Results 101 to 110 of about 314,265 (261)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou +6 more
wiley +1 more source
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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.A modified heterotopic heart transplantation (HTx) in rats was reported to improve the surgical success rate, in which the donor's vessels, the brachiocephalic trunk (BT) and the pulmonary artery (PA), were sutured to the recipient's left renal artery (RA) and left renal vein (RV).
Meng Wang, Wuxia Wang, Xunfeng Zou
wiley +1 more source
Annals of Neurology, EarlyView.Objective To evaluate the real‐world safety and efficacy for standard surgical risk patients with extracranial internal carotid artery disease undergoing transcarotid artery revascularization. Methods ROADSTER 3 is a prospective, multicenter, single‐arm post‐approval study.
Jeffrey Jim +15 more
wiley +1 more source
Transcatheter Aortic-Valve Implantation for Aortic Stenosis in Patients Who Cannot Undergo Surgery
Current Cardiology Reports, 2011 B. Carabello
semanticscholar +1 more source
Comprehending the Membrane Properties for Emulation in Organs‐on‐a‐Chip
Advanced NanoBiomed Research, EarlyView.The advent of organ‐on‐chip models allows closer emulation of in vivo conditions, leading to effective, less costly, and specific drugs. Although a number of membrane‐based on‐chip models exist, better emulating functional models need to be devised for organ simulations.
Tanmayee Makarand Sathe +1 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract New data on the equine aortic valve obtained using advanced techniques is especially important given the greater availability of animal models for translational research. Here we characterized the morphological and morphometric aspects of the equine aortic valve from 60 healthy hearts collected at equine abattoirs.
Vitor Pires Pereira +3 more
wiley +1 more source