(Q28300418)

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

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

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Sara M Sarasua

1

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Alka Dwivedi

2

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Luigi Boccuto

3

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Chin-Fu Chen

4

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Julia L Sharp

5

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Jonathan D Rollins

6

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Julianne S Collins

7

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R Curtis Rogers

8

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Katy Phelan

9

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Barbara R DuPont

10

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publication date

April 2014

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Genetics in Medicine

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16

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4

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318-28

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

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

Molecular and phenotypic characterization of ring chromosome 22

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

Statistics review 13: receiver operating characteristic curves

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

Fragile X and X-linked intellectual disability: four decades of discovery

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

Recent advances in the genetics of language impairment

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

Growth in Phelan-McDermid syndrome

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

Contribution of SHANK3 mutations to autism spectrum disorder

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

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

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

Most mammalian mRNAs are conserved targets of microRNAs

1 reference

https://api.crossref.org/works/10.1038/GIM.2013.144

21 April 2017

The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 April 2017

The role of the Rho GTPases in neuronal development

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 April 2017

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

Dangers of using "optimal" cutpoints in the evaluation of prognostic factors

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

The meaning and use of the area under a receiver operating characteristic (ROC) curve

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

Principles and practical application of the receiver-operating characteristic analysis for diagnostic tests.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

AutDB: a gene reference resource for autism research

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

Protein interactome reveals converging molecular pathways among autism disorders

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

XLMR genes: update 2007.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

Novel de novo SHANK3 mutation in autistic patients

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

21 January 2018

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.144

7 January 2021

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