American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
The orphan receptor GPR35 contributes to angiotensin II–induced hypertension and cardiac dysfunction in mice [PDF]
, 2018 BACKGROUND: The orphan receptor G protein–coupled receptor 35 (GPR35) has been associated with a range of diseases, including cancer, inflammatory bowel disease, diabetes, hypertension, and heart failure.
Divorty, Nina +3 more
core +1 more source
Atrial septum stenting in a foetus with hypoplastic left heart syndrome and restrictive foramen ovale: an alternative to emergency atrioseptectomy in the newborn—a case report [PDF]
, 2020 Andreas Tulzer +3 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source
Influence of Atrioventricular Nodal Reentrant Tachycardia Ablation on Right to Left Inter-atrial Conduction [PDF]
, 2005 Background: Radiofrequency (RF) catheter ablation is the procedure of choice for the potential cure of atrioventricular nodal reentrant tachycardia (AVNRT) with high success rates.
Akyol, Ahmet +3 more
core +2 more sources
Soluble ST2 levels and left ventricular structure and function in patients with metabolic syndrome [PDF]
, 2016 Background: A biomarker that is of great interest in relation to adverse cardiovascular events is soluble ST2 (sST2), a member of the interleukin family.
Beunza, Maite +14 more
core +1 more source
Anti-asthma Drugs Formoterol and Budesonide (Symbicort) Induce Orofacial Clefts, Gastroschisis and Heart Septum Defects in an In Vivo Model. [PDF]
In Vivo, 2021 Peterka M +3 more
europepmc +1 more source
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure
American 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
Pbx loss in cranial neural crest, unlike in epithelium, results in cleft palate only and a broader midface. [PDF]
, 2018 Orofacial clefting represents the most common craniofacial birth defect. Cleft lip with or without cleft palate (CL/P) is genetically distinct from cleft palate only (CPO).
Berkes +78 more
core +1 more source
Echocardiography of a Restrained Heart: Look Closely at the Septum!
, 2021 Rohan Magoon, Neeti Makhija
openalex +2 more sources