Results 181 to 190 of about 129,264 (305)

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady   +10 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Criss cross heart: an outflow tract defect? [PDF]

open access: yesOrphanet J Rare Dis
Bernheim S   +6 more
europepmc   +1 more source

CARDIAC TRANSPLANTATION IN THE RAT [PDF]

open access: yes, 1989
CHAPMAN, FRANCES A   +6 more
core   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam   +4 more
wiley   +1 more source

One Ventricle, 3000 Proteins: Unraveling the Molecular Landscape of the Fontan Circulation

open access: yesJournal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Jennifer P. Woo, Alexander R. Opotowsky
doaj   +1 more source

Percutaneous Interventions for Heart Failure in Congenital Heart Disease. [PDF]

open access: yesCurr Cardiol Rep
Schrutka L   +5 more
europepmc   +1 more source

Isovolumic relaxation strain imaging is an accurate and sensitive approach for detection of active diastolic dysfunction: A preclinical study

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang   +3 more
wiley   +1 more source

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