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TranscriptomicsGenotype profiling of primitive neuroectodermal tumours (250K_Nsp_SNP and 250K_Sty_SNP)
Primitive neuro-ectodermal tumours (PNET) of the supratentorial region are rare, highly malignant embryonal brain tumours affecting young children. Although supratentorial PNET (sPNET) are histologically similar to infratentorial PNET/medulloblastoma, sPNET have more aggressive clinical phenotypes, ...
ORGANISM(S): Homo sapiens 
2009-12-21 | E-GEOD-14087 | biostudies-arrayexpress
TranscriptomicsGenotype profiling of a primitive neuroectodermal tumour identifies a non-constitutive chr19q13.41 amplicon
Primitive neuro-ectodermal tumours (PNET) of the supratentorial region are rare, highly malignant embryonal brain tumours affecting young children. Although supratentorial PNET (sPNET) are histologically similar to infratentorial PNET/medulloblastoma, sPNET have more aggressive clinical phenotypes, ...
ORGANISM(S): Homo sapiens 
2010-04-03 | E-GEOD-14248 | biostudies-arrayexpress
GenomicsLBC_Methylation - samples
DNA methylation data using Illumina 450K
EGAD00010000604 | EGA
GenomicsDNA methylation repeatability in the Lothian Birth Cohorts of 1921 and 1936.
The repeatability of longitudinal measures of whole blood DNA methylation (obtained using the Illumina 450k chip) was assessed in two cohorts of ageing. The Lothian Birth Cohort of 1921 and the Lothian Birth Cohort of 1936. Data were collected at ages 70, 73, and 76 (LBC1936) and 79, 87, 90 (LBC1921...
EGAS00001000910 | EGA
GenomicsLongitudinal DNA methylation in the Lothian Birth Cohorts of 1921 and 1936
Data Access Committee EGAC00001000218
EGAC00001000218 | EGA
GenomicsInternational Consortium on the Genetics of Systemic Lupus Erythematosus (SLEGEN)

The genetic makeup of an individual strongly influences the risk of developing systemic lupus erythematosus (SLE). The identification of genes that predispose an individual to SLE will lead to earlier and better diagnosis, better treatments, and possibly prevention.

To this end, t...

phs000216.v1.p1 | EGA
UnknownAnkyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.
Not available
S-EPMC6668697 | biostudies-literature
UnknownA Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Not available
S-EPMC10721666 | biostudies-literature
GenomicsOMRF SLEGEN GWAS Data from European-American Women with Lupus

"Systemic lupus erythematosus (SLE) is a common systemic autoimmune disease with complex etiology but strong clustering in families (lambda(S) = approximately 30). We performed a genome-wide association scan using 317,501 SNPs in 720 women of European ancestry with SLE and in 2,337 controls,...

phs000202.v1.p1 | EGA
UnknownClinical features and outcomes in carriers of pathogenic desmoplakin variants.
Not available
S-EPMC11745529 | biostudies-literature
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