Neurodevelopmental Disorders
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Subject Areas on Research
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
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A complex of distal appendage-associated kinases linked to human disease regulates ciliary trafficking and stability.
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
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ASTN2 modulates synaptic strength by trafficking and degradation of surface proteins.
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Adolescent alcohol use disrupts functional neurodevelopment in sensation seeking girls.
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Antifungal Susceptibility and Clinical Outcome in Neonatal Candidiasis.
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Barriers to enrollment in a randomized controlled trial of hydrocortisone for cardiovascular insufficiency in term and late preterm newborn infants.
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Behavioral Deficits at 18-22 Months of Age Are Associated with Early Cerebellar Injury and Cognitive and Language Performance in Children Born Extremely Preterm.
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Changes in protein function underlie the disease spectrum in patients with CHIP mutations.
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Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.
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Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
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Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study.
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Conserved and divergent expression dynamics during early patterning of the telencephalon in mouse and chick embryos.
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
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De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
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Early Detection and Prevention of Mental Health Problems: Developmental Epidemiology and Systems of Support.
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Early prenatal vitamin D concentrations and social-emotional development in infants.
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Effect of Depth and Duration of Cooling on Death or Disability at Age 18 Months Among Neonates With Hypoxic-Ischemic Encephalopathy: A Randomized Clinical Trial.
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Extreme Preterm Infant Rates of Overweight and Obesity at School Age in the SUPPORT Neuroimaging and Neurodevelopmental Outcomes Cohort.
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Family members' experience of well-being as racial/ethnic minorities raising a child with a neurodevelopmental disorder: A qualitative meta-synthesis.
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Growth Asymmetry, Head Circumference, and Neurodevelopmental Outcomes in Infants with Single Ventricles.
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Growth Rates of Infants Randomized to Continuous Positive Airway Pressure or Intubation After Extremely Preterm Birth.
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Growth trajectory and neurodevelopmental outcome in infants with congenital diaphragmatic hernia.
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Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
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Higher or Lower Hemoglobin Transfusion Thresholds for Preterm Infants.
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Hydrocortisone to Improve Survival without Bronchopulmonary Dysplasia.
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Hyperglycaemia in infants with hypoxic-ischaemic encephalopathy is associated with improved outcomes after therapeutic hypothermia: a post hoc analysis of the CoolCap Study.
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Impact of Early-Onset Sepsis and Antibiotic Use on Death or Survival with Neurodevelopmental Impairment at 2 Years of Age among Extremely Preterm Infants.
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Influenza vaccination in children with neurologic or neurodevelopmental disorders.
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Initial Laparotomy Versus Peritoneal Drainage in Extremely Low Birthweight Infants With Surgical Necrotizing Enterocolitis or Isolated Intestinal Perforation: A Multicenter Randomized Clinical Trial.
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Integrating neurocritical care approaches into neonatology: should all infants be treated equitably?
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Interactions of innate and adaptive immunity in brain development and function.
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Is Adult ADHD a Childhood-Onset Neurodevelopmental Disorder? Evidence From a Four-Decade Longitudinal Cohort Study.
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Long-Term Neurobehavioral and Quality of Life Outcomes of Critically Ill Children after Glycemic Control.
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Maternal immune activation: reporting guidelines to improve the rigor, reproducibility, and transparency of the model.
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Maternal pre-pregnancy obesity and child neurodevelopmental outcomes: a meta-analysis.
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MicroRNA-29 is an essential regulator of brain maturation through regulation of CH methylation.
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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
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Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
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Neurodevelopmental Outcomes of Preterm Infants With Retinopathy of Prematurity by Treatment.
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Neurodevelopmental Risk: A Tool to Enhance Conversations With Families of Infants.
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Neurodevelopmental and Behavioral Outcomes in Extremely Premature Neonates With Ventriculomegaly in the Absence of Periventricular-Intraventricular Hemorrhage.
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Neurodevelopmental outcomes at 5years of age in congenital diaphragmatic hernia.
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Neurologic complications of congenital heart disease in adults.
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Outcomes of Extremely Preterm Infants With Birth Weight Less Than 400 g.
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PURA Syndrome and Myotonia.
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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
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Pediatric Neurodevelopmental Delays in Children 0 to 5 Years of Age With Sickle Cell Disease: A Systematic Literature Review.
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Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
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Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
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Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
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Prenatal environmental stressors impair postnatal microglia function and adult behavior in males.
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Progress in Understanding and Treating SCN2A-Mediated Disorders.
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Racial/Ethnic Disparities Among Extremely Preterm Infants in the United States From 2002 to 2016.
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Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
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Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
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Resident Dyads Providing Transition Care to Adolescents and Young Adults With Chronic Illnesses and Neurodevelopmental Disabilities.
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Six-Year Neurodevelopmental Outcomes for Children With Single-Ventricle Physiology.
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Sleep Problems and Trajectories of Restricted and Repetitive Behaviors in Children with Neurodevelopmental Disabilities.
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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
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Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
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Survival and Neurodevelopmental Outcomes among Periviable Infants.
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
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The exon junction complex in neural development and neurodevelopmental disease.
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The inflammatory event of birth: How oxytocin signaling may guide the development of the brain and gastrointestinal system.
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Timing of postnatal steroids for bronchopulmonary dysplasia: association with pulmonary and neurodevelopmental outcomes.
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ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.
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Keywords of People