Dosis génica y lenguaje: a propósito de la región cromosómica 7q11.23 (Q58227233)

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7 January 2021

Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

1 reference

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7 January 2021

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

1 reference

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7 January 2021

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes.

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Inhibition of neurite extension by overexpression of individual domains of LIM kinase 1.

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https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Genetic and environmental risks for specific language impairment in children

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https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

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https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Syntax and morphology in Williams syndrome.

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Control of growth cone motility and morphology by LIM kinase and Slingshot via phosphorylation and dephosphorylation of cofilin.

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Deciphering the genetic basis of speech and language disorders

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https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

LIM kinase and Diaphanous cooperate to regulate serum response factor and actin dynamics

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Psychiatric endophenotypes and the development of valid animal models.

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Synapse proteomics of multiprotein complexes: en route from genes to nervous system diseases.

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes

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https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

LAB: a new membrane-associated adaptor molecule in B cell activation

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Specific language impairment: a deficit in grammar or processing?

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

A forkhead-domain gene is mutated in a severe speech and language disorder

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Absolute Pitch in Williams Syndrome

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review.

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Signaling from Rho to the actin cytoskeleton through protein kinases ROCK and LIM-kinase

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

N- to C-Terminal SNARE Complex Assembly Promotes Rapid Membrane Fusion

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Purification and characterization of a new eukaryotic protein translation factor. Eukaryotic initiation factor 4H

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

A brain-specific microRNA regulates dendritic spine development

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Prevalence of speech delay in 6-year-old children and comorbidity with language impairment

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2.

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Severe expressive-language delay related to duplication of the Williams-Beuren locus

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Genome architecture, rearrangements and genomic disorders

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

LIM-kinase deleted in Williams syndrome.

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

FOXP2 and the neuroanatomy of speech and language

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Functional genetic analysis of mutations implicated in a human speech and language disorder

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.

1 reference

https://api.crossref.org/works/10.1016/S0214-4603(09)70143-3

7 January 2021