Results 171 to 180 of about 627,955 (365)

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
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

Activatable Photosensitizers: From Fundamental Principles to Advanced Designs

open access: yesAngewandte Chemie, Volume 137, Issue 15, April 7, 2025.
Basic concepts of designing activatable photosensitizers are established in this Review by closely examining quenching mechanisms and bioresponsive constructs essential for their function. New strategies developed in the last five years that address the shortcomings of conventional activatable photosensitizers and which enhance selectivity are also ...
Nahyun Kwon   +3 more
wiley   +2 more sources

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

open access: yesAmerican 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

Echocardiographic evaluation of velocity ratio, velocity time integral ratio, and pulmonary valve area in dogs with pulmonary valve stenosis. [PDF]

open access: yes, 2018
BackgroundVelocity ratio, velocity time integral (VTI) ratio, and pulmonary valve area indexed to body surface area (iPVA) are methods of assessment of pulmonary valve stenosis (PS) severity that are less dependent on blood flow. Studies evaluating these
Bélanger, Catherine   +5 more
core   +1 more source

Congenital Pyloric Stenosis in Binovular Twins [PDF]

open access: green, 1949
E. S. R. Hughes   +2 more
openalex   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones   +6 more
wiley   +1 more source

LES of physiological blood flow in diseased basilar artery: semi-patient specific model [PDF]

open access: yes, 2013
Large Eddy Simulation (LES) is applied to study physiological pulsatile spiral and non-spiral blood flow through a model of an irregular stenosis with an adjacent post-stenotic fusiform irregular aneurysm in basilar artery.
Hye, M.A., Paul, M.C.
core  

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