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Mostrando ítems 31-40 de 97
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions
(2022)
Understanding the exact molecular mechanisms involved in the etiology of epileptogenic pathologies with or without tumor activity is essential for improving treatment of drug-resistant focal epilepsy. Here, we characterize ...
Caracterización clínica y genética de grupos familiares con enfermedad de Alzheimer y trastornos de movimiento con patrones de herencia mendelianos
(Genética Molecular (GENMOL)Medellín - Colombia, 2022)
Secondary Analysis of the NCI-60 Whole Exome Sequencing Data Indicates Significant Presence of Propionibacterium acnes Genomic Material in Leukemia (RPMI-8226) and Central Nervous System (SF-295, SF-539, and SNB-19) Cell Lines.
(2015)
The NCI-60 human tumor cell line panel has been used in a broad range of cancer research over the last two decades. A landmark 2013 whole exome sequencing study of this panel added an exceptional new resource for cancer ...
Secondary Analysis of the NCI-60 Whole Exome Sequencing Data Indicates Significant Presence of Propionibacterium acnes Genomic Material in Leukemia (RPMI-8226) and Central Nervous System (SF-295, SF-539, and SNB-19) Cell Lines.
(2015)
The NCI-60 human tumor cell line panel has been used in a broad range of cancer research over the last two decades. A landmark 2013 whole exome sequencing study of this panel added an exceptional new resource for cancer ...
A pharmacogenomic dissection of a Rosuvastatin-induced rhabdomyolysis case evokes the polygenic nature of adverse drug reactions
Rosuvastatin, is a widely-used statin for the treatment of hypercholesterolemia and the prevention of cardiovascular diseases. Although rosuvastatin is well tolerated, about 3/10.000 patients can suffer severe myopathy. ...
Holmes Tremor‐Like Phenotype in DYT1 Dystonia
(Wiley, 2018-02)
Holmes tremor is characterized by a combination of a flexion‐extension resting postural and action tremor, most often due to mesencephalic lesions affecting the nigrostriatal and cerebello‐thalamo‐cortical pathways. On the ...
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis
(2018)
The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH),
yet concern exists for their misapplication, resulting in suboptimal treatment of some patients. We sought to define the genomic spectrum ...
An exploration tool for quality analysis in targeted sequencing experiments
(Springer, 2015-01)
Amplicon Exome Sequencing allows focusing on exonic regions of a small group of genes. The overall aim is to inquire sequenced regions about the occurrence of mutations, single nucleotide polymorphisms, insertions and ...