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Expression profiles of amniotic fluid from human fetuses with Down syndrome and euploid controls

ChEBI2009-05-21 更新2026-07-21 收录

产前基因诊断

唐氏综合征生物标志物

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-16176 数据链接链接失效反馈

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资源简介：

Expression profiles of amniotic fluid from human fetuses with Down syndrome and euploid controls

应用场景：

创建时间：

2009-05-21

产前基因诊断

家庭三重测序

The genome sequence data of NIPD trio #1, including the genome sequencing of the father (PB), mother (blood cell), the offspring (cord blood) and the maternal plasma at GW of 13.

NIAID Data Ecosystem40

Table_1_Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis.DOCX

遗传病基因突变

产前基因诊断

Nonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF re

NIAID Data Ecosystem20

Assessment of NGS-miniSTR as a new detection strategy for chromosomal trisomy in prenatal diagnosis

产前基因诊断

染色体三体

Table S1. Raw miniSTR data on chromosome 16 for 70 trisomy and 70 normal karyotypes from the fetal materials in miscarriages. Table S2. Raw miniSTR data on chromosome 16, miniSTR profiling and CN

NIAID Data Ecosystem00

Supplementary Material for: Evaluating the implementation of the rapid prenatal exome sequencing (pES) service in England

产前基因诊断

医疗系统评估

Introduction In October 2020, a national rapid prenatal exome sequencing (pES) service was rolled out across the English National Health Service (NHS). This service is delivered by multiple clinical a

NIAID Data Ecosystem30

Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome

产前基因诊断

基因表达谱分析

Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome

ChEBI2014-06-13 更新00