“…Efficient statistical evaluation of phenotyping data requires standardised data storage ensuring long-term data availability while maintaining intellectual property rights. This is state of the art at phenomics centres, which, however, are unavailable for most scientists. …”
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“…Recently, emerging evidence has indicated that NMD factors are associated with neurodevelopmental disorders such as autism spectrum disorder (ASD) and intellectual disability (ID). However, the mechanism in which these factors control embryonic brain development is not clear. …”
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“…BACKGROUND: Trisomy 21 Down syndrome is the most common genetic cause for congenital malformations and intellectual disability. It is well known that in the outstanding majority of cases the extra chromosome 21 originates from the mother but only in less than 10 % from the father. …”
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“…ORs for risk estimates were: all-cause disabling chronic conditions 1.72 (95% CI 1.48 to 2.01); psychological disorders 1.88 (95% CI 1.68 to 2.10); intellectual disability 2.41 (95% CI 2.03 to 2.86); activity-limiting asthma 2.20 (95% CI 1.87 to 2.85); cerebral palsy 1.42 (95% CI 1.26 to 1.61); congenital abnormalities 1.41 (95% CI 1.24 to 1.61); epilepsy 1.38 (95% CI 1.20 to 1.59); sensory impairment 1.70 (95% CI 1.39 to 2.07). …”
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“…However, after phenotype-based stratification, the CLEC7A rs2078178 G allele and GG genotype were found to be significantly more frequent in the Asperger group as compared to other ASD subsets (pc = 0.02, 0.01), a finding reinforced by haplotype analysis (rs2078178/rs16910631 G-G/G-G) (pc = 0.002). Further, intellectual quotient (IQ)-based stratification of ASD patients revealed that IQ values increase linearly along the CLEC7A rs2078178 AA, AG and GG genotypes (p = 0.05) and in a recessive manner (GG vs. …”
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“…This study aims to address this by comparing two such freely available sources, SureChEMBL and IBM SIIP (IBM Strategic Intellectual Property Insight Platform), with manually curated commercial databases. …”
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“…INTRODUCTION: Autism is diagnosed in numerous genetic and genomic developmental disorders associated with an overlap in high-risk genes and loci that underlie intellectual disability (ID) and epilepsy. The aim of this stereological study of neuronal soma volume in 25 brain structures and their subdivisions in eight individuals 9 to 26 years of age who were diagnosed with chromosome 15q11.2-13.1 duplication syndrome [dup(15)], autism, ID and epilepsy; eight age-matched subjects diagnosed with autism of unknown etiology (idiopathic autism) and seven control individuals was to establish whether defects of neuronal soma growth are a common denominator of developmental pathology in idiopathic and syndromic autism and how genetic modifications alter the trajectory of neuronal soma growth in dup(15) autism. …”
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“…Physiological significance of RBFOX1 during brain development is seemingly essential since abnormalities in the gene cause autism spectrum disorder (ASD) and other neurodevelopmental and neuropsychiatric disorders such as intellectual disability, epilepsy, attention deficit hyperactivity disorder, and schizophrenia. …”
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“…We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits. …”
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“…The SHANK3 gene encoding core scaffolding proteins at glutamatergic postsynapse is a typical dosage-sensitive gene, both deletions and duplications of which are associated with Phelan-McDermid syndrome, autism spectrum disorders, bipolar disorder, intellectual disability, or schizophrenia. However, the regulatory mechanism of SHANK3 expression in neurons itself is poorly understood. …”
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“…This review included any kind of study design that described or evaluated service user, family or caregiver (though not community) involvement in LMICs (including service users with intellectual disabilities, dementia, or child and adolescent mental health problems) and that were relevant to mental health system strengthening across five categories. …”
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“…CDDS provided aggregate data on primarily non-medical spending for fiscal year 2012–2013 for persons with ASD with or without intellectual disability (ID) (main sample, n = 42,274), and two sub-samples: ASD only (n = 30,164), and ASD+ID (n = 12,110). …”
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“…Correlations between milk intake frequency and each item of the personality test were only detected in boys, and milk intake frequency showed positive correlations with "total agreeability", "organization", "responsibility", "conscientiousness", and "intellectual curiosity" (P < 0.05). CONCLUSION: Intakes of milk and milk products were correlated with academic performance (Korean, social science, and mathematics) in Korean adolescents. …”
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“…MEASUREMENTS: A neurocognitive battery of 20 tests assessing intellectual function, learning, short- and long-term memory, verbal fluency, attention, mental flexibility, and processing speed was performed prior to and 2–4.1 years (mean, 3.7) after cochlear implant (CI). …”
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“…CONCLUSIONS: Our results suggest that high peripheral BDNF may be negatively correlated with intelligence, behavioral problems and clinical symptoms of neuro-developmental disorders such as intellectual disability in preschool children. A high peripheral BDNF concentration may, if these findings are further replicated, prove to be a useful biomarker for such issues in preschool children.…”
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“…BACKGROUND: Undernutrition continues to pose challenges to Uganda's children, but there is limited knowledge on its association with physical and intellectual development. OBJECTIVE: In this cross-sectional study, we assessed the nutritional status and milestone development of 6- to 8-month-old children and associated factors in two districts of southwestern Uganda. …”
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“…Fragile X is the most common monogenic disorder associated with intellectual disability (ID) and autism spectrum disorders (ASD). …”
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“…Axial hypotonia, impaired upward saccades, and intellectual disability were variable features. The p.R418G and p.R418Q mutation patients had a milder phenotype. …”
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“…Accompanying clinical features included early onset ataxia in most patients and cognitive impairment with learning disability (n = 6) or intellectual disability (n = 4). Re-evaluation of MRI data sets revealed a hitherto unrecognized molar tooth sign diagnostic for Joubert syndrome in 11 patients, neuroimaging features of Poretti-Boltshauser syndrome in one case and cerebral malformation suspicious of a tubulinopathy in another subject. …”
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“…We expanded our study beyond the aforementioned data linkage through a systematic search of the World Intellectual Property Organization’s PatentScope, which was based primarily upon the drugs’ active ingredient names. …”
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