(Q36738343)

16 August 2017

Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population (English)

1 reference

genome-wide association study

16 August 2017

0 references

1 reference

2

Natalia Rakhlin

1 reference

16 August 2017

10

Elena L Grigorenko

1 reference

16 August 2017

Sergey A Kornilov

1

1 reference

16 August 2017

Roman Koposov

3

1 reference

16 August 2017

Maria Lee

4

1 reference

16 August 2017

Carolyn Yrigollen

5

1 reference

16 August 2017

Ahmet Okay Caglayan

6

1 reference

16 August 2017

James S Magnuson

7

1 reference

16 August 2017

Shrikant Mane

8

1 reference

16 August 2017

Joseph T Chang

9

1 reference

16 August 2017

language of work or name

English

0 references

publication date

25 March 2016

1 reference

16 August 2017

1 reference

16 August 2017

137

1 reference

16 August 2017

4

1 reference

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Attentional but not pre-attentive neural measures of auditory discrimination are atypical in children with developmental language disorder.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Refining analyses of copy number variation identifies specific genes associated with developmental delay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Genetic variability in the regulation of gene expression in ten regions of the human brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Complex pedigrees in the sequencing era: to track transmissions or decorrelate?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

β1-Integrin and integrin linked kinase regulate astrocytic differentiation of neural stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Genome-wide screening for DNA variants associated with reading and language traits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

eXtasy: variant prioritization by genomic data fusion.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Genome-wide association study of shared components of reading disability and language impairment.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Intellectual disability is associated with increased runs of homozygosity in simplex autism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

A genome-wide association study for reading and language abilities in two population cohorts.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

HYST: a hybrid set-based test for genome-wide association studies, with application to protein-protein interaction-based association analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Cortical neural precursors inhibit their own differentiation via N-cadherin maintenance of beta-catenin signaling.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Variance component model to account for sample structure in genome-wide association studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

CMIP and ATP2C2 modulate phonological short-term memory in language impairment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Genome-wide analysis of MEF2 transcriptional program reveals synaptic target genes and neuronal activity-dependent polyadenylation site selection

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

A functional genetic link between distinct developmental language disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Children with comorbid speech sound disorder and specific language impairment are at increased risk for attention-deficit/hyperactivity disorder.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Language impairment and psychiatric comorbidities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Identification of TCP10L as primate-specific gene derived via segmental duplication and homodimerization of TCP10L through the leucine zipper motif

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

EFCBP1/NECAB1, a brain-specifically expressed gene with highest abundance in temporal lobe, encodes a protein containing EF-hand and antibiotic biosynthesis monooxygenase domains

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

A pre-synaptic to-do list for coupling exocytosis to endocytosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

A calcium-regulated MEF2 sumoylation switch controls postsynaptic differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Activity-dependent regulation of MEF2 transcription factors suppresses excitatory synapse number

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Mutations in the holocarboxylase synthetase gene HLCS.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Developmental language disorders--a follow-up in later adult life. Cognitive, language and psychosocial outcomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Estrogens in the nervous system: mechanisms and nonreproductive functions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Role of integrin-linked kinase in nerve growth factor-stimulated neurite outgrowth

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

A major susceptibility locus for specific language impairment is located on 13q21.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

FOXP2 is not a major susceptibility gene for autism or specific language impairment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

A genomewide scan identifies two novel loci involved in specific language impairment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Educational attainments of school leavers with a preschool history of speech-language impairments.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Prevalence and natural history of primary speech and language delay: findings from a systematic review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Prevalence of specific language impairment in kindergarten children.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Genome-wide efficient mixed-model analysis for association studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Borderline personality disorder and childhood maltreatment: a genome-wide methylation analysis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Sex hormones in early infancy seem to predict aspects of later language development

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

TRIP6 regulates neural stem cell maintenance in the postnatal mammalian subventricular zone

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

MEF2 negatively regulates learning-induced structural plasticity and memory formation

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

N-cadherin mediates cortical organization in the mouse brain

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

Structural and functional aberrations in the cerebral cortex of tenascin-C deficient mice

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4811310

The value of isolated populations

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27016271

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27016271

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expression of mef2 genes in the mouse central nervous system suggests a role in neuronal maturation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27016271

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1542/PEDS.2015-2469

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

27016271

1 reference