Results 41 to 50 of about 55,479 (231)
Molecular Oncology, EarlyView.To integrate multiple transcriptomics data with severe batch effects for identifying MB subtypes, we developed a novel and accurate computational method named RaMBat, which leveraged subtype‐specific gene expression ranking information instead of absolute gene expression levels to address batch effects of diverse data sources.
Mengtao Sun, Jieqiong Wang, Shibiao Wan
wiley +1 more source
BMC Pediatrics, 2018 Background Supernumerary Marker Chromosomes consist in structurally abnormal chromosomes, considered as an extra chromosome in which around 70% occur as a de novo event and about 30% of the cases are mosaic. Tetrasomy 9p is a rare chromosomal abnormality
Irene Plaza Pinto +4 more
doaj +1 more source
FEBS Open Bio, EarlyView.Clinical analysis reveals significant dysregulation of FGFRL1 in esophageal cancer (EC) patients. RNAi‐coupled next‐generation sequencing (NGS) and in vitro study reveal FGFRL1‐mediated EC progression via EMT, PI3K/Akt, and Notch pathways. Functional assays confirm its role in tumor growth, migration, and invasion.
Aprajita Srivastava +3 more
wiley +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: To investigate the clinical value of chromosomal microarray analysis (CMA) in the prenatal diagnosis of genetic abnormalities in fetal isolated mild ventriculomegaly.
Hong-Lei Duan +6 more
doaj +1 more source
Variants of unknown significance on chromosomal microarray analysis: parental perspectives [PDF]
Journal of Community Genetics, 2015 Chromosomal microarray is the recommended first-tier genetic test when a child presents with idiopathic developmental delay (DD), intellectual disability (ID), and/or autism spectrum disorder (ASD). Microarray may discover variants of unknown clinical significance (VUS) and been suggested to cause parental stress and anxiety.
Stephanie, Jez +4 more
openaire +2 more sources
Arthritis Care &Research, EarlyView.Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla +13 more
wiley +1 more source
Methylmalonic acidemia in prenatal diagnosis
Clinical and Experimental Obstetrics & Gynecology, 2020 Objective: The objective of this study was to report the prenatal diagnosis for methylmalonic acidemia. Materials and Methods: Isolated methylmalonic acidemia was diagnosed by analyzing organic acids in the blood and urine.
B.F. Zhou, C.X. Duan, D.L. Tang
doaj +1 more source
Advanced Science, EarlyView.This study reports that SBNO1 protein is upregulated in several cancer entities. SBNO1 protein interacts with the basal transcription factor TFIID via TAF4, enabling its recruitment to transcription start sites and the modulation of target gene expression.
Sarah Fritzsche +21 more
wiley +1 more source
Advanced Science, EarlyView.Tumor evolution in lung adenocarcinoma is shaped by genetic alterations and spatial immune dynamics. By integrating whole‐exome sequencing, imaging mass cytometry, and spatial transcriptomics across two mouse models, this study reveals how mutational burden, immune infiltration, and cell–state interactions evolve during early and late carcinogenesis ...
Bo Zhu +34 more
wiley +1 more source
Journal of International Medical Research, 2019 Objective To evaluate the efficiency and incremental value of chromosomal microarray analysis as compared with standard karyotyping for the identification of genomic abnormalities in fetal DNA.
Jun-Ling Yi +5 more
doaj +1 more source