Results 131 to 140 of about 112,737 (278)
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Clot Composition Profiling in Large Vessel Occlusion Stroke Via Radiomics
Annals of Neurology, EarlyView.Objective Clot composition may offer insights into the mechanism of ischemic stroke. Radiomics, a noninvasive imaging technique, enables tissue characterization through radiomic features (RFs). We aimed to evaluate clot composition using radiomics on non‐contrast computed tomography (NCCT).
Andres Gudino +23 more
wiley +1 more source
Diverse Genetic Etiologies of Unilateral Polymicrogyria
Annals of Neurology, EarlyView.Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai +21 more
wiley +1 more source
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Annals of Neurology, EarlyView.Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov +42 more
wiley +1 more source
BMEMat, EarlyView.Efficient drug delivery to the posterior segment of the eye has long been a challenging issue due to the complex ocular barriers. The review focuses on the promise held by nanoplatforms for barrier penetration and the key mechanisms involved, also highlighting their advantages in achieving efficient drug delivery and superior treatment of PSEDs ...
Yifan Shen +7 more
wiley +1 more source
Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication
Annals of the Child Neurology Society, EarlyView.ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow +8 more
wiley +1 more source
PharmVar GeneFocus: NAT2—Genetic Variation and Updated Nomenclature
Clinical Pharmacology &Therapeutics, EarlyView.The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human N‐acetyltransferase 2 (NAT2) gene. NAT2 metabolizes several clinically used drugs including isoniazid, hydralazine, amifampridine, procainamide, and sulfonamides such as dapsone, and also some highly carcinogenic arylamines.
Georgia Papanikolaou +14 more
wiley +1 more source
BMC OphthalmologyBackground This study aimed to investigate the etiology, clinical characteristics and treatment outcomes of choroidal neovascularization (CNV) in Chinese children and adolescents.
Shenshen Yan +5 more
doaj +1 more source