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TranscriptomicsTranscription profiling of human peripheral blood from healthy and predisposed individuals reveals a homozygouse germline mutation in the DDB2 gene in a patient with severe facial tumors
Characterization of the underlying genetic defects in patients with a rare and peculiar phenotype is challenging. Here we have utilized whole genome expression profiling, and identified a homozygous germline mutation in the DDB2 gene in a patient with several facial tumors. The feasibility of using ...
ORGANISM(S): Homo sapiens 
2008-06-14 | E-GEOD-6351 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of human colorectal serrated adenocarcinomas and conventional adenocarcinomas reveals they are a molecular subclass as well as morphologically distinct
Serrated adenocarcinomas are morphologically different from conventional adenocarcinomas. The serrated pathway has recently been proposed to represent a novel mechanism of colorectal cancer (CRC) formation. However, whether they are biologically different and truly form a distinct subclass of CRC, i...
ORGANISM(S): Homo sapiens 
2007-10-27 | E-GEOD-4045 | biostudies-arrayexpress
GenomicsA Comprehensive Catalogue of Somatic Mutations from a Human Cancer Genome
We have carried out complete sequencing of the genome of the human male maligant melanoma cell line COLO-829 using the Illumina Genome Analyzer II. We generated a sequencing library with a median insert size of ~200 bp following random fragmentation and gel fractionation of the genomic DNA. We seque...
EGAS00000000052 | EGA
TranscriptomicsTranscription profiling of blood from human pituitary adenoma predisposition (PAP) patients to characterize the genetic basis of low penetrance tumor susceptibility
While identification of genes mutated in high penetrance tumor predisposition syndromes has been a success story, much less progress has been made in characterizing the genetic basis of low penetrance tumor susceptibility. Combining recently introduced chip-based technologies with traditional geneal...
ORGANISM(S): Homo sapiens 
2007-11-11 | E-GEOD-4488 | biostudies-arrayexpress
no omics definedTranscription profiling of yeast with a fumarase point mutation or knock-out to model hereditary leiomyomatosis and renal cell cancer
Effect of fumarase point mutation or knock-out on transcriptional profile in yeast to model hereditary leiomyomatosis and renal cell cancer (HLRCC).
ORGANISM(S): Saccharomyces cerevisiae 
2006-11-29 | E-MEXP-922 | biostudies-arrayexpress
UnknownPersonality traits and physical functioning: a cross-sectional multimethod facet-level analysis.
Not available
S-EPMC7685629 | biostudies-literature
UnknownHabitat detection, habitat choice copying or mating benefits: What drives conspecific attraction in a nomadic songbird?
Not available
S-EPMC10100052 | biostudies-literature
UnknownVaccine efficacy at a point in time.
Not available
S-EPMC10544797 | biostudies-literature
UnknownDe novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
Not available
S-EPMC3573757 | biostudies-literature
UnknownSelfish migrants: How a meiotic driver is selected to increase dispersal.
Not available
S-EPMC9311743 | biostudies-literature
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