Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-020-00798-3
Abstract: Purpose Owing to recent technological advancements, using next-generation sequencing (NGS) and the accumulation of clinical experiences worldwide, more than 420 genes associated with inborn errors of immunity (IEI) have been identified, which exhibit large genotypic… read more here.
Keywords: exome sequencing; errors immunity; whole exome; mutations patients ... See more keywords
HIV Drug Resistance Mutations in Patients with HIV and HIV-TB Coinfection After Failure of First-Line Therapy: A Prevalence Study in a Resource-Limited Setting
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the International Association of Providers of AIDS Care"
DOI: 10.1177/2325958219849061
Abstract: Introduction: The present study aimed to report the prevalent HIV-1 drug-resistant mutations in patients with HIV-1 alone and tuberculosis (TB) coinfection alone to improve our understanding of the mutation patterns and aid treatment decisions. Methods:… read more here.
Keywords: patients hiv; hiv hiv; study; drug ... See more keywords
Analysis of KIT gene mutations in patients with melanoma of the head and neck mucosa: a retrospective clinical report
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DOI: 10.18632/oncotarget.25094
Abstract: Unlike their cutaneous counterparts, head and neck mucosal malignant melanomas (HNMM) are more aggressive, and their prognostic markers have not been fully elucidated. This study, comprising 28 patients with HNMM, aimed to establish the relationship… read more here.
Keywords: analysis kit; gene mutations; kit gene; mutations patients ... See more keywords
Spectrum of Causative Mutations in Patients with Hemophilia A in Russia
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DOI: 10.3390/genes14020260
Abstract: Hemophilia A (HA) is one of the most widespread, X-linked, inherited bleeding disorders, which results from defects in the F8 gene. Nowadays, more than 3500 different pathogenic variants leading to HA have been described. Mutation… read more here.
Keywords: causative mutations; spectrum causative; analysis; mutations patients ... See more keywords
Prognostic value of ASXL1 mutations in patients with myelodysplastic syndromes and acute myeloid leukemia: A meta-analysis.
Sign Up to like & getrecommendations! Published in 2022 at "Asia-Pacific journal of clinical oncology"
DOI: 10.37766/inplasy2022.4.0013
Abstract: Additional sex combs-like 1 (ASXL1) mutations, a hotspot in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), have been frequently reported for their potential prognostic value, but the results are controversial. Therefore, a meta-analysis was… read more here.
Keywords: myeloid leukemia; meta analysis; asxl1 mutations; acute myeloid ... See more keywords
Mitochondrial G8292A and C8794T mutations in patients with Niemann-Pick disease type C
Sign Up to like & getrecommendations! Published in 2018 at "Biomedical Reports"
DOI: 10.3892/br.2018.1156
Abstract: [This corrects the article DOI: 10.3892/br.2018.1095.]. read more here.
Keywords: patients niemann; g8292a c8794t; mitochondrial g8292a; niemann pick ... See more keywords