about
Systematic review of cognitive development across childhood in Down syndrome: implications for treatment interventionsLINS, a modulator of the WNT signaling pathway, is involved in human cognitionAdvances in understanding - genetic basis of intellectual disabilityThe long and the short of it: the role of the zinc finger polyadenosine RNA binding protein, Nab2, in control of poly(A) tail lengthFragile X and X-linked intellectual disability: four decades of discoveryDosage compensation of the sex chromosomesMutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humansA truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyCopy-number gains of HUWE1 due to replication- and recombination-based rearrangementsUnraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.Prioritizing the development of mouse models for childhood brain disordersMEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders.Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome.Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.Genomics, intellectual disability, and autismIdentification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.Forebrain deletion of αGDI in adult mice worsens the pre-synaptic deficit at cortico-lateral amygdala synaptic connections.ST3GAL3 mutations impair the development of higher cognitive functions.Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders.BOD1 Is Required for Cognitive Function in Humans and Drosophila.A quantitative framework to evaluate modeling of cortical development by neural stem cells.Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.Genes that escape from X inactivation.Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.p21-Activated kinase 3 (PAK3) protein regulates synaptic transmission through its interaction with the Nck2/Grb4 protein adaptorAn assessment of sex bias in neurodevelopmental disorders.Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.Mutations in NSUN2 cause autosomal-recessive intellectual disability.Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilitySystems biology and gene networks in neurodevelopmental and neurodegenerative disorders.Intellectual disability is associated with increased runs of homozygosity in simplex autismVariants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.Application of array-based comparative genomic hybridization to pediatric neurologic diseasesGenotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era."Idiopathic" mental retardation and new chromosomal abnormalities.Family adjustment and interventions in neurodevelopmental disorders.
P2860
Q22242622-ABB8E8C2-83DE-473E-BD0A-E3F1463E7E2FQ24295228-0B69A860-4236-430F-AF76-9A83FB807B29Q26748977-94C1C4F6-EF77-4D82-9674-D7223719C5C3Q26825398-CE30D54C-B503-4994-9A62-132A0DFD82D8Q27027343-4D91334A-2BA2-4A91-B204-DAE841EF6791Q27027715-F1699B20-EE24-4E0A-885E-C333E316BF18Q28117706-AA8C7431-EE96-4ADC-89FE-40324C3C92B2Q28118296-4CB6F398-6198-4C1E-9DE2-1EDF9C946881Q28728525-08F8641C-D3EF-4A3E-BEA0-214533B9A757Q30241067-4B2481CD-3072-4305-A4D6-C22C5A01BE8EQ30366940-DABEB3D7-48BE-4A04-B8B7-149455A02F16Q30370553-8B8C29C9-B5F3-461F-B024-6A7F5D4EE8BFQ30596522-5B169603-4202-4BFC-96FB-89A4E3C40B36Q33575502-B3BE273E-80D5-458F-8F8A-1B23A2F92700Q33845730-EACFF35A-97E8-4800-8B80-AF60537FC00EQ33937230-E3766F16-A853-41D6-B2FF-CCA530025688Q34024006-CA7F8FFD-619C-4F66-8C22-53F3260A1502Q34050944-DCDE4ACB-A1EE-4565-8958-2095845A6B12Q34145837-EE920D52-F0DC-40A6-B7CB-31DF3CA8B843Q34215113-9E957ADD-2CDE-413C-95F9-E9DB9D7D007CQ34332444-B8969B09-A77C-4426-BC3F-D3E8556C8E7DQ34526053-3BA5C7B7-FD04-4D11-823B-7A2F9C7292D3Q34775670-467525E6-7529-406D-9FCB-97FC16F75194Q35030967-9214297A-DF5D-48D7-883F-049EDBB835E0Q35049670-5BE74CD3-2528-49B2-B38B-3A984D6E1D74Q35104916-CE2A5EF8-5C8D-4B7A-98C4-FCB2A74B8F7CQ35220720-824F880A-5768-417B-BC64-AA30C29A8755Q35562644-69D00C1D-6996-4E54-9D56-0ECF5432584DQ35996972-0646EFAA-9A9C-4384-932E-3F1651040290Q36036336-4BB61698-8DCA-4CF3-BD1B-99C9B31317ADQ36036572-8FB49127-D90A-4BF6-A230-4CD515C5D83EQ36257814-84BD1BE0-C7F1-45C3-B508-38900ABB5E66Q36358451-89E636D9-BB47-4586-BA0B-BA474B6F2C19Q36424672-7879513B-8086-43D0-B76C-B1C50AF59B8FQ37010426-5EB82704-DA88-485A-90FA-A160864F3A90Q37231343-A57ED878-E913-47EA-A00A-A07DA354967FQ37418851-677A0311-1E05-4B79-8010-A02F8F33CEAFQ37654549-2C74C4F8-E274-4655-8657-5B9955E58F64Q37691480-F57E7949-FEA5-4550-9BE3-7DA30D3DC92DQ37697328-627B9763-AC72-4AF9-8C82-DE10CB548056
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on June 2008
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Genetics of intellectual disability.
@en
Genetics of intellectual disability.
@nl
type
label
Genetics of intellectual disability.
@en
Genetics of intellectual disability.
@nl
prefLabel
Genetics of intellectual disability.
@en
Genetics of intellectual disability.
@nl
P1476
Genetics of intellectual disability.
@en
P2093
H Hilger Ropers
P304
P356
10.1016/J.GDE.2008.07.008
P577
2008-06-01T00:00:00Z