Down syndrome phenotype
Evidence from:
primary |
all sources
Related entities (10)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| APP | expressed_in | Down syndrome | — | 1 |
| autism | associated_with | Down syndrome | — | 1 |
| Down syndrome | associated_with | Alzheimer’s disease | — | 1 |
| Down syndrome | associated_with | behavioral deficits | — | 1 |
| Down syndrome | associated_with | body weight | — | 1 |
| Down syndrome | associated_with | cognition | — | 1 |
| Down syndrome | associated_with | synaptic plasticity | — | 1 |
| Down syndrome | associated_with | working memory | — | 1 |
| Dyrk1A | associated_with | Down syndrome | — | 1 |
| Kcnj6 | associated_with | Down syndrome | — | 1 |
Mentioned in (100)
Papers in which this entity is mentioned.
- Control of precision grip in children with heavy prenatal alcohol exposure. (2025)
- Regional hippocampal thinning and gyrification abnormalities and associated cognition in children with prenatal alcohol exposure. (2025)
- A global multicohort study to map subcortical brain development and cognition in infancy and early childhood. (2024)
- Human 3D brain organoids: steering the demolecularization of brain and neurological diseases. (2023)
- Delayed cortical thinning in children and adolescents with prenatal alcohol exposure. (2023)
- Towards understandings of serine/arginine-rich splicing factors. (2023)
- Prenatal alcohol exposure and cognition at midlife: Evidence of fluid cognition deficits in two cohorts. (2023)
- Genetic variants associated with longitudinal changes in brain structure across the lifespan. (2022)
- Neurodevelopmental Trajectories Following Prenatal Alcohol Exposure. (2021)
- Association of maternal antiretroviral use with microcephaly in children who are HIV-exposed but uninfected (SMARTT): a prospective cohort study. (2020)
- Systematic evaluation of differential splicing tools for RNA-seq studies. (2020)
- Choline, Neurological Development and Brain Function: A Systematic Review Focusing on the First 1000 Days. (2020)
- Neurodevelopment in adolescents and adults with fetal alcohol spectrum disorders (FASD): A magnetic resonance region of interest analysis. (2020)
- Murine Models for the Study of Fetal Alcohol Spectrum Disorders: An Overview. (2020)
- Four-year follow-up of a randomized controlled trial of choline for neurodevelopment in fetal alcohol spectrum disorder. (2020)
- "I'm Doing My Part, I Just Need Help From the Community": Intervention Implications of Foster and Adoptive Parents' Experiences Raising Children and Young Adults With FASD. (2019)
- Prenatal Stress and Maternal Immune Dysregulation in Autism Spectrum Disorders: Potential Points for Intervention. (2019)
- Cannabis Teratology Explains Current Patterns of Coloradan Congenital Defects: The Contribution of Increased Cannabinoid Exposure to Rising Teratological Trends. (2019)
- Hippocampal deficits in neurodevelopmental disorders. (2019)
- Twin study confirms virtually identical prenatal alcohol exposures can lead to markedly different fetal alcohol spectrum disorder outcomes-fetal genetics influences fetal vulnerability. (2018)
- Elevated polygenic burden for autism is associated with differential DNA methylation at birth. (2018)
- Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome. (2018)
- Patterns and mechanisms of structural variations in human cancer. (2018)
- Neonatal Cytokine Profiles Associated With Autism Spectrum Disorder. (2017)
- Functional Connectivity of the Infant Human Brain: Plastic and Modifiable. (2017)
- An ERP Study of Response Inhibition in the Auditory Domain in Children with Fetal Alcohol Spectrum Disorders. (2017)
- Evidence that increased Kcnj6 gene dose is necessary for deficits in behavior and dentate gyrus synaptic plasticity in the Ts65Dn mouse model of Down syndrome. (2017)
- Preaxial polydactyly following early gestational exposure to the smoothened agonist, SAG, in C57BL/6J mice. (2017)
- Males are from Mars, and females are from Venus: sex-specific fetal brain gene expression signatures in a mouse model of maternal diet-induced obesity. (2016)
- New insights into the generation and role of de novo mutations in health and disease. (2016)
- Fetal alcohol spectrum disorders: Clinical phenotype among a high-risk group of children and adolescents in Korea. (2016)
- Abnormal Eating Behaviors Are Common in Children with Fetal Alcohol Spectrum Disorder. (2016)
- Chronic up-regulation of sonic hedgehog has little effect on postnatal craniofacial morphology of euploid and trisomic mice. (2016)
- Verbal learning and memory impairment in children with fetal alcohol spectrum disorders. (2015)
- Fetal Alcohol Spectrum Disorders: An Overview from the Glia Perspective. (2015)
- Executive functioning deficits in preschool children with Fetal Alcohol Spectrum Disorders. (2015)
- What Happens When Children with Fetal Alcohol Spectrum Disorders Become Adults? (2015)
- Sex-related differences in auditory processing in adolescents with fetal alcohol spectrum disorder: A magnetoencephalographic study. (2015)
- ERBB4 polymorphism and family history of psychiatric disorders on age-related cortical changes in healthy children. (2015)
- Prenatal Alcohol Exposure and Congenital Heart Defects: A Meta-Analysis. (2015)
- Acute upregulation of hedgehog signaling in mice causes differential effects on cranial morphology. (2015)
- Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges. (2013)
- Prevalence of amblyopia or strabismus in asian and non-Hispanic white preschool children: multi-ethnic pediatric eye disease study. (2013)
- Inadequate intake of nutrients essential for neurodevelopment in children with fetal alcohol spectrum disorders (FASD). (2013)
- Size does not always matter: Ts65Dn Down syndrome mice show cerebellum-dependent motor learning deficits that cannot be rescued by postnatal SAG treatment. (2013)
- Hedgehog agonist therapy corrects structural and cognitive deficits in a Down syndrome mouse model. (2013)
- Impaired odor identification in children with histories of heavy prenatal alcohol exposure. (2013)
- Bridging animal and human models of exercise-induced brain plasticity. (2013)
- Commonality in Down and fetal alcohol syndromes. (2013)
- Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model. (2013)
- Neuroprotective actions of perinatal choline nutrition. (2013)
- An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. (2012)
- Delays in auditory processing identified in preschool children with FASD. (2012)
- Infections and immunodeficiency in Down syndrome. (2011)
- The quest for a neurobehavioral profile of heavy prenatal alcohol exposure. (2011)
- Trisomic and allelic differences influence phenotypic variability during development of Down syndrome mice. (2011)
- Mapping infant brain myelination with magnetic resonance imaging. (2011)
- What choline metabolism can tell us about the underlying mechanisms of fetal alcohol spectrum disorders. (2011)
- Fetal alcohol spectrum disorders and abnormal neuronal plasticity. (2011)
- The role of DYRK1A in neurodegenerative diseases. (2011)
- Down syndrome: searching for the genetic culprits. (2011)
- Inter-hemispheric functional connectivity disruption in children with prenatal alcohol exposure. (2011)
- The regulator of calcineurin 1 (RCAN1/DSCR1) activates the cAMP response element-binding protein (CREB) pathway. (2011)
- Basal forebrain involvement in low-functioning autistic children: a voxel-based morphometry study. (2011)
- S100B and APP promote a gliocentric shift and impaired neurogenesis in Down syndrome neural progenitors. (2011)
- Molecular characterization of the translocation breakpoints in the Down syndrome mouse model Ts65Dn. (2011)
- The effects of maternal binge drinking during pregnancy on neural correlates of response inhibition and memory in childhood. (2011)
- Early pharmacotherapy restores neurogenesis and cognitive performance in the Ts65Dn mouse model for Down syndrome. (2010)
- Transgenic mouse models of Alzheimer's disease. (2010)
- Prenatal alcohol exposure alters biobehavioral reactivity to pain in newborns. (2010)
- DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing. (2010)
- Dyrk1A overexpression inhibits proliferation and induces premature neuronal differentiation of neural progenitor cells. (2010)
- The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. (2010)
- Population differences in dysmorphic features among children with fetal alcohol spectrum disorders. (2010)
- Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome. (2010)
- Widespread impairment of cell proliferation in the neonate Ts65Dn mouse, a model for Down syndrome. (2009)
- The epigenetics of sex differences in the brain. (2009)
- Down syndrome--recent progress and future prospects. (2009)
- A comprehensive volumetric analysis of the cerebellum in children and adolescents with autism spectrum disorder. (2009)
- A neural crest deficit in Down syndrome mice is associated with deficient mitotic response to Sonic hedgehog. (2009)
- Cerebellar vermal volumes and behavioral correlates in children with autism spectrum disorder. (2009)
- Phenotype of apoptotic lymphocytes in children with Down syndrome. (2009)
- Prenatal NAP+SAL prevents developmental delay in a mouse model of Down syndrome through effects on N-methyl-D-aspartic acid and gamma-aminobutyric acid receptors. (2009)
- Negative feedback Inhibition of NFATc1 by DYRK1A regulates bone homeostasis. (2009)
- Otitis media in a mouse model for Down syndrome. (2009)
- Neurogenesis impairment and increased cell death reduce total neuron number in the hippocampal region of fetuses with Down syndrome. (2008)
- Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. (2008)
- The power of comparative and developmental studies for mouse models of Down syndrome. (2007)
- Genetic and environmental factors in complex neurodevelopmental disorders. (2007)
- Defects in embryonic neurogenesis and initial synapse formation in the forebrain of the Ts65Dn mouse model of Down syndrome. (2007)
- Defective cerebellar response to mitogenic Hedgehog signaling in Down [corrected] syndrome mice. (2006)
- Multiple roles of the DSCR1 (Adapt78 or RCAN1) gene and its protein product calcipressin 1 (or RCAN1) in disease. (2005)
- Abnormal cortical complexity and thickness profiles mapped in Williams syndrome. (2005)
- Effects of prenatal alcohol exposure on child development. (2002)
- Growth charts for Down's syndrome from birth to 18 years of age. (2002)
- Estimating the prevalence of fetal alcohol syndrome. A summary. (2001)
- Role of founder cell deficit and delayed neuronogenesis in microencephaly of the trisomy 16 mouse. (2000)
- Effect of enriched environment rearing on impairments in cortical excitability and plasticity after prenatal alcohol exposure. (1999)
- Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. (1995)
- A Long-Term Perspective of FAS. (1994)
Merged raw entities (3)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| down syndrome | phenotype | 95 | 464 |
| down’s syndrome | phenotype | 3 | 3 |
| ds | phenotype | 3 | 4 |