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  1. 12021
    “…It can be challenging to predict clinical features from genetic data, as loss of function mutations in some genes can present with a spectrum of phenotypes ranging from craniofacial abnormalities, intellectual disability, and neurosensory and neuroendocrine defects to pituitary hormone deficiency with no other abnormalities. …”
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    SAT-288 Pituitary Developmental Defects Caused by Haploinsufficiency for the Transcription Factor SIX3 Are Worsened by POU1F1 Deficiency
  2. 12022
    “…41-year-old male with history of anxiety, bipolar disorder, depression, cognitive developmental delay, Idiopathic Thrombocytopenic Purpura (ITP), Vit D deficiency, tinnitus, suicidal attempt, auditory hallucination, borderline intellectual functioning comes to the PCP’s office for regular follow-up. …”
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    MON-LB63 Hypocalcemia-A Clue to Digeorge Syndrome; A Very Rare Case Diagnosed in a 41 Year Male
  3. 12023
    “…Introduction: Prader-Willi syndrome (PWS) is a complex hypothalamic disorder, combining hypotonia, intellectual disability (ID), pituitary hormone deficiencies and hyperphagia. …”
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    MON-284 Systematic Screening Reveals Large Number of Undiagnosed and Untreated Cardiovascular Risk Factors in Adults with Prader-Willi Syndrome
  4. 12024
    “…BACKGROUND: Cannabis use in adolescence is a known risk factor for developing schizophrenia. Decline in intellectual functioning is a well-studied phenomenon of schizophrenia. …”
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    O9.6. SYSTEMATIC REVIEW AND META-ANALYSIS OF THE EFFECTS OF CANNABIS USE IN ADOLESCENCE ON IQ IN LONGITUDINAL STUDIES ACCOUNTING PRE-EXPOSURE BASELINE PERFORMANCE
  5. 12025
    “…CASE PRESENTATION: We describe a 10-year-old girl with a non-specific neurodevelopmental disorder characterized by moderate intellectual disability (ID), gross motor clumsiness, social and communication deficits. …”
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    Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
  6. 12026
    “…EXPOSURES: Developmental disability, including attention-deficit/hyperactivity disorder, autism spectrum disorder, cerebral palsy, seizure, intellectual and/or learning disability, and vision, hearing, and/or speech delay. …”
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    Estimated Prevalence of Asthma in US Children With Developmental Disabilities
  7. 12027
    “…BACKGROUND: Fragile X syndrome (FXS), a neurodevelopmental disorder, is a leading monogenetic cause of intellectual disability and autism spectrum disorder. …”
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    Cortical neurons derived from human pluripotent stem cells lacking FMRP display altered spontaneous firing patterns
  8. 12028
    “…Finally, we apply our expression filter to the analysis of de novo variants in patients with autism spectrum disorder and intellectual disability or developmental disorders to show that pLoF variants in weakly expressed regions have similar effect sizes to those of synonymous variants, whereas pLoF variants in highly expressed exons are most strongly enriched among cases. …”
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    Transcript expression-aware annotation improves rare variant interpretation
  9. 12029
    “…Among the 12 transplanted patients, five, including one with mild intellectual disability, survived; while seven who had remarkable neurological symptoms before LT died. …”
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    Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation
  10. 12030
    “…Disruptions to this synaptogenic process impair connectivity optimization and can cause neurodevelopmental disorders. Intellectual disability (ID) and autism spectrum disorder (ASD) are often characterized by synaptic overgrowth, with the maintenance of immature or inappropriate synapses. …”
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    Genetic background mutations drive neural circuit hyperconnectivity in a fragile X syndrome model
  11. 12031
    “…ELBW children had lower full‐scale intellectual quotient than controls (t‐test, 90 vs 112, P < .001), elevated teacher‐ reported inattention scores (median = 4.0 vs 1.0, P = .021, r = .20) and needed more educational support (47% vs 17%, OR 4.5, 95% CI 1.6‐12.4, P = .02). …”
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    Analysis of neurodevelopmental outcomes of preadolescents born with extremely low weight revealed impairments in multiple developmental domains despite absence of cognitive impairment
  12. 12032
    “…Hypothermia is the only approved therapy for the clinical treatment; however, the therapeutic window of hypothermia is confined to 6 h after birth and even then, >40% of the infants either die or survive with various impairments, including cerebral palsy, seizure disorder and intellectual disability following hypothermic treatment. …”
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    Intranasal administration of Cytoglobin modifies human umbilical cord-derived mesenchymal stem cells and improves hypoxic-ischemia brain damage in neonatal rats by modulating p38 MAPK signaling-mediated apoptosis
  13. 12033
    “…In 2019, we began the intellectual process of identifying the most relevant supplementary data available from the wide range of existing national registries available in Denmark. …”
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    Long-Term Opioid Therapy in Spine Center Outpatients: Protocol for the Spinal Pain Opioid Cohort (SPOC) Study
  14. 12034
    “…BACKGROUND: Rett syndrome (RTT), an X-linked neurodevelopmental rare disease mainly caused by MECP2-gene mutations, is a prototypic intellectual disability disorder. Reversibility of RTT-like phenotypes in an adult mouse model lacking the Mecp2-gene has given hope of treating the disease at any age. …”
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    Protective role of mirtazapine in adult female Mecp2(+/−) mice and patients with Rett syndrome
  15. 12035
    “…The child underwent numerous otolaryngology procedures and will require significant ongoing care. She has moderate intellectual disability. DISCUSSION AND CONCLUSIONS: Key challenges in the management of this case included the subtle changes on initial skeletal survey and the marked asymmetry of her deformity. …”
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    Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report
  16. 12036
    por Wang, Xiaoxia, Zhou, Xiaoyan, Yang, Hui
    Publicado 2020
    “…Exclusion criteria will be individuals who are at significant risk of harming themselves or others, who have a primary mental health disorder other than depression, or who have an intellectual disability that would hamper their ability to participate in the intervention. …”
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    Guided Self-Help Behavioral Activation Intervention for Geriatric Depression: Protocol for Pilot Randomized Controlled Trial
  17. 12037
    “…Inclusion criteria regarding the cognitive ability [intelligence quotient (IQ) > 60] limited the ability to include individuals with substantial intellectual disability. CONCLUSIONS: Differences in attention to faces could constitute a feature discriminative between individuals with and without ASD across the lifespan, whereas between-group differences in looking at activities may shift with development. …”
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    Social attention to activities in children and adults with autism spectrum disorder: effects of context and age
  18. 12038
    “…Since FXS is a common and prototypical genetic disorder associated with intellectual disability (ID) and autism spectrum disorder (ASD), a comprehensive assessment of the FMR1 DNA-RNA-protein pathway and its correlations with the neurobehavioral phenotype is a priority. …”
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    A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
  19. 12039
    “…In addition, children with developmental delay, intellectual disabilities, late detected genetic disorders or autism spectrum disorder show abnormal general movements (GMs) during infancy. …”
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    Enhancing early detection of neurological and developmental disorders and provision of intervention in low-resource settings in Uttar Pradesh, India: study protocol of the G.A.N.E.S.H. programme
  20. 12040
    “…BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one of the most common phenotypes in neurogenetic diseases. …”
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    Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes
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