Publications by authors named "Tanju Demiroren"
Article Synopsis
- The text discusses a specific gene, bhlhe22, which plays a crucial role in retinal and brain development by encoding a transcription factor involved in neural differentiation.
- Researchers identified eleven individuals from nine families with variants in this gene linked to a neurodevelopmental disorder characterized by speech limitations, severe motor impairments, intellectual disabilities, and other neurological symptoms, including agenesis of the corpus callosum.
- Genetic analysis revealed that some individuals had harmful missense variants in a critical region of the gene, while others had a recurring frameshift mutation, suggesting that these genetic changes lead to severe cognitive and motor deficits associated with this newly recognized disorder.
Objective: The purpose of this study was to determine the frequency of chromosomal anomalies among the fetuses with isolated and non-isolated aberrant right subclavian artery (ARSA), and to evaluate the sonographic findings associated with ARSA.
Methods: This is a retrospective study conducted during the period between January 2008 and December 2012 at the maternal fetal medicine units of three different referral centers.
Results: Among the 148 cases of ARSA, 98 were isolated and 50 were associated with cardiac anomalies, extracardiac malformations or soft markers.