Paternal segmental isodisomy of centromeric region on chromosome 1 as a cause of juvenile hemochromatosis

ChEBI2014-01-30 更新2026-07-21 收录

遗传性铁代谢疾病

染色体异常

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-50441 数据链接链接失效反馈

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资源简介：

Paternal segmental isodisomy of centromeric region on chromosome 1 as a cause of juvenile hemochromatosis

创建时间：

2014-01-30

碳酸酯-1的体外哺乳动物细胞染色体畸变分析数据

毒理学

染色体异常

采集了化学品毒性数据，通过分类筛选并结合毒性机理和毒理数据分析得到用于计算的源物质信息，应用到碳酸酯-1的体外哺乳动物细胞染色体畸变计算，分析得出碳酸酯-1对体外哺乳动物细胞染色体畸变各类指标的科学数据，为进一步的毒性评估和安全性分析提供了依据，例如可用于该化学品在世界各国进行化学品注册或登记时的毒性分析依据。（1）数据来源：使用 QSAR Toolbox 软件，从该软件数据库中采集物质和毒性数据

浙江省数据知识产权登记平台2025-12-31 更新150

Summary of individuals with isolated 1p36 deletions and cardiovascular malformations identified from the DECIPHER database.

染色体异常

血管畸形

= Deletion defines a cardiac critical region.

Figshare2015-12-02 更新50

Comparison of clinical outcomes from baseline analysis of the two screening approaches in a general screening population.

筛查评估

染色体异常

NIPT, non-invasive prenatal testing * 70% of total affected pregnancies (30% receive no screening). † Assuming termination rates for trisomy 21, trisomy 18, trisomy 13, and monosomy X of 87%, 81%, 90%

NIAID Data Ecosystem40

Recurrent genomic instability of chromosome 1q in neural derivatives of human embryonic stem cells. Homo sapiens

细胞基因组不稳定性

染色体异常

array-CGH analysis of human neural stem cells derived from human ES cells during long term in vitro culture Overall design: array-CGH analysis of human neural stem cells derived from human ES cells co

NIAID Data Ecosystem50

Summary of FISH results for all AML paediatric patients reported in this study.

AML（急性髓系白血病）

染色体异常

*The percentage of cells presenting CNAs is indicated, taking into account the cut-off levels established using normal controls. In brackets: cut off levels (mean % of control ±2x st dev). The values

Figshare2011-06-09 更新40

Paternal segmental isodisomy of centromeric region on chromosome 1 as a cause of juvenile hemochromatosis

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