Palmer Megan M - OmicsDI

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A 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

A 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

Blood-based Diagnostics of Pediatric Tuberculosis: A Prospective Case-controlled Study

Background Pediatric tuberculosis (TB) diagnosis is often challenging due to difficultly obtaining diagnostic respiratory specimens, which may contain low concentrations of Mycobacterium tuberculosis (Mtb) bacilli. However, we have reported that an immuno-affinity liquid chromatography-tandem mass s...

ORGANISM(S): Homo Sapiens

PXD053274 | panorama

MEDULLOBLASTOMA

Not available

S-EPMC4046290 | biostudies-literature

Azithromycin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.

Not available

S-EPMC7884931 | biostudies-literature

Empagliflozin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.

Not available

S-EPMC10957483 | biostudies-literature

Higher dose corticosteroids in hospitalised COVID-19 patients requiring ventilatory support (RECOVERY): a randomised, controlled, open-label, platform trial.