Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of human genetics"
DOI: 10.1038/s10038-021-00912-2
Abstract: Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. FSGS is considered as a podocyte disease due to the… read more here.
Keywords: patients familial; sequencing patients; gene; next generation ... See more keywords
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy
Sign Up to like & getrecommendations! Published in 2020 at "Human Genomics"
DOI: 10.1186/s40246-020-00294-0
Abstract: Background Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20–30% of cases are caused by acquired conditions, but in the remaining cases, genetic factors… read more here.
Keywords: exome sequencing; pathogenic variants; identified whole; variants identified ... See more keywords
Analysis of real-world data (RWD) on treatment (tx) sequencing in patients with advanced non-small cell lung cancer (aNSCLC).
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2019.37.15_suppl.e20642
Abstract: e20642 Background: While optimal sequencing of systemic therapy in aNSCLC is critical to achieve maximal clinical benefit, it is practically challenging to study tx sequencing through clinical trials. RWD allow retrospective, observational studies to examine… read more here.
Keywords: therapy; sequencing patients; lot; line ... See more keywords
The Application of Whole−Exome Sequencing in Patients With FUO
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cellular and Infection Microbiology"
DOI: 10.3389/fcimb.2021.783568
Abstract: Background Fever of unknown origin (FUO) is still a challenge for clinicians. Next-generation sequencing technologies, such as whole exome sequencing (WES), can be used to identify genetic defects in patients and assist in diagnosis. In… read more here.
Keywords: application whole; patients fuo; whole exome; sequencing patients ... See more keywords