Haplotype-based noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma sequencing. Homo sapiens

NIAID Data Ecosystem2026-03-07 收录

无创产前诊断

先天性肾上腺增生症

数据链接：

https://www.ncbi.nlm.nih.gov/bioproject/PRJNA209404 数据链接链接失效反馈

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资源简介：

The aim of this study was to demonstrate the feasibility of the haplotype-based noninvasive method for prenatal diagnosis of congenital adrenal hyperplasia

创建时间：

2013-06-25

Supplementary data for: National service evaluation of the quality of care for children and young people with congenital adrenal hyperplasia in the United Kingdom: survey responses from patients and clinicians

医疗服务评估

先天性肾上腺增生症

A national service evaluation into the satisfaction of services provided for those with Congenital Adrenal Hyperplasia. Includes supplementary material (.pdf and .docx) and blank questionnaires.

DataCite Commons2025-03-07 更新80

2016-2021基因组病诊断及产前检测数据北京市数据

无创产前诊断

基因组

数据来源为国家重点研发计划常见单基因病及基因组病无创产前筛查及诊断技术平台研发及规范化应用体系建立（儿童常见基因组病无创产前诊断规范化平台的建立和推广）（项目编号： 2016YFC1000700（课题编号2016YFC1000707））原计划提交1500例，实际提交2000例基因组病数据，采集时间为2016年12月-2021年7月，大小2T。采集地点为北京。对于产检异常且不排除基因组病

国家人口健康科学数据中心60

先天性肾上腺增生症

服务质量评估

A national service evaluation into the satisfaction of services provided for those with Congenital Adrenal Hyperplasia. Includes supplementary material (.pdf and .docx) and blank questionnaires.

DataCite Commons2025-03-07 更新40

Supplementary Material for: Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia

类固醇激素

先天性肾上腺增生症

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to accumulation of steroid precursors and adrenal androgens. These steroids may have a biological

DataCite Commons2020-09-02 更新80

Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis. Duchenne muscular dystrophy linked-read sequencing

无创产前诊断

单倍型分型

For the noninvasive prenatal diagnosis (NIPD) of X-linked recessive diseases such as Duchenne muscular dystrophy (DMD), maternal haplotype phasing is a critical step for dosage analysis of the inherit

NIAID Data Ecosystem50

Haplotype-based noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma sequencing. Homo sapiens

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