Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients
Sign Up to like & getrecommendations! Published in 2019 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-019-04348-5
Abstract: PurposeTo evaluate ophthalmological and molecular findings in eight patients with a clinical diagnosis of neurofibromatosis type 2 (NF2). New pathological mutations are described and variability in the ophthalmic phenotype and NF2 allelic heterogeneity are discussed.MethodsEye… read more here.
Keywords: pathological mutations; ocular alterations; alterations molecular; three novel ... See more keywords
The alterations in molecular markers and signaling pathways in chronic thromboembolic pulmonary hypertension, a study with transcriptome sequencing and bioinformatic analysis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2022.961305
Abstract: Background At present, the alterations in molecular markers and signaling pathways in chronic thromboembolic pulmonary hypertension (CTEPH) remain unclear. We aimed to compare the difference of molecular markers and signaling pathways in patients with CTEPH… read more here.
Keywords: markers signaling; molecular markers; alterations molecular; analysis ... See more keywords