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Subject Areas on Research
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A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome.
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A mathematical model of glutathione metabolism.
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A protein encoded within the Down syndrome critical region is enriched in striated muscles and inhibits calcineurin signaling.
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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 replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms.
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A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders.
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Abnormal amniotic fetal antigen 2 concentrations in trisomy 18 and trisomy 21.
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Abnormal production of interleukin-1 by microglia from trisomy 16 mice.
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Abnormalities of the cervical spine in Down's syndrome: diagnosis, risks, and review of the literature, with particular reference to the Special Olympics.
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Accelerated epigenetic aging in newborns with Down 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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Altered Folate Homeostasis in Children with Down Syndrome: A Potential Basis for Enhanced Methotrexate Toxicity.
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Alzheimer's disease: genetic aspects and associated clinical disorders.
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An Ultra-miniaturized Near Infrared Spectroscopy System to Assess Sleep Apnea in Children with Down Syndrome.
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Apolipoprotein E epsilon 4 allele distributions in late-onset Alzheimer's disease and in other amyloid-forming diseases.
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Assessment and treatment of Down syndrome-associated arthritis: a survey of pediatric rheumatologists.
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Auditory-Perceptual Speech Features in Children With Down Syndrome.
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Blood biomarkers of methylation in Down syndrome and metabolic simulations using a mathematical model.
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Cardiometabolic profiles in children and adults with overweight and obesity and down syndrome.
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Cell-Free DNA Screening: Complexities and Challenges of Clinical Implementation.
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Cell-free DNA analysis for noninvasive examination of trisomy.
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Cell-free DNA for Down syndrome screening in obese women: Is it a cost-effective strategy?
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Cerebral mycotic aneurysm in a child with Down's syndrome: a unique association.
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Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review.
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Children with autism fail to orient to naturally occurring social stimuli.
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Cholinergic therapy for Down's syndrome.
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Clinical Features and Treatment of Down Syndrome Arthropathy: Experience from Two US Tertiary Hospitals.
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Clinical manifestations of hematologic and oncologic disorders in patients with Down syndrome.
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Clinical trials in children with Down syndrome: issues from a cognitive research perspective.
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Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II.
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Combined serum and ultrasound screening for detection of fetal aneuploidy.
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Commentary: Tipping the Scales: Trisomy 21 may Prevent or Promote Mortality Following Congenital Heart Surgery.
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Conducting clinical trials in persons with Down syndrome: summary from the NIH INCLUDE Down syndrome clinical trials readiness working group.
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Congenital heart surgery outcomes in Down syndrome: analysis of a national clinical database.
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Contemporary outcomes of complete atrioventricular septal defect repair: analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database.
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Coordinated Pediatric and Periodontal Dental Care of a Child with Down syndrome.
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Current perspectives on Down syndrome: selected medical and social issues.
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Detecting celiac disease in patients with Down syndrome.
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Detection of iron deficiency in children with Down syndrome.
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Donepezil effects on language in children with Down syndrome: results of the first 22-week pilot clinical trial.
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Donepezil for Down's syndrome.
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Donepezil for the treatment of language deficits in adults with Down syndrome: a preliminary 24-week open trial.
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Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17.
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Donepezil use in Down syndrome.
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Down Syndrome Disintegrative Disorder: New-Onset Autistic Regression, Dementia, and Insomnia in Older Children and Adolescents With Down Syndrome.
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Down Syndrome-Associated Arthritis Cohort in the New Childhood Arthritis and Rheumatology Research Alliance Registry: Clinical Characteristics, Treatment, and Outcomes.
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Down syndrome childhood acute lymphoblastic leukemia has a unique spectrum of sentinel cytogenetic lesions that influences treatment outcome: a report from the Children's Oncology Group.
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Dysmorphologic features of the fetal pelvis in Down syndrome: prenatal sonographic depiction and diagnostic implications of the iliac angle.
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Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder.
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Extracorporeal Membrane Oxygenation in Pediatric Trisomy 21: 30 Years of Experience from the Extracorporeal Life Support Organization Registry.
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Frequency of celiac disease in individuals with Down syndrome in the United States.
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Further understanding the connection between Alzheimer's disease and Down syndrome.
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Genetic susceptibility to Alzheimer disease.
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Germline variants in predisposition genes in children with Down syndrome and acute lymphoblastic leukemia.
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Health-Related Quality of Life in Individuals with Down Syndrome: Results from a Non-Interventional Longitudinal Multi-National Study.
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Health-related Quality of Life (HR-QOL) and Chronic Health Conditions in Survivors of Childhood Acute Myeloid Leukemia (AML) with Down Syndrome (DS): A Report From the Children's Oncology Group.
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Heritable variation at the chromosome 21 gene ERG is associated with acute lymphoblastic leukemia risk in children with and without Down syndrome.
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Hypothyroidism in Down syndrome: screening guidelines and testing methodology.
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Immunotherapy in selected patients with Down syndrome disintegrative disorder.
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Importance of Oral Health for Adolescents and Adults With Down Syndrome.
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Improvements in physical fitness in adults with Down syndrome.
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Index of suspicion.
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Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample.
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Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome.
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Intensive treatment of dysarthria in two adults with Down syndrome.
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Intramural esophageal hamartoma: a report of two cases and review of the literature.
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Intranasal fluticasone associated with delayed tympanostomy tube placement in children with eustachian tube dysfunction.
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Involvement of the HERV-derived cell-fusion inhibitor, suppressyn, in the fusion defects characteristic of the trisomy 21 placenta.
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Is primary total hip arthroplasty in patients with Down's syndrome associated with increased complications at 2 years follow-up?
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Lack of circulating megakaryoblasts in newborn peripheral blood: development and validation of a sensitive flow cytometric detection method.
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Lineage-specific trisomy 21 in a neonate with resolving transient myeloproliferative syndrome.
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Long-term sequelae in survivors of childhood leukemia with Down syndrome: A childhood cancer survivor study report.
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Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18.
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Moyamoya syndrome in a young person with Down syndrome: diagnostic and therapeutic considerations.
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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
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National down syndrome patient database: Insights from the development of a multi-center registry study.
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Neurocognitive function and joint attention ability in young children with autism spectrum disorder versus developmental delay.
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Neuromuscular Scoliosis: Current Concepts.
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Neuropsychological correlates of early symptoms of autism.
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New onset focal weakness in children with Down syndrome.
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Normal fetal pelvis: important factors for morphometric characterization with US.
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Outcome of transplantation for acute lymphoblastic leukemia in children with Down syndrome.
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Outcome of transplantation for acute myelogenous leukemia in children with Down syndrome.
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Participation in Social Skills Therapy is Associated With Enhanced Recall Memory by Children With Down Syndrome: An Exploratory Study.
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Pediatric Obstructive Sleep Apnea in High-Risk Populations: Clinical Implications.
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Pelvic CT morphometry in Down syndrome: implications for prenatal US evaluation--preliminary results.
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Perioperative care of adults with Down syndrome: a narrative review.
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Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.
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Physical Activity Levels of Children With Down Syndrome.
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Physical fitness predicts functional tasks in individuals with Down syndrome.
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Pneumonia and respiratory infections in Down syndrome: A scoping review of the literature.
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Postnatal diagnosis of Down syndrome: synthesis of the evidence on how best to deliver the news.
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Preferences for a non-invasive prenatal test as first-line screening for Down Syndrome: A discrete choice experiment.
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Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: a clinical report series.
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Prenatal course of isolated muscular ventricular septal defects diagnosed only by color Doppler sonography: single-institution experience.
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Prenatal diagnosis of Down syndrome: how best to deliver the news.
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Prenatal diagnosis of mosaic trisomy 13: a case report.
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Prevalence of iron deficiency in children with Down syndrome.
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Prototype formation in autism.
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Redox regulation of neuronal migration in a Down Syndrome model.
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Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin.
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Response to Zhang et al.
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Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study.
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Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up.
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Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.
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Sequestration of amyloid beta-peptide.
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Sleep problems and recall memory in children with Down syndrome and typically developing controls.
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Sleep problems and temperament in young children with Down syndrome and typically developing controls.
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Social stimulation and joint attention in young autistic children.
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Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
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Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio.
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Systematic Review: Emotion Dysregulation in Syndromic Causes of Intellectual and Developmental Disabilities.
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Systemic oxidative stress, as measured by urinary allantoin and F(2)-isoprostanes, is not increased in Down syndrome.
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T cell activation deficiency associated with an aberrant pattern of protein tyrosine phosphorylation after CD3 perturbation in Down's syndrome.
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The accuracy of photoscreening at detecting treatable ocular conditions in children with Down syndrome.
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The anterior iliac separation: alternative index for pelvic morphometry in fetuses with Down syndrome.
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The association of echogenic fetal lungs with trisomy 21.
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The brain's immune system.
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The effect of progressive resistance training on leg strength, aerobic capacity and functional tasks of daily living in persons with Down syndrome.
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The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome.
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The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis.
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The relationship between intracellular and plasma levels of folate and metabolites in the methionine cycle: a model.
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Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study.
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Transient myeloproliferative disease: keeping a high index of suspicion.
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Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.
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Unexplained regression in Down syndrome: Management of 51 patients in an international patient database.
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Use of remifentanil in infants.