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Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis.
J Clin Endocrinol Metab
January 2025
Marmara University School of Medicine, Department of Pediatric Endocrinology, 34854, Istanbul, Turkey.
Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.
Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9.
Clinical Characteristics of and Treatment Pattern for EGFR-Amplified Colorectal Cancer.
Cancer Res Treat
January 2025
Department of Oncology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Purpose: To compare clinicopathologic features and clinical outcomes of metastatic colorectal cancer (mCRC) based on EGFR amplification status.
Materials And Methods: Patients with mCRC who underwent next-generation sequencing using a targeted 244-gene panel from 2016 to 2021 were identified and screened for EGFR copy numbers. Cases with at least 5 copies were reviewed for tumor purity adjustment, and those with an adjusted copy number of ≥6 were defined as EGFR-amplified (EGFR amp+).
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
Presence of the Anopheles culicifacies complex species A in southeast Iran.
Trop Med Health
January 2025
Department of Vector Biology and Control of Diseases, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
Background: The Anopheles culicifacies complex is one of the most important malaria vectors in Southeast Asia and Southeastern Iran. Although the sibling species within this complex are morphologically indistinguishable, they differ significantly in their disease transmission potential, blood-feeding behaviour, and other biological traits. Cytogenetic and chromosomal studies have identified five sibling species within this complex: A, B, C, D, and E.
View Article and Find Full Text PDFPlasmon-Driven Gold Nanopillar Multiarrayed Gene Amplification Methodology for the High-Throughput Discrimination of Pathogens.
Adv Sci (Weinh)
January 2025
SKKU Advanced Institute of Nanotechnology (SAINT), Sungkyunkwan University, Suwon, 16419, South Korea.
Molecular diagnosis limitations, including complex treatment processes, low cost-effectiveness, and operator-dependent low reproducibility, interrupt the timely prevention of disease spread and the development of medical devices for home and outdoor uses. A newly fabricated gold nanopillar array-based film is presented for superior photothermal energy conversion. Magnifying the metal film surface-to-volume ratio increases the photothermal energy conversion efficiency, resulting in a swift reduction in the gene amplification reaction time.
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