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Homozygosity mapping in a consanguineous family with osteogenesis imperfecta (OI)

ChEBI2010-11-01 更新2026-07-21 收录

遗传病基因定位

成骨不全症

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-21958 数据链接链接失效反馈

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资源简介：

Homozygosity mapping in a consanguineous family with osteogenesis imperfecta (OI)

应用场景：

创建时间：

2010-11-01

成骨不全症

手术分析

Supplementary Material 24: Appendix Table 20. Pairwise analysis p-values for OI surgeries undertaken in lifetime. This table provides a comprehensive overview of p-values obtained from pairwise analys

DataCite Commons2024-08-15 更新100

Additional file 4 of The IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults

成骨不全症

健康影响评估

Supplementary Material 4

DataCite Commons2024-11-29 更新70

Table S1, Table S2, Table S3

心脏表型分析

成骨不全症

Supplemental Tables for manuscript " Cardiac Health, Type I Collagen, and Aging in the oim/oim Mouse Model of Osteogenesis Imperfecta (OI) and a Cohort of Adults with OI"

Figshare2025-01-31 更新60

A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17

遗传病基因定位

原发性开角型青光眼

Closed breeding populations in the dog in conjunction with advances in gene mapping and sequencing techniques facilitate mapping of autosomal recessive diseases and identification of novel disease-cau

NIAID Data Ecosystem90

Reiterative infusions of MSCs improve pediatric Osteogenesis Imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial

成骨不全症

间充质干细胞

Osteogenesis Imperfecta (OI) is a genetic, rare disease characterized by bone fragility, with a wide range in the severity of clinical manifestations. The majority of the cases are due to mutations in

NIAID Data Ecosystem60

Homozygosity mapping in a consanguineous family with osteogenesis imperfecta (OI)

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