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Subject Areas on Research
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A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
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A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
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A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
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A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.
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A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.
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A patient with duplication (7)(p22.1pter) characterized by array-CGH.
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A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome.
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A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.
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Aberrant behaviors of young boys with fragile X syndrome.
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Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.
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Advancing artificial intelligence-assisted pre-screening for fragile X syndrome.
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Adverse events in trials of licensed drugs for irritable bowel syndrome with constipation or diarrhea: Systematic review and meta-analysis.
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Amebiasis in a mental institution: serologic and epidemiologic studies.
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An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.
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Angelman syndrome: are the estimates too low?
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Are there other disorders or disabilities associated with autism?
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Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.
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Assessment of loneliness at school among children with mild mental retardation
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Association of guideline publication and delays to treatment in pediatric status epilepticus.
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Association of the Robin sequence with the fragile X syndrome.
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Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome.
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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
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Atypical behaviors in children with autism and children with a history of language impairment.
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Automated Detection of Repetitive Motor Behaviors as an Outcome Measurement in Intellectual and Developmental Disabilities.
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Behavior problems in children with the presenting problem of poor school performance.
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Behavioural equivalents of anxiety in children with fragile X syndrome: parent and teacher report.
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Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.
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Brief Report: Classifying Rates of Students with Autism and Intellectual Disability in North Carolina: Roles of Race and Economic Disadvantage.
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Brief clinical report and review: the Marden-Walker syndrome.
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Brief report: neuropsychology of autism: a report on the state of the science.
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Case 6. Abnormal facies and mental retardation in a patient with cystic fibrosis of the pancreas.
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Cerebral polygyria in the Chiari Type II (Arnold-Chiari) malformation.
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Changes in cardiovascular health and physical fitness in ethnic youth with intellectual disabilities participating in a park-based afterschool programme for two years.
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Childhood outcomes after hypothermia for neonatal encephalopathy.
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Choanal atresia in a patient with the deletion (9p) syndrome.
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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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Clinical and immunologic features of selective IgA deficiency.
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Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome.
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Common-variant associations with fragile X syndrome.
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Communication of Psychiatric Risk in 22q11.2 Deletion Syndrome: A Pilot Project.
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Contribution of sickle cell disease to the occurrence of developmental disabilities: a population-based study.
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Cornelia de Lange syndrome in diverse populations.
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Cyclicity of aggression and self-injurious behavior in individuals with mental retardation.
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Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.
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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
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De novo mutations in epileptic encephalopathies.
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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
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Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia.
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Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
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Developmental trajectories of executive functions in young males with fragile X syndrome.
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Dimensional diagnosis and the medical student's grasp of psychiatry.
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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
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Drug use management in board and care facilities.
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.
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Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?
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Dynamics of lip dyskinesia associated with neuroleptic withdrawal.
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Early recognition of 1-year-old infants with autism spectrum disorder versus mental retardation.
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Educational classifications of autism spectrum disorder and intellectual disability among school-aged children in North Carolina: Associations with race, rurality, and resource availability.
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Effect of Cord Blood Magnesium Level at Birth on Non-neurologic Neonatal Outcomes.
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Effectiveness of a home based early intervention program with infants of adolescent mothers.
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Effects of a procedure derived from the overcorrection principle on manipulated and nonmanipulated behaviors.
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Effects of a verbal warning and overcorrection on stereotyped and appropriate behaviors.
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Effects of cue-controlled relaxation on psychomotor seizures: an experimental analysis.
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Efficacy of the ketogenic diet in Lennox-Gastaut syndrome: a retrospective review of one institution's experience and summary of the literature.
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Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve.
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Epilepsy in KCNH1-related syndromes.
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Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency.
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
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Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case.
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Focal cerebral metabolic abnormality in a patient with continuous spike waves during slow-wave sleep.
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Fryns syndrome survivors and neurologic outcome.
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Gabapentin in the treatment of refractory partial epilepsy in children with intellectual disability.
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Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.
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Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.
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Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene.
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HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
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Health Care Transition for Adolescent and Young Adults with Intellectual Disability: Views from the Parents.
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Identifying Individuals With Intellectual Disability Within a Population Study.
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Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.
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Inequities in Receipt of the North Carolina Medicaid Waiver Among Individuals with Intellectual Disability or Autism Spectrum Disorder.
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Influence of gestational age on death and neurodevelopmental outcome in premature infants with severe intracranial hemorrhage.
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Influenza vaccination in children with neurologic or neurodevelopmental disorders.
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LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
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Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
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Lateralized brain dysfunction in autism: evidence from the Halstead-Reitan neuropsychological battery.
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Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
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Medical paternalism or legal imperialism: not the only alternatives for handling Saikewicz-type cases.
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Metabolic effects associated with atypical antipsychotic treatment in the developmentally disabled.
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Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
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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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Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.
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Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
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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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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
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Navigating risks and professional roles: research with lesbian, gay, bisexual, trans, and queer young people with intellectual disabilities.
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Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association.
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Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.
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Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation.
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Nursing home reform and the mentally ill.
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Occurrence of vascular anomalies in unilateral cerebral hypoplasia. "Cerebral hemiatrophy".
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Onset of dyskinesia and changes in postural task performance during the course of neuroleptic withdrawal.
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
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Partial duplication of 4q12q13 leads to a mild phenotype.
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Performance on the dimensional change card sort and backward digit span by young children with autism without intellectual disability.
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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
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Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.
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Physically, mentally disabled teens require special contraceptive care.
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
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Practitioner versus medication-expert opinion on psychiatric pharmacotherapy of mentally retarded patients with mental disorders.
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Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment.
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Pyridoxine-dependent seizures and cognition in adulthood.
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Recall memory in children with Down syndrome and typically developing peers matched on developmental age.
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Resting-state activity in development and maintenance of normal brain function.
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Ring chromosome 17: phenotype variation by deletion size.
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Risperidone and explosive aggressive autism.
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SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
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Seeking safer sexual spaces: queer and trans young people labeled with intellectual disabilities and the paradoxical risks of restriction.
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Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association.
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Shigellosis in custodial institutions.
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Silent cerebral infarct definitions and full-scale IQ loss in children with sickle cell anemia.
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Situation generality of overcorrective functional movement training.
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Social impairments in alternating hemiplegia of childhood.
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Standing Up For My Sister.
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Story recall by mentally retarded children.
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Substance abuse among individuals with intellectual disabilities.
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Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population.
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Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
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The Vineland Adaptive Behavior Scales: supplementary norms for individuals with autism.
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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 demands and limits of care--ethical reflections on the moral dilemma of neonatal intensive care.
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The diagnostic utility of WISC-R measures with children referred to a developmental evaluation center.
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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
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The effects of social punishment on noncompliance: a comparison with timeout and positive practice.
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The healthy families act: vital support for families of people with developmental disabilities.
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The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
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The natural history of change in intellectual performance: who changes? How much? Is it meaningful?
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The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa.
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The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.
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Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?
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Townes-Brocks syndrome in two mentally retarded youngsters.
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Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development.
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Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.
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Treatment outcome of creatine transporter deficiency: international retrospective cohort study.
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Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma.
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Use of urine alarms in toilet training children with intellectual and developmental disabilities: A review.
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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.
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Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
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X-linked lissencephaly in an Indian family.
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Keywords of People
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Bradford, William Dalton,
Professor of Pathology,
Pathology
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O'Hare, Frances Catherine,
Consulting Associate in the Department of Medicine,
Medicine, General Internal Medicine
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Silver, Debra Lynn,
Associate Professor of Molecular Genetics and Microbiology,
Duke Science & Society
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Wu, Li-Tzy,
Professor in Psychiatry and Behavioral Sciences,
Medicine, General Internal Medicine