The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome) - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q24612792

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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments Induced pluripotent stem cells for modeling neurological disorders Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications Induced Pluripotent Stem Cells as a Novel Tool in Psychiatric Research Behavioral phenotypes of genetic mouse models of autism.The role of cerebellar circuitry alterations in the pathophysiology of autism spectrum disorders Cellular and synaptic network defects in autism 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.Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice.Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome.Actin-Dependent Alterations of Dendritic Spine Morphology in Shankopathies Insulin-Like Growth Factor 1 and Related Compounds in the Treatment of Childhood-Onset Neurodevelopmental Disorders The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms 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 SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency.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.Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission.SHANK3 controls maturation of social reward circuits in the VTA The PHF21B gene is associated with major depression and modulates the stress response.Adult-onset psychosis and clinical genetics: a case of Phelan-McDermid syndrome 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.Using passenger mutations to estimate the timing of driver mutations and identify mutator alterations Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports.Autism-Associated Insertion Mutation (InsG) of Shank3 Exon 21 Causes Impaired Synaptic Transmission and Behavioral Deficits.Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome.Early diagnosis of autism and impact on prognosis: a narrative review Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations.Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses.Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial

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

http://www.wikidata.org/entity/Q24612792

description

2012 nî lūn-bûn

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2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2012 թվականի ապրիլին հրատարակված գիտական հոդված

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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name

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

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

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

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type

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

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

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

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

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

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

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Molecular syndromology

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

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H E McDermid

http://www.w3.org/2001/XMLSchema#string

K Phelan

http://www.w3.org/2001/XMLSchema#string

P2860

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13

Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Acrosin, the peculiar sperm-specific serine protease

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

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

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186-201

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scholarly article

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2081725

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3144914

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10.1159/000334260

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3-5

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2

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2012-04-01T00:00:00Z

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225273539

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22670140

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3366702

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