X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
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Advances in understanding - genetic basis of intellectual disabilityDiscovery of CLC transport proteins: cloning, structure, function and pathophysiologyTHOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual DisabilityDefects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingNovel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 FamilyNeurogenetic analysis of childhood disintegrative disorder.ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing.A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.Cyclin Y phosphorylation- and 14-3-3-binding-dependent activation of PCTAIRE-1/CDK16.NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-OrchidismDe Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsArray-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVsDecreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.Exome Sequencing and the Management of Neurometabolic Disorders.Clinical exome sequencing: results from 2819 samples reflecting 1000 families.Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disabilityA non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Overexpression of the Endosomal Anion/Proton Exchanger ClC-5 Increases Cell Susceptibility toward Clostridium difficile Toxins TcdA and TcdB.Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection.Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.An interaction network of mental disorder proteins in neural stem cellsA Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.ATXN7L3 and ENY2 Coordinate Activity of Multiple H2B Deubiquitinases Important for Cellular Proliferation and Tumor Growth.Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.Genetics of intellectual disability in consanguineous families.FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis.De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
description
2016 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
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im Januar 2016 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2016/01/01)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/01/01)
@nl
наукова стаття, опублікована в січні 2016
@uk
مقالة علمية (نشرت عام 2016)
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name
X-exome sequencing of 405 unre ...... intellectual disability genes
@ast
X-exome sequencing of 405 unre ...... intellectual disability genes
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X-exome sequencing of 405 unre ...... intellectual disability genes
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type
label
X-exome sequencing of 405 unre ...... intellectual disability genes
@ast
X-exome sequencing of 405 unre ...... intellectual disability genes
@en
X-exome sequencing of 405 unre ...... intellectual disability genes
@nl
prefLabel
X-exome sequencing of 405 unre ...... intellectual disability genes
@ast
X-exome sequencing of 405 unre ...... intellectual disability genes
@en
X-exome sequencing of 405 unre ...... intellectual disability genes
@nl
P2093
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P3181
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X-exome sequencing of 405 unre ...... intellectual disability genes
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P2093
A Latos-Bieleńska
A P M de Brouwer
A Tzschach
A van Bömmel
B Simon-Bouy
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P2888
P304
P3181
P356
10.1038/MP.2014.193
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P50
P577
2015-02-03T00:00:00Z