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UnknownCombined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.
Not available
S-EPMC4678181 | biostudies-literature
UnknownFirst implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.
Not available
S-EPMC3918001 | biostudies-literature
TranscriptomicsChanges in global gene expression in SIN1 knock-out murine epithelial fibroblasts
RNA from wt and SIN1 knock-out MEF cell lines were compared Using affymetrix murine gene chip, the effects of SIN1 ablation on global gene transcription were assessed RNA from wild type and SIN1 knock out cells was purified and differences in gene expression between the two sets. MEFs were derived f...
ORGANISM(S): Mus musculus 
2016-08-25 | E-GEOD-65464 | biostudies-arrayexpress
TranscriptomicsC9ORF72 GGGGCC expanded repeats produce splicing dysregulation which correlates with disease severity in amyotrophic lateral sclerosis [HG-U133_Plus_2]
Objective: An intronic GGGGCC-repeat expansion of C9ORF72 is the most common genetic variant of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. The mechanism of neurodegeneration is unknown, but a direct effect on RNA processing mediated by RNA foci transcribed from the repeat seque...
ORGANISM(S): Homo sapiens 
2015-05-08 | E-GEOD-68605 | biostudies-arrayexpress
TranscriptomicsMultiscale spatial mapping of cell populations across anatomical sites in healthy human skin and basal cell carcinoma - Spatial Transcriptomics - 10X Visium
Our understanding of how human skin cells differ according to anatomical site and tumour formation is limited. To address this we have created a multi-scale spatial atlas of healthy skin and basal cell carcinoma (BCC), incorporating in vivo optical coherence tomography, single cell RNA sequencing, s...
ORGANISM(S): Homo sapiens 
2023-12-22 | E-MTAB-13085 | biostudies-arrayexpress
GenomicsICGC Oesophageal Adenocarcinoma sequence data - fc_paper_dna_release - samples
Data supporting: "Patient-specific detection of cancer genes reveals recurrently perturbed processes in esophageal adenocarcinoma." Mourikis et al. WGS (BAM files) 521 samples
EGAD00001004775 | EGA
TranscriptomicsC9ORF72 GGGGCC expanded repeats produce splicing dysregulation which correlates with disease severity in amyotrophic lateral sclerosis [HuEx-1_0-st]
Objective: An intronic GGGGCC-repeat expansion of C9ORF72 is the most common genetic variant of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. The mechanism of neurodegeneration is unknown, but a direct effect on RNA processing mediated by RNA foci transcribed from the repeat seque...
ORGANISM(S): Homo sapiens 
2015-05-08 | E-GEOD-68607 | biostudies-arrayexpress
GenomicsICGC Oesophageal Adenocarcinoma sequence data - TLR_pathway_study - samples
upcoming publication
EGAD00001001960 | EGA
GenomicsICGC Oesophageal Adenocarcinoma sequence data - dcc_release_28 - samples
WGS sequencing for 409 cases (832 samples) from the ICGC ESAD-UK project Tumours 50x Normals 30x HiSeq X BAM files These samples are all available in ICGC release 28
EGAD00001004137 | EGA
GenomicsICGC Oesophageal Adenocarcinoma sequence data - 100_all_samples - samples
All samples from the "100" project
EGAD00001001457 | EGA
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