Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE
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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingRecent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing TechnologyOn the Teneurin track: a new synaptic organization molecule emergesWhole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi familiesHUWE1 is a molecular link controlling RAF-1 activity supported by the Shoc2 scaffold.Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.The social brain network and autismModulation of the genome and epigenome of individuals susceptible to autism by environmental risk factorsGlobal comparison of chromosome X genes of pulmonary telocytes with mesenchymal stem cells, fibroblasts, alveolar type II cells, airway epithelial cells, and lymphocytes.Factors influencing success of clinical genome sequencing across a broad spectrum of disordersInborn Errors of Long-Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism.Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.Rare complete knockouts in humans: population distribution and significant role in autism spectrum disordersHUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencingThe G2/M regulator histone demethylase PHF8 is targeted for degradation by the anaphase-promoting complex containing CDC20Metabolic Dysfunction Underlying Autism Spectrum Disorder and Potential Treatment Approaches.High-throughput sequencing of autism spectrum disorders comes of age.The roles of Jumonji-type oxygenases in human disease.Developmental neurogenetics and multimodal neuroimaging of sex differences in autism.Regulation of SPRY3 by X chromosome and PAR2-linked promoters in an autism susceptibility region.Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach.Perturbed proteostasis in autism spectrum disorders.Autism genetics - an overview.The histone demethylase PHF8 is a molecular safeguard of the IFNγ response.Carnitine transport and fatty acid oxidation.Human carnitine biosynthesis proceeds via (2S,3S)-3-hydroxy-Nε-trimethyllysine.Loss of Drosophila FMRP leads to alterations in energy metabolism and mitochondrial function.HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.Systematic reconstruction of autism biology from massive genetic mutation profiles.Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
P2860
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P2860
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE
description
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2012
@ast
scientific journal article
@en
vedecký článok (publikovaný 2012/10/23)
@sk
vědecký článek publikovaný v roce 2012
@cs
wetenschappelijk artikel (gepubliceerd op 2012/10/23)
@nl
wissenschaftlicher Artikel
@de
наукова стаття, опублікована в жовтні 2012
@uk
مقالة علمية (نشرت في 23-10-2012)
@ar
name
Analysis of the chromosome X e ...... ndidate genes, including TMLHE
@ast
Analysis of the chromosome X e ...... ndidate genes, including TMLHE
@en
Analysis of the chromosome X e ...... ndidate genes, including TMLHE
@nl
type
label
Analysis of the chromosome X e ...... ndidate genes, including TMLHE
@ast
Analysis of the chromosome X e ...... ndidate genes, including TMLHE
@en
Analysis of the chromosome X e ...... ndidate genes, including TMLHE
@nl
prefLabel
Analysis of the chromosome X e ...... ndidate genes, including TMLHE
@ast
Analysis of the chromosome X e ...... ndidate genes, including TMLHE
@en
Analysis of the chromosome X e ...... ndidate genes, including TMLHE
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
Analysis of the chromosome X e ...... ndidate genes, including TMLHE
@en
P2093
A. Afenjar
A. Jacquette
A. Rastetter
C. Depienne
C. Dupuits
C. Gautier
P2860
P2888
P3181
P356
10.1038/TP.2012.102
P577
2012-10-23T00:00:00Z
P5875
P6179
1002445099