Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

Authors: Luigia De Falco, Giovanni Savarese, Teresa Suero, Sonia Amabile, Raffaella Ruggiero, Pasquale Savarese, Antonio Fico

Source: Clinical Case Reports, Vol 7, Iss 10, Pp 1977-1981 (2019)

Subject Terms: aneuploidies, circulating cell‐free fetal DNA, non‐invasive prenatal testing, sex discordance, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2050-0904

Access URL: https://doaj.org/article/eab8f6c5b34b477296ad893143dffccc

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy

Authors: Ylenia D’Agostino, Domenico Palumbo, Maria Rosaria Rusciano, Oriana Strianese, Sonia Amabile, Domenico Di Rosa, Elena De Angelis, Valeria Visco, Fabio Russo, Elena Alexandrova, Annamaria Salvati, Giorgio Giurato, Giovanni Nassa, Roberta Tarallo, Gennaro Galasso, Michele Ciccarelli, Alessandro Weisz, Francesca Rizzo

Source: Diagnostics, Vol 12, Iss 10, p 2411 (2022)

Subject Terms: cardiovascular disease, dilated cardiomyopathy (DCM), next-generation sequencing (NGS), whole-exome sequencing (WES), variant detection, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/2075-4418/12/10/2411; https://doaj.org/toc/2075-4418

Access URL: https://doaj.org/article/98a42333d51a42feb4155b43407d2137