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461-470 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：

EFFECT OF PH ON THE DEVELOPMENT OF EMBRYOS IN VITRO UNDER THE INFLUENCE OF TEMPERATURE, OSMOLARITY AND OXYGEN.

EFFECT OF PH ON THE DEVELOPMENT OF EMBRYOS IN VITRO UNDER TH...

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 WEI HENAN PROVENCIAL PEOPLES HOSPITAL

Objective It is crucial for IVF laboratories to reduce the stress upon embryos for optimizing the in vitro culture environment. The term of p H is one of the parameters influencing the embryo development and is complex to define what the optimal range is. The primary objectives of this study was to explore the effect of differing p H conditions on embryos developments under the other three variables including temperature, oxygen tension and osmolarity. Moreover, this plan also aims to examine the interactions of these four environmental variables. Method In this experimental study, multifactorial design was worked out including 30 different treatment combinations of 4 parameters;temperature, osmolarity, p H and oxygen. There were three different p H, temperature, osmolarity and two different oxygen tensions involved in the plan. The treatment combinations are randomized by Latin square design and separated into three groups to avoid operator variability. The original p H of the Global? medium was used as control treatment condition(p H2 Osm2) and then also used to set up lower and higher conditions. Culture medium preparation and modification were carried out every week. For osmolarity modification, S3 solution and sterile water were used to set higher and lower osmolarity. The source of mouse embryos used in this study was commercialized to avoid potential staring variability. Minc TM incubator was switched between different temperatures and oxygen tensions to culture embryos from different treatment conditions with constant carbon dioxide concentration. The developmental stages of embryos were recorded with blastocysts were qualified on day 5. Blastocysts were stained and visualized under Eclipse 90 i(Nikon) at the end of each experimental week. The experimental plan was completed by a group of 4 operators within 6 weeks. Result On day 5, the number of blastocysts was recorded and all of them were evaluated using the scoring system described by Gardner‘s and Schoo

关键词： EFFECT OF PH ON THE DEVELOPMENT OF EMBRYOS IN VITRO UNDER THE INFLUENCE OF TEMPERATURE OSMOLARITY AND OXYGEN

来源：评论

学校读者我要写书评

暂无评论

Mutations in lens-specific genes: cataract and beyond

Mutations in lens-specific genes: cataract and beyond

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

Objective Mutations in lens-specific genes have been frequently reported to play major roles in th e development of congenital cataracts. So far, a number of mutations in these genes have been r eported, including those identified in our patients with cataract. Based on analysis of data from wh ole exome sequencing on 1629 probands with different forms of hereditary eye diseases, a numb ers of novel variants predicted to be damaging were identified. This study aims to clarify the relati onships between different variations in these genes and varied phenotypes in different patients. Method Variations in 32 genes known to cause isolated or primary congenital cataracts were sele cted from the dataset of whole exome sequencing for 1629 probands. After exclusion of polymor phisms and benign variants, rare variants predicted to be damaging were thoroughly analyzed ba sed on existing databases and associated phenotypes. Predicted damaging but unlikely causativ e variants will be summarized. Result Some mutations reported to cause cataracts were detected in patients without cataracts. Some rare damaging variants in these gene may not be causative. Rare variants in some genes are more likely to be pathogenic while such variants in other genes are ambiguous. Classification of these genes and its associated variants are suggested for variants-based genetic counseling. Conclusion Visible clear lens provides valuable model in evaluating effect of a variant on lens str ucture(transparency). Clarifying gene-or variant-specific genotype-phenotype is the prerequisite in making precision genetic counseling. International collaborative studies on such kind of data, pr obably through AEGC or other societies, may be of great help in differentiating rare variants from pathogenic mutations in lens-specific genes responsible for congenital cataracts.

关键词： Mutations in lens-specific genes cataract and beyond

来源：评论

学校读者我要写书评

暂无评论

Association of CDKN2B-AS1 rs1333049 with brain diseases: a case-control study and a meta-analysis

Association of CDKN2B-AS1 rs1333049 with brain diseases: a c...

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： Huang Yi Zhao Jikuang Nie Sheng Gao Xiang Sun Jie Department of Neurosurgery Ningbo First Hospital Ningbo Hospital of Zhejiang University

Objective CDKN2 B-AS1 polymorphisms were shown to associate with the risk of stroke in Europ ean. The goal of this study was to evaluate the contribution of CDKN2 B-AS1 rs1333049 to the ris k of hemorrhagic stroke(HS) and brain tumor(BT) in Han Chinese. Method A total of 142 HSs, 115 BTs, and 494 controls were included in the current association st udy. The genotyping test was performed using the melting temperature shift(Tm-shift) method. Result We failed to validate the association of CDKN2 B-AS1 rs1333049 with the risk of brain dis ease. Significantly higher levels of LDL-C(P = 0.027), HDL-C(P < 0.001) and TC(P < 0.001) wer e found in HSs in the genotype GG/GC carriers, but not the genotype CC carriers(P > 0.05). The meta-analysis of 10 studies among 13,3993 individuals concluded that rs1333049 of CDKN2 B-AS1 gene was likely to increase a 16% incidence rate of cerebrovascular disease(CD) among vario us populations(OR = 1.16, 95%CI = 1.08-1.25, P < 0.0001, random-effect method). Conclusion In conclusion, our case-control study identified rs1333049 genotypes showed differe nt association with the concentration of the LDL-C, HDL-C and TC in the HS patients. Meta-analy sis supported the association between rs1333049 and CD risk in various populations, although w e were unable to observe association between rs1333049 and the risk of HSs in Han Chinese.

关键词： Association of CDKN2B-AS1 rs1333049 with brain diseases a case-control study and a meta-analysis

来源：评论

学校读者我要写书评

暂无评论

The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age

The carrier rate and mutation spectrum of genes associated w...

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 Chang Zhang Yan Wu Jing Ding Hongke Mai Mingqin Zeng Yukun Liu Ling Yin Aihua Medical Genetic Center Guangdong Women and Children Hospital Maternal and Children Metabolic-Genetic Key Laboratory Guangdong Women and Children Hospital

Objective Considering the fact that hearing loss occurs in 1 to 3 of 1,000 live births and approxim ately 90 to 95 percent of them are born into hearing families, it is of importance and necessity to g et better understanding about the carrier rate and mutation spectrum of genes associated with he aring impairment in the general population. Method 32,497 unrelated women of childbearing age with normal hearing and without family hist ory of hearing loss were tested with allele-specific PCR-based universal array. Further genetic tes ts were provided to the spouses of the screened carriers. For those couples at risk, multiple choic es were provided, including prenatal diagnosis. Result Among the 32,497 normal hearing participants, 1,181 subjects carried pathogenic mutatio ns included in the screening chip, which made the carrier rate 3.63%. Of the 1,181 screened carri ers, 1,117 harbored heterozygous mutated genes associated with autosomal recessive hearing loss, and 735 spouses took further genetic tests. 44 out of the 47 couples harbored deafness-causi ng mutations in the same gene received prenatal diagnosis. Conclusion Given that nearly 90 to 95 percent of deaf and hard-of-hearing babies are born into h earing families, better understanding about the carrier rate and mutation spectrum of genes assoc iated with hearing impairment in the female population of childbearing age may be of importance i n carrier screening and genetic counseling.

关键词： The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age

来源：评论

学校读者我要写书评

暂无评论

Pathological Effects of the FMR1 CGG-Repeat Polymorphism(5-55 Repeat Numbers): Systematic Review and Meta-Analysis

Pathological Effects of the FMR1 CGG-Repeat Polymorphism(5-5...

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： Yang Wenjing Fan Cuihua Chen Liangyuan Cui Zhaolei Bai Ye Lan Fenghua Fuzhou General Hospital

Objective The fragile X mental retardation 1(FMR1) gene contains a highly polymorphic trinucle otide(CGG) repeat and consists of various allelic forms. Traditionally, 55-200 repeats and over 200 CGG repeats have been highlighted to be associated with ovarian dysfunction and neuro-psyc hiatric risks. However, previous studies had paid little attention to the allelic forms of 5-55 CGG re peats. Method Herein, we sought to evaluate the pathological features of FMR1 allelic category with a r ange of 5-55 CGG repeats. We further classified the spectrum of CGG sizes(5-55 repeats) into t hree sub-groups as low numbers of CGG repeat(< 26 repeats), normal CGG count(26-34 repeat s), and small CGG expansion(35-54 repeats). Result Our systematic review documented that low numbers of CGG repeat(< 26 repeats) reveal ed a close relationship with premature ovarian failure. Correspondingly, the meta-analysis showe d that small CGG expansion, involving allelic sizes with 35-54(n = 8, OR = 1.22, 95% CI:0.75-2.00, P > 0.05) and 41-54(n = 7, OR = 1.62, 95% CI: 1.14-2.30, P < 0.05), was both linked to the ris k of ovarian dysfunction. Additionally, small CGG expansion exerts significant influence on male Parkinsonism cohorts(OR = 2.17, 95% CI: 1.50-3.14, P < 0.05), mental retardation, and repeat instability. Conclusion Our data provide evidence that the CGG-repeat numbers below 26 or above 34 of FMR1 gene are also associated with disease risks and thus should be regarded as pathological genotypes for a routine test.

关键词： CGG Pathological Effects of the FMR1 CGG-Repeat Polymorphism Repeat Numbers Systematic Review and Meta-Analysis FMR

来源：评论

学校读者我要写书评

暂无评论

Association of gene polymorphisms of FV, FII, MTHFR, SE RPINE1, CTLA4, IL10 and TNFalpha with preeclampsia in Chinese women

Association of gene polymorphisms of FV, FII, MTHFR, SE RPIN...

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： zhou lu Zhang hanyu Liu yinglin Maternal and children's hospital of Shenzhen

Objective Pre-eclampsia(PE) is the occurrence of a hypertensivedisorder complicating pregnanc y,It is a multi-system disorder characterized by hypertension and proteinuria after the 20 th weeks of gestation PE affects 2-8% of all pregnancies *** exact causes of PE remain largely unknown though PE has been reported tobe associated with abnormal placental implantation, an giogenic factors,vasoconstriction, and genetic predisposition, as well as immunologic intolerance between the fetus,the mother and the *** immune responses of the host include coagul ation, fibrinolysis, and *** diseases are associated with inflammatory and coag ulation *** systems have been shown to be involved in PE,but the exact relationships among them are complex and far from being understood. Some genetic polymorphisms have al so been identified as susceptibility factors for PE, and somepolymorphisms in immune system ge nes were shown to increase the PE ***, previous studies showed that PE might be the re sult of thrombotic events that involve several functional *** addition, polymorphisms of thes e genes have been proposed as possible risk factors for PE. Many clinical studies also demonstr ated that maternal plasma levels of these inflammatory cytokines are associated with PE. Gene p olymorphisms also participate in regulation of the plasma levels of cytokines. The susceptibility to PE is a complex trait and is modulated by genes and the environment, but the exact associations between PE and specific polymorphisms remain controversial because of the heterogeneity of the ethnic, clinical, and genetic characteristics of the populations being ***, the numbe r of genes and polymorphic sites could be large, whereas most of the association studies focused on a small number of single nucleotide polymorphisms(SNPs), which did not depict the complex nature of *** on previous studies, this study investigate the association o

关键词： IL10 and TNFalpha with preeclampsia in Chinese women CTLA4 FII SE RPINE1 MTHFR Association of gene polymorphisms of FV

来源：评论

学校读者我要写书评

暂无评论

Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy

Evaluation and comparison of three assays for molecular dete...

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 Liang Zhou Wan-Jun Fang Ping Zhong Ze-Yan Xie Jian-Sheng Yan Ti-Zhen Zeng Jian Tan Xu-Hui Xu Xiang-Min Department of Medical Genetics School of Basic Medical Sciences Southern Medical University Prenatal Diagnosis Center Shenzhen Maternity and Child Healthcare Hospital Shenzhen GuangdongPeople's Republic of China Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital Department of Clinical Laboratory The Fuzhou General Hospital Nanjing Military Command Department of Biostatistics School of Public Health and Tropical Medicine Southern Medical University

Objective Spinal muscular atrophy(SMA) is mainly caused by the deletions in the SMA related genes. The objective of this study was to developed gene-dosage assays for diagnosing SMA. Method A multiplex, quantitative PCR assay and a CNVplex assay were developed for determining the copy number of SMN1, SMN2 and NAIP. Reproducibility and specificity of the two assays were compared to an MLPA assay. To evaluate reproducibility, 30 samples were analyzed three times by the three assays. A total of 317 samples were used to assess the specificity of the two assays. Result The multiplex quantitative PCR assay had higher reproducibility. Intra-assay CVs were 3.01% to 8.52% and inter-assay CVs were 4.12% to 6.24%. The CNVplex assay had ratios that were closer to expected(0.49 to 0.5 for 1 copy, 1.03 to 1.0 for 2 copies and 1.50 to 1.50 for 3 copies). Diagnostic accuracy rates for the two assays were 100%. Conclusion The multiplex q PCR assay was a simple, rapid and cost-effective method for routine SMA diagnosis and carrier screening. The CNVplex assay could be used for detecting SMAs with complicated gene structures. The assays were reliable and could be used as alternative methods for clinical diagnosis of SMA.

关键词： Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy SMA

来源：评论

学校读者我要写书评

暂无评论

Detecting novel gene mutations in Usher syndrome families by next generation sequencing technology

Detecting novel gene mutations in Usher syndrome families 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： Yan Tizhen Li Wugao Tang Xiangrong Li Zhetao Wang Lin Mo Lian Huang Jiwei Yang Yan Cai Ren Tang Ning Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Hearing Liuzhou Municipal Maternity and Child Healthcare Hospital

Objective Usher syndrome(USH) is an autosomal recessive disorder characterized by hearing impairment and vision dysfunction due to retinitis pigmentosa. Phenotypic and genetic heterogeneities of this disease make it impractical to obtain a genetic diagnosis by conventional Sanger sequencing. Method This study explored an approach for detecting disease-causing genetic mutations in candidate genes in 25 cases from unrelated USH families based on targeted next-generation sequencing(NGS) technology. Through systematic data analysis using an established bioinformatics pipeline, all variants that passed filter criteria were validated by Sanger sequencing and co-segregation analysis. Result 44 pathogenic mutations in the USH disease genes were identified in the 25 USH families. We identified 7 novel mutations in CDH23 gene, 9 novel mutations in GPR98 gene, 2 novel mutations in MYO7 A gene, one mutations in PCDH15 gene, one mutations in USH1 C gene, and 12 novel mutations in USH2 A gene. All novel variations segregated with the disease phenotypes in their respective families and were absent from ethnically matched control individuals. Conclusion Targeted exome sequencing precisely and rapidly identified the genetic defects in 25 Chinese USH families and this technique can be applied as a routine examination for these disorders with significant clinical and genetic heterogeneity.

关键词： Detecting novel gene mutations in Usher syndrome families by next generation sequencing technology

来源：评论

学校读者我要写书评

暂无评论

Interpretation of four clinical NRXN1 deletion cases: case report and literature review

Interpretation of four clinical NRXN1 deletion cases: case r...

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： Yao Ruen Shanghai Children's Medical Center

Objective NRXN1 deletion has been detected in various kinds of neurologic associated disorders, such as autism and mental retardation syndromes, schizophrenia, and Pitt-Hopkins-Like Syndro me. Although hundreds of NRXN1 deletions with different size and exon distribution have been re ported to date, classification and interpretation of these variants has not reached a consensus yet. Method Chromosomal microarray analysis was performed on DNA extracted from patients periph eral blood using commercially available arrays(Cyto Scan? HD array, Affymetrix, USA) according to manufacturer‘s protocol. The UCSC Genom e Browser database(GRCh37/hg19, Feb. 2009) and our in-house array database were used as r eference of structural variations identified in healthy human samples. Result All 4 patients carried a deletion in the NRXN1 gene but with different coverage of exons. T wo of the deletions were located in the 5 th intron without any exon overlap while the other 2 deleti ons encompassed one and four exons respectively. The size of the 4 variants ranged from 38 kb t o 187 *** case with deletion of the exon should be interpreted as pathogenic and intronic delet ion cases should be categorized as likely benign and further investigation of the genome is requir ed for these two patients. Conclusion NRXN1 deletion cannot be easily classified by size or content of the variants. Hetero geneity of the penetrance and variable population polymorphism should be taken into considerati on in each clinical case. Inheritance pattern of the deletion and detailed phenotype of pedigree m embers can help to make a more authentic interpretation. Investigation of sequence variants of N RXN1 and the detection of second copy-number variants(CNV) in the genome also helps in thes e cases. Since exonic deletion is often considered pathogenic, intronic deletion should be categorized as likely benign unless another allelic aberration is detected.

关键词： Interpretation of four clinical NRXN1 deletion cases case report and literature review

来源：评论

学校读者我要写书评

暂无评论

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome

A de novo duplication of chromosome 9q34.13-qter in a fetus ...

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 jing hu hao ma na jia zhengjun zhou yuchun hu jiancheng wang hua Prenatal Diagnosis Center of Hunan Province The Maternal and Child Health Care Hospital of Hunan province

Objective A 23-year-old woman was referred for genetics counseling and prenatal diagnosis at 25 weeks of gestation due to her male fetus, diagnosed as Tetralogy of Fallot Syndrome(TOF) by prenatal ultrasound. In order to access the outcome of her present pregnancy, genetic diagnoses were performed to the fetus. Method 320-400 banded karyotype and Single nucleotide polymorphism array were done to the f etus. Meanwhile, non-invasive prenatal testing(NIPT) using low coverage whole genome massiv ely parallel sequencing of circulating cell-free fetal DNA(cff DNA) was also performed. Multiple lig ation-dependent probe amplification(MLPA) was followed up to ascertain the result of SNP array. Result SNP array revealed the the male fetus had a de novo 5.47 Mb duplication at 9 q34.13-qter. Meanwhile, NIPT showed consistent result. MLPA also confirmed the duplication at 9 qter. Conclusion In this paper, we present an Asian fetus with TOF caused by a de novo 5.47 Mb dupli cation at 9 q34.13-qter. Duplication of 9 q34.13-qter should be considered as an etiological diagno sis in the case of TOF. Our prenatal diagnostic findings provide important information foe genetic counseling on the male fetus and future pregnancies in this family. Chromosomal microarray anal ysis(CMA) remains the first-tier clinical diagnostic test for prenatal fetus with suspicious syndrom es. We also highlight the high potential application of NIPT in the screening of sub-chromosomal r earrangement.

关键词： A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome

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 << < 43 44 45 46 47 48 49 50 51 52 > >>

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：