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  1. 11441
    “…Importantly, three of these genes were validated as ‘diagnostic’ genes given the strong evidence supporting causality derived from our data repository (CAP2-dilated cardiomyopathy, ITFG2-intellectual disability and USP53-liver cholestasis). …”
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    Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility
  2. 11442
    “…The boy-girl twins showed intellectual disability, speech absence, facial dysmorphism, cyanosis, large fleshy hands and feet, dysplastic fingernails and abnormal behaviors, and third-generation sequencing showed an identical de novo interstitial deletion of 6.0 Mb in the 22q13.31-q13.33 region. …”
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    Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review
  3. 11443
    “…Mutations in the ACO2 gene were identified in patients suffering from a broad range of symptoms, including optic nerve atrophy, cortical atrophy, cerebellar atrophy, hypotonia, seizures and intellectual disabilities. In the present study, we identified a heterozygous 51 bp deletion (c.1699_1749del51) in ACO2 in a family with autosomal dominant inherited isolated optic atrophy. …”
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    Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy
  4. 11444
    “…BACKGROUND: Mutations in TSC2 are the most common cause of tuberous sclerosis (TSC), a disorder with a high incidence of autism and intellectual disability. TSC2 regulates mRNA translation required for group 1 metabotropic glutamate receptor-dependent synaptic long-term depression (mGluR-LTD) and behavior, but the identity of mRNAs responsive to mGluR-LTD signaling is largely unknown. …”
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    Ribosome profiling in mouse hippocampus: plasticity-induced regulation and bidirectional control by TSC2 and FMRP
  5. 11445
    “…Interventions addressed intellectual impairment (6), visual impairment (6), hearing impairment (4), mental health conditions (2) and physical impairments (2). …”
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    From words to actions: systematic review of interventions to promote sexual and reproductive health of persons with disabilities in low- and middle-income countries
  6. 11446
    “…The altered lobular volume ratios showed negative correlations with hyperphagic and autistic characteristics and positive correlations with obsessive and intellectual characteristics. This study provides the first objective evidence of topographic patterns of volume differences in cerebellar structures consistent with clinical behavioral characteristics in individuals with PWS and strongly suggests a cerebellar contribution to altered functional brain connectivity in PWS. …”
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    Cerebellar Volumes Associate with Behavioral Phenotypes in Prader-Willi Syndrome
  7. 11447
    “…Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with a high risk of early-onset epilepsy and a high prevalence of neurodevelopmental comorbidities, including intellectual disability and autism spectrum disorder (ASD). …”
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    Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics
  8. 11448
    “…Individuals who choose ID are attracted by the intellectual stimulation of the specialty but express concerns about the working conditions and salaries. …”
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    How and why do French medical students choose the specialty of infectious and tropical diseases? A national cross-sectional study
  9. 11449
    “…Functional annotation revealed that these genes play a role in neuronal plasticity and synaptic function, and have been implicated in neurodevelopmental phenotypes, for example, intellectual disability, autism, and schizophrenia. None of these associations survived a more stringent correction for multiple testing across all analysis sets. …”
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    Mapping gene by early life stress interactions on child subcortical brain structures: A genome‐wide prospective study
  10. 11450
    “…In the present clinical study, we investigated the impact of CoVID-19-related lockdown on psychosocial, cognitive and functional well-being in a sample population of 46 adults with DS. The interRAI Intellectual Disability standardized assessment instrument, which includes measures of social withdrawal, functional impairment, aggressive behavior and depressive symptoms, was used to perform a three time-point evaluation (two pre-lockdown and one post-lockdown) in 37 subjects of the study sample, and a two time point evaluation (one pre- and one post-lockdown) in 9 subjects. …”
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    Impact of COVID-19-Related Lockdown on Psychosocial, Cognitive, and Functional Well-Being in Adults With Down Syndrome
  11. 11451
    “…The cytoplasmic fragile X mental retardation 1 (FMR1)-interacting protein 2 (CYFIP2) gene is associated with epilepsy, intellectual disability (ID), and developmental delay, suggesting its critical role in proper neuronal development and function. …”
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    Enhanced Prefrontal Neuronal Activity and Social Dominance Behavior in Postnatal Forebrain Excitatory Neuron-Specific Cyfip2 Knock-Out Mice
  12. 11452
    “…In a patient with cutis laxa, a choreoathetoid movement disorder, dysmorphic features and intellectual disability we performed exome sequencing to elucidate the underlying genetic defect. …”
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    Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa
  13. 11453
    “…Here, whole-exome sequencing identifies a novel germline DNMT3A variant (p.Gly332Arg) in a patient with bilateral carotid paragangliomas, papillary thyroid carcinoma and idiopathic intellectual disability. The variant, located in the Pro-Trp-Trp-Pro (PWWP) domain of the protein involved in chromatin targeting, affects a residue mutated in papillary thyroid tumors and located between the two residues found mutated in microcephalic dwarfism patients. …”
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    Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma
  14. 11454
    “…Efforts to combine clinical and public health ethics whilst resolving medical dilemmas can reasonably be expected to call upon the physician’s professional identity because they are intellectual challenges to be associated with case management.…”
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    In defence of a single body of clinical and public health, medical ethics
  15. 11455
    “…Integrin subunits have been implicated in dendritic development, and the subunit with the strongest associations with autism spectrum disorder and intellectual disability is integrin β3 (Itgb3). In mice, global knockout of Itgb3 leads to autistic-like neuroanatomy and behavior. …”
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    Integrin β3 organizes dendritic complexity of cerebral cortical pyramidal neurons along a tangential gradient
  16. 11456
    “…Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. …”
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    Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay
  17. 11457
    “…There were no significant differences in gene-set or pathway variant burden between the Dup7-ASD and Dup7-non-ASD groups. However, overall intellectual ability negatively correlated with the number of rare loss-of-function variants present in nervous system development and membrane component pathways, and adaptive behaviour standard scores negatively correlated with the number of low-frequency likely-damaging missense variants found in genes expressed in the prenatal human brain. …”
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    Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
  18. 11458
    “…Currently, FC is very rarely and unofficially used with people suffering from verbal/communicative disorders or neurodevelopmental disorders such as intellectual deficiency or autism spectrum disorder (ASD). …”
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    Evidence of Authorship on Messages in Facilitated Communication: A Case Report Using Accelerometry
  19. 11459
    “…Common ethical considerations reported in relation to the principles were: autonomy – promoting desired level of involvement, addressing relational and intellectual power, facilitating knowledge and understanding of research; non-maleficence – protection from financial burden, physical and emotional suffering; beneficence – putting things right for others, showing value-added, and supporting patient-partners; and, justice – achieving appropriate representation, mutual respect for contributions, and distributing risks and benefits. …”
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    Ethical considerations for engaging frail and seriously ill patients as partners in research: sub-analysis of a systematic review
  20. 11460
    “…Clinical yield was significantly enriched in females and in those with broadly defined learning/intellectual disabilities. Genome analyses also identified variants with potential clinical implications, including TREs (one in DMPK; two in ATXN8OS) and ultra-rare loss-of-function SNVs in ZMYM2 (a novel candidate gene for schizophrenia). …”
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    Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia
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