High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Human Genetics"
DOI: 10.1038/s10038-021-00925-x
Abstract: Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins,… read more here.
Keywords: massively parallel; variant; using massively; yield ... See more keywords
The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Neurogenetics"
DOI: 10.1080/01677063.2018.1555249
Abstract: Abstract There is increasing evidence that whole exome sequencing (WES) has a high diagnostic yield and is cost-efficient for individuals with neurological phenotypes. However, there is limited data on the use of WES in non-Western… read more here.
Keywords: exome sequencing; pathogenic variants; rate; whole exome ... See more keywords
Serum microRNA signatures and metabolomics have high diagnostic value in colorectal cancer using two novel methods
Sign Up to like & getrecommendations! Published in 2018 at "Cancer Science"
DOI: 10.1111/cas.13514
Abstract: Recently, many new diagnostic biomarkers have been developed for colorectal cancer. We chose 2 methods with high diagnostic efficiency, the detection of serum microRNA and metabolomics based on gas chromatography/mass spectrometry (GC/MS), and aimed to… read more here.
Keywords: mir; colorectal cancer; value; diagnostic value ... See more keywords
The high‐diagnostic characteristics of HBsAg level in differentiation of hepatitis B clinical presentations: Myth or truth?
Sign Up to like & getrecommendations! Published in 2017 at "Liver International"
DOI: 10.1111/liv.13259
Abstract: We read with great interest the article by Maimone et al. (1) recently published in your prestigious journal. In this study, the diagnostic characteristics of hepatitis B virus (HBV) DNA level, hepatitis B surface antigen (HBsAg)… read more here.
Keywords: hbsag level; hepatitis; high diagnostic; differentiation ... See more keywords
Response to the high diagnostic characteristics of HBsAg level in differentiation of Hepatitis B clinical presentations: myth or truth?
Sign Up to like & getrecommendations! Published in 2017 at "Liver International"
DOI: 10.1111/liv.13274
Abstract: Response to the high diagnostic characteristics of HBsAg level in differentiation of Hepatitis B clinical presentations: myth or truth? 4. Keshvari M, Alavian SM, Sharafi H. How can we make decision for patients with chronic… read more here.
Keywords: hbsag level; hepatitis; response high; high diagnostic ... See more keywords
High diagnostic performance of independent alpha-synuclein seed amplification assays for detection of early Parkinson’s disease
Sign Up to like & getrecommendations! Published in 2021 at "Acta Neuropathologica Communications"
DOI: 10.1186/s40478-021-01282-8
Abstract: Alpha-synuclein seed amplification assays (αSyn-SAAs) are promising diagnostic tools for Parkinson’s disease (PD) and related synucleinopathies. They enable detection of seeding-competent alpha-synuclein aggregates in living patients and have shown high diagnostic accuracy in several PD… read more here.
Keywords: seed; syn saa; synuclein seed; alpha synuclein ... See more keywords
Serum microRNA signatures and metabolomics have high diagnostic value in hepatocellular carcinoma
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.22224
Abstract: Background Many new diagnostic biomarkers have been developed for hepatocellular carcinoma (HCC). We selected two methods with high diagnostic value, the detection of serum microRNAs and metabolomics based on gas chromatography/mass spectrometry (GC/MS), and attempted… read more here.
Keywords: hepatocellular carcinoma; diagnostic efficiencies; value; diagnostic value ... See more keywords