Results 101 to 110 of about 130,928 (302)
Journal of Infection and Public Health, 2018 Neurocysticercosis is a common parasitic infection in children in developing countries and neurological symptoms such as seizures are the most common manifestations. However, symptoms of encephalopathy are an unusual presentation in children.
Indar K. Sharawat +4 more
doaj +1 more source
Advanced Intelligent Discovery, EarlyView.scTIGER2.0 is a deep‐learning framework that infers gene regulatory networks from single‐cell RNA sequencing data. By integrating correlation, pseudotime ordering, deep learning and bootstrap‐based significance testing, it reduces false positives and reveals directional gene interactions.
Nishi Gupta +3 more
wiley +1 more source
The many roads to psychosis: recent advances in understanding risk and mechanisms. [PDF]
, 2018 Schizophrenia is a chronic and severe mental illness which frequently leads to substantial lifelong disability. The past five years have seen major progress in our understanding of the complex genetic architecture of this disorder.
Bearden, Carrie E, Forsyth, Jennifer K
core
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Normative longitudinal EEG recordings during sleep stage II in the first year of age
Scientific DataThe electroencephalogram (EEG) is a fundamental diagnostic procedure that explores brain function. This manuscript describes the characteristics of a sample of healthy at-term infants.
Thalía Harmony +4 more
doaj +1 more source
Human in vitro models for understanding mechanisms of autism spectrum disorder. [PDF]
, 2020 Early brain development is a critical epoch for the development of autism spectrum disorder (ASD). In vivo animal models have, until recently, been the principal tool used to study early brain development and the changes occurring in neurodevelopmental ...
Geschwind, Daniel H, Gordon, Aaron
core
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn +11 more
wiley +1 more source