Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. - Wikidata - wikimedia - TriplyDB

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

http://www.wikidata.org/entity/Q37001013

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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments The role of cerebellar circuitry alterations in the pathophysiology of autism spectrum disorders The role of glutamate and its receptors in autism and the use of glutamate receptor antagonists in treatment.Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism.Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome.Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat Striatopallidal dysfunction underlies repetitive behavior in Shank3-deficient model of autism.Expression of SHANK3 in the Temporal Neocortex of Patients with Intractable Temporal Epilepsy and Epilepsy Rat Models.Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice.Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.Molecular handoffs in nitrergic neurotransmission Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Absence of strong strain effects in behavioral analyses of Shank3-deficient mice Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID.The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism.Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms.Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits.The therapeutic potential of insulin-like growth factor-1 in central nervous system disorders.Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.Characterization of the Statistical Signatures of Micro-Movements Underlying Natural Gait Patterns in Children with Phelan McDermid Syndrome: Towards Precision-Phenotyping of Behavior in ASD.Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis.Defining Precision Medicine Approaches to Autism Spectrum Disorders: Concepts and Challenges A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome.A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder.Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge A blueprint for research on Shankopathies: a view from research on autism spectrum disorder.Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.Human Inducible Pluripotent Stem Cells and Autism Spectrum Disorder: Emerging Technologies.Sleep Disturbances in Individuals With Phelan-McDermid Syndrome: Correlation With Caregivers' Sleep Quality and Daytime Functioning.Lessons learned from studying syndromic autism spectrum disorders.Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy.Brief Report: Sensory Reactivity in Children with Phelan-McDermid Syndrome.

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Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.

http://www.wikidata.org/entity/Q37001013

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Prospective investigation of a ...... yndrome and SHANK3 deficiency.

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Prospective investigation of a ...... yndrome and SHANK3 deficiency.

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Molecular Autism

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Prospective investigation of a ...... yndrome and SHANK3 deficiency.

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A Ting Wang

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Alexander Kolevzon

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Benjamin Angarita

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Danielle Halpern

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David Grodberg

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Elena Parkhomenko

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Guiqing Cai

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Jessica Zweifach

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Judith P Willner

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Latha Soorya

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P2860

Deletion 22q13.3 syndrome

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Functional impact of global rare copy number variation in autism spectrum disorders

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

Strong association of de novo copy number mutations with autism

Contribution of SHANK3 mutations to autism spectrum disorder

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

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Catalina Betancur

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