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TranscriptomicsA genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
Molecular cytogenetic techniques such as microarray analysis have allowed for a “genotype-first” approach to the characterization of chromosome abnormalities: in the absence of clinical features suggestive of a specific syndrome, patients with similar copy number imbalances can be examined for commo...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-21536 | biostudies-arrayexpress
TranscriptomicsRecurrent 17q23.2 microdeletion flanked by segmental duplications associated with heart defects and limb abnormalities
[original title] Identification of recurrent microdeletion on 17q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Segmental duplications, are known to mediate non-allelic homologous recombination and have been suggested to be hotspots in chromosome evolut...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-19932 | biostudies-arrayexpress
UnknownThe major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
Not available
S-EPMC3235490 | biostudies-literature
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