Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

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Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Gene GABA Neuronal Deletion of Exons 14-16 in Mice Suppresses Striatal Excitatory Synaptic Input and Induces Social and Locomotor Abnormalities

P2860

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P2860

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

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http://www.wikidata.org/entity/Q55049140

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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@zh-sg

2018年學術文章

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2018年學術文章

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name

Delineation of the genetic and ...... sed by SHANK3 point mutations.

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Delineation of the genetic and ...... sed by SHANK3 point mutations.

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type

Item

label

Delineation of the genetic and ...... sed by SHANK3 point mutations.

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Delineation of the genetic and ...... sed by SHANK3 point mutations.

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Delineation of the genetic and ...... sed by SHANK3 point mutations.

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Delineation of the genetic and ...... sed by SHANK3 point mutations.

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P1476

Delineation of the genetic and ...... used by SHANK3 point mutations

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P2093

François Muratet

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P2860

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

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

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

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

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)

Synaptic, transcriptional and chromatin genes disrupted in autism

P2888

s13229-018-0205-9

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scholarly article

P356

10.1186/S13229-018-0205-9

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Maria Del Pilar Trelles

Yitzchak Frank

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2018-04-27T00:00:00Z

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1103669958

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29719671

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5921983

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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

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P2860

P2860

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

description

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type

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P1433

P1476

P2093

P2860

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P356

P478

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P577

P6179

P698

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P2860

P2888

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P478

P50

P577

P6179

P698

P932