(Q41733111)

English

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

scientific article published on 23 June 2010

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency (English)

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

haploinsufficiency

0 references

1 reference

based on heuristic

inferred from title

William B. Dobyns

7

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

Christa Lese Martin

6

object named as

Christa Lese Martin

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

Daniel Moreno-De-Luca

2

object named as

Daniel Moreno-De-Luca

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

author name string

Christopher W Carr

1

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

Colette Parker

3

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

Holly H Zimmerman

4

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

Nikki Ledbetter

5

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

Omar A Abdul-Rahman

8

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

23 June 2010

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

18

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

11

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

1216-1220

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.96

0 references

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Coordinated actions of the forkhead protein Foxp1 and Hox proteins in the columnar organization of spinal motor neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Hox repertoires for motor neuron diversity and connectivity gated by a single accessory factor, FoxP1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Incomplete and inaccurate vocal imitation after knockdown of FoxP2 in songbird basal ganglia nucleus Area X.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

CHERI: time to identify the syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Foxp1 is an essential transcriptional regulator of B cell development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Cerebellar fits in children with Chiari I malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Expression of the FOXP1 transcription factor is strongly associated with inferior survival in patients with diffuse large B-cell lymphoma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Foxp1 regulates cardiac outflow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Detection of large-scale variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Language fMRI abnormalities associated with FOXP2 gene mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Association of Chiari I malformation, mental retardation, speech delay, and epilepsy: a specific disorder?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Characterization of a new subfamily of winged-helix/forkhead (Fox) genes that are expressed in the lung and act as transcriptional repressors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Audio-vestibular manifestations of Chiari malformation and outcome of surgical decompression: a case report.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

Praxic and nonverbal cognitive deficits in a large family with a genetically transmitted speech and language disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

An extended family with a dominantly inherited speech disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

6 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

18 August 2018

Specific language impairment: linguistic and neurobiological aspects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

18 August 2018

A Hox regulatory network establishes motor neuron pool identity and target-muscle connectivity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

18 August 2018

Motor neuron columnar fate imposed by sequential phases of Hox-c activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

18 August 2018

Seizures in paediatric Chiari type I malformation: the role of single-photon emission computed tomography.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987472

18 August 2018

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

1 reference

https://pubmed.ncbi.nlm.nih.gov/20571508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2010.96

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

8 October 2017

ResearchGate publication ID

0 references

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