Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the American College of Cardiology"
DOI: 10.1016/j.jacc.2017.12.019
Abstract: BACKGROUND The clinical outcomes of noncompaction cardiomyopathy (NCCM) range from asymptomatic to heart failure, arrhythmias, and sudden cardiac death. Genetics play an important role in NCCM. OBJECTIVES This study investigated the correlations among genetics, clinical features,… read more here.
Keywords: mutation; clinical features; genetics; genetics clinical ... See more keywords
Epilepsy genetics: clinical impacts and biological insights
Sign Up to like & getrecommendations! Published in 2020 at "The Lancet Neurology"
DOI: 10.1016/s1474-4422(19)30269-8
Abstract: Genomics now has an increasingly important role in neurology clinics. Regarding the epilepsies, innovations centred around technology, analytics, and collaboration have led to remarkable progress in gene discovery and have revealed the diverse array of… read more here.
Keywords: epilepsy genetics; impacts biological; genetics; clinical impacts ... See more keywords
Lynch syndrome genetics and clinical implications.
Sign Up to like & getrecommendations! Published in 2023 at "Gastroenterology"
DOI: 10.1053/j.gastro.2022.08.058
Abstract: Lynch syndrome (LS) is one of the most prevalent hereditary cancer syndromes in man and accounts for some 3% of unselected patients with colorectal or endometrial cancer and 10-15% of those with DNA mismatch repair… read more here.
Keywords: genetics clinical; clinical implications; syndrome genetics; lynch syndrome ... See more keywords
Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.
Sign Up to like & getrecommendations! Published in 2022 at "Reviews in cardiovascular medicine"
DOI: 10.31083/j.rcm2303108
Abstract: Restrictive cardiomyopathy (RCM), a potentially devastating heart muscle disorder, is characterized by diastolic dysfunction due to abnormal muscle relaxation and myocardial stiffness resulting in restrictive filling of the ventricles. Diastolic dysfunction is often accompanied by… read more here.
Keywords: genetics clinical; restrictive cardiomyopathy; clinical overview; cardiomyopathy ... See more keywords