Results 171 to 180 of about 2,377,574 (384)
Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren +10 more
wiley +1 more source
Catheterization and Cardiovascular Interventions, Volume 100, Issue 7, Page 1291-1299, December 1, 2022., 2022 Abstract Background Severe tricuspid regurgitation (TR) is independently associated with increased morbidity and mortality. Percutaneous transcatheter approaches may offer an alternative for patients not amenable to surgery. Methods TriCLASP is a prospective, single‐arm, multicenter European post‐market clinical follow‐up study (NCT04614402) to ...
Stephan Baldus +18 more
wiley +1 more source
Annals of Pediatric Cardiology, 2011 Manifestations of anomalous left coronary artery from the pulmonary trunk may be masked in the presence of an associated shunt lesion that prevents fall of pulmonary artery pressures and allows perfusion of the anomalous coronary artery.
Awasthy Neeraj +2 more
doaj
Pulmonary Hypertension and a Continuous Murmur Due to Multiple Peripheral Stenoses of the Pulmonary Arteries [PDF]
, 1958 William G. Smith
openalex +1 more source
Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source
Coronary angiography of the ex‐situ beating donor heart in a portable organ care system
Catheterization and Cardiovascular Interventions, Volume 100, Issue 7, Page 1252-1260, December 1, 2022., 2022 Abstract Objectives To determine safety and feasibility of ex‐situ coronary angiography. Background To cater for the perpetually growing demand for heart donors, interest in donation following circulatory death (DCD) has been rekindled. Further pursuit of donor pool expansion has led to eligibility extension to “marginal” donors who are at higher risk ...
Thomas Meredith +10 more
wiley +1 more source
Congenital Aortic Septal Defect with Communication between Aorta and Pulmonary Artery [PDF]
, 1950 Herta Spencer, Harvey J. Dworken
openalex +1 more source
Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina +6 more
wiley +1 more source
Catheterization and Cardiovascular Interventions, Volume 100, Issue 7, Page 1242-1251, December 1, 2022., 2022 Abstract Background In patients with some cardiovascular disease conditions, slightly elevated body mass index (BMI) is associated with a lower mortality risk (termed “obesity paradox”). It is uncertain, however, if this obesity paradox exists in patients who have had invasive cardiology procedures.
Jari A. Laukkanen +16 more
wiley +1 more source