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Environmental and state-level regulatory factors affect the incidence of autism and intellectual disabilityXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingHomozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsTruncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani familyEssential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal NeuronsIL1RAPL1 knockout mice show spine density decrease, learning deficiency, hyperactivity and reduced anxiety-like behavioursLinks between mRNA splicing, mRNA quality control, and intellectual disabilityX-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesA novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.Genetics and intelligence differences: five special findings.Thinking positively: The genetics of high intelligence.VaRank: a simple and powerful tool for ranking genetic variantsLong contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.Next-generation sequencing in X-linked intellectual disability.A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence.Examining non-syndromic autosomal recessive intellectual disability (NS-ARID) genes for an enriched association with intelligence differencesDiscontinuity in the genetic and environmental causes of the intellectual disability spectrumLoss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathyExome Sequencing and the Management of Neurometabolic Disorders.De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotoniaNew innovations: therapeutic opportunities for intellectual disabilities.Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior.Cognitive genomics: Searching for the genetic roots of neuropsychological functioning.Ocular manifestations in the X-linked intellectual disability syndromes.Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.Clinical psychologists' attitudes towards the biology and 'new genetics' of intellectual and developmental disabilities: a pilot study using Q-methodology.De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability.Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Genetic basis of intellectual disability.
@en
type
label
Genetic basis of intellectual disability.
@en
prefLabel
Genetic basis of intellectual disability.
@en
P2093
P1476
Genetic basis of intellectual disability.
@en
P2093
Jay W Ellison
Jill A Rosenfeld
Lisa G Shaffer
P304
P356
10.1146/ANNUREV-MED-042711-140053
P577
2012-09-27T00:00:00Z