使用超声波和遗传检测对弗里曼-谢尔登综合征的产前诊断. 案例报告案例报告

Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
Endoscopic Ultrasound (EUS):

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

Ultrasonography is an imaging technique that uses high-frequency sound waves to visualize the body's internal structures. It is a non-invasive and safe procedure that does not involve the use of ionizing radiation, making it widely used in various medical fields. Ultrasonography is used to study heart function, blood flow in the neck or extremities, certain conditions such as gallbladder disease, and fetal growth and development.
During an ultrasonography procedure, a handheld device called...

Overview

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...