A copy number variation map of the human genome
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
Left ventricular non-compaction cardiomyopathy
JA Towbin, A Lorts, JL Jefferies - The Lancet, 2015 - thelancet.com
Left ventricular non-compaction, the most recently classified form of cardiomyopathy, is
characterised by abnormal trabeculations in the left ventricle, most frequently at the apex. It …
characterised by abnormal trabeculations in the left ventricle, most frequently at the apex. It …
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Migraine is a debilitating neurological disorder affecting around one in seven people
worldwide, but its molecular mechanisms remain poorly understood. There is some debate …
worldwide, but its molecular mechanisms remain poorly understood. There is some debate …
Left ventricular noncompaction: a distinct genetic cardiomyopathy?
Left ventricular noncompaction (LVNC) describes a ventricular wall anatomy characterized
by prominent left ventricular (LV) trabeculae, a thin compacted layer, and deep …
by prominent left ventricular (LV) trabeculae, a thin compacted layer, and deep …
Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci
Meta-analyses of association results for blood pressure using exome-centric single-variant
and gene-based tests identified 31 new loci in a discovery stage among 146,562 …
and gene-based tests identified 31 new loci in a discovery stage among 146,562 …
Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors
J Finsterer, C Stoellberger, JA Towbin - Nature Reviews Cardiology, 2017 - nature.com
Left ventricular hypertrabeculation (LVHT) or noncompaction is a myocardial abnormality of
unknown aetiology, frequently associated with monogenic disorders, particularly …
unknown aetiology, frequently associated with monogenic disorders, particularly …
[图书][B] Moss & Adams' heart disease in infants, children, and adolescents: including the fetus and young adult
HD Allen, DJ Driscoll, RE Shaddy, TF Feltes - 2013 - books.google.com
This 8th Edition of Moss and Adams' Heart Disease in Infants, Children, and Adolescents:
Including the Fetus and Young Adult, provides updated and useful information from leading …
Including the Fetus and Young Adult, provides updated and useful information from leading …
PRDM16 is a compact myocardium-enriched transcription factor required to maintain compact myocardial cardiomyocyte identity in left ventricle
Background: Left ventricular noncompaction cardiomyopathy (LVNC) was discovered half a
century ago as a cardiomyopathy with excessive trabeculation and a thin ventricular wall. In …
century ago as a cardiomyopathy with excessive trabeculation and a thin ventricular wall. In …
Left ventricular noncompaction: a distinct cardiomyopathy or a trait shared by different cardiac diseases?
E Arbustini, F Weidemann, JL Hall - Journal of the American College of …, 2014 - jacc.org
Whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a
morphologic trait shared by different cardiomyopathies remains controversial. Current …
morphologic trait shared by different cardiomyopathies remains controversial. Current …
[HTML][HTML] RBPMS is an RNA-binding protein that mediates cardiomyocyte binucleation and cardiovascular development
Noncompaction cardiomyopathy is a common congenital cardiac disorder associated with
abnormal ventricular cardiomyocyte trabeculation and impaired pump function. The genetic …
abnormal ventricular cardiomyocyte trabeculation and impaired pump function. The genetic …