Update in primary pulmonary lymphomas.
Hempstead, United States. In Curr Opin Pulm Med, Jul 2015
PURPOSE OF REVIEW: Despite the fact that primary pulmonary lymphoma (PPL) is a rare lung tumour, significant advances addressing clinical features, histological diagnosis, prognostic criteria and therapeutic management of this disease have been made within the past decade.
Anchored multiplex PCR for targeted next-generation sequencing.
Boston, United States. In Nat Med, 2014
On the basis of our experience with performing AMP on 986 clinical FFPE samples, we show its potential as both a robust clinical assay and a powerful discovery tool, which we used to identify new therapeutically important gene fusions: ARHGEF2-NTRK1 and CHTOP-NTRK1 in glioblastoma, MSN-ROS1, TRIM4-BRAF, VAMP2-NRG1, TPM3-NTRK1 and RUFY2-RET in lung cancer, FGFR2-CREB5 in cholangiocarcinoma and PPL-NTRK1 in thyroid carcinoma.
A diagnostic algorithm for metabolic myopathies.
New York City, United States. In Curr Neurol Neurosci Rep, 2010
CK-creatine kinase; COX-cytochrome c oxidase; CPT-carnitine palmitoyl transferase; cyt b-cytochrome b; mtDNA-mitochondrial DNA; nDNA-nuclear DNA; PFK-phosphofructokinase; PGAM-phosphoglycerate mutase; PGK-phosphoglycerate kinase; PPL-myophosphorylase; RRF-ragged red fibers; TFP-trifunctional protein deficiency; VLCAD-very long-chain acyl-coenzyme A dehydrogenase.