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http://dx.doi.org/10.1016/j.braindev.2013.11.005 | DOI Listing |
Ophthalmic Genet
January 2025
Departments of Medical Genetics and Ophthalmology & Visual Sciences, University of Alberta, Edmonton, Alberta, Canada.
Background: Pathogenic variants in , a kinesin family gene, cause MCLMR and FEVR. In MCLMR, chorioretinal atrophy is present in the majority of cases and can be a helpful diagnostic sign.
Cases: We present the cases of two patients with chorioretinal atrophy and microcephaly who carry novel mutations.
Taiwan J Ophthalmol
January 2024
Asociados de Macula, Vitreo y Retina de Costa Rica, Primer Piso Torre Mercedes Paseo Colon, San Jose, Costa Rica.
Dengue is the most common arboviral disease. It is typically spread by the bite of an infected female or mosquitoes. Dengue is endemic in subtropical and tropical regions, but its geographic reach keeps expanding.
View Article and Find Full Text PDFRNA Biol
December 2025
Institute for Molecular Biosciences and Biomolecular Resonance Center (BMRZ), Goethe University Frankfurt, Frankfurt, Germany.
RNA elements play pivotal roles in regulatory processes, e.g. in transcriptional and translational regulation.
View Article and Find Full Text PDFTrop Doct
January 2025
Consultant Intensivist, Department of Intensive Care, Yashoda Hospitals, Somajiguda, Hyderabad, Telangana, India.
Dengue infection is emerging as one of the most common tropical diseases globally. It manifests in varying severity from asymptomatic to the most severe forms of the disease, characterized by coagulopathy, increased vascular fragility, and permeability (dengue haemorrhagic fever) that may progress to hypovolaemic shock (dengue shock syndrome). For atypical manifestations, a new terminology known as expanded dengue syndrome (EDS) was introduced.
View Article and Find Full Text PDFClin Genet
January 2025
Laboratorio de Citometría y Biología Molecular, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.
Timeline and genetic analysis of a 55-year-old female with a family history of gastric cancer and multiple myeloma, who was diagnosed with AML and a germline CEBPA variant.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!