Sort   by:  
 Page size 
GenomicsEGAD00000000058
Aggregate results from 22 Carbamazepine-induced hypersensitivity syndrome patients and 2691 UK National Blood Service (NBS) control samples
EGAD00000000058 | EGA
GenomicsEGAD00000000059
Aggregate results from 43 Carbamazepine-induced hypersensitivity syndrome patients and 1296 1958 British Birth Cohort control samples
EGAD00000000059 | EGA
GenomicsHLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans
Based on the prior knowledge of involvement of the human leukocyte antigen locus in Han Chinese patients with carbamazepine-induced Stevens-Johnson syndrome, we imputed the HLA types for each case and control subject from the array of SNPs in the Human610-Quad GWAS platform (NCBI Build 36.1). We the...
EGAS00000000036 | EGA
GenomicsCarbamazepine-induced hypersensitivity reactions in Europeans
An antiepileptic drug carbamazepine is well tolerated by the majority of patients, but can cause severe and potentialy fatal hypersensitivity reactions in a small number of individuals. The aim of this study was to identify genetic predictors of hypersensitivity reactions to carbamazepine. We undert...
EGAS00000000037 | EGA
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
UnknownFc Effector Function Contributes to the Activity of Human Anti-CTLA-4 Antibodies.
Not available
S-EPMC5904288 | biostudies-literature
UnknownMeasurement of circulating viral antigens post-SARS-CoV-2 infection in a multicohort study.
Not available
S-EPMC11578795 | biostudies-literature
UnknownElective surgery cancellations due to the COVID-19 pandemic: global predictive modelling to inform surgical recovery plans.
Not available
S-EPMC7272903 | biostudies-literature
UnknownSurgical management of acute appendicitis during the European COVID-19 second wave: safe and effective.
Not available
S-EPMC9851576 | biostudies-literature
Sort   by:  
 Page size