Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha +6 more
wiley +1 more source
Effect of vNOTES hysterectomy with uterosacral ligament suspension on overactive bladder symptoms in patients with pelvic organ prolapse: a retrospective cohort study. [PDF]
Turk J Med SciTürker Ergün G +4 more
europepmc +1 more source
Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud +6 more
wiley +1 more source
Urinary and Sexual Function Outcomes After Ultrasound-Guided High-Intensity Focused Ultrasound for Uterine Fibroids: Associations of Lower Urinary Tract Symptoms with Fibroid Location and Uterine Morphology. [PDF]
BiomedicinesLong CY, Jeng CJ, Ke LY.
europepmc +1 more source
Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi +10 more
wiley +1 more source
Correction: Randomized trial of transcutaneous tibial nerve stimulation to treat overactive bladder in older women. [PDF]
PLoS OneD'Alessandro Barbosa MV +6 more
europepmc +1 more source
Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio +4 more
wiley +1 more source
Authors' Response to the Letter to the Editor Regarding "A Novel Template for Intravesical Botulinum Toxin Injection in Patients With Idiopathic Overactive Bladder: A Cohort Study". [PDF]
Neurourol UrodynSalcedo GG +3 more
europepmc +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
Bladder Antimuscarinic Use and Cognitive Impairment in Adults Aged 75 Years or Older With Urinary Incontinence or Overactive Bladder Symptoms: A Population-Based Study. [PDF]
Pharmacoepidemiol Drug SafHuang R, Huang M, Zhang R.
europepmc +1 more source