Results 161 to 170 of about 102,585 (258)

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Whole-Exome Sequencing to Screen Personal Neoantigens With High Immunogenicity in Patients With Microsatellite Stability (MSS)-Advanced Colorectal Cancer. [PDF]

Hum Mutat
Li D, Shen W, Yang S, Liu H, Tan X, He X, Hao J, Yin X.   +7 more
europepmc   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Identification of an emerging heterozygous variant in KAT6A by whole exome sequencing: a case report. [PDF]

Transl Pediatr
Guo W, Wang H, Ling S, Liu T, Wang M, Zhang Y.   +5 more
europepmc   +1 more source

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims, Lou Pistorius, Denise Sproul, Catherine Anne Cluver   +3 more
wiley   +1 more source

A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders. [PDF]

Ital J Pediatr
Salah S, Mobarak A, Alshanbari SN, Bukhari AA, Alsobhi F, Farahat SAA, Masmali HM.   +6 more
europepmc   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience. [PDF]

Mol Genet Genomic Med
Lin HH, Tsai MM, Chen HA, Hsu RH, Lin YS, Lin YL, Hsu C, Chien YH, Hwu WL, Lee NC.   +9 more
europepmc   +1 more source

Whole exome sequencing

, 2014
Bou de Pieri, Francesc, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
openaire   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source