Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection
about
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticistThe genetics of autistic disorders and its clinical relevance: a review of the literatureUnraveling autismStructural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesionMolecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disordersReduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism.A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum exportCurrent developments in the genetics of autism: from phenome to genomeNeurexin-neuroligin signaling in synapse developmentA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Familial deletion within NLGN4 associated with autism and Tourette syndromeSynaptic proteins and receptors defects in autism spectrum disordersMinimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin miceAutism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites.[Genetic and brain structure anomalies in autism spectrum disorders. Towards an understanding of the aetiopathogenesis?].The genetics of autism: key issues, recent findings, and clinical implications.A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort.Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.Regions of XY homology in the pig X chromosome and the boundary of the pseudoautosomal region.Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.Synaptic signaling and aberrant RNA splicing in autism spectrum disordersThe neurobiology of autism.Autism-lessons from the X chromosome.Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: the neuroligin-neurexin hypothesis.Links between genetics and pathophysiology in the autism spectrum disorders.Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features.Fragile X syndrome and autism at the intersection of genetic and neural networks.Genetic testing in autism: how much is enough?Characterization of the solution structure of a neuroligin/beta-neurexin complex.Linkage analysis of schizophrenia in African-American familiesCopy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.Could autism with mental retardation result from digenism and frequent de novo mutations?Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian CohortA matter of balance: role of neurexin and neuroligin at the synapse.Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD.Sex differences in children with autism spectrum disorder identified within a high-risk infant cohort.Stage 1 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: protocol for a test of the double hit hypothesis.Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis
P2860
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P2860
Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Absence of coding mutations in ...... ism from the IMGSAC collection
@ast
Absence of coding mutations in ...... ism from the IMGSAC collection
@en
Absence of coding mutations in ...... ism from the IMGSAC collection
@nl
type
label
Absence of coding mutations in ...... ism from the IMGSAC collection
@ast
Absence of coding mutations in ...... ism from the IMGSAC collection
@en
Absence of coding mutations in ...... ism from the IMGSAC collection
@nl
prefLabel
Absence of coding mutations in ...... ism from the IMGSAC collection
@ast
Absence of coding mutations in ...... ism from the IMGSAC collection
@en
Absence of coding mutations in ...... ism from the IMGSAC collection
@nl
P2093
P3181
P356
P1476
Absence of coding mutations in ...... ism from the IMGSAC collection
@en
P2093
Anthony J Bailey
Elena Bacchelli
Elena Maestrini
Francesca Blasi
Giulia Pesaresi
Simona Carone
P3181
P356
10.1002/AJMG.B.30287
P407
P577
2006-04-05T00:00:00Z