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TranscriptomicsSNP arrays to confirm X-linkage in a family with idiopathic intellectual disability
L061 family with idiopathic non-syndromic intellectual disability remained unsolved after targeted screening of ID-related genes, array-CGH and exome sequencing. In order to perform custom tandem repeat screening on the X chromosome by long read single molecule sequencing, X-linkage needed to be con...
ORGANISM(S): Homo sapiens 
2017-12-01 | E-MTAB-5903 | biostudies-arrayexpress
TranscriptomicsRNA-seq in a patient with idiopathic X-linked intellectual disability compared to healthy controls with normal mir222 expression
In the L020 family with idiopathic non-syndromic X-linked intellectual disability, one repeat expansion co-occurs with down-regulation of the neighboring MIR222 gene. RNA was sequenced in the proband and three controls to detect what other genes might be affected by the altered MIR222 expression.
ORGANISM(S): Homo sapiens 
2017-12-01 | E-MTAB-5904 | biostudies-arrayexpress
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