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复旦大学上海医学院 [11]
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中国科学院大学 [4]
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期刊论文 [43]
学位论文 [1]
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浏览/检索结果:
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Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
期刊论文
Genetics in Medicine, 2019
作者:
Desheng Liang
;
David S. Cram
;
Hu Tan
;
Siyuan Linpeng
;
Yingdi Liu
收藏
  |  
浏览/下载:105/0
  |  
提交时间:2019/12/13
22q11.2 microdeletions
copy-number variation (CNV)
microdeletion/microduplication syndromes (MMS)
noninvasive prenatal screening
positive predictive value (PPV)
Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome
期刊论文
2019, 卷号: 18, 期号: 2, 页码: 261-265
作者:
Baig, Shahid Mahmood
;
Fatima, Ambrin
;
Tariq, Muhammad
;
Khan, Tahir Naeem
;
Ali, Zafar
收藏
  |  
浏览/下载:30/0
  |  
提交时间:2020/01/03
Constitutional mismatch repair deficiency (CMMRD) syndrome
Hereditary brain tumor
Prenatal diagnosis
Genetic counseling
PMS2
Prenatal limb defects Epidemiologic characteristics and an epidemiologic analysis of risk factors
期刊论文
MEDICINE, 2018, 卷号: 97, 期号: 29
作者:
Shi, Yue
;
Zhang, Bin
;
Kong, Fanbin
;
Li, Xilian
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/05
fetal limb deformity
high-risk pregnant women
screening
ultrasound
Non-invasive prenatal screening for fetal aneuploidy in twin pregnancies by cell-free DNA analysis
期刊论文
CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY, 2018, 卷号: Vol.45 No.5, 页码: 656-660
作者:
Chen, Yun
;
Lai, Yunli
;
Yi, Shang
;
Tang, Yanqing
;
Lei, Yaqin
收藏
  |  
浏览/下载:11/0
  |  
提交时间:2019/12/26
Twin
pregnancy
Fetal
chromosomal
aneuploidy
Non-invasive
prenatal
screening
Sex
chromosomal
aneuploidy
Steroidogenic factor-1 hypermethylation in maternal rat blood could serve as a biomarker for intrauterine growth retardation
期刊论文
ONCOTARGET, 2017, 卷号: 8, 期号: 56, 页码: 96139-96153
作者:
Wu, Dong-Mei
;
Ma, Liang-Peng
;
Song, Gui-Li
;
Long, Yong
;
Liu, Han-Xiao
收藏
  |  
浏览/下载:149/0
  |  
提交时间:2019/07/03
steroidogenic factor-1 (SF-1)
DNA methylation
intrauterine growth retardation (IUGR)
clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9)
biomarker
Screening of potential biomarkers for prenatal diagnosis of trisomy 21
期刊论文
JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2017, 卷号: 37, 期号: 4
作者:
Yu, Yang
;
Li, Haibo
;
Li, Feng
;
Ma, Ke
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/05
Down syndrome
differentially expressed genes
chromosomal location
protein-protein interaction network
Absence of nasal bone in fetuses with trisomy 21 at second trimester of pregnancy
期刊论文
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2017, 卷号: 10, 期号: 6
作者:
Lin, Ru
;
Zhao, Fangui
;
Li, Jingtao
;
Yan, Yingliu
;
Ren, Yunyun
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2019/12/05
Nasal bone
trisomy 21
sonography
prenatal screening
second trimester
Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing
期刊论文
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2017, 卷号: 13, 页码: 2304-2310
作者:
Qiang, Bong
;
Cai, Na
;
Wang, Xiaobin
;
Wang, Lin
;
Cui, Ke
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/11/26
trisomy
non-invasive prenatal testing
Down's syndrome
prenatal screening
Next-generation molecular diagnosis: single-cell sequencing from bench to bedside
期刊论文
Cellular and Molecular Life Sciences, 2017, 卷号: Vol.74 No.5, 页码: 869-880
作者:
Zhu, W.
;
Zhang, X.-Y.
;
Marjani, S.L.
;
Zhang, J.
;
Zhang, W.
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/02/25
Circulating
tumor
cells
(CTCs)
Liquid
biopsies
Non-invasive
prenatal
diagnosis
(NIPD)
Pre-implantation
genetic
diagnosis
(PGD)
Pre-implantation
genetic
screening
(PGS)
Precision
medicine
Single-cell
analysis
(SCA)
Single-cell
sequencing
(SCS)
Massively Parallel Sequencing (MPS) of Cell-Free Fetal DNA (cffDNA) for Trisomies 21, 18, and 13 in Twin Pregnancies
期刊论文
TWIN RESEARCH AND HUMAN GENETICS, 2017, 卷号: 20, 期号: 3
作者:
Zhang, Yuanzhen
;
Lu, Jing
;
Yao, Yanru
;
Cao, Yuming
;
Feng, Chun
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/05
twin pregnancies
trisomy
prenatal screening
massively parallel sequencing
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