During the processes leading to adverse cardiac remodeling and heart failure,
cardiomyocytes react to neurohumoral stimuli and biomechanical stress by activating …

Congenital heart disease is a major cause of morbidity and mortality throughout life.
Mutations in numerous transcription factors have been identified in patients and families with …

The olfactory receptor (OR)–gene superfamily is the largest in the mammalian genome.
Several of the human OR genes appear in clusters with⩾ 10 members located on almost all …

Background: Recent reports have identified mutations in the transcription factor GATA4 in
familial cases of cardiac septal defects. The prevalence of GATA4 mutations in the …

Recurrent interstitial deletion of a region of 8p23. 1 flanked by the low copy repeats 8p‐OR‐
REPD and 8p‐OR‐REPP is associated with a spectrum of anomalies that can include …

METHODS Patients Eighty four white Italian patients were recruited. Informed consent and
family history were obtained from all subjects and their parents. Patients were ascertained …

The third edition of this established reference is the product of the combined efforts of many
professionals–obstetricians, pediatric cardiologists, sonographers, molecular biologists, and …

METHODS Subjects Patients were recruited at the Pediatric Cardiology Unit of the Bambino
GesuHospital and Policlinico Umberto I Hospital in Rome, Italy. Sporadic patients were …

Cardiovascular malformations are a singularly important class of birth defects and due to
dramatic improvements in medical and surgical care, there are now large numbers of adult …

Submicroscopic chromosomal rearrangements that lead to copy-number changes have
been shown to underlie distinctive and recognizable clinical phenotypes. The sensitivity to …