. We also found that the network of lnc RNAs involved in zygotic genome activation was highly preservative between human and mouse embryos, wher eas in other stages no strong correlation between human and mouse embryo was observed. Conclusion This study provides insight into the molecular mechanism underlying lnc RNA involve ment in human pre-implantation embryonic development.

关键词： RNA Identification and functional analysis of long non-coding RNAs in human and mouse early embryos based on single-cell transcriptome data

来源：评论

学校读者我要写书评

暂无评论

没有更多数据了...

全选清除本页清除全部题录导出标记到“检索档案”

共55页 << < 38 39 40 41 42 43 44 45 46 47 > >>

检索报告对象比较合并检索0

隐藏清空

合并搜索

回到顶部

执行限定条件

内容：

评分：

请选择保存的检索档案：

请选择收藏分类：

订阅名称：

通借通还

温馨提示：

图书名称：

借书校区：

取书校区：

手机号码：

邮箱地址：

一卡通帐号：

电话和邮箱必须正确填写，我们会与您联系确认。

联系人：

所在院系：

联系邮箱：

联系电话：

内蒙古自治区呼和浩特市赛罕区大学西街235号邮编: 010021

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：