about
Estimating the inbreeding depression on cognitive behavior: a population based study of child cohortDe novo mutations in moderate or severe intellectual disabilityLINS, a modulator of the WNT signaling pathway, is involved in human cognitionA circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbαMutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthIntellectual disability associated with a homozygous missense mutation in THOC6ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityAdaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingAdvances in understanding - genetic basis of intellectual disabilityA genetic model for neurodevelopmental diseaseThe molecular basis of cognitive deficits in pervasive developmental disorderseIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problemsEssential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal NeuronsThe XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neuronsExcess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeMETTL23, a transcriptional partner of GABPA, is essential for human cognition.Event-related potential alterations in fragile X syndrome.The Drosophila ortholog of the Zc3h14 RNA binding protein acts within neurons to pattern axon projection in the developing brain.X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.Targeted sequencing of the human X chromosome exome.Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly.Genomics, intellectual disability, and autismGenetic architectures of psychiatric disorders: the emerging picture and its implications.X chromosome regulation: diverse patterns in development, tissues and disease.Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.ST3GAL3 mutations impair the development of higher cognitive functions.The clinical significance of small copy number variants in neurodevelopmental disordersDisruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityThe mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.BOD1 Is Required for Cognitive Function in Humans and Drosophila.Mutations in HECW2 are associated with intellectual disability and epilepsyExome sequencing identifies three novel candidate genes implicated in intellectual disabilityMultilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
P2860
Q21090586-CFB5C77B-A4C9-472E-B5E2-636350D767C7Q21144861-6690BC5F-F566-4B9E-BAFC-D8390CDF27DAQ24295228-440D437E-20F5-40EA-970D-DAAFFD787981Q24336512-0368E32D-04AA-4E9F-887A-B7DC2D15DF00Q24338872-E5F93819-8AD9-4BE1-99A3-5918E7B9CFD8Q24339064-45DD41F8-E63A-4DF1-96DF-A6626108FF0FQ24339372-23A78850-B3BD-472D-9B6D-8B35C288B36FQ24615911-818F738D-8397-41E1-A1B5-37075A0B7BDFQ24632796-81B3ADAB-1B99-4B2E-BE91-0655CDBF8600Q26748977-66C0AD21-AB7B-4D46-9BB4-FB7194E3E27DQ26860566-5C4F7CB8-A064-488A-83B0-C8370B95C652Q26991872-6B85D71E-CF99-4ABD-BB05-C13AE6C9BA5CQ27937122-565FF4E0-6154-49D6-9353-6A1E76A4F98FQ28505479-97EFB606-40C7-4BF6-8B07-FE1B85EEA55BQ28510104-6F486206-2BBE-4399-BE08-F47F095CE60AQ28570665-E33872BB-D977-438F-BC58-02CFF77B19FBQ29144196-38CA7D66-EF93-478B-B541-0341C70F76B5Q29147448-C9A0BE66-82F7-47C1-AD00-094C0BDA0EB2Q30179391-89A0F31D-B2DC-4696-A9B2-9CFFD841D2E9Q30463379-049FA8AC-EC86-46E9-890A-6ABBD2D84930Q30676992-F843CB6B-BFAF-44A5-A8A1-60FB9295130FQ33587466-E46C46B4-2878-4632-B731-EE7506F7B752Q33620850-A9ACD1E8-C6B4-4CB6-9A06-5AB40EF09E1EQ33620872-7F45C8F6-6E82-4485-9DE5-95D3BBA3EEA3Q33733977-0FB754B1-DBE9-4FA1-B29F-F37C0985C918Q33883023-80601BAE-6650-40A4-95C0-CBBD873DF8DFQ33906205-A8D1FB24-3961-475B-A036-7D3005E01BBBQ33937230-97A036E9-8CBF-4B74-8EF1-3B453690E774Q33949729-8240E7A1-021D-4588-ADAE-A9D22734432BQ33982880-DE44CB8B-C65F-40E7-972F-AABD2E848D19Q34009396-C8C855AD-827F-494C-A33B-69A6C04B678EQ34215113-5C6ECBDA-CA78-426D-B1AB-1FFEF89FBA36Q34238113-F8689F08-C790-4FFA-97F8-49CBBCE997F8Q34283663-85332A62-BB04-4222-AEA9-05B3611C7310Q34352067-5A388B06-1AC8-4611-9245-A35118E49781Q34431288-0465AE30-FCA7-4303-BECF-121D8E4B13CDQ34526053-5486DC18-F191-431B-B40D-E4104A3BC165Q34531736-D5B4D8A4-AB8E-4362-97A8-F62F9758E1DDQ34535723-A10CAD56-7278-48AE-BBDE-3FF7ECD9CCC4Q34565537-E5459C5B-31B6-4D6D-A263-FB27EE7BA8B4
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
gotara zanistî
@ku-latn
scientific article published on January 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
name
Genetics of early onset cognitive impairment.
@en
Genetics of early onset cognitive impairment.
@nl
type
label
Genetics of early onset cognitive impairment.
@en
Genetics of early onset cognitive impairment.
@nl
prefLabel
Genetics of early onset cognitive impairment.
@en
Genetics of early onset cognitive impairment.
@nl
P1476
Genetics of early onset cognitive impairment.
@en
P2093
Hans Hilger Ropers
P304
P356
10.1146/ANNUREV-GENOM-082509-141640
P577
2010-01-01T00:00:00Z