The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.
about
Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structuresThe genetics of autistic disorders and its clinical relevance: a review of the literatureThe comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardationCytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderPrader-Willi, Angelman, and 15q11-q13 Duplication SyndromesBehavioral and Neuroanatomical Phenotypes in Mouse Models of AutismA genome-wide search for alleles and haplotypes associated with autism and related pervasive developmental disorders on the Faroe IslandsSynaptic proteins and receptors defects in autism spectrum disordersRole of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism.Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorderTransmission disequilibrium testing of the chromosome 15q11-q13 region in autismGene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms.A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.Maternal immune activation and autism spectrum disorder: interleukin-6 signaling as a key mechanistic pathwayAn evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Animal models of psychiatric disorders that reflect human copy number variation.Monogenic and chromosomal causes of isolated speech and language impairment.Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular studyOxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disordersDirectly transmitted unbalanced chromosome abnormalities and euchromatic variantsThe neurobiology of mouse models syntenic to human chromosome 15q.Prader-Willi syndrome and autism spectrum disorders: an evolving story.Autism spectrum disorder and epilepsy: Disorders with a shared biology.GABA system dysfunction in autism and related disorders: from synapse to symptomsIncreased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samplesChromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism.Molecular genetics of autism spectrum disorder.Copy number variations at the Prader-Willi syndrome region on chromosome 15 and associations with obesity in whites.Significant neuronal soma volume deficit in the limbic system in subjects with 15q11.2-q13 duplicationsMaternal transmission of a rare GABRB3 signal peptide variant is associated with autismAssociation testing of copy number variants in schizophrenia and autism spectrum disorders.Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.Identification of a distinct developmental and behavioral profile in children with Dup15q syndromeMicroarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlationsEpigenetics, autism spectrum, and neurodevelopmental disorders.The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.
P2860
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P2860
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.
description
2001 nî lūn-bûn
@nan
2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The phenotypic manifestations ...... e autistic spectrum disorders.
@ast
The phenotypic manifestations ...... e autistic spectrum disorders.
@en
The phenotypic manifestations ...... e autistic spectrum disorders.
@nl
type
label
The phenotypic manifestations ...... e autistic spectrum disorders.
@ast
The phenotypic manifestations ...... e autistic spectrum disorders.
@en
The phenotypic manifestations ...... e autistic spectrum disorders.
@nl
prefLabel
The phenotypic manifestations ...... e autistic spectrum disorders.
@ast
The phenotypic manifestations ...... e autistic spectrum disorders.
@en
The phenotypic manifestations ...... e autistic spectrum disorders.
@nl
P2093
P2860
P356
P1476
The phenotypic manifestations ...... e autistic spectrum disorders.
@en
P2093
Thompson RJ
Veltman MW
P2860
P304
P356
10.1002/AJMG.1551
P577
2001-12-01T00:00:00Z