Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
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Advances in understanding - genetic basis of intellectual disabilityCase report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literatureA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 FamilyCLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency.Prioritizing the development of mouse models for childhood brain disordersLoss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromesNovel genetic causes for cerebral visual impairmentVaRank: a simple and powerful tool for ranking genetic variantsIonotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersWhole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDRedefining the MED13L syndromeMolecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brainSystematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-OrchidismA targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvementTargeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing.A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell deathMR Imaging Findings in Xp21.2 Duplication Syndrome.Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyIdentification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells.Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.Glycan susceptibility factors in autism spectrum disorders.Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.Exploiting the potential of next-generation sequencing in genomic medicine.Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisIncorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis.
P2860
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P2860
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
description
2014 nî lūn-bûn
@nan
2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Efficient strategy for the mol ...... ed high-throughput sequencing.
@ast
Efficient strategy for the mol ...... ed high-throughput sequencing.
@en
Efficient strategy for the mol ...... ed high-throughput sequencing.
@nl
type
label
Efficient strategy for the mol ...... ed high-throughput sequencing.
@ast
Efficient strategy for the mol ...... ed high-throughput sequencing.
@en
Efficient strategy for the mol ...... ed high-throughput sequencing.
@nl
prefLabel
Efficient strategy for the mol ...... ed high-throughput sequencing.
@ast
Efficient strategy for the mol ...... ed high-throughput sequencing.
@en
Efficient strategy for the mol ...... ed high-throughput sequencing.
@nl
P2093
P2860
P50
P1476
Efficient strategy for the mol ...... ed high-throughput sequencing.
@en
P2093
Alice Goldenberg
Alice Masurel-Paulet
Anne Polge
Bernard Jost
Bertrand Isidor
Bénédicte Gérard
Bérénice Doray
Christel Thauvin-Robinet
Christine Francannet
Claire Feger
P2860
P304
P356
10.1136/JMEDGENET-2014-102554
P407
P50
P577
2014-08-28T00:00:00Z