Mutation spectrum of congenital heart disease in a consanguineous Turkish population
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1944
Abstract: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. read more here.
Keywords: spectrum congenital; heart disease; mutation spectrum; congenital heart ... See more keywords
The MRI spectrum of congenital cytomegalovirus infection
Sign Up to like & getrecommendations! Published in 2019 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5591
Abstract: Human cytomegalovirus (CMV) is an ubiquitous pathogen, with a high worldwide seroprevalence. When acquired in the prenatal period, congenital CMV (cCMV) is a major cause of neurodevelopmental sequelae and hearing loss. cCMV remains an underdiagnosed… read more here.
Keywords: spectrum congenital; ccmv; mri spectrum; infection ... See more keywords
Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Cardiovascular Electrophysiology"
DOI: 10.1111/jce.15306
Abstract: Long QT syndrome (LQTS) is of great importance as it is the most common cause of sudden cardiac death in childhood. The diagnosis is made by the prolongation of the QTc interval on the electrocardiography.… read more here.
Keywords: long syndrome; spectrum congenital; syndrome turkey; congenital long ... See more keywords