Categoría: The Journal of Molecular Diagnostics
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Molecular basis of sarcomeric variants and the modifying role of non-sarcomeric genes in Sudden unexplained nocturnal death syndrome (SUNDS)
Sudden unexplained nocturnal death syndrome (SUNDS), a subtype of sudden unexplained death, predominantly affects young, otherwise healthy individuals, with a higher prevalence in males and a geographic concentration in Southeast Asia, particularly Tha…
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Non-Invasive Detection of Bladder Cancer via Urinary DNA Mutation and Methylation Profiling Using Modified qPCR
Cystoscopy is the gold standard for bladder cancer diagnosis and surveillance but suffers from invasiveness and patient discomfort. Existing urine-based assays with single gene mutation or methylation biomarkers exhibit insufficient diagnostic efficacy…
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Molecular Basis of Sarcomeric Variants and the Modifying Role of Non-sarcomeric Genes in Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
Sudden unexplained nocturnal death syndrome (SUNDS), a subtype of sudden unexplained death, predominantly affects young, otherwise healthy individuals, with a higher prevalence in male subjects and a geographic concentration in Southeast Asia, particul…
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Simultaneous Detection of SMN1, SMN2, NAIP, H4F5, and GTF2H2 Copy Numbers and SMN1 Loss-of-Function Variants for SMA by MALDI-TOF Mass Spectrometry
Spinal muscular atrophy (SMA) is a common fatal genetic disorder with a high carrier rate. For the prevention program and treatment plan of this disease, a comprehensive assay is practically needed to gain multigenetic information, enabling effective m…
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Noninvasive Detection of Bladder Cancer via Urinary DNA Mutation and Methylation Profiling Using Modified Real-Time Quantitative PCR
Cystoscopy is the gold standard for bladder cancer (BC) diagnosis and surveillance but experiences invasiveness and patient discomfort. Existing urine-based assays with single-gene mutation or methylation biomarkers exhibit insufficient diagnostic effi…
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The Critical Role of Preanalytical Factors in Validating Cytology Specimens for Hybrid-Capture Next-Generation Sequencing
Cytologic specimens, often the only available sample, are increasingly relied upon for comprehensive genomic profiling in patients with advanced malignancies, necessitating detailed characterization of next-generation sequencing (NGS) assay performance…