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Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.
TLDR
Data suggest that mutated Cypher/ZASP can cause dilated cardiomyopathy and INLVM and identify a mechanistic basis. Expand
Early Diagnosis and Treatment of Atrioventricular Block in the Fetus Exposed to Maternal Anti-SSA/Ro-SSB/La Antibodies: A Prospective, Observational, Fetal Kinetocardiogram–Based Study
TLDR
The present findings suggest that an FKCG can detect first-degree AVB in the fetus exposed to maternal anti-SSA/Ro or anti-SSB/La antibodies (or both). Expand
Comparison of N-terminal Pro-B-Type Natriuretic Peptide Levels in Critically Ill Children With Sepsis Versus Acute Left Ventricular Dysfunction
TLDR
The overlap between N-terminal pro-B-type natriuretic peptide levels in sepsis and acute left ventricular dysfunction precludes the use of the peptide's level as a sole means to differentiate between these conditions. Expand
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation
TLDR
The clear phenotype associated with a homozygous deleterious mutation in the present report falls well within the spectrum of the cardiac defects seen in DiGeorge syndrome, is in agreement with NKX2-6 downstream location in the TBX1 signalling pathway and confirms NKX 2-6 role in human cardiogenesis. Expand
A human laterality disorder associated with recessive CCDC11 mutation
TLDR
The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member. Expand
Absent Ductus venosus in the Fetus: Review of the Literature and First Report of Direct Umbilical Venous Drainage to the Coronary Sinus
TLDR
The literature is reviewed and the first case of a fetus with absent ductus venosus and direct connection of the umbilical vein to the coronary sinus is described. Expand
Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans.
TLDR
The roles of CCDC11 and the implications of the identified mutation on left-right axial patterning in patient-derived cells and in the frog embryo as a model organism are characterized. Expand
Use of Tissue Velocity Imaging in the Diagnosis of Fetal Cardiac Arrhythmias
TLDR
The fetal kinetocardiogram opens a new window to aid in the diagnosis and understanding of fetal arrhythmias, and it provides a tool for studying the action of antiarrhythmic drugs and their effects on electrophysiological conduction in the fetal heart. Expand
Analysis of segmental and global function of the fetal heart using novel automatic functional imaging.
TLDR
Automatic functional imaging, a novel non-Doppler methodology, allows fast and accurate quantification of segmental and global myocardial function in the fetus, and tissue velocity increases with gestational age whereas segmentsal and the new parameter global strain rate decrease throughout gestation. Expand
Assessment of fetal myocardial performance using myocardial deformation analysis.
TLDR
Fetal myocardial velocity, strain, and strain rate measurements are easy to obtain and reproducible, and therefore, may serve as reference data and suggest that fetal myocontractile properties that are already established during the second half of pregnancy remain constant throughout gestation and after birth. Expand
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