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TranscriptomicsThe genomic landscape of pediatric T-cell acute lymphoblastic leukemia reveals novel X-linked somatic mutations associated with apoptosis resistance. [RNA-Seq]
Background. T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematological malignancy with a dismal prognosis. It represents 15% of pediatric ALL and has a threefold higher incidence among males. T-cell transformation is a multi-step process involving cooperating events leading to altere...
ORGANISM(S): Homo sapiens 
2016-03-02 | E-GEOD-78785 | biostudies-arrayexpress
TranscriptomicsProspective comparison of genome-wide aCGH platforms for the detection of CNVs in MR (Mapping250K_Nsp and Mapping250K_Sty)
Clinical laboratories are adopting array comparative genomic hybridization (AGH) as a standard clinical test. A number of whole genome AGH systems are available, but little is known about the comparative performance in a clinical context. We prospectively studied 30 children with idiopathic MR and ...
ORGANISM(S): Homo sapiens 
2011-02-17 | E-GEOD-27216 | biostudies-arrayexpress
TranscriptomicsTargetted Microarray Testing for Intellectual Disability Provides Diagnoses and Identifies Novel Candidate Genes
We designed a microarray to test at exonic resolution for genomic imbalance for genes representative of all known chromosomal microdeletion/microduplication syndromes, all known causative genes for ID, all known genes encoding glutamate receptors and their known encoding proteins and all known genes...
ORGANISM(S): Homo sapiens 
2012-07-23 | E-GEOD-39533 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of human children with mental retardation and immediate family members
The cause of mental retardation in one-third to one-half of all affected individuals is unknown. Microscopically-detectable chromosomal abnormalities are the most frequent recognized cause, but gain or loss of chromosomal segments that are too small to be seen by conventional cytogenetic analysis ha...
ORGANISM(S): Homo sapiens 
2008-06-21 | E-GEOD-7226 | biostudies-arrayexpress
TranscriptomicsProspective comparison of genome-wide aCGH platforms for the detection of CNVs in MR (NimbleGen)
Clinical laboratories are adopting array comparative genomic hybridization (AGH) as a standard clinical test. A number of whole genome AGH systems are available, but little is known about the comparative performance in a clinical context. We prospectively studied 30 children with idiopathic MR and ...
ORGANISM(S): Homo sapiens 
2011-02-17 | E-GEOD-27251 | biostudies-arrayexpress
TranscriptomicsProspective comparison of genome-wide aCGH platforms for the detection of CNVs in MR (Agilent 244K)
Clinical laboratories are adopting array comparative genomic hybridization (AGH) as a standard clinical test. A number of whole genome AGH systems are available, but little is known about the comparative performance in a clinical context. We prospectively studied 30 children with idiopathic MR and ...
ORGANISM(S): Homo sapiens 
2011-02-17 | E-GEOD-27229 | biostudies-arrayexpress
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