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Array comparative hybridization (array-CGH) for detection of gene dose alterations in VACTERL association [4x180k Array v.025990]

ChEBI2014-06-01 更新2026-07-21 收录

先天性畸形遗传学

染色体拷贝数检测

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-51957 数据链接链接失效反馈

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资源简介：

Array comparative hybridization (array-CGH) for detection of gene dose alterations in VACTERL association [4x180k Array v.025990]

应用场景：

创建时间：

2014-06-01

疾病关联分析

先天性畸形遗传学

SUPPLEMENTARY TABLE 1: ASSOCIATION ANALYSIS BETWEEN SNPs FOR PEMT GENE AND NSCL/P IN THE CHILEAN POPULATION

DataCite Commons2024-05-16 更新60

An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations (RNA-Seq)

先天性畸形遗传学

群体遗传学

Microtia is a congenital malformation that encompasses mild hypoplasia to complete loss of the external ear, or pinna. Although contribution of genetic variation and environmental factors to microtia

NIAID Data Ecosystem50

An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations (scRNA-Seq). An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations (scRNA-Seq)

先天性畸形遗传学

单细胞转录组学

Microtia is a congenital malformation that encompasses mild hypoplasia to complete loss of the external ear, or pinna. Although contribution of genetic variation and environmental factors to microtia

NIAID Data Ecosystem40

PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile. Supplementary Table.

遗传关联研究

先天性畸形遗传学

SUPPLEMENTARY TABLE 1: ASSOCIATION ANALYSIS BETWEEN SNPs FOR PEMT GENE AND NSCL/P IN THE CHILEAN POPULATION

DataCite Commons2024-05-17 更新50

The 19-bp deletion polymorphism of dihydrofolate reductase (DHFR) and nonsyndromic cleft lip with or without cleft palate: evidence for a protective role

先天性畸形遗传学

叶酸代谢与出生缺陷

Objective Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) are among the most common congenital birth defects worldwide. Several lines of evidence point to the involvement of folate, as

NIAID Data Ecosystem40

Array comparative hybridization (array-CGH) for detection of gene dose alterations in VACTERL association [4x180k Array v.025990]

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