Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy-number variations in 9,708 pregnancies. [PDF]
Suo F +14 more
europepmc +1 more source
Modern Management of Asymptomatic Carotid Stenosis: A Meta‐Analysis of CREST‐2, SPACE‐2, and ECST‐2
ABSTRACT Background Recent randomized trials (CREST‐2, SPACE‐2, and ECST‐2) have compared carotid revascularization (carotid endarterectomy [CEA] or carotid artery stenting [CAS]) plus contemporary medical therapy (CMT) versus CMT alone in asymptomatic carotid stenosis.
Aasim Ali +14 more
wiley +1 more source
Comprehensive analysis of copy number variations in congenital heart defects Tunisian patients: chromosomal microarray analysis insights. [PDF]
Khelifi R +37 more
europepmc +1 more source
Global Rather Than Vertical‐Selective Saccadic Abnormalities in Progressive Supranuclear Palsy
ABSTRACT Objective To test whether vertical saccades are preferentially affected in Progressive Supranuclear Palsy (PSP). Methods PSP patients (n = 24) were compared to age‐matched controls (n = 94) and two degenerative groups (Alzheimer's disease, n = 20; Lewy body disease, n = 50).
Duy Duan Nguyen +6 more
wiley +1 more source
<i>RNU2-1</i> gene copy number variations do not affect serum levels of miR-1246 as a biomarker for lung adenocarcinoma. [PDF]
Ueda M, Sato S, Miyagi Y, Aiso T.
europepmc +1 more source
ABSTRACT Objective The prognosis of glioblastoma (GBM) remains highly unfavorable, largely due to high tumor heterogeneity and an immunosuppressive microenvironment. However, the functional role of PANoptosis in this context is poorly understood. Methods Patients were stratified via K‐means clustering. A risk score model was constructed using prognosis‐
Langfei Tian +6 more
wiley +1 more source
Decoding clone evolution in HER2 amplified breast cancer through single-cell and spatial transcriptomics analysis of copy number variations. [PDF]
Yang J, Li Y, Luo S, Wang J, Duan Y.
europepmc +1 more source
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini +12 more
wiley +1 more source
Correction to: Enhancing interpretation of clinical disease-associated copy number variations from multiple sequencing strategies with CNVSeeker. [PDF]
europepmc +1 more source
Clinical Implications and Limitations of Noninvasive Prenatal Testing for Detecting Fetal Copy Number Variations: A Multicenter Study in Shaanxi Province, China. [PDF]
Wang H +7 more
europepmc +1 more source

