Results 91 to 100 of about 60,528 (234)
Molecular Genetics &Genomic Medicine, Volume 12, Issue 10, October 2024.An additional 28.9% (43/149) diagnostic yield was increased by WES in the prenatal evaluation of foetuses with any CNS abnormalities anomaly following negative results by karyotyping and chromosome array. WES may also be of benefit for foetuses with isolated CNS anomalies.
Caiqun Luo +12 more
wiley +1 more source
Sammenheng mellom genotype og fenotype ved Williams syndrom [PDF]
, 2005 Williams syndrome (WS) is characterized by cardiac and vessel malformations as well as cognitive abnormalities. The syndrome is caused by a 1.5-1.6 Mb deletion in the long arm of chromosome 7.
Lillegraven, Siri
core
Congenital heart disease: types, pathophysiology, diagnosis, and treatment options
MedComm, Volume 5, Issue 7, July 2024.In this review, we provide an update of the pathophysiology, diagnosis, and treatment in most common type of CHD, including patent foramen ovale, atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent ductus arteriosus, coarctation of the aorta, transposition of the great arteries, corrected transposition of the great ...
Xiao Meng +6 more
wiley +1 more source
Journal of Veterinary Internal Medicine, 2020 We read with interest the case report “ Aortopulmonary fistula in a Warmblood mare associated with an aortic aneurysm and supravalvular aortic stenosis ” .
C. Guglielmini +3 more
semanticscholar +1 more source
Systolic ejection murmurs and the left ventricular outflow tract in boxer dogs [PDF]
, 2007 Turbulence of various genesis in the left ventricular outflow tract (LVOT) causes systolic ejection murmurs. The prevalence of murmurs in adult boxer dogs is 50-80%, the majority of which are of low intensity.
Höglund, Katja
core
Journal of Cellular and Molecular Medicine, Volume 28, Issue 12, June 2024.Abstract Cardiovascular diseases (CVDs) are the leading cause of mortality worldwide. While both genetic and environmental factors significantly contribute to the pathogenesis of CVDs, recent advancements in genetic technology have further emphasized the significance of genetic factors in CVDs.
Niloofar Naderi +3 more
wiley +1 more source
Progress of Congenital Heart Disease: The Team Approach as It Includes the Anesthesiologist [PDF]
, 1972 Advances in cardiac surgery have been great in the last 30 years, but further progress is anticipated, especially in infants. A cooperative effort involving referring physicians, pediatric cardiologists, physiologists, anesthesiologists, surgeons, and ...
McCue, Carolyn M.
core +1 more source
Cognitive profile in William syndrome: a case study [PDF]
, 2005 Williams Syndrome (WS) is a rare neurodevelopmental disorder, approximately occurring 1 in 20 000 live births, caused by a submicroscopic deletion on band q11.22-23 in chromosome 7.
Carracedo, Ángel +8 more
core +1 more source
Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?
Case Reports in Pediatrics, 2017 Introduction. Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. Case Presentation.
Timothy Andrew Walsh +2 more
doaj +1 more source
Myocardial proteome changes in aortic stenosis rats subjected to long‐term aerobic exercise
Journal of Cellular Physiology, Volume 239, Issue 4, April 2024.Abstract The effects of exercise training (ET) on the heart of aortic stenosis (AS) rats are controversial and the mechanisms involved in alterations induced by ET have been poorly clarified. In this study, we analyzed the myocardial proteome to identify proteins modulated by moderate‐intensity aerobic ET in rats with chronic supravalvular AS.
Gustavo Augusto Ferreira Mota +12 more
wiley +1 more source