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Polymorphic Single-Nucleotide Variants in miRNA Genes and the Susceptibility to Colorectal Cancer: Combined Evaluation by Pairwise and Network Meta-Analysis, Thakkinstian's Algorithm and FPRP Criterium.
Cancer Med
January 2025
August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain.
Background: Considerable epidemiological studies have examined the correlation between polymorphic single-nucleotide variants (SNPs) in miRNA genes and colorectal carcinoma (CRC) risk, yielding inconsistent results. Herein, we sought to systematically investigate the association between miRNA-SNPs and CRC susceptibility by combined evaluation using pairwise and network meta-analysis, the FPRP analysis (false positive report probability), and the Thakkinstian's algorithm.
Methods: The MEDLINE, EMBASE, WOS, and Cochrane Library databases were searched through May 2024 to find relevant association literatures.
Evolution of ceftazidime/avibactam resistance and plasmid dynamics in OXA-48-producing Klebsiella spp. during long-term patient colonization.
Eur J Clin Microbiol Infect Dis
January 2025
UGC Microbiología and Instituto de Investigación E Innovación Biomédica de Cádiz (INIBICA), Hospital Universitario Puerta del Mar, Cádiz, Spain.
Purpose: To prospectively monitor the evolution of the resistome of OXA-48-producing Klebsiella species in a patient with long-term colonization, with a particular focus into the plasmid dynamics and the evolution of ceftazidime/avibactam resistance.
Methods: All OXA-48-producing Klebsiella spp. isolates from a single patient admitted to a hospital during seven months were prospectively collected.
Nanoparticle-based colorimetric assays for early and rapid screening of the oncogenic HPV variants 16 and 18.
Clin Chim Acta
January 2025
iÓMICAS Research Institute, Pontificia Universidad Javeriana, Calle 17 # 121B - 155, Cali, Valle del Cauca 760031, Colombia; Chemistry and Chemical Engineering Division, California Institute of Technology, Pasadena, CA 91125, United States. Electronic address:
Cervical cancer is predominantly caused by human papillomavirus (HPV), with oncogenic strains HPV 16 and 18 accounting for most cases worldwide. Prompt and precise identification of these high-risk HPV types is essential for enhancing patient outcomes as it enables timely intervention and management. However, the existing HPV detection techniques are time-consuming, expensive, and require highly skilled personnel.
View Article and Find Full Text PDFDias-Logan syndrome with a p.Leu360Profs*212 heterozygous pathogenic variant of in a Chinese patient: A case report.
SAGE Open Med Case Rep
January 2025
Department of Reproductive Medicine, Zhejiang Provincial Hospital of Integrated Traditional Chinese and Western Medicine & Hangzhou Red Cross Hospital, Zhejiang Chinese Medical University, Hangzhou, Zhejiang Province, China.
Dias-Logan syndrome, also known as intellectual developmental disorder with persistence of fetal hemoglobin (HbF), or -related intellectual developmental disorder, is an extremely rare neurogenetic disorder characterized by intellectual disability (ID), delayed psychomotor development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin. The prevalence and incidence of this condition are currently unknown. We report an 8-year-old Han Chinese male patient with Dias-Logan syndrome who carries a heterozygous pathogenic variant, c.
View Article and Find Full Text PDFComprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.
Clin Genet
January 2025
Clinical and Molecular Genetics Area, Vall d'Hebron Hospital, Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.
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