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资源简介：
Targeted Sequencing of Chromosome X Exome in Human Males with X-linked Intellectual Disability
应用场景：
创建时间：
2014-05-27
相关数据集
Table_1_Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.XLSX
Families with multiple male children with intellectual disability (ID) are usually suspected of having disease due to a X-linked mode of inheritance and genetic studies focus on analysis of segregatin
NIAID Data Ecosystem80
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (zebrafish). Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (zebrafish)
Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original
NIAID Data Ecosystem30
X chromosome-specific Array-CGH of XLMR patient
Mental retardation (MR) is a non-progressive cognitive impairment affecting 2 to 3% of the Western population. So far, point mutations and subtle deletions and insertions have been shown to represent
NIAID Data Ecosystem20
Array-CGH analysis of X chromosome of XLMR patient
Array-CGH analysis of X chromosome of XLMR patient Keywords: comparative genomic hybridization Comparison of 6 patient samples in 2 dyes; samples XY1, Xy2, and XY3 can be considered as control samples
NIAID Data Ecosystem60
Additional file 10: of Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability
Genotypes obtained from the sequencing data of the targeted tandem repeats in three families with X-linked intellectual disability. (XLSX 2711 kb)
NIAID Data Ecosystem30
