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GenomicsThe complex genetics of hypoplastic left heart syndrome
Congenital heart disease (CHD) is a prevalent birth defect affecting up to 1% of live births. While a genetic etiology is indicated by increased recurrence risk and association with chromosomal abnormalities, the genetics of CHD is poorly understood and likely complex. Here we show hypoplastic left ...
ORGANISM(S): Mus musculus 
2017-04-13 | GSE77799 | GEO
TranscriptomicsTranscription profiling of Drosophila developmental time series
Michelle N. Arbeitman, Eileen E. M. Furlong, Farhad Imam, Eric Johnson, Brian H. Null, Bruce S. Baker, Mark A. Krasnow, Matthew P. Scott, Ronald W. Davis and Kevin P. White. Gene Expression During the Life Cycle of Drosophila melanogaster, Science, 297: 2270-2275, 2002. This work can be accessed fro...
ORGANISM(S): Drosophila melanogaster 
2004-11-06 | E-FLYC-6 | biostudies-arrayexpress
GenomicsThe complex genetics of hypoplastic left heart syndrome
The complex genetics of hypoplastic left heart syndrome
PRJNA311577 | ENA
TranscriptomicsCLCGP
Fresh frozen samples of lung tumors were analyzed. RNA was extracted using Qiagen extraction Mini-Kit. cRNA was prepared using standard Illumina protocols. BeadStudio 3.1.1.0 was used to extract data.
ORGANISM(S): homo sapiens 
2013-10-17 | E-MTAB-1999 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of Drosophila homozygous CP190[1] 0 hour white prepupae (non tubby, red malpighian tubules) homozygous CP190[2] 0 hour white prepupae (non tubby, red malpighian tubules) homozygous red[1] e[1] 0 h white prepupae (source from which the mutated chromosome was obtained)
CP190 is a Drosophila protein of unknown function that exhibits cell cycle-specific localisation to the centrosome during mitosis and the nucleus during the interphase. CP190 associates with multiple sites on polytene chromosomes and its predicted amino acid sequence identifies four C2h2 zinc finger...
ORGANISM(S): Drosophila melanogaster 
2004-04-21 | E-FLYC-1 | biostudies-arrayexpress
TranscriptomicsChildren's Oncology Group Study 9906 for High-Risk Pediatric ALL
PAPER 1:"Identification of novel subgroups of high-risk pediatric precursor B acute lymphoblastic leukemia (B-ALL) by unsupervised microarray analysis: clinical correlates and therapeutic implications. A Children's Oncology Group (COG) study." ABSTRACT We examined gene expression profile...
ORGANISM(S): Homo sapiens 
2009-06-25 | E-GEOD-11877 | biostudies-arrayexpress
TranscriptomicsDietary folate depletion and repletion in C57BL/6J mice, ApoE knockout mice, and choline supplemented C57BL/6J mice
Defects in homocysteine and folate metabolism are associated with increased risks for neural tube and congenital heart defects, cardiovascular disease and stroke, cancers, and neurodegeneration. In many but not all cases, dietary supplementation with folate significantly reduces the severity and in...
ORGANISM(S): Mus musculus 
2008-08-27 | E-GEOD-9243 | biostudies-arrayexpress
TranscriptomicsDietary folate depletion and repletion in A/J and C57BL/6J mice
Defects in homocysteine and folate metabolism are associated with increased risks for neural tube and congenital heart defects, cardiovascular disease and stroke, cancers, and neurodegeneration. In many but not all cases, dietary supplementation with folate significantly reduces the severity and in...
ORGANISM(S): Mus musculus 
2008-08-27 | E-GEOD-9242 | biostudies-arrayexpress
UnknownCritical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Not available
S-EPMC10418577 | biostudies-literature
UnknownCritical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Not available
S-EPMC11057178 | biostudies-literature
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