Results 141 to 150 of about 485,578 (357)
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
Ectatic coronary arteries, a cause for myocardial infarction with non-obstructive coronary arteries
Asian Journal of Internal MedicineEctatic coronary arteries are an abnormal dilation of the coronary arteries and can contribute to the development of myocardial infarction with non-obstructive coronary arteries (MINOCA).
K. E. Chithrapathra +2 more
doaj +1 more source
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
Математические модели развития и компенсации гипоксических состояний при ишемической болезни сердца у лиц летного состава [PDF]
, 2019 The increase of pilots’ labor intensity caused by rapid development of flight technologies and increasing of complexity of combat missions faced by flight crew members increases the loads on organisms of flight personnel in general and in particular on
Аралова, Наталия Игоревна +3 more
core
Automatic calcium scoring in low-dose chest CT using deep neural networks with dilated convolutions
, 2018 Heavy smokers undergoing screening with low-dose chest CT are affected by cardiovascular disease as much as by lung cancer. Low-dose chest CT scans acquired in screening enable quantification of atherosclerotic calcifications and thus enable ...
de Jong, Pim A. +6 more
core +1 more source
Arteriosclerosis, Thrombosis, and Vascular Biology, 2020 Harsh, Agrawal +4 more
openaire +2 more sources
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green +2 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source
Атеросклероз, 2010 Features of the affection of coronary arteries according to the data of selective coronary angiography (SCAG) and multispiral computer tomography (MSCT) of aboriginal and alien population of Yakutia are evaluated. The results of SCAG and MSCT of patients
N. V. Maharova +4 more
doaj