Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience

KY van Spaendonck‐Zwarts… - European journal of …, 2013 - Wiley Online Library
Aims With more than 40 dilated cardiomyopathy (DCM)‐related genes known, genetic
analysis of patients with idiopathic DCM is costly and time‐consuming. We describe the …

Neurohormonal and clinical sex differences in heart failure

S Meyer, P van der Meer, VM van Deursen… - European heart …, 2013 - academic.oup.com
Aims Despite disparities in pathophysiology and disease manifestation between male and
female patients with heart failure, studies focusing on sex differences in biomarkers are …

'State-of-the-heart'of cardiac laminopathies

ME Cattin, A Muchir, G Bonne - Current opinion in cardiology, 2013 - journals.lww.com
‘State-of-the-heart’ of cardiac laminopathies : Current Opinion in Cardiology ‘State-of-the-heart’
of cardiac laminopathies : Current Opinion in Cardiology Log in or Register Subscribe to …

Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations

T Arimura, K Onoue, Y Takahashi-Tanaka… - Cardiovascular …, 2013 - academic.oup.com
Aims Dilated cardiomyopathy (DCM) is characterized by ventricular dilation associated with
systolic dysfunction, which could be caused by mutations in lamina/C gene (LMNA). LMNA …

Skeletal muscle involvement in cardiomyopathies

G Limongelli, R D'Alessandro… - Journal of …, 2013 - journals.lww.com
The link between heart and skeletal muscle disorders is based on similar molecular,
anatomical and clinical features, which are shared by the 'primary'cardiomyopathies and …

Is gender becoming relevant in uro-oncological research? A bibliographical analysis

F Kunath, B Keck, S Bertz, S Brookman-May… - World journal of …, 2013 - Springer
Introduction Gender differences are increasingly recognized as important in numerous
diseases and found to be relevant in various cancer entities. While a larger number of …