Materias dentro de su búsqueda.
Mostrando 10,641 - 10,660 Resultados de 12,673 Para Buscar '"intellectual"', tiempo de consulta: 0.35s Limitar resultados
  1. 10641
    “…To the best of our knowledge, duplication of chromosome 3p26.3, including only the CHL1 gene, has been described in only one intellectually disabled girl with epilepsy. The duplication described here is the smallest reported so far. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes
  2. 10642
    “…Most participants (74 %) stated that they would consider termination of the pregnancy if the fetus was diagnosed with an intellectual deficit. CONCLUSIONS: These results cast doubt on whether AMA women’s decision to undergo amniocentesis is based on risk estimates, as women seem to disregard risk estimates, and sometimes not even wait for them when making the decision. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The limited effect of information on Israeli pregnant women at advanced maternal age who decide to undergo amniocentesis
  3. 10643
    “…Diagnosis of ASD in individuals with PMS is complicated by the presence of moderate to profound global developmental delay/intellectual disability as well as other co-morbid systemic and neurological symptoms. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations
  4. 10644
    “…Thus, enhanced cholinergic responses are the likely cause of the severe NFLE and intellectual disability segregating in this family, representing the first recessive case to be reported and the first PRIMA1 mutation implicated in disease.…”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
  5. 10645
    “…The Wechsler Adult Intelligence Scale-III (WAIS-III, simplified version) was used to diagnose intellectual/ cognitive disability. RESULTS: Among all participants, 42.1% (95% CI 33.4–51.3%) were diagnosed with a mental illness: 4.4% (95% CI 1.9–9.9%) with schizophrenia or other psychotic disorder, 17.5% (95% CI 11.6–25.6%) with a mood disorder, 2.6% (95% CI 0.9–7.5%) with an anxiety disorder, 14.0% (95% CI 8.8–21.6%) with a substance-related disorder, and 3.5% (95% CI 1.4–8.8%) with a personality disorder. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Prevalence of Mental Illness, Cognitive Disability, and Their Overlap among the Homeless in Nagoya, Japan
  6. 10646
    “…However, researchers in this region listed clear specifications for establishing and using such a biorepository: specifications related to standardized procedures, funding, and protections of human subjects and intellectual property. The results help guide strategies to increase data sharing behaviors and to increase participation of researchers with multiethnic biospecimen collections in collaborative research endeavors CONCLUSIONS: Data sharing by researchers is essential to leveraging knowledge and resources needed for the advancement of research on cancer health disparities. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    To Share or Not to Share? A Survey of Biomedical Researchers in the U.S. Southwest, an Ethnically Diverse Region
  7. 10647
    “…Executives and higher intellectual professions, intermediate professions, technicians, foremen and employees were significantly more likely to be treated by MAD than workers (aOR: 2.21, 95% CI 1.88 to 2.58; aOR: 1.74, 95% CI 1.15 to 2.63; aOR: 1.96, 95% CI 1.11 to 3.47, respectively). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Socio-Economic Status: A Barrier to Access to Mandibular Advancement Device Therapy for Patients with Obstructive Sleep Apnea Syndrome in France
  8. 10648
    “…BACKGROUND: Trisomy 21 causes Down syndrome (DS), but the mechanisms by which the extra chromosome leads to deficient intellectual and immune function are not well understood. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models
  9. 10649
    “…When calculated for each cognitive level category, the average SCQ score tended to be progressively higher in patients with a worse cognitive level, and the number of pathological SCQ scores increased with worsening of intellectual disability. With respect to ASD severity, the scores were equally distributed, indicating that the degree of ASD in TSC patients may have a large variability. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers
  10. 10650
    “…BACKGROUND: Array-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients
  11. 10651
    “…The purposes of this study were 1) to investigate similarities and differences between the CCEs in their definitions of competence, domains of educational competencies, components of the domains of competencies, as represented by assessment and diagnosis, ethics, intellectual development, and 2) to make recommendations, if significant deficiencies were found. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Similarities and differences of graduate entry-level competencies of chiropractic councils on education: a systematic review
  12. 10652
    “…Christianson syndrome (CS) is an X-linked neurodevelopmental and neurological disorder characterized in males by core symptoms that include non-verbal status, intellectual disability, epilepsy, truncal ataxia, postnatal microcephaly and hyperkinesis. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities
  13. 10653
    “…Special attention has been paid on how to adapt the consenting process to persons with intellectual disabilities. The methodological considerations discussed in this paper may contribute to the development of good practices for conducting quantitative health surveys on people with disabilities. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    HandiVIH—A population-based survey to understand the vulnerability of people with disabilities to HIV and other sexual and reproductive health problems in Cameroon: protocol and methodological considerations
  14. 10654
    “…The objective of this paper is to evaluate associations between CNVs in differentially brain expressed (DBE) genes or genes previously implicated in ASD/intellectual disability (ASD/ID) and specific sub-phenotypes of ASD. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    The phenotypic manifestations of rare genic CNVs in autism spectrum disorder
  15. 10655
    “…BACKGROUND: Fragile X syndrome (FXS) is a single-gene disorder that is the most common heritable cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorders (ASD). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Synaptic vesicle dynamic changes in a model of fragile X
  16. 10656
    “…Down syndrome (DS) is caused by the presence of an extra copy of the chromosome 21 and it is the most common aneuploidy producing intellectual disability. Neural mechanisms underlying this alteration may include defects in the formation of neuronal networks, information processing and brain plasticity. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Hypocellularity in the Murine Model for Down Syndrome Ts65Dn Is Not Affected by Adult Neurogenesis
  17. 10657
    “…METHODS: We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who have deletions or de novo point mutations disrupting SOX11. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
  18. 10658
    “…BACKGROUND: Intellectual disability (ID), autism, and epilepsy share frequent yet variable comorbidities with one another. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression
  19. 10659
    “…All five patients exhibited highly concordant disease progression characterized by infantile onset leukoencephalopathy with brain white matter abnormalities, severe motor impairment, cortical blindness, intellectual disability, and seizures. The carrier frequency of the VPS11: c.2536T>G variant is 1:250 in the AJ population (n = 2,026). …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
  20. 10660
    “…BACKGROUND: X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. …”
    Enlace del recurso
    Enlace del recurso
    Enlace del recurso
    Online Artículo Texto
    HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Herramientas de búsqueda: RSS