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Now showing items 11-20 of 28
Evolutionary dynamics of residual disease in human glioblastoma.
(OXFORD UNIV PRESS, 2019-03-01)
BACKGROUND: Glioblastoma is the most common and aggressive adult brain malignancy against which conventional surgery and chemoradiation provide limited benefit. Even when a good treatment response is obtained, recurrence ...
Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours.
(SPRINGER, 2018-01-01)
Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic ...
Three-dimensional cardiovascular imaging-genetics: a mass univariate framework.
(OXFORD UNIV PRESS, 2018-01-01)
MOTIVATION: Left ventricular (LV) hypertrophy is a strong predictor of cardiovascular outcomes, but its genetic regulation remains largely unexplained. Conventional phenotyping relies on manual calculation of LV mass and ...
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
(NATURE PUBLISHING GROUP, 2018-03-01)
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical ...
Phenotypic diversity of circulating tumour cells in patients with metastatic castration-resistant prostate cancer.
(WILEY, 2017-11-01)
OBJECTIVES: To use a non-biased assay for circulating tumour cells (CTCs) in patients with prostate cancer (PCa) in order to identify non-traditional CTC phenotypes potentially excluded by conventional detection methods ...
Childhood body size and pubertal timing in relation to adult mammographic density phenotype.
(BMC, 2017-02-07)
BACKGROUND: An earlier age at onset of breast development and longer time between pubertal stages has been implicated in breast cancer risk. It is not clear whether associations of breast cancer risk with puberty or ...
Development Refractoriness of MLL-Rearranged Human B Cell Acute Leukemias to Reprogramming into Pluripotency.
(CELL PRESS, 2016-10-11)
Induced pluripotent stem cells (iPSCs) are a powerful tool for disease modeling. They are routinely generated from healthy donors and patients from multiple cell types at different developmental stages. However, reprogramming ...
MicroRNA and gene co-expression networks characterize biological and clinical behavior of rhabdomyosarcomas.
(ELSEVIER IRELAND LTD, 2017-01-28)
Rhabdomyosarcomas (RMS) in children and adolescents are heterogeneous sarcomas broadly defined by skeletal muscle features and the presence/absence of PAX3/7-FOXO1 fusion genes. MicroRNAs are small non-coding RNAs that ...
SF3B1 mutations constitute a novel therapeutic target in breast cancer.
(WILEY, 2015-03-01)
Mutations in genes encoding proteins involved in RNA splicing have been found to occur at relatively high frequencies in several tumour types including myelodysplastic syndromes, chronic lymphocytic leukaemia, uveal melanoma, ...
Molecular or Metabolic Reprograming: What Triggers Tumor Subtypes?
(AMER ASSOC CANCER RESEARCH, 2016-09-15)
Tumor heterogeneity is reflected and influenced by genetic, epigenetic, and metabolic differences in cancer cells and their interactions with a complex microenvironment. This heterogeneity has resulted in the stratification ...