22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome - Wikidata - awgldk - TriplyDB

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome

http://www.wikidata.org/entity/Q28300418

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Induced pluripotent stem cells for modeling neurological disorders Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring Letter to the editor regarding Disciglio et al.: interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3.Expression of SHANK3 in the Temporal Neocortex of Patients with Intractable Temporal Epilepsy and Epilepsy Rat Models.Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).Autism spectrum disorders and disease modeling using stem cells.A framework to identify contributing genes in patients with Phelan-McDermid syndrome.Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study.Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.CRISPR/Cas9-induced shank3b mutant zebrafish display autism-like behaviors.A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing.Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Gene 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype

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P2860

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome

http://www.wikidata.org/entity/Q28300418

description

2014 nî lūn-bûn

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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի ապրիլին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

22q13.2q13.32 genomic regions ...... es in Phelan-McDermid syndrome

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22q13.2q13.32 genomic regions ...... es in Phelan-McDermid syndrome

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22q13.2q13.32 genomic regions ...... es in Phelan-McDermid syndrome

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22q13.2q13.32 genomic regions ...... es in Phelan-McDermid syndrome

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22q13.2q13.32 genomic regions ...... es in Phelan-McDermid syndrome

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22q13.2q13.32 genomic regions ...... es in Phelan-McDermid syndrome

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22q13.2q13.32 genomic regions ...... es in Phelan-McDermid syndrome

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22q13.2q13.32 genomic regions ...... es in Phelan-McDermid syndrome

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22q13.2q13.32 genomic regions ...... es in Phelan-McDermid syndrome

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P2860

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P1433

Genetics in Medicine

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22q13.2q13.32 genomic regions ...... es in Phelan-McDermid syndrome

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P2093

Alka Dwivedi

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Barbara R DuPont

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Chin-Fu Chen

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Jonathan D Rollins

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Julia L Sharp

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Julianne S Collins

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Katy Phelan

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Luigi Boccuto

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R Curtis Rogers

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Sara M Sarasua

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P2860

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

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

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

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

Behavioral and cerebellar transmission deficits in mice lacking the autism-linked gene islet brain-2

Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain

Contribution of SHANK3 mutations to autism spectrum disorder

High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders

Most mammalian mRNAs are conserved targets of microRNAs

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

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P304

318-28

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scholarly article

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2081756

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10.1038/GIM.2013.144

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P433

4

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16

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258056251

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1013107605

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P698

24136618

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