Copy number variants at Williams-Beuren syndrome 7q11.23 region.
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The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresomeMouse Genetic Models of Human Brain DisordersDiscovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsThe nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulationChromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.Disruption of Src Is Associated with Phenotypes Related to Williams-Beuren Syndrome and Altered Cellular Localization of TFII-I(1,2).Estimation of copy number alterations from exome sequencing data.Opposite effects on facial morphology due to gene dosage sensitivityCopy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countriesNovel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.Evolution of the Cdk-activator Speedy/RINGO in vertebrates.Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein.Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene.Dosage-dependent phenotypes in models of 16p11.2 lesions found in autismWhite matter integrity deficits in prefrontal-amygdala pathways in Williams syndrome.The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention.RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting.Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis.Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi ArabiaSmaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.Human pluripotent stem cell models of autism spectrum disorder: emerging frontiers, opportunities, and challenges towards neuronal networks in a dishA review of the evidence for the canonical Wnt pathway in autism spectrum disorders.Child development and structural variation in the human genome.Autism spectrum disorder in the genetics clinic: a review.Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndromeAnnual research review: Rare genotypes and childhood psychopathology--uncovering diverse developmental mechanisms of ADHD risk.Role of Splice Variants of Gtf2i, a Transcription Factor Localizing at Postsynaptic Sites, and Its Relation to Neuropsychiatric Diseases.Epigenetic Mistakes in Neurodevelopmental Disorders.Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.A role of genomic copy number variation in the complex behavioral phenotype of alcohol dependence: a commentary.Using iPSCs and genomics to catch CNVs in the act.Novel splice variants in the 5'UTR of Gtf2i expressed in the rat brain: alternative 5'UTRs and differential expression in the neuronal dendrites.Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?A Polymer Physics Investigation of the Architecture of the Murine Orthologue of the 7q11.23 Human Locus.Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.Neuron density is decreased in the prefrontal cortex in Williams syndrome.
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P2860
Copy number variants at Williams-Beuren syndrome 7q11.23 region.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on May 2010
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Copy number variants at Williams-Beuren syndrome 7q11.23 region.
@en
Copy number variants at Williams-Beuren syndrome 7q11.23 region.
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type
label
Copy number variants at Williams-Beuren syndrome 7q11.23 region.
@en
Copy number variants at Williams-Beuren syndrome 7q11.23 region.
@nl
prefLabel
Copy number variants at Williams-Beuren syndrome 7q11.23 region.
@en
Copy number variants at Williams-Beuren syndrome 7q11.23 region.
@nl
P2860
P50
P1433
P1476
Copy number variants at Williams-Beuren syndrome 7q11.23 region
@en
P2093
Giuseppe Merla
P2860
P2888
P356
10.1007/S00439-010-0827-2
P577
2010-05-01T00:00:00Z