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UnknownScanning the aged to minimize missed injury: An Eastern Association for the Surgery of Trauma multicenter study.
Not available
S-EPMC11599468 | biostudies-literature
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
GenomicsWTCCC2 Visceral Leishmaniasis (VL) samples
A WTCCC2 project genome-wide association study for visceral leishmaniasis (VL) in individuals from India, Brazil and Sudan, genotyped on the custom Illumina 670k array. The WTCCC2 analysis of the Brazilian and Indian samples is described in Fakiola et al. [Nat Genet. 2013 Feb;45(2):208-13]. It shoul...
EGAS00001000773 | EGA
GenomicsWellcome Trust Case Control Consortium Data Access Committee
Access to summary data and individual-level genotype data is available by application to the Wellcome Trust Case Control Consortium Data Access Committee (CDAC). Access to data will be granted to qualified investigators for appropriate use. The CDAC also controls the individual level genotype data f...
EGAC00000000001 | EGA
UnknownCohort Profile: The Ovarian Cancer Cohort Consortium (OC3).
Not available
S-EPMC9425513 | biostudies-literature
GenomicsWTCCC2 VL Brazil - samples
WTCCC2 Visceral Leishmaniasis samples from Brazil using Illumina 670k
EGAD00010000636 | EGA
GenomicsWTCCC2 VL Sduan - samples
WTCCC2 Visceral Leishmaniasis samples from Sudanl using Illumina 670k
EGAD00010000640 | EGA
GenomicsWTCCC2 VL India - samples
WTCCC2 Visceral Leishmaniasis samples from Indial using Illumina 670k
EGAD00010000638 | 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
UnknownPosttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.
Not available
S-EPMC11294800 | biostudies-literature
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